INPP4A - inositol polyphosphate-4-phosphatase type I A Gene

Also Known as INPP4; TVAS1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3631

About INPP4A

Cytogenetic location: 2q11.2 Genomic coordinates (GRCh38): 2:98,444,587-98,594,392 (from NCBI)

This gene has 10 transcripts (splice variants), 275 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 6.3), spleen (RPKM 4.2) and 24 other tissues.

Summary

This gene encodes an Mg++ independent enzyme that hydrolyzes the 4-position phosphate from the inositol ring of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate, and inositol 3,4-bisphosphate. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2008]

INPP4A Products (10)

mRNA Protein Name
NM_001134224.2 NP_001127696.1 inositol polyphosphate-4-phosphatase type I A isoform d
NM_001134225.2 NP_001127697.1 inositol polyphosphate-4-phosphatase type I A isoform c
NM_001351424.1 NP_001338353.1 inositol polyphosphate-4-phosphatase type I A isoform e
NM_001351425.2 NP_001338354.1 inositol polyphosphate-4-phosphatase type I A isoform f
NM_001351426.2 NP_001338355.1 inositol polyphosphate-4-phosphatase type I A isoform f
NM_001351427.2 NP_001338356.1 inositol polyphosphate-4-phosphatase type I A isoform a
NM_001351428.2 NP_001338357.1 inositol polyphosphate-4-phosphatase type I A isoform g
NM_001351429.2 NP_001338358.1 inositol polyphosphate-4-phosphatase type I A isoform h
NM_001566.2 NP_001557.1 inositol polyphosphate-4-phosphatase type I A isoform b
NM_004027.3 NP_004018.1 inositol polyphosphate-4-phosphatase type I A isoform a
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25869668 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
30071275 GOA
located in nucleus IDA
IDA: Inferred from direct assay
30071275 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
Protein Preferred Names Protein Names

inositol polyphosphate-4-phosphatase type I A

  • inositol polyphosphate-4-phosphatase, type I, 107kD

INPP4A Antibodies

Cat. No. Product Name Application Reactivity
HY-P86913 INPP4A Antibody (YA6606) WB, IHC-P, ICC/IF Human, Mouse, Rat

Related Diseases

Diseases Alias
Dyskeratosis Congenita, Autosomal Dominant 1
  • DKCA1

  • Dyskeratosis Congenita, Scoggins Type

  • Autosomal Dominant Dyskeratosis Congenita 1

  • Dyskeratosis Congenita, Autosomal Dominant, Type 1

  • Dyskeratosis Congenita, Autosomal Dominant

Pectus Excavatum
  • Funnel Chest

  • Congenital Pectus Excavatum

Dyskeratosis Congenita
  • Dyskeratosis Congenita Autosomal Dominant

  • Dc

  • Dkc

  • Zinsser-Engman-Cole Syndrome

  • Dyskeratosis Congenita, Autosomal Dominant

  • Autosomal Dominant Dyskeratosis Congenita

  • Dkca

  • Dyskeratosis Congenita Scoggins Type

  • Zinsser-Cole-Engman Syndrome

  • X-Linked Dyskeratosis Congenita

  • Hoyeraal-Hreidarsson Syndrome

Hypotonia
Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

Lowe Oculocerebrorenal Syndrome
  • Lowe Syndrome

  • Oculocerebrorenal Syndrome

  • OCRL

  • Oculocerebrorenal Syndrome Of Lowe

  • Ocrl1

  • Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency

  • Lowe Disease

  • Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency

  • Cerebrooculorenal Syndrome

  • Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency

  • Lowe Oculo-Cerebro-Renal Dystrophy

  • Lowe Oculo-Cerebro-Renal Syndrome

  • Lowe Oculocerebrorenal Dystrophy

  • Low

  • Chromosome 11p Deletion Syndrome

  • Oculocerebrorenal Dystrophy

  • Cerebro-Oculorenal Dystrophy

  • Ocrl1 - [Oculocerebrorenal Syndrome]

  • Lowe-Terrey-Maclachlan Syndrome

  • Renal-Oculocerebrodystrophy

Joubert Syndrome 1
  • Joubert Syndrome

  • Jbts

  • Cerebellooculorenal Syndrome 1

  • JBTS1

  • Joubert-Boltshauser Syndrome

  • Cerebelloparenchymal Disorder Iv

  • Cpd4

  • Cors1

  • Joubert Syndrome And Related Disorders

  • Jsrd

  • Familial Aplasia Of The Vermis

  • Joubert Syndrome Related Disorders

  • Js

  • Cerebellar Vermis Agenesis

  • Cerebelloparenchymal Disorder 4

  • Agenesis Of Cerebellar Vermis

  • Cerebello-Oculo-Renal Syndrome

  • Cors

  • Joubert-Bolthauser Syndrome

  • Cpd Iv

  • Classic Joubert Syndrome

  • Joubert Syndrome Type A

  • Pure Joubert Syndrome

  • Cerebello-Oculo-Renal Syndrome 1

  • Joubert Syndrome-1

  • Joubert Syndrome, Type 1

  • Joubert'S Syndrome

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 INPP4A VGNC VGNC:30209
Mus musculus INPP4A MGD MGI:1931123
Canis familiaris INPP4A VGNC VGNC:42028
Rattus norvegicus INPP4A RGD RGD:68386
Felis catus INPP4A VGNC VGNC:67805
Macaca mulatta INPP4A VGNC VGNC:73747
Others INPP4A NCBI