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

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; AllianceGenome:HGNC:17054
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: mouse all
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Genomic context

Location:: 10q26.11

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (119726050..119829147)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (120623626..120726730)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (121485562..121588659)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Parkinson's Disease rs117896735 Variant Regulates INPP5F Expression in Brain Tissues and Increases Risk of Alzheimer's Disease.
Title: Parkinson's Disease rs117896735 Variant Regulates INPP5F Expression in Brain Tissues and Increases Risk of Alzheimer's Disease.
Imprinting aberrations of SNRPN, ZAC1 and INPP5F genes involved in the pathogenesis of congenital heart disease with extracardiac malformations.
Title: Imprinting aberrations of SNRPN, ZAC1 and INPP5F genes involved in the pathogenesis of congenital heart disease with extracardiac malformations.
we identified inositol polyphosphate-5-phosphatase F (INPP5F) as a prognostic factor for progression-free survival in Chronic lymphocytic leukemia
Title: Gene expression of INPP5F as an independent prognostic marker in fludarabine-based therapy of chronic lymphocytic leukemia.
These findings suggest that INPP5F is a potential tumor suppressor in gliomas via inhibition of STAT3 pathway, and that deregulation of INPP5F may lead to contribution to gliomagenesis.
Title: Inositol Polyphosphate-5-Phosphatase F (INPP5F) inhibits STAT3 activity and suppresses gliomas tumorigenicity.
Sac2 colocalizes with early endosomal markers and is recruited to transferrin-containing vesicles during endocytic recycling.
Title: Spatiotemporal control of phosphatidylinositol 4-phosphate by Sac2 regulates endocytic recycling.
Inpp5f is a polyphosphoinositide phosphatase that regulates cardiac hypertrophic responsiveness.
Title: Inpp5f is a polyphosphoinositide phosphatase that regulates cardiac hypertrophic responsiveness.
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-17476 (e-PCR)
- UniSTS:26136

RH44659 (e-PCR)
- UniSTS:61727

D10S1392E (e-PCR)
- UniSTS:151389

RH15702 (e-PCR)
- UniSTS:72844

90 (e-PCR), detects polymorphism
- UniSTS:64933

MARC_51762-51763:1152648011:2 (e-PCR)
- UniSTS:508095

G29639 (e-PCR)
- UniSTS:7642

G20627 (e-PCR)
- UniSTS:12254

A005Z28 (e-PCR)
- UniSTS:12255

SGC32380 (e-PCR)
- UniSTS:99816

D10S1740 (e-PCR)
- UniSTS:69111

WI-22037 (e-PCR)
- UniSTS:17143

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables inositol monophosphate 4-phosphatase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol phosphate 4-phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol phosphate 4-phosphatase activity	TAS Traceable Author Statement more info
NOT enables phosphatidylinositol phosphate 5-phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol phosphate 5-phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4-phosphate phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in adult locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle hypertrophy in response to stress	ISS Inferred from Sequence or Structural Similarity more info
involved_in clathrin-dependent endocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of axon regeneration	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of tyrosine phosphorylation of STAT protein	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylinositol biosynthetic process	TAS Traceable Author Statement more info
involved_in phosphatidylinositol catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in phosphatidylinositol dephosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylinositol dephosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidylinositol-mediated signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of receptor recycling	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of endocytic recycling	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of endocytic recycling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axon	IEA Inferred from Electronic Annotation more info
is_active_in clathrin-coated endocytic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in 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
located_in dendrite	IEA Inferred from Electronic Annotation more info
is_active_in early endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome membrane	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in recycling endosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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

EC 3.1.3.25

NP_001230124.1

EC 3.1.3.25

NP_055752.1

EC 3.1.3.25

XP_006717783.1

EC 3.1.3.25

XP_011537829.2

EC 3.1.3.25

XP_011537830.1

EC 3.1.3.25

XP_011537831.1

EC 3.1.3.25

XP_047280790.1

EC 3.1.3.25

XP_047280792.1

EC 3.1.3.25

XP_047280793.1

EC 3.1.3.25

XP_047280794.1

EC 3.1.3.25

XP_054221199.1

EC 3.1.3.25

XP_054221200.1

EC 3.1.3.25

XP_054221201.1

EC 3.1.3.25

XP_054221202.1

EC 3.1.3.25

XP_054221203.1

EC 3.1.3.25

XP_054221204.1

EC 3.1.3.25

XP_054221205.1

EC 3.1.3.25

XP_054221206.1

EC 3.1.3.25

NCBI Reference Sequences (RefSeq)

