GALNT1

Chr 18

polypeptide N-acetylgalactosaminyltransferase 1

Also known as: GALNAC-T1

NCBI Gene: 2589 ENSG00000141429 UniProt: Q10472 OMIM: 602273

This enzyme catalyzes the initial step in mucin-type O-linked glycosylation by transferring N-acetyl-D-galactosamine to serine and threonine residues on target proteins in the Golgi apparatus. Mutations cause autosomal recessive intellectual disability with distinctive facial features and behavioral abnormalities. The gene is moderately constrained against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.59

LOEUF

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Mechanism