Details for: COL10A1

Gene ID: 1300

Symbol: COL10A1

Ensembl ID: ENSG00000123500

Description: collagen type X alpha 1 chain

Associated with

Other Information

Genular Protein ID: 403753198

Symbol: COAA1_HUMAN

Name: Collagen alpha-1(X) chain

UniProtKB Accession Codes:

Q03692 A1L4P2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 5 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 12 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 10 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 1 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 6 RefSeq 6 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1764025

Title: The human collagen X gene. Complete primary translated sequence and chromosomal localization.

PubMed ID: 1764025

DOI: 10.1042/bj2800617

PubMed ID: 1397333

Title: Genomic organization and full-length cDNA sequence of human collagen X.

PubMed ID: 1397333

DOI: 10.1016/0014-5793(92)81126-7

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1587271

Title: Cloning of the human and mouse type X collagen genes and mapping of the mouse type X collagen gene to chromosome 10.

PubMed ID: 1587271

DOI: 10.1111/j.1432-1033.1992.tb16919.x

PubMed ID: 2037056

Title: Cloning of human alpha 1(X) collagen DNA and localization of the COL10A1 gene to the q21-q22 region of human chromosome 6.

PubMed ID: 2037056

DOI: 10.1016/0014-5793(91)80521-4

PubMed ID: 1743401

Title: In situ hybridization studies on the expression of type X collagen in fetal human cartilage.

PubMed ID: 1743401

DOI: 10.1016/0012-1606(91)90274-7

PubMed ID: 11839302

Title: Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer.

PubMed ID: 11839302

DOI: 10.1016/s0969-2126(02)00697-4

PubMed ID: 9101290

Title: Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.

PubMed ID: 9101290

DOI: 10.1002/(sici)1098-1004(1997)9:4<300::aid-humu2>3.0.co;2-9

PubMed ID: 8304336

Title: 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.

PubMed ID: 8304336

PubMed ID: 8004099

Title: Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.

PubMed ID: 8004099

DOI: 10.1093/hmg/3.2.303

PubMed ID: 7876225

Title: 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.

PubMed ID: 7876225

DOI: 10.1074/jbc.270.9.4558

PubMed ID: 7607655

Title: Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.

PubMed ID: 7607655

DOI: 10.1007/bf00214187

PubMed ID: 8782043

Title: 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.

PubMed ID: 8782043

DOI: 10.1136/jmg.33.6.450

PubMed ID: 9067753

Title: Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with schmid metaphyseal chondrodysplasia.

PubMed ID: 9067753

DOI: 10.1002/(sici)1098-1004(1997)9:2<131::aid-humu5>3.0.co;2-c

PubMed ID: 9837818

Title: Mutation of the type X collagen gene 'COL10A1' causes spondylometaphyseal dysplasia.

PubMed ID: 9837818

DOI: 10.1086/302158

PubMed ID: 9852679

Title: 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.

PubMed ID: 9852679

DOI: 10.1007/s100380050085

PubMed ID: 15880705

Title: Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

PubMed ID: 15880705

DOI: 10.1002/humu.20183

Sequence Information:

  • Length: 680
  • Mass: 66158
  • Checksum: E2F98E53E7882459
  • Sequence:
    • MLPQIPFLLL VSLNLVHGVF YAERYQMPTG IKGPLPNTKT QFFIPYTIKS KGIAVRGEQG 
TPGPPGPAGP RGHPGPSGPP GKPGYGSPGL QGEPGLPGPP GPSAVGKPGV PGLPGKPGER 
GPYGPKGDVG PAGLPGPRGP PGPPGIPGPA GISVPGKPGQ QGPTGAPGPR GFPGEKGAPG 
VPGMNGQKGE MGYGAPGRPG ERGLPGPQGP TGPSGPPGVG KRGENGVPGQ PGIKGDRGFP 
GEMGPIGPPG PQGPPGERGP EGIGKPGAAG APGQPGIPGT KGLPGAPGIA GPPGPPGFGK 
PGLPGLKGER GPAGLPGGPG AKGEQGPAGL PGKPGLTGPP GNMGPQGPKG IPGSHGLPGP 
KGETGPAGPA GYPGAKGERG SPGSDGKPGY PGKPGLDGPK GNPGLPGPKG DPGVGGPPGL 
PGPVGPAGAK GMPGHNGEAG PRGAPGIPGT RGPIGPPGIP GFPGSKGDPG SPGPPGPAGI 
ATKGLNGPTG PPGPPGPRGH SGEPGLPGPP GPPGPPGQAV MPEGFIKAGQ RPSLSGTPLV 
SANQGVTGMP VSAFTVILSK AYPAIGTPIP FDKILYNRQQ HYDPRTGIFT CQIPGIYYFS 
YHVHVKGTHV WVGLYKNGTP VMYTYDEYTK GYLDQASGSA IIDLTENDQV WLQLPNAESN 
GLYSSEYVHS SFSGFLVAPM

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.