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INPP4A inositol polyphosphate-4-phosphatase type I A [ Homo sapiens (human) ]

Gene ID: 3631, updated on 24-Nov-2020

Summary

Official Symbol
INPP4Aprovided by HGNC
Official Full Name
inositol polyphosphate-4-phosphatase type I Aprovided by HGNC
Primary source
HGNC:HGNC:6074
See related
Ensembl:ENSG00000040933 MIM:600916
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
INPP4; TVAS1
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]
Expression
Ubiquitous expression in brain (RPKM 6.3), spleen (RPKM 4.2) and 24 other tissues See more
Orthologs

Genomic context

See INPP4A in Genome Data Viewer
Location:
2q11.2
Exon count:
36
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (98444538..98594392)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (99061321..99207496)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene von Willebrand factor A domain containing 3B Neighboring gene ATP synthase F1 subunit beta pseudogene 1 Neighboring gene cyclic nucleotide gated channel subunit alpha 3 Neighboring gene cytochrome c oxidase assembly factor 5 Neighboring gene unc-50 inner nuclear membrane RNA binding protein

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

Associated conditions

Description Tests
Genome-wide association of mood-incongruent psychotic bipolar disorder.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
inositol phosphate metabolic process TAS
Traceable Author Statement
more info
 
phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
 
phosphatidylinositol-3-phosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
 
recycling endosome membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
inositol polyphosphate-4-phosphatase type I A
Names
inositol polyphosphate-4-phosphatase, type I, 107kD
inositol polyphosphate-4-phosphatase, type I, 107kDa
type I inositol 3,4-bisphosphate 4-phosphatase
NP_001127696.1
NP_001127697.1
NP_001338353.1
NP_001338354.1
NP_001338355.1
NP_001338356.1
NP_001338357.1
NP_001338358.1
NP_001557.1
NP_004018.1
XP_006712562.1
XP_006712563.1
XP_006712564.1
XP_006712565.1
XP_006712566.1
XP_006712567.1
XP_006712568.1
XP_006712569.1
XP_006712571.1
XP_011509424.1
XP_011509425.1
XP_011509426.1
XP_011509427.1
XP_011509429.1
XP_016859483.1
XP_016859484.1
XP_016859485.1
XP_016859489.1
XP_016859490.1
XP_016859492.1
XP_024308644.1

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_029890.1 RefSeqGene

    Range
    5001..151176
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001134224.2NP_001127696.1  inositol polyphosphate-4-phosphatase type I A isoform d

    See identical proteins and their annotated locations for NP_001127696.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (d) uses an alternate, in-frame splice site in the coding region compared to variant a. The resulting isoform (d) is longer but has the same N- and C-termini compared to isoform a.
    Source sequence(s)
    AC010134, AF368319, BC028361
    Consensus CDS
    CCDS46369.1
    UniProtKB/Swiss-Prot
    Q96PE3
    Related
    ENSP00000074304.5, ENST00000074304.9
    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  2. NM_001134225.2NP_001127697.1  inositol polyphosphate-4-phosphatase type I A isoform c

    See identical proteins and their annotated locations for NP_001127697.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (c) lacks an alternate exon and uses an alternate, in-frame splice site in the coding region compared to variant a. The resulting isoform (c) is longer but has the same N- and C-termini compared to isoform a.
    Source sequence(s)
    AC010134, BC028361
    Consensus CDS
    CCDS46371.1
    UniProtKB/Swiss-Prot
    Q96PE3
    Related
    ENSP00000386777.3, ENST00000409851.7
    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  3. NM_001351424.1NP_001338353.1  inositol polyphosphate-4-phosphatase type I A isoform e

    Status: REVIEWED

    Source sequence(s)
    AC010134
    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  4. NM_001351425.2NP_001338354.1  inositol polyphosphate-4-phosphatase type I A isoform f

    Status: REVIEWED

    Description
    Transcript Variant: This variant (f), as well as variant g, encodes isoform f.
    Source sequence(s)
    AC010134
    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  5. NM_001351426.2NP_001338355.1  inositol polyphosphate-4-phosphatase type I A isoform f

    Status: REVIEWED

    Description
    Transcript Variant: This variant (g), as well as variant f, encodes isoform f.
    Source sequence(s)
    AC010134
    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  6. NM_001351427.2NP_001338356.1  inositol polyphosphate-4-phosphatase type I A isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (h), as well as variant a, encodes isoform a.
    Source sequence(s)
    AC010134
    Consensus CDS
    CCDS46370.1
    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  7. NM_001351428.2NP_001338357.1  inositol polyphosphate-4-phosphatase type I A isoform g

