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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. In vitro, the encoded protein can complement other GalNAc-Ts in the complete O-glycosylation of the mucin-1 tandem repeat and can O-glycosylate the P-selectin glycoprotein ligand-1 molecule. The coding region of this gene is contained within a single exon. Fusion transcripts, which combine part of this gene with the 5' exons of the neighboring POC1B (POC1 centriolar protein homolog B) gene, also exist. [provided by RefSeq, Dec 2010]
GALNT4 (Polypeptide N-Acetylgalactosaminyltransferase 4) is a Protein Coding gene. Diseases associated with GALNT4 include Nephrotic Syndrome, Type 3. Among its related pathways are Mucin type O-glycan biosynthesis and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is POC1B-GALNT4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
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GO:0004653 | polypeptide N-acetylgalactosaminyltransferase activity | IEA,IDA | 9804815 |
GO:0016740 | transferase activity | IEA | -- |
GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
GO:0030145 | manganese ion binding | IDA | 29208955 |
GO:0030246 | carbohydrate binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005794 | colocalizes_with Golgi apparatus | IDA | 12506059 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0048471 | perinuclear region of cytoplasm | IDA | 12506059 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Mucin type O-glycan biosynthesis | ||
2 | Metabolism of proteins | ||
3 | O-linked glycosylation | ||
4 | Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006486 | protein glycosylation | IEA | -- |
GO:0016266 | O-glycan processing | TAS | -- |
GO:0018242 | protein O-linked glycosylation via serine | IDA | 9804815 |
GO:0018243 | protein O-linked glycosylation via threonine | IDA | 9804815 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
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Lactosamine |
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13000-25-4 |
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UDP-N-acetyl-alpha-D-galactosamine |
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Uridine diphosphate-N-acetylgalactosamine |
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7277-98-7 |
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This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
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Chimpanzee (Pan troglodytes) |
Mammalia | GALNT4 30 |
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Cow (Bos Taurus) |
Mammalia | GALNT4 30 |
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Rat (Rattus norvegicus) |
Mammalia | Galnt4 30 |
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Mouse (Mus musculus) |
Mammalia | Galnt4 30 17 31 |
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OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
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OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
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OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
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OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | galnt4 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | poc1bl 30 31 |
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OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | GalNAc-T1 32 |
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CG2103 32 |
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CG7297 32 |
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CG7579 32 |
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CG7304 32 |
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Worm (Caenorhabditis elegans) |
Secernentea | Y39E4B.12a 32 |
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Y39E4B.12b 32 |
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Y39E4B.12c 32 |
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Y47D3A.23 32 |
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Y45F10D.3 32 |
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Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4670 31 |
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OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
717686 | Benign: not provided | 89,523,764(-) | A/T | MISSENSE_VARIANT,INTRON_VARIANT | |
773664 | Benign: not provided | 89,523,004(-) | G/T | MISSENSE_VARIANT,INTRON_VARIANT | |
rs863223348 | Likely Pathogenic: Childhood-Onset Schizophrenia | 89,523,356(-) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
rs17853610 | - | p.Asp51Gly | |||
rs2230281 | - | p.Ile270Thr |
Disorder | Aliases | PubMed IDs |
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nephrotic syndrome, type 3 |
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