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Gene

A4GALT

alpha 1,4-galactosyltransferase (P1PK blood group)

Summary

Cytogenetic location
22q13.2
Coordinates
Chromosome 22: 42,692,121–42,720,870 (GRCh38)
Exons
3 exons across 28.8 kb
Protein
353 amino acids
Also known as
A14GALT, Gb3S, P(k)
Previous symbols
P1
MANE Select transcript
ENST00000642412.2NM_017436.7
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Congenital Disorders of Glycosylation

      • Congenital Disorders of Glycosylation (CDG)

        One of 98 genes linked to it

        A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.

        • ClinGen rates the link definitive
        • 1 GenCC submitter rates it definitive or strong

    How A4GALT is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Stretches short reads find hard
    Chromosome 22, with a bracket where A4GALT sits. A4GALT and 17 genes near it on chromosome 22, from 42,206,496 to 43,206,495.Chromosome 2222q13.2p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3342.4 Mb42.6 Mb42.8 Mb43 Mb43.2 MbTCF20: 42,160,013–42,343,616, reverse strandTCF20NFAM1: 42,380,407–42,432,425, reverse strandNFAM1RRP7A: 42,507,982–42,519,853, reverse strandRRP7ASERHL2: 42,553,617–42,574,387, forward strandSERHL2POLDIP3: 42,582,750–42,614,962, reverse strand: 42,583,836–42,627,688, reverse strandRNU12: 42,615,244–42,615,393, forward strandRNU12CYB5R3: 42,615,730–42,720,870, reverse strandCYB5R3ATP5MGL: 42,639,803–42,640,601, reverse strandATP5MGLA4GALT: 42,692,121–42,720,870, reverse strandA4GALTARFGAP3: 42,796,502–42,858,106, reverse strandARFGAP3PACSIN2: 42,835,412–43,015,185, reverse strandPACSIN2TTLL1: 43,039,447–43,089,430, reverse strandTTLL1BIK: 43,110,742–43,129,712, forward strandBIKMCAT: 43,130,627–43,143,401, reverse strandMCATTSPO: 43,151,077–43,163,246, forward strandTSPOTTLL12: 43,164,366–43,187,160, reverse strandTTLL12SCUBE1: 43,197,280–43,343,379, reverse strandSCUBE1Diagram of A4GALT: 3 exons on the reverse strand of chromosome 22Exon 3: 42,692,121–42,693,997, 1,877 basesExon 2: 42,695,491–42,695,631, 141 basesExon 1: 42,720,797–42,720,870, 74 bases3215′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 2.1 kb of the gene's 28.8 kb; 1,062 of those bases code for the protein.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). A4GALT gene: alpha 1,4-galactosyltransferase (P1PK blood group). Retrieved 16 October 2026, from https://dantelabs.com/genes/a4galt

    Vancouver

    Dante Labs. A4GALT gene: alpha 1,4-galactosyltransferase (P1PK blood group) [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/a4galt

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