INPP5A inositol polyphosphate-5-phosphatase A [Homo sapiens (human)] - Gene

Summary

Official Symbol: INPP5Aprovided by HGNC
Official Full Name: inositol polyphosphate-5-phosphatase Aprovided by HGNC
Primary source: HGNC:HGNC:6076
See related: Ensembl:ENSG00000068383 MIM:600106; AllianceGenome:HGNC:6076
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: 5PTASE
Summary: The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in heart (RPKM 7.6), testis (RPKM 4.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q26.3

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (132537787..132783480)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (133486789..133732662)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (134351291..134596984)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The ataxic phenotype and characteristics neurodegeneration of the Inpp5a Gt(OST50073)Lex mouse indicate a crucial role for Inpp5a in purkinje cells survival.
Title: Deletion of Inpp5a causes ataxia and cerebellar degeneration in mice.
NPP5Amay play a role in development and progression of cutaneous squamous cell carcinoma tumors
Title: Loss of inositol polyphosphate 5-phosphatase is an early event in development of cutaneous squamous cell carcinoma.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH104267 (e-PCR)
- UniSTS:98592

84 (e-PCR), detects polymorphism
- UniSTS:55362

NoName (e-PCR)
- UniSTS:483911

RH91871 (e-PCR)
- UniSTS:88170

SHGC-146745 (e-PCR)
- UniSTS:172671

SHGC-148086 (e-PCR)
- UniSTS:172929

D10S212 (e-PCR), detects polymorphism
- UniSTS:42377

D10S1376E (e-PCR)
- UniSTS:24470

D10S2346 (e-PCR)
- UniSTS:40144

WI-19193 (e-PCR)
- UniSTS:76776

D10S212 (e-PCR), detects polymorphism
- UniSTS:59644

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables PH domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity	IEA Inferred from Electronic Annotation more info
enables inositol-1,4,5-trisphosphate 5-phosphatase activity	TAS Traceable Author Statement more info
enables inositol-polyphosphate 5-phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables inositol-polyphosphate 5-phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables inositol-polyphosphate 5-phosphatase activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in inositol phosphate metabolic process	TAS Traceable Author Statement more info
involved_in negative regulation of phospholipase C-activating G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in phosphatidylinositol dephosphorylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: inositol polyphosphate-5-phosphatase A

Names: 43 kDa inositol polyphosphate 5-phophatase; 43 kDa inositol polyphosphate 5-phosphatase; CTCL tumor antigen HD-CL-02; InsP3 5-phosphatase; inositol polyphosphate-5-phosphatase, 40kD; inositol polyphosphate-5-phosphatase, 40kDa; inositol trisphosphate-5-phosphatase, 40kD; type I inositol 1,4,5-trisphosphate 5-phosphatase; type I inositol-1,4,5-trisphosphate 5-phophatase

NP_001307971.1

EC 3.1.3.56

NP_005530.3

EC 3.1.3.56

XP_016871693.1

EC 3.1.3.56

XP_016871694.1

EC 3.1.3.56

XP_054221771.1

EC 3.1.3.56

XP_054221772.1

EC 3.1.3.56

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001321042.2 → NP_001307971.1 inositol polyphosphate-5-phosphatase A isoform b

Status: REVIEWED

Source sequence(s)

AL392043, BC096280, BI964266, Z31695

UniProtKB/TrEMBL

Q9C055

Conserved Domains (1) summary

cl00490
Location:39 → 330

EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
NM_005539.5 → NP_005530.3 inositol polyphosphate-5-phosphatase A isoform a

See identical proteins and their annotated locations for NP_005530.3

Status: REVIEWED

Source sequence(s)

AL392043, BC096280, BI964266, HY025461, Z31695

Consensus CDS

CCDS7669.2

UniProtKB/Swiss-Prot

D3DXI3, Q14640, Q14642, Q5JSF1

UniProtKB/TrEMBL

Q4VAR4

Related

ENSP00000357583.3, ENST00000368594.8

Conserved Domains (1) summary

cd09092
Location:10 → 394

INPP5A; Type I inositol polyphosphate 5-phosphatase I

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

132537787..132783480

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017016205.2 → XP_016871694.1 inositol polyphosphate-5-phosphatase A isoform X2

Conserved Domains (1) summary

cl00490
Location:10 → 301

EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
XM_017016204.2 → XP_016871693.1 inositol polyphosphate-5-phosphatase A isoform X1

UniProtKB/TrEMBL

Q9C055

Conserved Domains (1) summary

cl00490
Location:45 → 336

EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

RNA

XR_001747104.2 RNA Sequence
XR_945735.2 RNA Sequence
XR_007061963.1 RNA Sequence
XR_007061962.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

133486789..133732662

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054365797.1 → XP_054221772.1 inositol polyphosphate-5-phosphatase A isoform X2
XM_054365796.1 → XP_054221771.1 inositol polyphosphate-5-phosphatase A isoform X1