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    KPTN kaptin, actin binding protein [ Homo sapiens (human) ]

    Gene ID: 11133, updated on 8-Jul-2021

    Summary

    Official Symbol
    KPTNprovided by HGNC
    Official Full Name
    kaptin, actin binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:6404
    See related
    Ensembl:ENSG00000118162 MIM:615620
    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
    2E4; KICS4; MRT41
    Summary
    This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. This protein is part of the KICSTOR protein complex that localizes to lysosomes. Mutations in this gene result in an autosomal recessive form of intellectual disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2017]
    Expression
    Ubiquitous expression in bone marrow (RPKM 1.7), testis (RPKM 1.7) and 25 other tissues See more
    Orthologs
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    Genomic context

    See KPTN in Genome Data Viewer
    Location:
    19q13.32
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (47475141..47486792, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (47978407..47987476, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Meis homeobox 3 Neighboring gene solute carrier family 8 member A2 Neighboring gene NAPA antisense RNA 1 Neighboring gene NSF attachment protein alpha Neighboring gene zinc finger protein 541

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of KICSTOR complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of KICSTOR complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in lamellipodium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in stereocilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    KICSTOR complex protein kaptin
    Names
    actin-associated protein 2E4
    epididymis secretory sperm binding protein

    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

    1. NG_034097.1 RefSeqGene

      Range
      5046..14115
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001291296.2NP_001278225.1  KICSTOR complex protein kaptin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two consecutive exons in the 5' coding region, but maintains the reading frame, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AK298672, BG388698, DA129265, DR759729
      UniProtKB/Swiss-Prot
      Q9Y664
      Conserved Domains (1) summary
      pfam13517
      Location:261328
      VCBS; Repeat domain in Vibrio, Colwellia, Bradyrhizobium and Shewanella
    2. NM_007059.4NP_008990.2  KICSTOR complex protein kaptin isoform 1

      See identical proteins and their annotated locations for NP_008990.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF105369, AK023996, AK225419, DA129265
      Consensus CDS
      CCDS42583.1
      UniProtKB/Swiss-Prot
      Q9Y664
      Related
      ENSP00000337850.2, ENST00000338134.8
      Conserved Domains (1) summary
      pfam13517
      Location:317384
      VCBS; Repeat domain in Vibrio, Colwellia, Bradyrhizobium and Shewanella

    RNA

    1. NR_111923.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an additional segment and an additional exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF105369, AK298672, BG388698, DA129265
      Related
      ENST00000594208.5

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      47475141..47486792 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017026228.1XP_016881717.1  KICSTOR complex protein kaptin isoform X2

    2. XM_017026226.1XP_016881715.1  KICSTOR complex protein kaptin isoform X1

    3. XM_017026227.1XP_016881716.1  KICSTOR complex protein kaptin isoform X1

    4. XM_024451333.1XP_024307101.1  KICSTOR complex protein kaptin isoform X3

      Conserved Domains (1) summary
      pfam13517
      Location:317384
      VCBS; Repeat domain in Vibrio, Colwellia, Bradyrhizobium and Shewanella
    5. XM_017026229.1XP_016881718.1  KICSTOR complex protein kaptin isoform X4

    RNA

    1. XR_001753597.1 RNA Sequence

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