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COLGALT1 collagen beta(1-O)galactosyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 79709, updated on 5-Jul-2020

Summary

Official Symbol
COLGALT1provided by HGNC
Official Full Name
collagen beta(1-O)galactosyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:26182
See related
Ensembl:ENSG00000130309 MIM:617531
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BSVD3; GLT25D1; ColGalT 1
Summary
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]
Expression
Ubiquitous expression in placenta (RPKM 27.5), appendix (RPKM 22.9) and 25 other tissues See more
Orthologs

Genomic context

See COLGALT1 in Genome Data Viewer
Location:
19p13.11
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (17555649..17583159)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17666511..17693968)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 27 member 1 Neighboring gene uncharacterized LOC100507551 Neighboring gene 6-phosphogluconolactonase Neighboring gene niban apoptosis regulator 3 Neighboring gene Sharpr-MPRA regulatory region 8704 Neighboring gene ribosomal protein L21 pseudogene 130 Neighboring gene unc-13 homolog A

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Addition of peripheral sugar residues such as galactose, N-acetylglucosamine, and sialic acid to HIV-1 gp120 is processed by specific glycosyltransferase PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22329, MGC117270

Gene Ontology Provided by GOA

Function Evidence Code Pubs
procollagen galactosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
procollagen galactosyltransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
procollagen galactosyltransferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
positive regulation of collagen fibril organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum lumen IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 

General protein information

Preferred Names
procollagen galactosyltransferase 1
Names
glycosyltransferase 25 domain containing 1
glycosyltransferase 25 family member 1
hydroxylysine galactosyltransferase 1
NP_078932.2
XP_005260137.1
XP_011526599.1
XP_011526600.1
XP_011526601.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_024656.4NP_078932.2  procollagen galactosyltransferase 1 precursor

    See identical proteins and their annotated locations for NP_078932.2

    Status: REVIEWED

    Source sequence(s)
    AC010618, AK074941, AK075541, BU628916
    Consensus CDS
    CCDS12363.1
    UniProtKB/Swiss-Prot
    Q8NBJ5
    Related
    ENSP00000252599.3, ENST00000252599.9
    Conserved Domains (2) summary
    cd00761
    Location:56185
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
    cl01298
    Location:340525
    Glyco_transf_25; Glycosyltransferase family 25 [lipooligosaccharide (LOS) biosynthesis protein] is a family of glycosyltransferases involved in LOS biosynthesis. The members include the beta(1,4) galactosyltransferases: Lgt2 of Moraxella catarrhalis, LgtB and LgtE of ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    17555649..17583159
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005260080.4XP_005260137.1  procollagen galactosyltransferase 1 isoform X1

    Conserved Domains (2) summary
    cl01298
    Location:257442
    Glyco_transf_25; Glycosyltransferase family 25 [lipooligosaccharide (LOS) biosynthesis protein] is a family of glycosyltransferases involved in LOS biosynthesis. The members include the beta(1,4) galactosyltransferases: Lgt2 of Moraxella catarrhalis, LgtB and LgtE of ...
    cl11394
    Location:492
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
  2. XM_011528298.2XP_011526600.1  procollagen galactosyltransferase 1 isoform X2

    See identical proteins and their annotated locations for XP_011526600.1

    Conserved Domains (1) summary
    cl01298
    Location:247432
    Glyco_transf_25; Glycosyltransferase family 25 [lipooligosaccharide (LOS) biosynthesis protein] is a family of glycosyltransferases involved in LOS biosynthesis. The members include the beta(1,4) galactosyltransferases: Lgt2 of Moraxella catarrhalis, LgtB and LgtE of ...
  3. XM_011528297.2XP_011526599.1  procollagen galactosyltransferase 1 isoform X2

    See identical proteins and their annotated locations for XP_011526599.1

    Conserved Domains (1) summary
    cl01298
    Location:247432
    Glyco_transf_25; Glycosyltransferase family 25 [lipooligosaccharide (LOS) biosynthesis protein] is a family of glycosyltransferases involved in LOS biosynthesis. The members include the beta(1,4) galactosyltransferases: Lgt2 of Moraxella catarrhalis, LgtB and LgtE of ...
  4. XM_011528299.3XP_011526601.1  procollagen galactosyltransferase 1 isoform X3

    Conserved Domains (1) summary
    cl01298
    Location:61246
    Glyco_transf_25; Glycosyltransferase family 25 [lipooligosaccharide (LOS) biosynthesis protein] is a family of glycosyltransferases involved in LOS biosynthesis. The members include the beta(1,4) galactosyltransferases: Lgt2 of Moraxella catarrhalis, LgtB and LgtE of ...
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