Gene: GALNT4
Alternate names for this Gene: GALNAC-T4|GALNACT4
Gene Summary: 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.
Gene is located in Chromosome: 12
Location in Chromosome : 12q21.33
Description of this Gene: polypeptide N-acetylgalactosaminyltransferase 4
Type of Gene: protein-coding
Gene: POC1B-GALNT4
Alternate names for this Gene: GALNT4|GalNAc-T4
Gene Summary: This locus represents naturally occurring transcripts that splice the 5' exons of the POC1B (POC1 centriolar protein homolog B) gene on chromosome 12 to the GALNT4 (UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4) gene, which is located within a POC1B intron. Alternative splicing results in two transcript variants, one of which encodes a fusion isoform that shares sequence identity with the products of each individual gene.
Gene is located in Chromosome: 12
Location in Chromosome : 12q21.33
Description of this Gene: POC1B-GALNT4 readthrough
Type of Gene: protein-coding
Gene: POC1B
Alternate names for this Gene: CORD20|PIX1|TUWD12|WDR51B
Gene Summary: POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 12
Location in Chromosome : 12q21.33
Description of this Gene: POC1 centriolar protein B
Type of Gene: protein-coding