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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

NG_044999.2 RefSeqGene

Range

26656..129753

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1061

mRNA and Protein(s)

NM_001243194.2 → NP_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:19 → 87

hSac2; Inositol phosphatase
NM_001243195.2 → NP_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:50 → 199

Syja_N; SacI homology domain
NM_014937.4 → NP_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

B3KRF1, D3DRD1, Q2T9J4, Q5W135, Q5W136, Q6NVY2, Q86U97, Q9H3D9, Q9NT51, Q9Y2H2

UniProtKB/TrEMBL

A0A3B3IRJ9

Related

ENSP00000497527.1, ENST00000650623.2

Conserved Domains (2) summary

COG5329
Location:50 → 567

COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]

pfam12456
Location:596 → 697

hSac2; Inositol phosphatase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

119726050..119829147

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006717720.5 → XP_006717783.1 phosphatidylinositide phosphatase SAC2 isoform X6

UniProtKB/TrEMBL

A0A3B3ISI3

Related

ENSP00000497368.1, ENST00000649251.1

Conserved Domains (2) summary

pfam12456
Location:595 → 629

hSac2; Inositol phosphatase

cl27434
Location:50 → 567

Syja_N; SacI homology domain
XM_047424834.1 → XP_047280790.1 phosphatidylinositide phosphatase SAC2 isoform X2

UniProtKB/TrEMBL

A0A3B3ITL0
XM_047424836.1 → XP_047280792.1 phosphatidylinositide phosphatase SAC2 isoform X2

UniProtKB/TrEMBL

A0A3B3ITL0

Related

ENSP00000497772.1, ENST00000647699.1
XM_047424837.1 → XP_047280793.1 phosphatidylinositide phosphatase SAC2 isoform X3
XM_011539527.4 → XP_011537829.2 phosphatidylinositide phosphatase SAC2 isoform X1

UniProtKB/TrEMBL

A0A3B3IRJ9
XM_011539528.4 → XP_011537830.1 phosphatidylinositide phosphatase SAC2 isoform X2

See identical proteins and their annotated locations for XP_011537830.1

UniProtKB/TrEMBL

A0A3B3IRJ9, A0A3B3ITL0

Related

ENSP00000497846.1, ENST00000649454.1

Conserved Domains (2) summary

pfam02383
Location:73 → 319

Syja_N; SacI homology domain

pfam12456
Location:499 → 601

hSac2; Inositol phosphatase
XM_047424838.1 → XP_047280794.1 phosphatidylinositide phosphatase SAC2 isoform X4
XM_011539529.3 → XP_011537831.1 phosphatidylinositide phosphatase SAC2 isoform X5

Conserved Domains (1) summary

pfam12456
Location:109 → 211

hSac2; Inositol phosphatase

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

120623626..120726730

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054365231.1 → XP_054221206.1 phosphatidylinositide phosphatase SAC2 isoform X6
XM_054365225.1 → XP_054221200.1 phosphatidylinositide phosphatase SAC2 isoform X2

UniProtKB/TrEMBL

A0A3B3ITL0
XM_054365226.1 → XP_054221201.1 phosphatidylinositide phosphatase SAC2 isoform X2

UniProtKB/TrEMBL

A0A3B3ITL0
XM_054365228.1 → XP_054221203.1 phosphatidylinositide phosphatase SAC2 isoform X3
XM_054365224.1 → XP_054221199.1 phosphatidylinositide phosphatase SAC2 isoform X1
XM_054365227.1 → XP_054221202.1 phosphatidylinositide phosphatase SAC2 isoform X2

UniProtKB/TrEMBL

A0A3B3ITL0
XM_054365229.1 → XP_054221204.1 phosphatidylinositide phosphatase SAC2 isoform X4
XM_054365230.1 → XP_054221205.1 phosphatidylinositide phosphatase SAC2 isoform X5