Protein knowledgebaseSequence archiveHelp pages, FAQs, UniProtKB manual, documents, news archive and Biocuration projects.Sequence clustersProtein sets from fully sequenced genomesAnnotation systemsSystems used to automatically annotate proteins with high accuracy:Supporting dataSelect one of the options below to target your search:You are using a version of browser that may not display all the features of this website. Please consider upgrading . Collagen alpha-1(X) chainCOL10A1Homo sapiens (Human)-Annotation score: -Experimental evidence at protein leveliFunctioniType X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive mineralization zones of hyaline cartilage.SitesFeature keyPosition(s)DescriptionActionsGraphical viewLengthMetal bindingiCalcium 1Manual assertion inferred from combination of experimental and computational evidenceiManual assertion based on experiment ini"Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer.", , , , ,
[] [] []Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF
IN COMPLEX WITH CALCIUM, SUBUNIT, CALCIUM-BINDING.1Metal bindingiCalcium 1; via carbonyl oxygenManual assertion inferred from combination of experimental and computational evidenceiManual assertion based on experiment ini"Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer.", , , , ,
[] [] []Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF
IN COMPLEX WITH CALCIUM, SUBUNIT, CALCIUM-BINDING.1Metal bindingiCalcium 1; via carbonyl oxygenManual assertion inferred from combination of experimental and computational evidenceiManual assertion based on experiment ini"Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer.", , , , ,
[] [] []Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF
IN COMPLEX WITH CALCIUM, SUBUNIT, CALCIUM-BINDING.1Metal bindingiCalcium 1Manual assertion inferred from combination of experimental and computational evidenceiManual assertion based on experiment ini"Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer.", , , , ,
[] [] []Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF
IN COMPLEX WITH CALCIUM, SUBUNIT, CALCIUM-BINDING.1Metal bindingiCalcium 2; shared with neighboring subunitsManual assertion inferred from combination of experimental and computational evidenceiManual assertion based on experiment ini"Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer.", , , , ,
[] [] []Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF
IN COMPLEX WITH CALCIUM, SUBUNIT, CALCIUM-BINDING.1GO - Molecular functioniGO - Biological processiTraceable author statementiKeywordsiLigand, Enzyme and pathway databasesReactomei Collagen degradation Collagen biosynthesis and modifying enzymes Assembly of collagen fibrils and other multimeric structures Integrin cell surface interactions Non-integrin membrane-ECM interactions Collagen chain trimerizationSIGNORiNames & TaxonomyiProtein namesiRecommended name:Collagen alpha-1(X) chainGene namesiName:OrganismiTaxonomic identifieri
[]Taxonomic lineagei >
Proteomesi Componenti: Chromosome 6 Organism-specific databasesEuPathDBiHGNCi COL10A1MIMi geneneXtProtiSubcellular locationi
Extracellular region or secreted
Plasma membrane
Cytoskeleton
Peroxisome
Golgi apparatus
Mitochondrion
Manual annotation
Automatic computational assertionGraphics by Christian S Source: Keywords - Cellular componenti, Pathology & BiotechiInvolvement in diseaseiThe disease is caused by mutations affecting the gene represented in this entry.Disease descriptionDominantly inherited disorder of the osseous skeleton. The cardinal features of the phenotype are mild short stature, coxa vara and a waddling gait. Radiography usually shows sclerosis of the ribs, flaring of the metaphyses, and a wide irregular growth plate, especially of the knees. A variant form of SMCD is spondylometaphyseal dysplasia Japanese type. It is characterized by spinal involvement comprising mild platyspondyly, vertebral body abnormalities, and end-plate irregularity.Feature keyPosition(s)DescriptionActionsGraphical viewLengthNatural variantiVAR_001838 in SMCD. Manual assertion based on experiment ini"Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD GLU-18 AND ARG-18."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.Corresponds to variant .1Natural variantiVAR_001839 in SMCD. Manual assertion based on experiment ini"Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD GLU-18 AND ARG-18."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.Corresponds to variant .1Natural variantiVAR_023188 in SMCD. Manual assertion based on experiment ini"Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.1Natural variantiVAR_001841 in SMCD. Manual assertion based on experiment ini"Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.", , , ,
