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

Homo sapiens

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

Gene ID: 53947 | Gene type: protein coding

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	Reference	Source
enables galactosyltransferase activity	IDA IDA: Inferred from direct assay	10747952	GOA

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

Cellular Component GO Annotation	Evidence	Reference	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

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-E70047	alpha-1,4-Galactosyltransferase (LgtC)		/	Unkown
HY-149125	Globotriaosylceramide (porcine RBC)	Inhibitor	/	Unkown
HY-RS00013	A4GALT Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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