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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables CDP phosphatase activity IDA
IDA: Inferred from direct assay
10858452 GOA
enables CTPase activity IDA
IDA: Inferred from direct assay
10858452 GOA
enables GDP phosphatase activity IDA
IDA: Inferred from direct assay
10858452 GOA
enables UDP phosphatase activity IDA
IDA: Inferred from direct assay
9556635 GOA
enables nucleoside diphosphate phosphatase activity IDA
IDA: Inferred from direct assay
10858452 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
33961781 GOA
enables ribonucleoside triphosphate phosphatase activity IDA
IDA: Inferred from direct assay
10858452 GOA
Biological Process GO Annotation Evidence Reference Source
involved in CTP metabolic process IDA
IDA: Inferred from direct assay
10858452 GOA
involved in GDP catabolic process IDA
IDA: Inferred from direct assay
10858452 GOA
involved in UDP catabolic process IDA
IDA: Inferred from direct assay
9556635 GOA
involved in nucleobase-containing small molecule catabolic process IDA
IDA: Inferred from direct assay
10858452 GOA
Cellular Component GO Annotation Evidence Reference Source
located in Golgi membrane IDA
IDA: Inferred from direct assay
9556635 GOA
located in autophagosome membrane IDA
IDA: Inferred from direct assay
10393803 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

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

ENTPD4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
ENTPD4 Q9Y227 PCYOX1 Homo sapiens Q9UHG3 33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

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