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    A4GALT alpha 1,4-galactosyltransferase (P1PK blood group) [ Homo sapiens (human) ]

    Gene ID: 53947, updated on 17-Jun-2024

    Summary

    Official Symbol
    A4GALTprovided by HGNC
    Official Full Name
    alpha 1,4-galactosyltransferase (P1PK blood group)provided by HGNC
    Primary source
    HGNC:HGNC:18149
    See related
    Ensembl:ENSG00000128274 MIM:607922; AllianceGenome:HGNC:18149
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See A4GALT in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (42692121..42721301, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (43172985..43202215, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (43088127..43117307, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:43010741-43011284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19175 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43019599-43020153 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43027517-43028018 Neighboring gene RNA, U12 small nuclear Neighboring gene cytochrome b5 reductase 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43032221-43032758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43032759-43033294 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43040225-43041216 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13835 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:43045573-43046386 Neighboring gene ATP synthase membrane subunit g like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13837 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13838 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13839 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43082077-43082968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43082969-43083858 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43083859-43084750 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43089063-43089584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43089979-43090480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43090481-43090980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43094281-43094964 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43094965-43095648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43097017-43097700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43098815-43099314 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:43103268-43103479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13841 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:43136606-43137182 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43138337-43138912 Neighboring gene Sharpr-MPRA regulatory region 8887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43139489-43140064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43144579-43145140 Neighboring gene Sharpr-MPRA regulatory region 987 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:43165586-43165772 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13843 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acetylglucosaminyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables galactosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables galactosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables lactosylceramide 4-alpha-galactosyltransferase activity TAS
    Traceable Author Statement
    more info
     
    enables toxic substance binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in globoside biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycosphingolipid biosynthetic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in glycosphingolipid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    acts_upstream_of_or_within plasma membrane organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein O-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in Golgi membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    located_in 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 1,4-galactosyltransferase (P blood group)
    alpha 14-galactosyltransferase
    alpha-1,4-N-acetylglucosaminyltransferase
    alpha-1,4-galactosyltransferase
    alpha4Gal-T1
    globotriaosylceramide synthase
    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
    XP_047297368.1
    XP_054181683.1
    XP_054181684.1
    XP_054181685.1
    XP_054181686.1
    XP_054181687.1
    XP_054181688.1
    XP_054181689.1
    XP_054181690.1
    XP_054181691.1
    XP_054181692.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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), LRG_795

    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
      B2R7C4, Q9NPC4, Q9P1X5
      UniProtKB/TrEMBL
      A0A0S2Z5J1, A9XEA7, B0L3P6, I6S6F0, Q540I5, Q540I6, Q6RJV9, Q6RJW0, Q6RJW1, Q7Z2I1
      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
      B2R7C4, Q9NPC4, Q9P1X5
      UniProtKB/TrEMBL
      A0A0S2Z5J1, A9XEA7, B0L3P6, I6S6F0, Q540I5, Q540I6, Q6RJV9, Q6RJW0, Q6RJW1, Q7Z2I1
      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: 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

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      42692121..42721301 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005261648.5XP_005261705.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

      See identical proteins and their annotated locations for XP_005261705.1

      UniProtKB/Swiss-Prot
      B2R7C4, Q9NPC4, Q9P1X5
      UniProtKB/TrEMBL
      A0A0S2Z5J1, A9XEA7, B0L3P6, I6S6F0, Q540I5, Q540I6, Q6RJV9, Q6RJW0, Q6RJW1, Q7Z2I1
      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_047441412.1XP_047297368.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

      UniProtKB/Swiss-Prot
      B2R7C4, Q9NPC4, Q9P1X5
      UniProtKB/TrEMBL
      A0A0S2Z5J1, A9XEA7, B0L3P6, I6S6F0, Q540I5, Q540I6, Q6RJV9, Q6RJW0, Q6RJW1, Q7Z2I1
    3. XM_005261647.4XP_005261704.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

