INPP5K inositol polyphosphate-5-phosphatase K [Homo sapiens (human)] - Gene

Summary

Official Symbol: INPP5Kprovided by HGNC
Official Full Name: inositol polyphosphate-5-phosphatase Kprovided by HGNC
Primary source: HGNC:HGNC:33882
See related: Ensembl:ENSG00000132376 MIM:607875; AllianceGenome:HGNC:33882
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: PPS; SKIP; MDCCAID
Summary: This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
Expression: Ubiquitous expression in fat (RPKM 17.9), lung (RPKM 14.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (1494577..1516612, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (1383334..1405368, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (1397871..1419906, complement)

Chromosome 17 - NC_000017.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

INPP5K controls the dynamic structure and signaling of wild-type and mutated, leukemia-associated IL-7 receptors.
Title: INPP5K controls the dynamic structure and signaling of wild-type and mutated, leukemia-associated IL-7 receptors.
INPP5K and Atlastin-1 maintain the nonuniform distribution of ER-plasma membrane contacts in neurons.
Title: INPP5K and Atlastin-1 maintain the nonuniform distribution of ER-plasma membrane contacts in neurons.
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
Title: INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
The phosphoinositide 5-phosphatase INPP5K: From gene structure to in vivo functions.
Title: The phosphoinositide 5-phosphatase INPP5K: From gene structure to in vivo functions.
The Prediction and Prognostic Significance of INPP5K Expression in Patients with Liver Cancer.
Title: The Prediction and Prognostic Significance of INPP5K Expression in Patients with Liver Cancer.
Phosphoinositide 5-phosphatases SKIP and SHIP2 in ruffles, the endoplasmic reticulum and the nucleus: An update.
Title: Phosphoinositide 5-phosphatases SKIP and SHIP2 in ruffles, the endoplasmic reticulum and the nucleus: An update.
our findings further support the essential role of INPP5K in the lens and skeletal muscle development in humans and zebrafish.
Title: INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family.
focused on the two genes CRK and INPP5K, which were regulated by rs1109303 in the occipital cortex and anterior cingulate cortex BA24, respectively
Title: Parkinson's Disease Risk Variant rs1109303 Regulates the Expression of INPP5K and CRK in Human Brain.
the distribution of genotype frequency exhibited no significant differences between the Parkinson's disease and control groups (P > 0.025) in INPP5K rs1109303 (P = 0.048, OR = 0.806, 95%CI = 0.650 - 0.998).
Title: Association analysis of NUCKS1 and INPP5K polymorphism with Parkinson's disease.
Mutations in INPP5K cause a congenital muscular dystrophy syndrome with short stature, cataracts, and intellectual disability.
Title: Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital muscular dystrophy with cataracts and intellectual disability MedGen: C4479410 OMIM: 617404 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-32158 (e-PCR)
- UniSTS:10508

SGC30584 (e-PCR)
- UniSTS:2327

D17S1376E (e-PCR)
- UniSTS:51257

WI-14374 (e-PCR)
- UniSTS:34667

A004Q21 (e-PCR)
- UniSTS:4222

RH11672 (e-PCR)
- UniSTS:16023

A004M12 (e-PCR)
- UniSTS:17823

SHGC-34337 (e-PCR)
- UniSTS:45795

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables inositol bisphosphate phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables inositol bisphosphate phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables inositol trisphosphate phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables inositol trisphosphate phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity	IEA Inferred from Electronic Annotation more info
enables inositol-1,4,5-trisphosphate 5-phosphatase activity	IEA Inferred from Electronic Annotation more info
enables lipid phosphatase activity	NAS Non-traceable Author Statement more info	PubMed
enables phosphatidylinositol phosphate 5-phosphatase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables phosphatidylinositol trisphosphate phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	TAS Traceable Author Statement more info
enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables vasopressin receptor activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in actin cytoskeleton organization	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to cAMP	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to epidermal growth factor stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to hormone stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to insulin stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to tumor necrosis factor	IDA Inferred from Direct Assay more info	PubMed
involved_in dephosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in dephosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glucose homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation by host of viral transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of D-glucose transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of MAP kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of calcium ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of dephosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of glycogen (starch) synthase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of glycogen biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of glycogen biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of insulin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of insulin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of peptidyl-serine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of peptidyl-threonine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein targeting to membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of single stranded viral RNA replication via double stranded DNA intermediate	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of stress fiber assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidylinositol biosynthetic process	TAS Traceable Author Statement more info
acts_upstream_of_or_within phosphatidylinositol dephosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidylinositol dephosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of renal water transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of urine volume	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of glycogen biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in ruffle assembly	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in ruffle	IBA Inferred from Biological aspect of Ancestor more info
located_in ruffle	IDA Inferred from Direct Assay more info	PubMed
located_in ruffle membrane	IDA Inferred from Direct Assay more info	PubMed
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: inositol polyphosphate 5-phosphatase K

