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A4GALT alpha 1,4-galactosyltransferase (P blood group) [ Homo sapiens (human) ]

Gene ID: 53947, updated on 20-Sep-2020

Summary

Official Symbol
A4GALTprovided by HGNC
Official Full Name
alpha 1,4-galactosyltransferase (P blood group)provided by HGNC
Primary source
HGNC:HGNC:18149
See related
Ensembl:ENSG00000128274 MIM:607922
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
P1; PK; Gb3S; P(k); P1PK; A14GALT; A4GALT1
Summary
The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. This protein, a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
Expression
Ubiquitous expression in kidney (RPKM 6.5), fat (RPKM 5.5) and 22 other tissues See more
Orthologs

Genomic context

See A4GALT in Genome Data Viewer
Location:
22q13.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (42692115..42721301, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (43088123..43117307, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene RNA, U12 small nuclear Neighboring gene cytochrome b5 reductase 3 Neighboring gene ATP synthase membrane subunit g like Neighboring gene ribosomal protein L5 pseudogene 34 Neighboring gene GOLGA2 pseudogene 4

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

Replication interactions

Interaction Pubs
Knockdown of alpha 1,4-galactosyltransferase (A4GALT) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
galactosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
galactosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
lactosylceramide 4-alpha-galactosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
toxic substance binding IEA
Inferred from Electronic Annotation
more info
 
transferase activity, transferring hexosyl groups IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
globoside biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
glycosphingolipid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycosphingolipid biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane organization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
integral component of Golgi membrane NAS
Non-traceable Author Statement
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
lactosylceramide 4-alpha-galactosyltransferase
Names
CD77 synthase
GB3 synthase
P blood group (P one antigen)
P one antigen (P blood group)
P(k) antigen synthase
P1/Pk synthase
UDP-galactose:beta-D-galactosyl-beta1-R 4-alpha-D-galactosyltransferase
alpha 14-galactosyltransferase
alpha-1,4-N-acetylglucosaminyltransferase
alpha-1,4-galactosyltransferase
alpha4Gal-T1
globotriaosylceramide synthase
truncated alpha 1,4-galactosyltransferase
NP_001304967.1
NP_059132.1
XP_005261701.1
XP_005261703.1
XP_005261704.1
XP_005261705.1
XP_006724328.1
XP_006724329.1
XP_011528535.1
XP_016884320.1

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.

Genomic

  1. NG_007495.2 RefSeqGene

    Range
    5432..34181
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001318038.3NP_001304967.1  lactosylceramide 4-alpha-galactosyltransferase

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB037883, AK312927, BC017068, DA328721
    Consensus CDS
    CCDS14041.1
    UniProtKB/Swiss-Prot
    Q9NPC4
    UniProtKB/TrEMBL
    A0A0S2Z5J1
    Conserved Domains (2) summary
    pfam04572
    Location:227349
    Gb3_synth; Alpha 1,4-glycosyltransferase conserved region
    cl19952
    Location:94214
    Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif
  2. NM_017436.7NP_059132.1  lactosylceramide 4-alpha-galactosyltransferase

    See identical proteins and their annotated locations for NP_059132.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the supported protein. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB037883, BC017068, HY140390
    Consensus CDS
    CCDS14041.1
    UniProtKB/Swiss-Prot
    Q9NPC4
    UniProtKB/TrEMBL
    A0A0S2Z5J1
    Related
    ENSP00000494127.1, ENST00000642412.2
    Conserved Domains (2) summary
    pfam04572
    Location:227349
    Gb3_synth; Alpha 1,4-glycosyltransferase conserved region
    cl19952
    Location:94214
    Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif

RNA

  1. NR_146459.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because it lacks the entire coding region found in variant 1. This variant is described in PMID:20971946.
    Source sequence(s)
    AL049757, GU902278, HY140390
    Related
    ENST00000647439.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    42692115..42721301 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005261648.4XP_005261705.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

    See identical proteins and their annotated locations for XP_005261705.1

    UniProtKB/Swiss-Prot
    Q9NPC4
    UniProtKB/TrEMBL
    A0A0S2Z5J1
    Conserved Domains (2) summary
    pfam04572
    Location:227349
    Gb3_synth; Alpha 1,4-glycosyltransferase conserved region
    cl19952
    Location:94214
    Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif
  2. XM_005261647.3XP_005261704.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

    See identical proteins and their annotated locations for XP_005261704.1

    UniProtKB/Swiss-Prot
    Q9NPC4
    UniProtKB/TrEMBL
    A0A0S2Z5J1
    Related
    ENSP00000370678.3, ENST00000381278.4
    Conserved Domains (2) summary
    pfam04572
    Location:227349
    Gb3_synth; Alpha 1,4-glycosyltransferase conserved region
    cl19952
    Location:94214
    Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif
  3. XM_005261644.2XP_005261701.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

    See identical proteins and their annotated locations for XP_005261701.1

    UniProtKB/Swiss-Prot
    Q9NPC4
    UniProtKB/TrEMBL
    A0A0S2Z5J1
    Conserved Domains (2) summary
    pfam04572
    Location:227349
    Gb3_synth; Alpha 1,4-glycosyltransferase conserved region
    cl19952
    Location:94214
    Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif
  4. XM_006724266.3XP_006724329.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

    See identical proteins and their annotated locations for XP_006724329.1

    UniProtKB/Swiss-Prot
    Q9NPC4
    UniProtKB/TrEMBL
    A0A0S2Z5J1
    Conserved Domains (2) summary
    pfam04572
    Location:227349
    Gb3_synth; Alpha 1,4-glycosyltransferase conserved region
    cl19952
    Location:94214
    Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif
  5. XM_006724265.3XP_006724328.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

    See identical proteins and their annotated locations for XP_006724328.1

    UniProtKB/Swiss-Prot
    Q9NPC4
    UniProtKB/TrEMBL
    A0A0S2Z5J1
    Conserved Domains (2) summary
    pfam04572
    Location:227349
    Gb3_synth; Alpha 1,4-glycosyltransferase conserved region
    cl19952
    Location:94214
    Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif
  6. XM_017028831.1XP_016884320.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

    UniProtKB/Swiss-Prot
    Q9NPC4
    UniProtKB/TrEMBL
    A0A0S2Z5J1
    Conserved Domains (2) summary
    pfam04572
    Location:227349
    Gb3_synth; Alpha 1,4-glycosyltransferase conserved region
    cl19952
    Location:94214
    Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif
  7. XM_005261646.4XP_005261703.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

    See identical proteins and their annotated locations for XP_005261703.1

    UniProtKB/Swiss-Prot
    Q9NPC4
    UniProtKB/TrEMBL
    A0A0S2Z5J1
    Conserved Domains (2) summary
    pfam04572
    Location:227349
    Gb3_synth; Alpha 1,4-glycosyltransferase conserved region
    cl19952
    Location:94214
    Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif
  8. XM_011530233.2XP_011528535.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

    See identical proteins and their annotated locations for XP_011528535.1

    UniProtKB/Swiss-Prot
    Q9NPC4
    UniProtKB/TrEMBL
    A0A0S2Z5J1
    Related
    ENSP00000384794.1, ENST00000401850.5
    Conserved Domains (2) summary
    pfam04572
    Location:227349
    Gb3_synth; Alpha 1,4-glycosyltransferase conserved region
    cl19952
    Location:94214
    Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif
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