    Status: REVIEWED

    Source sequence(s)
    AC010134
    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  8. NM_001351429.2NP_001338358.1  inositol polyphosphate-4-phosphatase type I A isoform h

    Status: REVIEWED

    Source sequence(s)
    AC010134
    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  9. NM_001566.2NP_001557.1  inositol polyphosphate-4-phosphatase type I A isoform b

    See identical proteins and their annotated locations for NP_001557.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) contains an alternate exon in the 3' coding region and uses a different stop codon compared to variant a. The resulting isoform (b) is longer and has a distint C-terminus compared to isoform a.
    Source sequence(s)
    AC010134, BC028361, U96919
    Consensus CDS
    CCDS46372.1
    UniProtKB/Swiss-Prot
    Q96PE3
    Related
    ENSP00000387294.3, ENST00000409540.7
    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  10. NM_004027.3NP_004018.1  inositol polyphosphate-4-phosphatase type I A isoform a

    See identical proteins and their annotated locations for NP_004018.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) encodes the shortest isoform (a). Variants a and h both encode the same isoform (a).
    Source sequence(s)
    AC010134, BC028361, U26398
    Consensus CDS
    CCDS46370.1
    UniProtKB/Swiss-Prot
    Q96PE3
    Related
    ENSP00000386704.3, ENST00000409016.8
    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine

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_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    98444538..98594392
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452876.1XP_024308644.1  inositol polyphosphate-4-phosphatase type I A isoform X1

    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  2. XM_006712508.3XP_006712571.1  inositol polyphosphate-4-phosphatase type I A isoform X14

    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  3. XM_017003996.1XP_016859485.1  inositol polyphosphate-4-phosphatase type I A isoform X13

    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  4. XM_006712499.3XP_006712562.1  inositol polyphosphate-4-phosphatase type I A isoform X1

    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  5. XM_006712505.3XP_006712568.1  inositol polyphosphate-4-phosphatase type I A isoform X10

    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  6. XM_006712503.3XP_006712566.1  inositol polyphosphate-4-phosphatase type I A isoform X6

    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  7. XM_006712502.3XP_006712565.1  inositol polyphosphate-4-phosphatase type I A isoform X4

    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  8. XM_006712504.3XP_006712567.1  inositol polyphosphate-4-phosphatase type I A isoform X7

    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  9. XM_017004003.1XP_016859492.1  inositol polyphosphate-4-phosphatase type I A isoform X18

    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  10. XM_006712506.3XP_006712569.1  inositol polyphosphate-4-phosphatase type I A isoform X11

    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  11. XM_017004000.1XP_016859489.1  inositol polyphosphate-4-phosphatase type I A isoform X16

    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  12. XM_006712500.3XP_006712563.1  inositol polyphosphate-4-phosphatase type I A isoform X2

    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  13. XM_017003995.1XP_016859484.1  inositol polyphosphate-4-phosphatase type I A isoform X12

    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  14. XM_006712501.3XP_006712564.1  inositol polyphosphate-4-phosphatase type I A isoform X3

    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  15. XM_017003994.1XP_016859483.1  inositol polyphosphate-4-phosphatase type I A isoform X9

    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  16. XM_011511124.2XP_011509426.1  inositol polyphosphate-4-phosphatase type I A isoform X15

    See identical proteins and their annotated locations for XP_011509426.1

    UniProtKB/TrEMBL
    D3DVH3
    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  17. XM_017004001.1XP_016859490.1  inositol polyphosphate-4-phosphatase type I A isoform X17

    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  18. XM_011511123.2XP_011509425.1  inositol polyphosphate-4-phosphatase type I A isoform X8

    Conserved Domains (1) summary
    cd04048
    Location:44157
    C2A_Copine; C2 domain first repeat in Copine
  19. XM_011511122.2XP_011509424.1  inositol polyphosphate-4-phosphatase type I A isoform X5

    Conserved Domains (1) summary
    cl14603
    Location:32142
    C2; C2 domain
  20. XM_011511125.2XP_011509427.1  inositol polyphosphate-4-phosphatase type I A isoform X19

  21. XM_011511127.2XP_011509429.1  inositol polyphosphate-4-phosphatase type I A isoform X20

RNA

  1. XR_001738737.1 RNA Sequence

  2. XR_001738738.1 RNA Sequence

  3. XR_922916.2 RNA Sequence

  4. XR_922915.2 RNA Sequence

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