Seroatlas · Human Serome Atlas

COL10A1

Collagen alpha-1(X) chain

Also known as: COAA1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q03692
Gene
COL10A1
Ensembl
ENSG00000123500
Chromosome
6
Canonical length
680 aa
Protein class
Disease related genes, Human disease related genes, Predicted secreted proteins
Subcellular location
Endoplasmic reticulum
Secretome location
Secreted to extracellular matrix
Quaternary structure
Homotrimer

OverviewNCBI Gene

This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD). [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

680 residues, UniProt reviewed canonical sequence.

>Q03692|COL10A1
     1  MLPQIPFLLL VSLNLVHGVF YAERYQMPTG IKGPLPNTKT QFFIPYTIKS KGIAVRGEQG
    61  TPGPPGPAGP RGHPGPSGPP GKPGYGSPGL QGEPGLPGPP GPSAVGKPGV PGLPGKPGER
   121  GPYGPKGDVG PAGLPGPRGP PGPPGIPGPA GISVPGKPGQ QGPTGAPGPR GFPGEKGAPG
   181  VPGMNGQKGE MGYGAPGRPG ERGLPGPQGP TGPSGPPGVG KRGENGVPGQ PGIKGDRGFP
   241  GEMGPIGPPG PQGPPGERGP EGIGKPGAAG APGQPGIPGT KGLPGAPGIA GPPGPPGFGK
   301  PGLPGLKGER GPAGLPGGPG AKGEQGPAGL PGKPGLTGPP GNMGPQGPKG IPGSHGLPGP
   361  KGETGPAGPA GYPGAKGERG SPGSDGKPGY PGKPGLDGPK GNPGLPGPKG DPGVGGPPGL
   421  PGPVGPAGAK GMPGHNGEAG PRGAPGIPGT RGPIGPPGIP GFPGSKGDPG SPGPPGPAGI
   481  ATKGLNGPTG PPGPPGPRGH SGEPGLPGPP GPPGPPGQAV MPEGFIKAGQ RPSLSGTPLV
   541  SANQGVTGMP VSAFTVILSK AYPAIGTPIP FDKILYNRQQ HYDPRTGIFT CQIPGIYYFS
   601  YHVHVKGTHV WVGLYKNGTP VMYTYDEYTK GYLDQASGSA IIDLTENDQV WLQLPNAESN
   661  GLYSSEYVHS SFSGFLVAPM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COL10A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Secreted
Secreted
Yes
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.65
Highest tissue expression
8.3 nTPM

Expression across tissuesHPA

Tissue

  • gallbladder: 8.3 nTPM
  • ovary: 5.5 nTPM
  • pancreas: 3.1 nTPM
  • lung: 2.7 nTPM
  • parathyroid gland: 2.4 nTPM
  • salivary gland: 2.4 nTPM

Single-cell type

  • cardiomyocytes: 587 nCPM
  • epicardial cells: 152 nCPM
  • adipocytes: 111 nCPM
  • myonuclei: 100 nCPM
  • medullary thymic epithelial cells: 38 nCPM
  • cone photoreceptor cells: 37 nCPM

Immune cell

  • neutrophil: 0.4 nTPM
  • naive B-cell: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM

Brain region

  • choroid plexus: 95 nTPM
  • white matter: 41 nTPM
  • basal ganglia: 28 nTPM
  • medulla oblongata: 27 nTPM
  • pons: 25 nTPM
  • thalamus: 23 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COL10A1.

Disease | AllUniProt

Conditions COL10A1 is implicated in, by any mechanism.

  • Schmid type metaphyseal chondrodysplasia (SMCD) MIM:156500

Disease | GeneticClinVar

79 pathogenic / likely-pathogenic of 552 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Metaphyseal chondrodysplasia, Schmid type
  • COL10A1-related disorder
  • See cases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.95
gnomAD pLI
0
gnomAD missense Z
-1.15
DepMap mean gene effect
0.11
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads COL10A1 as an antibody target. Whether an autoantibody or antibody against COL10A1 could matter depends on whether native COL10A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

COL10A1 is annotated as secreted, so native COL10A1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label COL10A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/COL10A1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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