Names: phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase; phosphatidylinositol-4,5-bisphosphate 5-phosphatase; skeletal muscle and kidney-enriched inositol phosphatase

NP_001129114.1

EC 3.1.3.36

EC 3.1.3.56

EC 3.1.3.86

NP_057616.2

EC 3.1.3.36

EC 3.1.3.56

EC 3.1.3.86

NP_570122.1

EC 3.1.3.36

EC 3.1.3.56

EC 3.1.3.86

XP_011522236.1

EC 3.1.3.36

EC 3.1.3.56

EC 3.1.3.86

XP_024306570.1

EC 3.1.3.36

EC 3.1.3.56

EC 3.1.3.86

XP_047292250.1

EC 3.1.3.36

EC 3.1.3.56

EC 3.1.3.86

XP_054172472.1

EC 3.1.3.36

EC 3.1.3.56

EC 3.1.3.86

XP_054172473.1

EC 3.1.3.36

EC 3.1.3.56

EC 3.1.3.86

XP_054172474.1

EC 3.1.3.36

EC 3.1.3.56

EC 3.1.3.86

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_029891.1 RefSeqGene

Range

5277..27312

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001135642.2 → NP_001129114.1 inositol polyphosphate 5-phosphatase K isoform 2

See identical proteins and their annotated locations for NP_001129114.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) has an additional segment in its 5' end, as compared to variant 1. The resulting isoform, isoform 2, has a shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same isoform, isoform 2.

Source sequence(s)

AB036829, AC100748, BC004362, BM510617

Consensus CDS

CCDS11005.1

UniProtKB/Swiss-Prot

Q9BT40

Related

ENSP00000385177.4, ENST00000406424.8

Conserved Domains (1) summary

cl00490
Location:1 → 244

EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
NM_016532.4 → NP_057616.2 inositol polyphosphate 5-phosphatase K isoform 1

See identical proteins and their annotated locations for NP_057616.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform of this protein.

Source sequence(s)

AB036829, AC100748, BC004362, BM510617

Consensus CDS

CCDS11004.1

UniProtKB/Swiss-Prot

B2R6I2, B2R750, D3DTH8, Q15733, Q9BT40, Q9NPJ5, Q9P2R5

Related

ENSP00000413937.2, ENST00000421807.7

Conserved Domains (2) summary

pfam17751
Location:331 → 431

SKICH; SKICH domain

cl00490
Location:14 → 320

EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
NM_130766.3 → NP_570122.1 inositol polyphosphate 5-phosphatase K isoform 2

See identical proteins and their annotated locations for NP_570122.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an additional segment in its 5' end, as compared to variant 1. The resulting isoform, isoform 2, has a shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same isoform, isoform 2.

Source sequence(s)

AB036829, AC100748, BC004362, BM510617

Consensus CDS

CCDS11005.1

UniProtKB/Swiss-Prot

Q9BT40

Related

ENSP00000318476.6, ENST00000320345.10

Conserved Domains (1) summary

cl00490
Location:1 → 244

EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

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_000017.11 Reference GRCh38.p14 Primary Assembly

Range

1494577..1516612 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047436294.1 → XP_047292250.1 inositol polyphosphate 5-phosphatase K isoform X2

UniProtKB/TrEMBL

B7Z4V9
XM_024450802.2 → XP_024306570.1 inositol polyphosphate 5-phosphatase K isoform X1

Conserved Domains (1) summary

cl00490
Location:1 → 244

EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
XM_011523934.2 → XP_011522236.1 inositol polyphosphate 5-phosphatase K isoform X1

See identical proteins and their annotated locations for XP_011522236.1

UniProtKB/Swiss-Prot

Q9BT40

Conserved Domains (1) summary

cl00490
Location:1 → 244

EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

1383334..1405368 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054316499.1 → XP_054172474.1 inositol polyphosphate 5-phosphatase K isoform X2

UniProtKB/TrEMBL

B7Z4V9
XM_054316498.1 → XP_054172473.1 inositol polyphosphate 5-phosphatase K isoform X1
XM_054316497.1 → XP_054172472.1 inositol polyphosphate 5-phosphatase K isoform X1