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ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 [ Homo sapiens (human) ]

Gene ID: 9583, updated on 24-Nov-2020

Summary

Official Symbol
ENTPD4provided by HGNC
Official Full Name
ectonucleoside triphosphate diphosphohydrolase 4provided by HGNC
Primary source
HGNC:HGNC:14573
See related
Ensembl:ENSG00000197217 MIM:607577
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LAP70; LALP70; LYSAL1; UDPase; NTPDase-4
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]
Expression
Ubiquitous expression in lymph node (RPKM 16.0), appendix (RPKM 14.8) and 25 other tissues See more
Orthologs

Genomic context

See ENTPD4 in Genome Data Viewer
Location:
8p21.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (23429162..23457647, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (23284687..23315244, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene R3H domain and coiled-coil containing 1 Neighboring gene lysyl oxidase like 2 Neighboring gene uncharacterized LOC100507156 Neighboring gene DnaJ heat shock protein family (Hsp40) member C5 pseudogene Neighboring gene uncharacterized LOC105379327

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: LOXL2

Homology

Clone Names

  • KIAA0392

Gene Ontology Provided by GOA

Function Evidence Code Pubs
guanosine-diphosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoside-diphosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
uridine-diphosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
uridine-diphosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
UDP catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
UDP catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
nucleobase-containing small molecule catabolic process TAS
Traceable Author Statement
more info
 
nucleoside diphosphate catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
integral component of Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of autophagosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ectonucleoside triphosphate diphosphohydrolase 4
Names
golgi luminal UDPase
guanosine-diphosphatase like protein
lysosomal apyrase-like 1
lysosomal apyrase-like protein of 70 kDa
uridine-diphosphatase
NP_001122402.1
NP_004892.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_030021.1 RefSeqGene

    Range
    5085..33570
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001128930.3NP_001122402.1  ectonucleoside triphosphate diphosphohydrolase 4 isoform b

    See identical proteins and their annotated locations for NP_001122402.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (b, also known as LALP70v) is shorter than isoform a.
    Source sequence(s)
    AC104561, AF016032, DB091432, DC341200
    Consensus CDS
    CCDS47827.1
    UniProtKB/Swiss-Prot
    Q9Y227
    Related
    ENSP00000408573.2, ENST00000417069.6
    Conserved Domains (1) summary
    cl17037
    Location:82532
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
  2. NM_004901.5NP_004892.1  ectonucleoside triphosphate diphosphohydrolase 4 isoform a

    See identical proteins and their annotated locations for NP_004892.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC104561, AJ131358, CN313713, CN313716, DC341200
    Consensus CDS
    CCDS6041.1
    UniProtKB/Swiss-Prot
    Q9Y227
    Related
    ENSP00000351520.4, ENST00000358689.9
    Conserved Domains (1) summary
    cl17037
    Location:82540
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    23429162..23457647 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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