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INPP5F inositol polyphosphate-5-phosphatase F [ Homo sapiens (human) ]

Gene ID: 22876, updated on 17-Jun-2019

Summary

Official Symbol
INPP5Fprovided by HGNC
Official Full Name
inositol polyphosphate-5-phosphatase Fprovided by HGNC
Primary source
HGNC:HGNC:17054
See related
Ensembl:ENSG00000198825 MIM:609389
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
SAC2; hSAC2; MSTP007; MSTPO47
Summary
The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
Expression
Broad expression in brain (RPKM 17.8), testis (RPKM 4.5) and 22 other tissues See more
Orthologs

Genomic context

See INPP5F in Genome Data Viewer
Location:
10q26.11
Exon count:
27
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (119704395..119830482)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (121485559..121588663)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene BCL2 associated athanogene 3 Neighboring gene thioredoxin pseudogene 1 Neighboring gene RNA, 7SL, cytoplasmic 846, pseudogene Neighboring gene uncharacterized LOC105378513 Neighboring gene phosphatase and actin regulator 2 pseudogene 1 Neighboring gene minichromosome maintenance complex binding protein Neighboring gene SEC23 interacting protein Neighboring gene microRNA 4682

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of inositol polyphosphate-5-phosphatase F (INPP5F) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13081, KIAA0966, MGC59773, MGC131851

Gene Ontology Provided by GOA

Process Evidence Code Pubs
adult locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
cardiac muscle hypertrophy in response to stress ISS
Inferred from Sequence or Structural Similarity
more info
 
clathrin-dependent endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of axon regeneration ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of peptidyl-serine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of tyrosine phosphorylation of STAT protein IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
 
phosphatidylinositol catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatidylinositol dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-mediated signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of receptor recycling IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell motility IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of endocytic recycling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of endocytic recycling IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of protein kinase B signaling IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axon IEA
Inferred from Electronic Annotation
more info
 
clathrin-coated endocytic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
clathrin-coated endocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with clathrin-coated pit IDA
Inferred from Direct Assay
more info
PubMed 
dendrite IEA
Inferred from Electronic Annotation
more info
 
early endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
early endosome membrane TAS
Traceable Author Statement
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
recycling endosome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
phosphatidylinositide phosphatase SAC2
Names
Sac domain-containing inositol phosphatase 2
sac domain-containing phosphoinositide 4-phosphatase 2
sac domain-containing phosphoinositide 5-phosphatase 2
NP_001230123.1
NP_001230124.1
NP_055752.1
XP_006717783.1
XP_011537826.1
XP_011537827.1
XP_011537829.2
XP_011537830.1
XP_011537831.1
XP_016871425.1
XP_024303665.1

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_044999.1 RefSeqGene

    Range
    98211..108105
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001243194.1NP_001230123.1  phosphatidylinositide phosphatase SAC2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC027672, AL133461, CN362016, DN992317
    Consensus CDS
    CCDS58098.1
    UniProtKB/Swiss-Prot
    Q9Y2H2
    Related
    ENSP00000496955.1, ENST00000650409.1
    Conserved Domains (1) summary
    pfam12456
    Location:1987
    hSac2; Inositol phosphatase
  2. NM_001243195.1NP_001230124.1  phosphatidylinositide phosphatase SAC2 isoform 3

    See identical proteins and their annotated locations for NP_001230124.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and lacks a portion of the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AI492073, AI783668, AL158014, BC052367, DB636424
    Consensus CDS
    CCDS81513.1
    UniProtKB/Swiss-Prot
    Q9Y2H2
    Related
    ENSP00000489864.1, ENST00000369081.3
    Conserved Domains (1) summary
    cl27434
    Location:50199
    Syja_N; SacI homology domain
  3. NM_014937.4NP_055752.1  phosphatidylinositide phosphatase SAC2 isoform 1

    See identical proteins and their annotated locations for NP_055752.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB023183, AC027672, AL158014
    Consensus CDS
    CCDS7616.1
    UniProtKB/Swiss-Prot
    Q9Y2H2
    Related
    ENSP00000497527.1, ENST00000650623.1
    Conserved Domains (2) summary
    pfam02383
    Location:50415
    Syja_N; SacI homology domain
    pfam12456
    Location:595697
    hSac2; Inositol phosphatase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    119704395..119830482
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539524.3XP_011537826.1  phosphatidylinositide phosphatase SAC2 isoform X1

    Conserved Domains (2) summary
    pfam02383
    Location:38403
    Syja_N; SacI homology domain
    pfam12456
    Location:583685
    hSac2; Inositol phosphatase
  2. XM_006717720.4XP_006717783.1  phosphatidylinositide phosphatase SAC2 isoform X6

    Related
    ENSP00000497368.1, ENST00000649251.1
    Conserved Domains (2) summary
    pfam12456
    Location:595629
    hSac2; Inositol phosphatase
    cl27434
    Location:50567
    Syja_N; SacI homology domain
  3. XM_011539525.3XP_011537827.1  phosphatidylinositide phosphatase SAC2 isoform X3

    See identical proteins and their annotated locations for XP_011537827.1

    Conserved Domains (2) summary
    pfam02383
    Location:73319
    Syja_N; SacI homology domain
    pfam12456
    Location:499601
    hSac2; Inositol phosphatase
  4. XM_024447897.1XP_024303665.1  phosphatidylinositide phosphatase SAC2 isoform X4

    Conserved Domains (2) summary
    pfam12456
    Location:427529
    hSac2; Inositol phosphatase
    cl27434
    Location:7399
    Syja_N; SacI homology domain
  5. XM_017015936.2XP_016871425.1  phosphatidylinositide phosphatase SAC2 isoform X3

    Conserved Domains (2) summary
    pfam02383
    Location:73319
    Syja_N; SacI homology domain
    pfam12456
    Location:499601
    hSac2; Inositol phosphatase
  6. XM_011539527.3XP_011537829.2  phosphatidylinositide phosphatase SAC2 isoform X2

  7. XM_011539528.3XP_011537830.1  phosphatidylinositide phosphatase SAC2 isoform X3

    See identical proteins and their annotated locations for XP_011537830.1

    Related
    ENSP00000497846.1, ENST00000649454.1
    Conserved Domains (2) summary
    pfam02383
    Location:73319
    Syja_N; SacI homology domain
    pfam12456
    Location:499601
    hSac2; Inositol phosphatase
  8. XM_011539529.2XP_011537831.1  phosphatidylinositide phosphatase SAC2 isoform X5

    Conserved Domains (1) summary
    pfam12456
    Location:109211
    hSac2; Inositol phosphatase
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