Seroatlas · Human Serome Atlas

COL25A1

Collagen alpha-1(XXV) chain

Also known as: COPA1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9BXS0
Gene
COL25A1
Ensembl
ENSG00000188517
Chromosome
4
Canonical length
654 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Endoplasmic reticulum,Vesicles,Cytosol
Quaternary structure
Homotrimer

OverviewNCBI Gene

This gene encodes a brain-specific membrane associated collagen. A product of proteolytic processing of the encoded protein, CLAC (collagenous Alzheimer amyloid plaque component), binds to amyloid beta-peptides found in Alzheimer amyloid plaques but CLAC inhibits rather than facilitates amyloid fibril elongation (PMID: 16300410). A study of over-expression of this collagen in mice, however, found changes in pathology and behavior suggesting that the encoded protein may promote amyloid plaque formation (PMID: 19548013). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

654 residues, UniProt reviewed canonical sequence.

>Q9BXS0|COL25A1
     1  MLLKKHAGKG GGREPRSEDP TPAEQHCART MPPCAVLAAL LSVVAVVSCL YLGVKTNDLQ
    61  ARIAALESAK GAPSIHLLPD TLDHLKTMVQ EKVERLLAQK SYEHMAKIRI AREAPSECNC
   121  PAGPPGKRGK RGRRGESGPP GQPGPQGPPG PKGDKGEQGD QGPRMVFPKI NHGFLSADQQ
   181  LIKRRLIKGD QGQAGPPGPP GPPGPRGPPG DTGKDGPRGM PGVPGEPGKP GEQGLMGPLG
   241  PPGQKGSIGA PGIPGMNGQK GEPGLPGAVG QNGIPGPKGE PGEQGEKGDA GENGPKGDTG
   301  EKGDPGSSAA GIKGEPGESG RPGQKGEPGL PGLPGLPGIK GEPGFIGPQG EPGLPGLPGT
   361  KGERGEAGPP GRGERGEPGA PGPKGKQGES GTRGPKGSKG DRGEKGDSGA QGPRGPPGQK
   421  GDQGATEIID YNGNLHEALQ RITTLTVTGP PGPPGPQGLQ GPKGEQGSPG IPGMDGEQGL
   481  KGSKGDMGDP GMTGEKGGIG LPGLPGANGM KGEKGDSGMP GPQGPSIIGP PGPPGPHGPP
   541  GPMGPHGLPG PKGTDGPMGP HGPAGPKGER GEKGAMGEPG PRGPYGLPGK DGEPGLDGFP
   601  GPRGEKGDLG EKGEKGFRGV KGEKGEPGQP GLDGLDAPCQ LGPDGLPMPG CWQK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COL25A1 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
1
Mean surface accessibility (rSASA)
0.71
Highest tissue expression
20 nTPM

Expression across tissuesHPA

Tissue

  • retina: 20 nTPM
  • testis: 17 nTPM
  • pituitary gland: 7.8 nTPM
  • adipose tissue: 5.3 nTPM
  • salivary gland: 4.3 nTPM
  • breast: 2.9 nTPM

Single-cell type

  • pituicytes/fscs: 9,595 nCPM
  • rod photoreceptor cells: 946 nCPM
  • other brain neurons: 544 nCPM
  • pericytes: 447 nCPM
  • endometrial luminal cells: 282 nCPM
  • brain inhibitory neurons: 280 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • cerebral cortex: 70 nTPM
  • hippocampal formation: 40 nTPM
  • hypothalamus: 32 nTPM
  • amygdala: 31 nTPM
  • basal ganglia: 24 nTPM
  • midbrain: 23 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COL25A1.

Disease | AllUniProt

Conditions COL25A1 is implicated in, by any mechanism.

  • Fibrosis of extraocular muscles, congenital, 5 (CFEOM5) MIM:616219

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 159 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.88
gnomAD pLI
0
gnomAD missense Z
1.45
DepMap mean gene effect
-0.07
DepMap dependency class
selective

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 COL25A1 as an antibody target. Whether an autoantibody or antibody against COL25A1 could matter depends on whether native COL25A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

COL25A1 is annotated as secreted, so native COL25A1 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 COL25A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/COL25A1. 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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