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

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; AllianceGenome:HGNC:26182
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: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (17555649..17583157)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (17690267..17717783)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (17666458..17693966)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Involvement of LH3 and GLT25D1 for glucosyl-galactosyl-hydroxylation on non-collagen-like domain of FGL1.
Title: Involvement of LH3 and GLT25D1 for glucosyl-galactosyl-hydroxylation on non-collagen-like domain of FGL1.
GLT25D1 regulates HMW adiponectin secretion.
Title: Collagen beta (1-O) galactosyltransferase 1 (GLT25D1) is required for the secretion of high molecular weight adiponectin and affects lipid accumulation.
Loss of GLT25D1 led to increased expression and intracellular accumulation of collagen type I, whereas loss of GLT25D2 had no effect on collagen secretion. Inactivation of the GLT25D1 gene resulted in a compensatory induction of GLT25D2 expression.
Title: Collagen Accumulation in Osteosarcoma Cells lacking GLT25D1 Collagen Galactosyltransferase.
introduced substitution Q471R-V472M-N473Q-P474V in the CEECAM1-C-terminal construct, which is found in most animal GLT25D1 and GLT25D2 isoforms but not in CEECAM1. This substitution was shown to partially restore collagen galactosyltransferase activity
Title: Identification of domains and amino acids essential to the collagen galactosyltransferase activity of GLT25D1.
Data indicate that galactosylation of collagenous proteins by the soluble GLT25D1 occurs in the early secretory pathway
Title: The human collagen beta(1-O)galactosyltransferase, GLT25D1, is a soluble endoplasmic reticulum localized protein.
Two collagen beta(1-O)galactosyltransferases corresponding to the GLT25D1 and GLT25D2 proteins were identified.
Title: Core glycosylation of collagen is initiated by two beta(1-O)galactosyltransferases.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Brain small vessel disease 3 MedGen: C5193053 OMIM: 618360 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D19S667E (e-PCR)
- UniSTS:150575

D1S1361 (e-PCR)
- UniSTS:149557

D19S1017 (e-PCR)
- UniSTS:5998

STS-AA028143 (e-PCR)
- UniSTS:63101

D11S3114 (e-PCR)
- UniSTS:152207

D19S622E (e-PCR)
- UniSTS:32687

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables procollagen galactosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables procollagen galactosyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables procollagen galactosyltransferase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in collagen fibril organization	TAS Traceable Author Statement more info
involved_in positive regulation of collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum lumen	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: procollagen galactosyltransferase 1

Names: glycosyltransferase 25 domain containing 1; glycosyltransferase 25 family member 1; hydroxylysine galactosyltransferase 1

NP_078932.2

EC 2.4.1.50

XP_005260137.1

EC 2.4.1.50

XP_011526599.1

EC 2.4.1.50

XP_011526601.1

EC 2.4.1.50

XP_054178144.1

EC 2.4.1.50

XP_054178145.1

EC 2.4.1.50

XP_054178146.1

EC 2.4.1.50

NCBI Reference Sequences (RefSeq)

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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)

NM_024656.4 → NP_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, Q8NC64

Related

ENSP00000252599.3, ENST00000252599.9

Conserved Domains (2) summary

cd00761
Location:56 → 185

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:340 → 525

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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

17555649..17583157

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005260080.5 → XP_005260137.1 procollagen galactosyltransferase 1 isoform X1

Conserved Domains (2) summary

cl01298
Location:257 → 442

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:4 → 92

Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
XM_011528297.3 → XP_011526599.1 procollagen galactosyltransferase 1 isoform X2

See identical proteins and their annotated locations for XP_011526599.1

Conserved Domains (1) summary

cl01298
Location:247 → 432

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 ...
XM_011528299.4 → XP_011526601.1 procollagen galactosyltransferase 1 isoform X3

Conserved Domains (1) summary

cl01298
Location:61 → 246

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 ...