      See identical proteins and their annotated locations for XP_005261704.1

      UniProtKB/Swiss-Prot
      B2R7C4, Q9NPC4, Q9P1X5
      UniProtKB/TrEMBL
      A0A0S2Z5J1, A9XEA7, B0L3P6, I6S6F0, Q540I5, Q540I6, Q6RJV9, Q6RJW0, Q6RJW1, Q7Z2I1
      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
    4. XM_005261644.3XP_005261701.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

      See identical proteins and their annotated locations for XP_005261701.1

      UniProtKB/Swiss-Prot
      B2R7C4, Q9NPC4, Q9P1X5
      UniProtKB/TrEMBL
      A0A0S2Z5J1, A9XEA7, B0L3P6, I6S6F0, Q540I5, Q540I6, Q6RJV9, Q6RJW0, Q6RJW1, Q7Z2I1
      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_017028831.2XP_016884320.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

      UniProtKB/Swiss-Prot
      B2R7C4, Q9NPC4, Q9P1X5
      UniProtKB/TrEMBL
      A0A0S2Z5J1, A9XEA7, B0L3P6, I6S6F0, Q540I5, Q540I6, Q6RJV9, Q6RJW0, Q6RJW1, Q7Z2I1
      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_005261646.5XP_005261703.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

      See identical proteins and their annotated locations for XP_005261703.1

      UniProtKB/Swiss-Prot
      B2R7C4, Q9NPC4, Q9P1X5
      UniProtKB/TrEMBL
      A0A0S2Z5J1, A9XEA7, B0L3P6, I6S6F0, Q540I5, Q540I6, Q6RJV9, Q6RJW0, Q6RJW1, Q7Z2I1
      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_011530233.3XP_011528535.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

      See identical proteins and their annotated locations for XP_011528535.1

      UniProtKB/Swiss-Prot
      B2R7C4, Q9NPC4, Q9P1X5
      UniProtKB/TrEMBL
      A0A0S2Z5J1, A9XEA7, B0L3P6, I6S6F0, Q540I5, Q540I6, Q6RJV9, Q6RJW0, Q6RJW1, Q7Z2I1
      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
    8. XM_006724266.4XP_006724329.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

      See identical proteins and their annotated locations for XP_006724329.1

      UniProtKB/Swiss-Prot
      B2R7C4, Q9NPC4, Q9P1X5
      UniProtKB/TrEMBL
      A0A0S2Z5J1, A9XEA7, B0L3P6, I6S6F0, Q540I5, Q540I6, Q6RJV9, Q6RJW0, Q6RJW1, Q7Z2I1
      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
    9. XM_006724265.4XP_006724328.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

      See identical proteins and their annotated locations for XP_006724328.1

      UniProtKB/Swiss-Prot
      B2R7C4, Q9NPC4, Q9P1X5
      UniProtKB/TrEMBL
      A0A0S2Z5J1, A9XEA7, B0L3P6, I6S6F0, Q540I5, Q540I6, Q6RJV9, Q6RJW0, Q6RJW1, Q7Z2I1
      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      43172985..43202215 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325716.1XP_054181691.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

      UniProtKB/TrEMBL
      Q5D079, Q7Z7C6
    2. XM_054325710.1XP_054181685.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

      UniProtKB/TrEMBL
      Q5D079, Q7Z7C6
    3. XM_054325717.1XP_054181692.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

      UniProtKB/TrEMBL
      Q5D079, Q7Z7C6
    4. XM_054325714.1XP_054181689.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

      UniProtKB/TrEMBL
      Q5D079, Q7Z7C6
    5. XM_054325712.1XP_054181687.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

      UniProtKB/TrEMBL
      Q5D079, Q7Z7C6
    6. XM_054325711.1XP_054181686.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

      UniProtKB/TrEMBL
      Q5D079, Q7Z7C6
    7. XM_054325713.1XP_054181688.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

      UniProtKB/TrEMBL
      Q5D079, Q7Z7C6
    8. XM_054325709.1XP_054181684.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

      UniProtKB/TrEMBL
      Q5D079, Q7Z7C6
    9. XM_054325715.1XP_054181690.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

      UniProtKB/TrEMBL
      Q5D079, Q7Z7C6
    10. XM_054325708.1XP_054181683.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

      UniProtKB/TrEMBL
      Q5D079, Q7Z7C6