Inpp5e
Gene Detail

Symbol Name ID

Inpp5e inositol polyphosphate-5-phosphatase E MGI:1927753

Synonyms

1200002L24Rik, 72kDa, mKIAA0123

Feature Type

protein coding gene

Genetic Map

Chromosome 2

18.88 cM, cytoband A3
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr2:26396249-26409203 bp, - strand From VEGA annotation of GRCm38   12955 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:56863  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Inpp5e

Human homologs

Human Homolog		INPP5E, inositol polyphosphate-5-phosphatase, 72 kDa
NCBI Gene ID		56623
neXtProt AC		NX_Q9NRR6
Human Synonyms		CORS1, CPD4, JBTS1, MORMS, PPI5PIV
Human Chr (Location)		9q34.3; chr9:139323067-139334256 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human INPP5E

Alleles and phenotypes

All alleles(6) : Targeted(4) Gene trapped(1) Chemically induced(1)
 

Mice homozygous for a null mutation display signs of ciliopathies including prenatal and perinatal lethality, polycystic kidneys, arrest of eye development, abnormalities in primary cilia, cerebral developmental defects, and skeletal defects.

 

Gene Ontology (GO) classifications

All GO classifications: (19 annotations)

Process	dephosphorylation, inositol phosphate dephosphorylation, ...
Component	cell projection, cilium, ...
Function	hydrolase activity, inositol-polyphosphate 5-phosphatase activity, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (101)    Tissues (99)    Images (10)
Theiler Stages: 17, 21, 22, 26, 28

Assay Type	Results
RNA in situ	97
Western blot	4

cDNA source data(48)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(49) cDNA(48) Other(1)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000012777 (Evidence)
Ensembl Gene Model	ENSMUSG00000026925 (Evidence)
Entrez Gene	64436 (Evidence)
UniGene	330070
NIA Mouse Gene Index	U022423
EC	3.1.3.36
Consensus CDS Project	CCDS15805.1
International Mouse Knockout Project Status	Inpp5e

Sequences

Length	Strain/Species
genomic	OTTMUSG00000012777	VEGA Gene Model | MGI Sequence Detail	12955	C57BL/6J
transcript	OTTMUST00000030592	VEGA | MGI Sequence Detail	4147	Not Applicable
polypeptide	OTTMUSP00000013735	VEGA | MGI Sequence Detail	647	Not Applicable

All sequences(48) RefSeq(2) UniProt(5)

Polymorphisms

SNPs(58 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR005135	Endonuclease/exonuclease/phosphatase
InterPro	IPR000300	Inositol polyphosphate-related phosphatase
Protein Ontology	PR:000009049	72 kDa inositol polyphosphate 5-phosphatase

References

(Earliest) J:63827 Kong AM, et al., Cloning and characterization of a 72-kDa inositol-polyphosphate 5-phosphatase localized to the Golgi network. J Biol Chem. 2000 Aug 4;275(31):24052-64
(Latest) J:186861 Sun M, et al., Multiplex Chromosomal Exome Sequencing Accelerates Identification of ENU-Induced Mutations in the Mouse. G3 (Bethesda). 2012 Jan;2(1):143-50
All references(33)

Other accession IDs

MGI:1914115