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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) Band 19q13.32 Start 47,475,150 bp End 47,484,265 bp
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7 A2|7 8.75 cM Start 15,853,820 bp End 15,861,441 bp
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
Wikidata
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Kaptin is a protein that in humans is encoded by the KPTN gene.

Clinical

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

References

1. ^ GRCh38: Ensembl release 89: ENSG00000118162 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000006021 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Bearer EL, Abraham MT (February 1999). "2E4 (kaptin): a novel actin-associated protein from human blood platelets found in lamellipodia and the tips of the stereocilia of the inner ear". European Journal of Cell Biology. 78 (2): 117–26. doi:10.1016/s0171-9335(99)80013-2. PMC 3376092. PMID 10099934.
6. "Entrez Gene: KPTN kaptin (actin binding protein)".
7. Lucena PH, Armani-Franceschi G, Bispo-Torres AC, Bandeira ID, Lucena MF, Maldonado I, et al. (2020). "KPTN gene homozygous variant-related syndrome in the northeast of Brazil: A case report". Am J Med Genet A. 182 (4): 762–767. doi:10.1002/ajmg.a.61492. PMID 31999056. S2CID 210945773.

Further reading

• Bearer EL, Prakash JM, Li Z (2002). "Actin dynamics in platelets". International Review of Cytology. 217: 137–82. doi:10.1016/S0074-7696(02)17014-8. ISBN 9780123646217. PMC 3376087. PMID 12019562.
• Bearer EL (March 1992). "An actin-associated protein present in the microtubule organizing center and the growth cones of PC-12 cells". The Journal of Neuroscience. 12 (3): 750–61. doi:10.1523/jneurosci.12-03-00750.1992. PMC 3376081. PMID 1372044.
• Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Bearer EL, Chen AF, Chen AH, Li Z, Mark HF, Smith RJ, Jackson CL (May 2000). "2E4/Kaptin (KPTN)--a candidate gene for the hearing loss locus, DFNA4". Annals of Human Genetics. 64 (Pt 3): 189–96. doi:10.1046/j.1469-1809.2000.6430189.x. PMC 3376086. PMID 11409409.
• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.

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