Kaptin (actin binding protein)

Kaptin is a protein that in humans is encoded by the KPTN gene.^[5][6]

KPTN
Identifiers
Aliases	KPTN, 2E4, MRT41, kaptin (actin binding protein), kaptin, actin binding protein, KICS4
External IDs	OMIM: 615620; MGI: 1890380; HomoloGene: 5127; GeneCards: KPTN; OMA:KPTN - orthologs
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19q13.32 Start 47,475,150 bp[1] End 47,484,265 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 A2|7 8.75 cM Start 15,853,820 bp[2] End 15,861,441 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum gonad parotid gland endothelial cell pituitary gland anterior pituitary apex of heart testicle ganglionic eminence right frontal lobe Top expressed in interventricular septum spermatocyte visual cortex superior frontal gyrus primary visual cortex spermatid neural layer of retina granulocyte dentate gyrus of hippocampal formation granule cell left lobe of liver More reference expression data BioGPS More reference expression data
Gene ontology Molecular function actin binding actin filament binding Cellular component cell projection actin cytoskeleton filamentous actin postsynaptic actin cytoskeleton stereocilium KICSTOR complex lysosome lysosomal membrane membrane lamellipodium Biological process actin filament organization cellular response to glucose starvation protein localization to lysosome negative regulation of TORC1 signaling cellular response to amino acid starvation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 11133 70394 Ensembl ENSG00000118162 ENSMUSG00000006021 UniProt Q9Y664 Q8VCX6 RefSeq (mRNA) NM_001291296 NM_007059 NM_133727 RefSeq (protein) NP_001278225 NP_008990 NP_598488 Location (UCSC) Chr 19: 47.48 – 47.48 Mb Chr 7: 15.85 – 15.86 Mb PubMed search [3] [4]
Wikidata
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Clinical

Mutations in this gene have been associated with a syndrome of acrocephaly, muscular hypotonia, global development delay, dyspraxia and hand-mouth synkinesia.^[7]