[] [] []Cited for: VARIANT SMCD ARG-591."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.Corresponds to variant .1Natural variantiVAR_023189 in SMCD. Manual assertion based on experiment ini"Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.1Natural variantiVAR_008039 in SMCD. Manual assertion based on experiment ini"Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.", , ,
[] [] []Cited for: VARIANT SMCD CYS-597."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.Corresponds to variant .1Natural variantiVAR_001843 in SMCD. Manual assertion based on experiment ini"Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.", ,
[] [] []Cited for: VARIANTS SMCD ARG-545; GLU-595; HIS-597; LYS-617; ARG-644 AND GLY-648."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.1Natural variantiVAR_001844 in SMCD. Manual assertion based on experiment ini"Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.", , , , , , , Am. J. Hum. Genet. 54:169-178(1994)
[] [] []Cited for: VARIANTS SMCD ASP-598 AND PRO-614."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.Corresponds to variant .1Natural variantiVAR_001845 in SMCD. Manual assertion based on experiment ini"Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.", , , , , , , ,
[] [] []Cited for: VARIANT SMCD PRO-600."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.Corresponds to variant .1Natural variantiVAR_001846 in SMCD. Manual assertion based on experiment ini"Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.", , , , , , , Am. J. Hum. Genet. 54:169-178(1994)
[] [] []Cited for: VARIANTS SMCD ASP-598 AND PRO-614."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.Corresponds to variant .1Natural variantiVAR_001847 in SMCD. Manual assertion based on experiment ini"Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.", ,
[] [] []Cited for: VARIANTS SMCD ARG-545; GLU-595; HIS-597; LYS-617; ARG-644 AND GLY-648."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.1Natural variantiVAR_001848 in SMCD. Manual assertion based on experiment ini"Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia.", , ,
[] [] []Cited for: VARIANT SMCD VAL-618."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.1Natural variantiVAR_001849 in SMCD. Manual assertion based on experiment ini"Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.", ,
[] [] []Cited for: VARIANTS SMCD ARG-545; GLU-595; HIS-597; LYS-617; ARG-644 AND GLY-648."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.1Natural variantiVAR_001850 in SMCD. Manual assertion based on experiment ini"Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.", ,
[] [] []Cited for: VARIANTS SMCD ARG-545; GLU-595; HIS-597; LYS-617; ARG-644 AND GLY-648."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.1Natural variantiVAR_023191 in SMCD. Manual assertion based on experiment ini"Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.Corresponds to variant .1Natural variantiVAR_023192 in SMCD. Manual assertion based on experiment ini"Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.1Natural variantiVAR_023193 in SMCD. Manual assertion based on experiment ini"Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.Corresponds to variant .1Keywords - DiseaseiOrganism-specific databasesDisGeNETiMalaCardsiMIMi phenotypeOpenTargetsiOrphaneti Metaphyseal chondrodysplasia, Schmid typePharmGKBiPolymorphism and mutation databasesBioMutaiDMDMiPTM / ProcessingiMolecule processingFeature keyPosition(s)DescriptionActionsGraphical viewLengthSignal peptidei 18ChainiPRO_Collagen alpha-1(X) chain 662Post-translational modificationiProlines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.Keywords - PTMiProteomic databasesPaxDbiPeptideAtlasiPRIDEiProteomicsDBiPTM databasesPhosphoSitePlusiExpressioniGene expression databasesBgeeiCleanExiExpressionAtlasi baseline and differentialGenevisiblei HSOrganism-specific databasesHPAiInteractioniSubunit structureiHomotrimer.Manual assertion based on experiment ini"Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer.", , , , ,
