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Kptn kaptin [ Mus musculus (house mouse) ]

Gene ID: 70394, updated on 5-Mar-2024

Summary

Official Symbol
Kptnprovided by MGI
Official Full Name
kaptinprovided by MGI
Primary source
MGI:MGI:1890380
See related
Ensembl:ENSMUSG00000006021 AllianceGenome:MGI:1890380
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
2E4; 2310042D10Rik; C030013F01Rik
Summary
Predicted to enable actin filament binding activity. Predicted to be involved in cellular response to starvation; negative regulation of TORC1 signaling; and protein localization to lysosome. Predicted to be located in postsynaptic actin cytoskeleton. Predicted to be part of KICSTOR complex and filamentous actin. Predicted to be active in lamellipodium. Human ortholog(s) of this gene implicated in autosomal recessive non-syndromic intellectual disability. Orthologous to human KPTN (kaptin, actin binding protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary adult (RPKM 13.4), subcutaneous fat pad adult (RPKM 11.6) and 28 other tissues See more
Orthologs
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Genomic context

Location:
7 A2; 7 8.75 cM
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (15853801..15861441)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (16119876..16127516)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene zinc finger protein 541 Neighboring gene STARR-seq mESC enhancer starr_18124 Neighboring gene STARR-positive B cell enhancer ABC_E541 Neighboring gene N-ethylmaleimide sensitive fusion protein attachment protein alpha Neighboring gene STARR-positive B cell enhancer ABC_E6515 Neighboring gene solute carrier family 8 (sodium/calcium exchanger), member 2 Neighboring gene Meis homeobox 3

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (3) 
  • Endonuclease-mediated (1) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables actin binding IEA
Inferred from Electronic Annotation
more info
 
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables actin filament binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in actin filament organization IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to amino acid starvation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cellular response to amino acid starvation ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to glucose starvation ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of TORC1 signaling IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of TORC1 signaling ISO
Inferred from Sequence Orthology
more info
 
involved_in protein localization to lysosome ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
part_of KICSTOR complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of KICSTOR complex ISO
Inferred from Sequence Orthology
more info
 
located_in actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
part_of filamentous actin ISO
Inferred from Sequence Orthology
more info
 
is_active_in lamellipodium IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in lamellipodium ISO
Inferred from Sequence Orthology
more info
 
located_in lysosome IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in postsynaptic actin cytoskeleton ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
KICSTOR complex protein kaptin
Names
actin-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.

mRNA and Protein(s)

  1. NM_133727.2NP_598488.2  KICSTOR complex protein kaptin

    See identical proteins and their annotated locations for NP_598488.2

    Status: VALIDATED

    Source sequence(s)
    AK009746, BE993711, BU953076, BY269246
    Consensus CDS
    CCDS20844.1
    UniProtKB/Swiss-Prot
    Q8VCX6
    UniProtKB/TrEMBL
    G3X8R1
    Related
    ENSMUSP00000006178.5, ENSMUST00000006178.5
    Conserved Domains (1) summary
    pfam13517
    Location:316379
    VCBS; Repeat domain in Vibrio, Colwellia, Bradyrhizobium and Shewanella

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    15853801..15861441
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)