Kptn kaptin [Mus musculus (house mouse)] - Gene

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 several processes, including cellular response to amino acid starvation; cellular response to glucose starvation; and negative regulation of TORC1 signaling. Predicted to be located in postsynaptic actin cytoskeleton and stereocilium. Predicted to be part of KICSTOR complex and filamentous actin. Predicted to be active in lamellipodium. Used to study autosomal recessive intellectual developmental disorder 41. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 41. Orthologous to human KPTN (kaptin, actin binding protein). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in ovary adult (RPKM 13.4), subcutaneous fat pad adult (RPKM 11.6) and 28 other tissues See more
Orthologs: human all
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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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	ISO Inferred from Sequence Orthology more info
enables actin filament binding	ISS Inferred from Sequence or Structural Similarity 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 amino acid starvation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to glucose starvation	ISO Inferred from Sequence Orthology more info
involved_in cellular response to glucose starvation	ISS Inferred from Sequence or Structural Similarity 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 negative regulation of TORC1 signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to lysosome	ISO Inferred from Sequence Orthology more info
involved_in protein localization to lysosome	ISS Inferred from Sequence or Structural Similarity 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
part_of KICSTOR complex	ISS Inferred from Sequence or Structural Similarity more info
part_of filamentous actin	ISO Inferred from Sequence Orthology more info
part_of filamentous actin	ISS Inferred from Sequence or Structural Similarity 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 lamellipodium	ISS Inferred from Sequence or Structural Similarity more info
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
located_in postsynaptic actin cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in stereocilium	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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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.