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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
    all
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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
    • 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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