[] [] []Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF
IN COMPLEX WITH CALCIUM, SUBUNIT, CALCIUM-BINDING.Binary interactionsiProtein-protein interaction databasesBioGridi, 13 interactorsComplexPortali Collagen type X trimerIntActi, 8 interactorsMINTiSTRINGiStructureiSecondary structure1680Legend: HelixTurnBeta strandPDB Structure known for this areaFeature keyPosition(s)DescriptionActionsGraphical viewLengthBeta strandiManual assertion inferred from combination of experimental and computational evidencei5Beta strandiManual assertion inferred from combination of experimental and computational evidencei3Beta strandiManual assertion inferred from combination of experimental and computational evidencei4TurniManual assertion inferred from combination of experimental and computational evidencei3Beta strandiManual assertion inferred from combination of experimental and computational evidencei22Beta strandiManual assertion inferred from combination of experimental and computational evidencei8Beta strandiManual assertion inferred from combination of experimental and computational evidencei11Beta strandiManual assertion inferred from combination of experimental and computational evidencei5Beta strandiManual assertion inferred from combination of experimental and computational evidencei5Beta strandiManual assertion inferred from combination of experimental and computational evidencei3Beta strandiManual assertion inferred from combination of experimental and computational evidencei93D structure databasesProteinModelPortaliSMRiModBaseiMobiDBiMiscellaneous databasesEvolutionaryTraceiFamily & DomainsiDomains and RepeatsFeature keyPosition(s)DescriptionActionsGraphical viewLengthDomainiC1qManual assertion according to rulesi 134RegionFeature keyPosition(s)DescriptionActionsGraphical viewLengthRegioniNonhelical region (NC2) 38RegioniTriple-helical region 463RegioniNonhelical region (NC1) 161Keywords - Domaini, , Phylogenomic databaseseggNOGi Eukaryota LUCAGeneTreeiHOGENOMiHOVERGENiInParanoidiKOiOMAiOrthoDBiPhylomeDBiTreeFamiFamily and domain databasesGene3Di, 1 hitInterProi C1q_dom Collagen Tumour_necrosis_fac-like_domPfami C1q, 1 hit Collagen, 3 hitsPRINTSi COMPLEMNTC1QSMARTi C1Q, 1 hitSUPFAMi SSF49842, 1 hitPROSITEi C1Q, 1 hitSequenceiSequence statusi: Complete.Sequence processingi: The displayed sequence is further processed into a mature form.Q03692-1 []
50MLPQIPFLLL VSLNLVHGVF YAERYQMPTG IKGPLPNTKT QFFIPYTIKS
100KGIAVRGEQG TPGPPGPAGP RGHPGPSGPP GKPGYGSPGL QGEPGLPGPP
150GPSAVGKPGV PGLPGKPGER GPYGPKGDVG PAGLPGPRGP PGPPGIPGPA
200GISVPGKPGQ QGPTGAPGPR GFPGEKGAPG VPGMNGQKGE MGYGAPGRPG
250ERGLPGPQGP TGPSGPPGVG KRGENGVPGQ PGIKGDRGFP GEMGPIGPPG
300PQGPPGERGP EGIGKPGAAG APGQPGIPGT KGLPGAPGIA GPPGPPGFGK
350PGLPGLKGER GPAGLPGGPG AKGEQGPAGL PGKPGLTGPP GNMGPQGPKG
400IPGSHGLPGP KGETGPAGPA GYPGAKGERG SPGSDGKPGY PGKPGLDGPK
450GNPGLPGPKG DPGVGGPPGL PGPVGPAGAK GMPGHNGEAG PRGAPGIPGT
500RGPIGPPGIP GFPGSKGDPG SPGPPGPAGI ATKGLNGPTG PPGPPGPRGH
550SGEPGLPGPP GPPGPPGQAV MPEGFIKAGQ RPSLSGTPLV SANQGVTGMP
600VSAFTVILSK AYPAIGTPIP FDKILYNRQQ HYDPRTGIFT CQIPGIYYFS
650YHVHVKGTHV WVGLYKNGTP VMYTYDEYTK GYLDQASGSA IIDLTENDQV
680WLQLPNAESN GLYSSEYVHS SFSGFLVAPM
68066,158November 1, 1997 - v2Checksum:iE2F98E53E7882459BLASTProtParamProtScaleCompute pI/MWPeptideMassPeptideCutterExperimental InfoFeature keyPosition(s)DescriptionActionsGraphical viewLengthSequence conflictiH → P in
