GAL3ST4 galactose-3-O-sulfotransferase 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GAL3ST4provided by HGNC
Official Full Name: galactose-3-O-sulfotransferase 4provided by HGNC
Primary source: HGNC:HGNC:24145
See related: Ensembl:ENSG00000197093 MIM:608235; AllianceGenome:HGNC:24145
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: GAL3ST-4
Summary: This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate to the C-3' position of galactose residues in O-linked glycoproteins. This enzyme is highly specific for core 1 structures, with asialofetuin, Gal-beta-1,3-GalNAc and Gal-beta-1,3 (GlcNAc-beta-1,6)GalNAc being good substrates. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in skin (RPKM 11.3), salivary gland (RPKM 5.3) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q22.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (100159244..100168617, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (101399037..101408410, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (99756867..99766240, complement)

Chromosome 7 - NC_000007.14 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?

the GAL3ST4 and the CHGB allele variants 23 and 48 are novel genetic loci involved in susceptibility to leprosy among female and male population, respectively
Title: Identification of novel genetic loci GAL3ST4 and CHGB involved in susceptibility to leprosy.
we found that loss of Gpr126 upregulated the expression of Gal3st4, a gene implicated in human PE, encoding Galactose-3-O-sulfotransferase 4
Title: Gpr126/Adgrg6 deletion in cartilage models idiopathic scoliosis and pectus excavatum in mice.
The genetic mutation of GAL3ST4 affects the functions of the encoded protein.
Title: Evidence for GAL3ST4 mutation as the potential cause of pectus excavatum.
Gal3ST-4 is a substrate for the mucin core-2 trisaccharide
Title: Identification of physiologically relevant substrates for cloned Gal: 3-O-sulfotransferases (Gal3STs): distinct high affinity of Gal3ST-2 and LS180 sulfotransferase for the globo H backbone, Gal3ST-3 for N-glycan multiterminal Galbeta1, 4GlcNAcbeta units and 6-sulfoGalbeta1, 4GlcNAcbeta, and Gal3ST-4 for the mucin core-2 trisaccharide.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3'-phosphoadenosine 5'-phosphosulfate binding	NAS Non-traceable Author Statement more info	PubMed
enables galactose 3-O-sulfotransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables galactose 3-O-sulfotransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables galactosylceramide sulfotransferase activity	IEA Inferred from Electronic Annotation more info
enables proteoglycan sulfotransferase activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cell-cell signaling	NAS Non-traceable Author Statement more info	PubMed
involved_in glycolipid biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within glycoprotein biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glycoprotein metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in oligosaccharide metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in proteoglycan biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
involved_in sulfur compound metabolic process	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi cisterna membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: galactose-3-O-sulfotransferase 4

Names: beta-galactose-3-O-sulfotransferase 4; gal-beta-1,3-GalNAc 3'-sulfotransferase

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.