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inpp5ka inositol polyphosphate-5-phosphatase Ka [ Danio rerio (zebrafish) ]

Gene ID: 100037338, updated on 14-Nov-2024

Summary

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Official Symbol
inpp5kaprovided by ZNC
Official Full Name
inositol polyphosphate-5-phosphatase Kaprovided by ZNC
Primary source
ZFIN:ZDB-GENE-070410-101
See related
Ensembl:ENSDARG00000099563 AllianceGenome:ZFIN:ZDB-GENE-070410-101
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Danio rerio
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as
inpp5k; zgc:162883
Summary
Predicted to enable phosphatase activity. Acts upstream of or within lens development in camera-type eye; neuromuscular junction development, skeletal muscle fiber; and somite development. Predicted to be active in several cellular components, including endoplasmic reticulum; neuron projection; and ruffle. Is expressed in brain; head; muscle; and post-vent region. Used to study congenital muscular dystrophy with cataracts and intellectual disability and muscular dystrophy-dystroglycanopathy type B1. Human ortholog(s) of this gene implicated in congenital muscular dystrophy with cataracts and intellectual disability. Orthologous to human INPP5K (inositol polyphosphate-5-phosphatase K). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs
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Genomic context

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See inpp5ka in Genome Data Viewer
Location:
chromosome: 15
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCz11 (GCF_000002035.6) 15 NC_007126.7 (33843574..33865029)
105 previous assembly GRCz10 (GCF_000002035.5) 15 NC_007126.6 (33985577..34007050)

Chromosome 15 - NC_007126.7Genomic Context describing neighboring genes Neighboring gene NEDD4 binding protein 2-like 2 Neighboring gene matrix metallopeptidase 13b Neighboring gene tektin 1 Neighboring gene sialic acid-binding Ig-like lectin 11

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • BioProject: PRJEB1986
  • Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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Related articles in PubMed

  1. INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family. Yousaf S, et al. Clin Genet, 2018 Mar. PMID 28940338
  2. Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy. Osborn DPS, et al. Am J Hum Genet, 2017 Mar 2. PMID 28190459, Free PMC Article
  3. Duplicated zebrafish (Danio rerio) inositol phosphatases inpp5ka and inpp5kb diverged in expression pattern and function. Shukla D, et al. Dev Genes Evol, 2023 Jun. PMID 37184573, Free PMC Article
  4. Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. Wiessner M, et al. Am J Hum Genet, 2017 Mar 2. PMID 28190456, Free PMC Article
  5. INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. Hathazi D, et al. Brain, 2021 Sep 4. PMID 33792664, Free PMC Article

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Duplicated zebrafish (Danio rerio) inositol phosphatases inpp5ka and inpp5kb diverged in expression pattern and function.
    Title: Duplicated zebrafish (Danio rerio) inositol phosphatases inpp5ka and inpp5kb diverged in expression pattern and function.
Submit: New GeneRIF Correction

General gene information

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Homology

Gene Ontology Provided by ZFIN

Function Evidence Code Pubs
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
  
enables phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within camera-type eye development IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within lens development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within neuromuscular junction development, skeletal muscle fiber IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within phosphatidylinositol dephosphorylation IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within skeletal muscle fiber development IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within skeletal muscle fiber development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within somite development IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
inositol polyphosphate 5-phosphatase Ka
NP_001082962.2
XP_005157680.1
XP_009290059.1
XP_009290060.1
XP_068069538.1

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.

mRNA and Protein(s)

  1. NM_001089493.1 → NP_001082962.2  inositol polyphosphate 5-phosphatase Ka

    Status: PROVISIONAL

    Source sequence(s)
    BC139658
    UniProtKB/TrEMBL
    A0A8M1ND52, A4QP54
    Related
    ENSDARP00000141168.1, ENSDART00000169037.2
    Conserved Domains (1) summary
    cd09094
    Location:24 → 340
    INPP5c_INPP5J-like; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of inositol polyphosphate 5-phosphatase J and related proteins

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

Reference GRCz11 Primary Assembly

Genomic

  1. NC_007126.7 Reference GRCz11 Primary Assembly

    Range
    33843574..33865029
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005157623.5 → XP_005157680.1  inositol polyphosphate 5-phosphatase Ka isoform X4

    UniProtKB/TrEMBL
    A0A8M2B3T4, A4QP54
    Conserved Domains (1) summary
    cd09094
    Location:24 → 349
    INPP5c_INPP5J-like; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of inositol polyphosphate 5-phosphatase J and related proteins

  2. XM_068213437.1 → XP_068069538.1  inositol polyphosphate 5-phosphatase Ka isoform X3

  3. XM_009291784.4 → XP_009290059.1  inositol polyphosphate 5-phosphatase Ka isoform X1

    UniProtKB/TrEMBL
    A0A8M3AHJ9, A4QP54
    Conserved Domains (1) summary
    cd09094
    Location:85 → 410
    INPP5c_INPP5J-like; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of inositol polyphosphate 5-phosphatase J and related proteins

  4. XM_009291785.4 → XP_009290060.1  inositol polyphosphate 5-phosphatase Ka isoform X2

    UniProtKB/TrEMBL
    A0A8M3B177, A4QP54
    Conserved Domains (1) summary
    cd09094
    Location:85 → 401
    INPP5c_INPP5J-like; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of inositol polyphosphate 5-phosphatase J and related proteins
Nucleotide Protein
Heading Accession and Version

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