(PubMed:).1Natural variantFeature keyPosition(s)DescriptionActionsGraphical viewLengthNatural variantiVAR_001838 in SMCD. Manual assertion based on experiment ini"Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD GLU-18 AND ARG-18."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.Corresponds to variant .1Natural variantiVAR_001839 in SMCD. Manual assertion based on experiment ini"Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD GLU-18 AND ARG-18."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.Corresponds to variant .1Natural variantiVAR_023186Manual assertion based on experiment ini"The human collagen X gene. Complete primary translated sequence and chromosomal localization.", , , , , , ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT THR-27."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.Corresponds to variant .1Natural variantiVAR_048767. Corresponds to variant .1Natural variantiVAR_023187Manual assertion based on experiment ini"Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.Corresponds to variant .1Natural variantiVAR_001840Manual assertion based on experiment ini"Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.", ,
[] [] []Cited for: VARIANTS SMCD ARG-545; GLU-595; HIS-597; LYS-617; ARG-644 AND GLY-648."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.Corresponds to variant .1Natural variantiVAR_023188 in SMCD. Manual assertion based on experiment ini"Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.1Natural variantiVAR_001841 in SMCD. Manual assertion based on experiment ini"Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.", , , ,
[] [] []Cited for: VARIANT SMCD ARG-591."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.Corresponds to variant .1Natural variantiVAR_001842 in SMCD and spondylometaphyseal dysplasia Japanese type. Manual assertion based on experiment ini"Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.", ,
[] [] []Cited for: VARIANTS SMCD ARG-545; GLU-595; HIS-597; LYS-617; ARG-644 AND GLY-648."Mutation of the type X collagen gene 'COL10A1' causes spondylometaphyseal dysplasia.", , , , ,
[] [] []Cited for: VARIANT SPONDYLOMETAPHYSEAL DYSPLASIA JAPANESE TYPE GLU-595."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.Corresponds to variant .1Natural variantiVAR_023189 in SMCD. Manual assertion based on experiment ini"Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.1Natural variantiVAR_008039 in SMCD. Manual assertion based on experiment ini"Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.", , ,
[] [] []Cited for: VARIANT SMCD CYS-597."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.Corresponds to variant .1Natural variantiVAR_001843 in SMCD. Manual assertion based on experiment ini"Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.", ,
[] [] []Cited for: VARIANTS SMCD ARG-545; GLU-595; HIS-597; LYS-617; ARG-644 AND GLY-648."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.1Natural variantiVAR_001844 in SMCD. Manual assertion based on experiment ini"Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.", , , , , , , Am. J. Hum. Genet. 54:169-178(1994)
[] [] []Cited for: VARIANTS SMCD ASP-598 AND PRO-614."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.Corresponds to variant .1Natural variantiVAR_001845 in SMCD. Manual assertion based on experiment ini"Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.", , , , , , , ,
[] [] []Cited for: VARIANT SMCD PRO-600."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.Corresponds to variant .1Natural variantiVAR_023190Manual assertion based on experiment ini"Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.Corresponds to variant .1Natural variantiVAR_001846 in SMCD. Manual assertion based on experiment ini"Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.", , , , , , , Am. J. Hum. Genet. 54:169-178(1994)
[] [] []Cited for: VARIANTS SMCD ASP-598 AND PRO-614."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.Corresponds to variant .1Natural variantiVAR_001847 in SMCD. Manual assertion based on experiment ini"Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.", ,
[] [] []Cited for: VARIANTS SMCD ARG-545; GLU-595; HIS-597; LYS-617; ARG-644 AND GLY-648."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.1Natural variantiVAR_001848 in SMCD. Manual assertion based on experiment ini"Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia.", , ,
