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B3GALT5 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 [ Homo sapiens (human) ]

Gene ID: 10317, updated on 18-Jul-2015
Official Symbol
B3GALT5provided by HGNC
Official Full Name
UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5provided by HGNC
Primary source
HGNC:HGNC:920
See related
Ensembl:ENSG00000183778; HPRD:06818; MIM:604066; Vega:OTTHUMG00000086725
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
B3T5; GLCT5; B3GalTx; B3GalT-V; beta3Gal-T5; beta-3-Gx-T5; beta-1,3-GalTase 5
Summary
This gene encodes a member of a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alternatively spliced transcript variants have been observed for this gene, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2013]
Orthologs
See B3GALT5 in Epigenomics, MapViewer
Location:
21q22.3
Exon count:
5
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 21 NC_000021.9 (39612940..39662889)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (40928369..41034816)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene KIAA1462 pseudogene Neighboring gene B3GALT5 antisense RNA 1 Neighboring gene uncharacterized LOC105372805 Neighboring gene immunoglobulin superfamily, member 5 Neighboring gene Purkinje cell protein 4

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study of suicide attempts in mood disorder patients.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus PubMed

Go to the HIV-1, Human Interaction Database

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
beta-1,3-galactosyltransferase 5
Names
UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 5
beta-3-galactosyltransferase 5
homolog of C. elegans Bt toxin resistance gene bre-5
NP_001265579.1
NP_006048.1
NP_149360.1
NP_149361.1
NP_149362.2

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_001278650.1NP_001265579.1  beta-1,3-galactosyltransferase 5 isoform a

    See identical proteins and their annotated locations for NP_001265579.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks the 5' exon and contains an alternate 5' exon, compared to variant 1. It represents use of an alternate upstream promoter. Variants 1, 2, 3, and 6 encode the same isoform (a).
    Source sequence(s)
    AB020337, AK292951, AW136254
    Consensus CDS
    CCDS13667.1
    UniProtKB/Swiss-Prot
    Q9Y2C3
    Related
    ENSP00000480285, ENST00000615480
    Conserved Domains (1) summary
    cl21608
    Location:71261
    Galactosyl_T; Galactosyltransferase
  2. NM_006057.2NP_006048.1  beta-1,3-galactosyltransferase 5 isoform a

    See identical proteins and their annotated locations for NP_006048.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform a. Variants 1, 2, 3, and 6 encode the same isoform (a).
    Source sequence(s)
    AB020337, AU100432, AW136254
    Consensus CDS
    CCDS13667.1
    UniProtKB/Swiss-Prot
    Q9Y2C3
    Related
    ENSP00000369992, OTTHUMP00000109186, ENST00000380618, OTTHUMT00000195009
    Conserved Domains (1) summary
    cl21608
    Location:71261
    Galactosyl_T; Galactosyltransferase
  3. NM_033170.2NP_149360.1  beta-1,3-galactosyltransferase 5 isoform a

    See identical proteins and their annotated locations for NP_149360.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1, 2, 3, and 6 encode the same isoform (a).
    Source sequence(s)
    AB020337, AU100432, AW136254
    Consensus CDS
    CCDS13667.1
    UniProtKB/Swiss-Prot
    Q9Y2C3
    Conserved Domains (1) summary
    cl21608
    Location:71261
    Galactosyl_T; Galactosyltransferase
  4. NM_033171.2NP_149361.1  beta-1,3-galactosyltransferase 5 isoform a

    See identical proteins and their annotated locations for NP_149361.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR, compared to variant 1. Variants 1, 2, 3, and 6 encode the same isoform (a).
    Source sequence(s)
    AB020337, AF064860, AU100432, AW136254
    Consensus CDS
    CCDS13667.1
    UniProtKB/Swiss-Prot
    Q9Y2C3
    Related
    ENSP00000343318, ENST00000343118
    Conserved Domains (1) summary
    cl21608
    Location:71261
    Galactosyl_T; Galactosyltransferase
  5. NM_033172.2NP_149362.2  beta-1,3-galactosyltransferase 5 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a longer N-terminus, compared to isoform a.
    Source sequence(s)
    AB020337, AF064860, AU100432, AW136254
    Consensus CDS
    CCDS74795.1
    UniProtKB/TrEMBL
    A0A0A0MS93
    UniProtKB/Swiss-Prot
    Q9Y2C3
    Conserved Domains (1) summary
    cl21608
    Location:75265
    Galactosyl_T; Galactosyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p2 Primary Assembly

    Range
    39612940..39662889
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018932.2 Alternate CHM1_1.1

    Range
    40545618..40595561
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_033173.1: Suppressed sequence

    Description
    NM_033173.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.