1. Gene
  2. ENTPD4 - ectonucleoside triphosphate diphosphohydrolase 4 Gene

ENTPD4 - ectonucleoside triphosphate diphosphohydrolase 4 Gene

Homo sapiens

Also known as LAP70; LALP70; LYSAL1; UDPase; NTPDase-4

Gene ID: 9583 | Gene type: protein coding

About ENTPD4

Cytogenetic location: 8p21.3 Genomic coordinates (GRCh38): 8:23,429,162-23,457,647 (from NCBI)

This gene has 11 transcripts (splice variants), 212 orthologues and 7 paralogues. Ubiquitous expression in lymph node (RPKM 16.0), appendix (RPKM 14.8) and 25 other tissues.

Summary

This gene encodes a member of the apyrase protein family. Apyrases are enzymes that catalyze the hydrolysis of nucleotide diphosphates and triphosphates in a calcium or magnesium-dependent manner. The encoded protein is an endo-apyrase and may play a role in salvaging nucleotides from lysosomes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and these isoforms may differ in divalent cation dependence and substrate specificity. [provided by RefSeq, Sep 2011]

ENTPD4 Products(2)

mRNA Protein Name
NM_001128930.3 NP_001122402.1 ectonucleoside triphosphate diphosphohydrolase 4 isoform b
NM_004901.5 NP_004892.1 ectonucleoside triphosphate diphosphohydrolase 4 isoform a

ENTPD4 Protein Structure

GDA1_CD39

GDA1_CD39: GDA1/CD39 (nucleoside phosphatase) family (83 - 543)

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  • 616 a.a.
Protein Preferred Names Protein Names

ectonucleoside triphosphate diphosphohydrolase 4

Golgi UDPase

Related Diseases

Diseases Alias
Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive

Autosomal Recessive Mental Retardation

Autosomal Recessive Non-Syndromic Mental Retardation

Autosomal Recessive Non-Syndromic Intellectual Disability

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

Orthologs Information

Species Symbol Source ID
Bos taurus ENTPD4 VGNC VGNC:56947
Rattus norvegicus ENTPD4 RGD RGD:1309511
Canis familiaris ENTPD4 VGNC VGNC:40383
Felis catus ENTPD4 VGNC VGNC:61881