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INPP5D inositol polyphosphate-5-phosphatase D [ Homo sapiens (human) ]

Gene ID: 3635, updated on 21-Dec-2019

Summary

Official Symbol
INPP5Dprovided by HGNC
Official Full Name
inositol polyphosphate-5-phosphatase Dprovided by HGNC
Primary source
HGNC:HGNC:6079
See related
Ensembl:ENSG00000168918 MIM:601582
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
SHIP; SHIP1; SHIP-1; hp51CN; SIP-145; p150Ship
Summary
This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted to hematopoietic cells where its movement from the cytosol to the plasma membrane is mediated by tyrosine phosphorylation. At the plasma membrane, the protein hydrolyzes the 5' phosphate from phosphatidylinositol (3,4,5)-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, thereby affecting multiple signaling pathways. The protein is also partly localized to the nucleus, where it may be involved in nuclear inositol phosphate signaling processes. Overall, the protein functions as a negative regulator of myeloid cell proliferation and survival. Mutations in this gene are associated with defects and cancers of the immune system. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Expression
Broad expression in lymph node (RPKM 33.2), spleen (RPKM 31.1) and 21 other tissues See more
Orthologs

Genomic context

See INPP5D in Genome Data Viewer
Location:
2q37.1
Exon count:
27
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (233060342..233207903)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (233925036..233995881) , (234054795..234116549)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene neuronal guanine nucleotide exchange factor Neighboring gene uncharacterized LOC101928881 Neighboring gene neuraminidase 2 Neighboring gene RNA, 7SL, cytoplasmic 32, pseudogene Neighboring gene autophagy related 16 like 1 Neighboring gene small Cajal body-specific RNA 5 Neighboring gene small Cajal body-specific RNA 6

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?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
NHGRI GWA Catalog
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
NHGRI GWA Catalog
Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of inositol polyphosphate-5-phosphatase, 145kDa (INPP5D) in human B cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC104855, MGC142140, MGC142142

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
inositol-1,4,5-trisphosphate 5-phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
inositol-polyphosphate 5-phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity TAS
Traceable Author Statement
more info
 
phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
T cell receptor signaling pathway TAS
Traceable Author Statement
more info
 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
determination of adult lifespan IEA
Inferred from Electronic Annotation
more info
 
immunoglobulin mediated immune response IEA
Inferred from Electronic Annotation
more info
 
inositol phosphate metabolic process TAS
Traceable Author Statement
more info
 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
leukocyte migration TAS
Traceable Author Statement
more info
 
negative regulation of B cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of bone resorption IEA
Inferred from Electronic Annotation
more info
 
negative regulation of immune response IEA
Inferred from Electronic Annotation
more info
 
negative regulation of interleukin-6 biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of monocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neutrophil differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of osteoclast differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
phosphate-containing compound metabolic process TAS
Traceable Author Statement
more info
PubMed 
phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
 
phosphatidylinositol dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of B cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of erythrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1
Names
SH2 domain-containing inositol 5'-phosphatase 1
inositol polyphosphate-5-phosphatase, 145kD
inositol polyphosphate-5-phosphatase, 145kDa
phosphatidylinositol 4,5-bisphosphate 5-phosphatase
signaling inositol polyphosphate 5 phosphatase SIP-145
signaling inositol polyphosphate phosphatase SHIP II
NP_001017915.1
NP_005532.2
XP_016859493.1

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_033988.1 RefSeqGene

    Range
    5376..152937
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001017915.3NP_001017915.1  phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 isoform a

    See identical proteins and their annotated locations for NP_001017915.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AW503130, BC099920, U53470
    Consensus CDS
    CCDS74672.1
    UniProtKB/Swiss-Prot
    Q92835
    Related
    ENSP00000405338.2, ENST00000445964.6
    Conserved Domains (2) summary
    cd09100
    Location:404710
    INPP5c_SHIP1-INPP5D; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of SH2 domain containing inositol polyphosphate 5-phosphatase-1 and related proteins
    cd10343
    Location:1102
    SH2_SHIP; Src homology 2 (SH2) domain found in SH2-containing inositol-5'-phosphatase (SHIP) and SLAM-associated protein (SAP)
  2. NM_005541.5NP_005532.2  phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 isoform b

    See identical proteins and their annotated locations for NP_005532.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is 1 aa shorter than isoform a.
    Source sequence(s)
    AW503130, BC099920, X98429
    Consensus CDS
    CCDS77543.1
    UniProtKB/Swiss-Prot
    Q92835
    Related
    ENSP00000352575.7, ENST00000359570.9
    Conserved Domains (2) summary
    cd09100
    Location:403709
    INPP5c_SHIP1-INPP5D; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of SH2 domain containing inositol polyphosphate 5-phosphatase-1 and related proteins
    cd10343
    Location:1102
    SH2_SHIP; Src homology 2 (SH2) domain found in SH2-containing inositol-5'-phosphatase (SHIP) and SLAM-associated protein (SAP)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    233060342..233207903
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004004.1XP_016859493.1  phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 isoform X1

    Related
    ENSP00000397421.1, ENST00000415617.5

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_011332690.1 Reference GRCh38.p13 PATCHES

    Range
    5680..153241
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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