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

Gene ID: 11133, updated on 11-Sep-2019

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; 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

Genomic context

See KPTN in Genome Data Viewer
Location:
19q13.32
Exon count:
17
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (47475141..47486792, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (47978398..47987521, 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
actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
actin filament organization IEA
Inferred from Electronic Annotation
more info
 
cellular response to amino acid starvation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to glucose starvation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of TORC1 signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to lysosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
KICSTOR complex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with filamentous actin IDA
Inferred from Direct Assay
more info
PubMed 
lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
postsynaptic actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
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)

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 Annotation Release 109 details...Open this link in a new tab

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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