GALNT9 - polypeptide N-acetylgalactosaminyltransferase 9 Gene

Homo sapiens

Also known as GALNACT9; GALNAC-T9

Gene ID: 50614 | Gene type: protein coding

About GALNT9

Cytogenetic location: 12q24.33 Genomic coordinates (GRCh38): 12:132,196,372-132,329,589 (from NCBI)

This gene has 10 transcripts (splice variants), 1 gene allele, 253 orthologues and 19 paralogues. Biased expression in brain (RPKM 5.0), thyroid (RPKM 1.4) and 1 other tissue.

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. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GALNT9 Products(2)

mRNA	Protein	Name
NM_001122636.2	NP_001116108.1	polypeptide N-acetylgalactosaminyltransferase 9 isoform A
NM_021808.3	NP_068580.2	polypeptide N-acetylgalactosaminyltransferase 9 isoform B

GALNT9 Protein Structure

Ricin_B_lectin

0
100
200
237 a.a.

Protein Preferred Names

Protein Names

polypeptide N-acetylgalactosaminyltransferase 9

GalNAc transferase 9

Related Diseases

Diseases

Alias

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05261	GALNT9 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	GALNT9	VGNC	VGNC:41097
Rattus norvegicus	GALNT9	RGD	RGD:1311523
Macaca mulatta	GALNT9	VGNC	VGNC:84885
Felis catus	GALNT9	VGNC	VGNC:62454
Bos taurus	GALNT9	VGNC	VGNC:29236
Mus musculus	GALNT9	MGD	MGI:2677965

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