Seroatlas · Human Serome Atlas

COLGALT1

Procollagen galactosyltransferase 1

Also known as: FLJ22329, GLT25D1, GT251_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q8NBJ5
Gene
COLGALT1
Ensembl
ENSG00000130309
Chromosome
19
Canonical length
622 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Golgi apparatus,Vesicles
Secretome location
Intracellular and membrane

OverviewNCBI Gene

The protein encoded by this gene is one of two enzymes that transfers galactose moieties to hydroxylysine residues of collagen and mannose binding lectin. This gene is constitutively expressed and encodes a soluble protein that localizes to the endoplasmic reticulum. [provided by RefSeq, Dec 2015]

Canonical amino-acid sequenceUniProt

622 residues, UniProt reviewed canonical sequence.

>Q8NBJ5|COLGALT1
     1  MAAAPRAGRR RGQPLLALLL LLLAPLPPGA PPGADAYFPE ERWSPESPLQ APRVLIALLA
    61  RNAAHALPTT LGALERLRHP RERTALWVAT DHNMDNTSTV LREWLVAVKS LYHSVEWRPA
   121  EEPRSYPDEE GPKHWSDSRY EHVMKLRQAA LKSARDMWAD YILFVDADNL ILNPDTLSLL
   181  IAENKTVVAP MLDSRAAYSN FWCGMTSQGY YKRTPAYIPI RKRDRRGCFA VPMVHSTFLI
   241  DLRKAASRNL AFYPPHPDYT WSFDDIIVFA FSCKQAEVQM YVCNKEEYGF LPVPLRAHST
   301  LQDEAESFMH VQLEVMVKHP PAEPSRFISA PTKTPDKMGF DEVFMINLRR RQDRRERMLR
   361  ALQAQEIECR LVEAVDGKAM NTSQVEALGI QMLPGYRDPY HGRPLTKGEL GCFLSHYNIW
   421  KEVVDRGLQK SLVFEDDLRF EIFFKRRLMN LMRDVEREGL DWDLIYVGRK RMQVEHPEKA
   481  VPRVRNLVEA DYSYWTLAYV ISLQGARKLL AAEPLSKMLP VDEFLPVMFD KHPVSEYKAH
   541  FSLRNLHAFS VEPLLIYPTH YTGDDGYVSD TETSVVWNNE HVKTDWDRAK SQKMREQQAL
   601  SREAKNSDVL QSPLDSAARD EL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COLGALT1 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.26
Highest tissue expression
32 nTPM

Expression across tissuesHPA

Tissue

  • adipose tissue: 32 nTPM
  • blood vessel: 32 nTPM
  • placenta: 29 nTPM
  • spleen: 28 nTPM
  • smooth muscle: 26 nTPM
  • lung: 26 nTPM

Single-cell type

  • hofbauer cells: 121 nCPM
  • extravillous trophoblasts: 109 nCPM
  • monocytes: 101 nCPM
  • macrophages: 97 nCPM
  • kupffer cells: 93 nCPM
  • pdcs: 77 nCPM

Immune cell

  • intermediate monocyte: 27 nTPM
  • classical monocyte: 23 nTPM
  • non-classical monocyte: 20 nTPM
  • myeloid DC: 17 nTPM
  • total PBMC: 14 nTPM
  • eosinophil: 11 nTPM

Brain region

  • thalamus: 21 nTPM
  • white matter: 17 nTPM
  • pons: 15 nTPM
  • choroid plexus: 14 nTPM
  • medulla oblongata: 13 nTPM
  • spinal cord: 12 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COLGALT1.

Disease | AllUniProt

Conditions COLGALT1 is implicated in, by any mechanism.

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 331 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
0.52
DepMap mean gene effect
-0.12
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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

InteractionsUniProt · HPA

Protein binding partners of COLGALT1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads COLGALT1 as an antibody target. Whether an autoantibody or antibody against COLGALT1 could matter depends on whether native COLGALT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

COLGALT1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label COLGALT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/COLGALT1. 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).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...