[] [] []Cited for: VARIANT SMCD VAL-618."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.1Natural variantiVAR_001849 in SMCD. Manual assertion based on experiment ini"Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.", ,
[] [] []Cited for: VARIANTS SMCD ARG-545; GLU-595; HIS-597; LYS-617; ARG-644 AND GLY-648."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.1Natural variantiVAR_001850 in SMCD. Manual assertion based on experiment ini"Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.", ,
[] [] []Cited for: VARIANTS SMCD ARG-545; GLU-595; HIS-597; LYS-617; ARG-644 AND GLY-648."Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.1Natural variantiVAR_023191 in SMCD. Manual assertion based on experiment ini"Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.Corresponds to variant .1Natural variantiVAR_023192 in SMCD. Manual assertion based on experiment ini"Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.1Natural variantiVAR_023193 in SMCD. Manual assertion based on experiment ini"Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.", , , ,
[] [] []Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671, VARIANTS THR-27; HIS-198; ARG-545 AND MET-603.Corresponds to variant .1Sequence databasesSelect the link destinations:EMBLiGenBankiDDBJi Genomic DNA Translation: ,
Genomic DNA Translation:
Genomic DNA Translation:
Genomic DNA No translation available. Genomic DNA Translation:
mRNA Translation:
mRNA Translation:
Genomic DNA Translation:
Genomic DNA Translation:
Genomic DNA Translation:
mRNA Translation: CCDSiPIRi CGHU1DRefSeqi, , , , , , UniGeneiGenome annotation databasesEnsembli; ; ; ; GeneIDiKEGGiUCSCi humanKeywords - Coding sequence diversityiSimilar proteinsi1605121616068068051680160680680680680 Genomic DNA Translation: ,
Genomic DNA Translation:
Genomic DNA Translation:
Genomic DNA No translation available. Genomic DNA Translation:
mRNA Translation:
mRNA Translation:
Genomic DNA Translation:
Genomic DNA Translation:
Genomic DNA Translation:
mRNA Translation: CCDSiPIRi CGHU1DRefSeqi, , , , , , UniGenei3D structure databasesSelect the link destinations:PDBeiRCSB PDBiPDBjiPDB entryMethodResolution (?)ChainPositionsPDBsumX-ray2.00A[]ProteinModelPortaliSMRiModBaseiMobiDBiProtein-protein interaction databasesBioGridi, 13 interactorsComplexPortali Collagen type X trimerIntActi, 8 interactorsMINTiSTRINGiPTM databasesPhosphoSitePlusiPolymorphism and mutation databasesBioMutaiDMDMiProteomic databasesPaxDbiPeptideAtlasiPRIDEiProteomicsDBiProtocols and materials databasesStructural Biology KnowledgebaseGenome annotation databasesEnsembli; ; ; ; GeneIDiKEGGiUCSCi humanOrganism-specific databasesCTDiDisGeNETiEuPathDBiGeneCardsiHGNCi COL10A1HPAiMalaCardsiMIMi gene phenotypeneXtProtiOpenTargetsiOrphaneti Metaphyseal chondrodysplasia, Schmid typePharmGKBiGenAtlasiPhylogenomic databaseseggNOGi Eukaryota LUCAGeneTreeiHOGENOMiHOVERGENiInParanoidiKOiOMAiOrthoDBiPhylomeDBiTreeFamiEnzyme and pathway databasesReactomei Collagen degradation Collagen biosynthesis and modifying enzymes Assembly of collagen fibrils and other multimeric structures Integrin cell surface interactions Non-integrin membrane-ECM interactions Collagen chain trimerizationSIGNORiMiscellaneous databasesEvolutionaryTraceiGeneWikiiGenomeRNAiiPROiSOURCEiGene expression databasesBgeeiCleanExiExpressionAtlasi baseline and differentialGenevisiblei HSFamily and domain databasesGene3Di, 1 hitInterProi C1q_dom Collagen Tumour_necrosis_fac-like_domPfami C1q, 1 hit Collagen, 3 hitsPRINTSi COMPLEMNTC1QSMARTi C1Q, 1 hitSUPFAMi SSF49842, 1 hitPROSITEi C1Q, 1 hitProtoNetiMiscellaneousiKeywords - Technical termi, , DocumentsHuman chromosome 6: entries, gene names and cross-references to MIMList of human entries with polymorphisms or disease mutationsIndex of human polymorphisms and disease mutationsOnline Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-ProtIndex of Protein Data Bank (PDB) cross-referencesWe'd like to inform you that we have updated our
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