A4GALT - alpha 1,4-galactosyltransferase (P blood group) Gene

Also Known as P1; PK; Gb3S; P(k); P1PK; A14GALT; A4GALT1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 53947

About A4GALT

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:42,692,121-42,721,301 (from NCBI)

This gene has 7 transcripts (splice variants), 118 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in kidney (RPKM 6.5), fat (RPKM 5.5) and 22 other tissues.

Summary

The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. This protein, a type II membrane protein found in the Golgi, is also required for the synthesis of the Bacterial verotoxins receptor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

A4GALT Products (2)

mRNA	Protein	Name
NM_001318038.3	NP_001304967.1	lactosylceramide 4-alpha-galactosyltransferase
NM_017436.7	NP_059132.1	lactosylceramide 4-alpha-galactosyltransferase

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables galactosyltransferase activity	IDA IDA: Inferred from direct assay	10747952	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within plasma membrane organization	IDA IDA: Inferred from direct assay	10747952	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in membrane	IDA IDA: Inferred from direct assay	10748143	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

A4GALT Protein Structure

Gly_transf_sug

Gb3_synth

0
100
200
300
353 a.a.

Protein Preferred Names	Protein Names
lactosylceramide 4-alpha-galactosyltransferase	CD77 synthase

Related Diseases

Diseases	Alias
Blood Group, P1pk System	Blood Group, P1pk System, P Phenotype Blood Group, P1pk System, P Phenotype Nor Polyagglutination Syndrome Blood Group, P1pk System, P(2) Phenotype P1pk Blood Group System, P(2) Phenotype Blood Group System, P1pk
Caffey Disease	Infantile Cortical Hyperostosis CAFYD Cortical Congenital Hyperostosis Caffey-Silverman Syndrome De Toni-Caffey Disease Hyperostosis Cortical Infantile Hyperostosis, Cortical, Congenital
Fabry Disease	Alpha-Galactosidase A Deficiency Anderson-Fabry Disease Angiokeratoma Corporis Diffusum Ceramide Trihexosidase Deficiency Fabry Disease, Cardiac Variant Fabry'S Disease Hereditary Dystopic Lipidosis Gla Deficiency FD Alpha Galactosidase Deficiency Deficiency Of Melibiase Angiokeratoma, Diffuse Angiokeratoma Diffuse Diffuse Angiokeratoma
Liver Failure, Infantile, Transient	Acute Infantile Liver Failure Due To Synthesis Defect Of Mtdna-Encoded Proteins Transient Infantile Liver Failure LFIT Acute Infantile Liver Failure Acute Infantile Liver Failure Due To Synthesis Defect Of Mitochondrial Dna-Encoded Proteins Liver Failure, Transient Infantile Acute Infantile Liver Failure Due To Mtdna-Encoded Proteins Synthesis Defect Liver Failure, Acute Infantile Failure, Liver, Transient, Infantile
Blood Group Incompatibility
Angiokeratoma	Angiokeratoma Of Skin Cutaneous Angiokeratoma Skin Angiokeratoma
Skin Hemangioma	Angioma Of The Skin Angiomatous Naevus Of Skin Hemangioma Of Skin
Sphingolipidosis	Sphingolipidoses

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

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-E70047	alpha-1,4-Galactosyltransferase (LgtC)		/	Unkown
HY-156208	C2 Adamantanyl galactosylceramide (d18:1/2:0)		/	Unkown
HY-RS00013	A4GALT Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-149125	Globotriaosylceramide (porcine RBC)	Inhibitor	/	Unkown
HY-RS18003	A4galt Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24475	A4galt Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	A4GALT	MGD	MGI:3512453
Canis familiaris	A4GALT	VGNC	VGNC:108199
Rattus norvegicus	A4GALT	RGD	RGD:621583
Macaca mulatta	A4GALT	VGNC	VGNC:84538
Felis catus	A4GALT	VGNC	VGNC:83484
Bos taurus	A4GALT	VGNC	VGNC:49133