Kaptin (actin binding protein)

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
Gene location (Human)
Chr.	Chromosome 19 (human)
End	47,484,265 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	15,861,441 bp
RNA expression pattern
	Top expressed in
	cerebellar hemisphere; ; pituitary gland; ; parotid gland; ; cerebellum; ; anterior pituitary; ; hypothalamus;
	More reference expression data
	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
	11133
	70394
	ENSG00000118162
	ENSMUSG00000006021
	Q9Y664
	Q8VCX6
	NM_001291296; NM_007059
	NM_133727
	NP_001278225; NP_008990
	NP_598488
	Wikidata
View/Edit Human	View/Edit Mouse

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

Model organisms[]

*Kptn* knockout mouse phenotype
Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
Body weight	Abnormal^[7]
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Abnormal^[8]
Auditory brainstem response	Normal
DEXA	Abnormal^[9]
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Abnormal^[10]
Haematology	Normal
Peripheral blood lymphocytes	Abnormal^[11]
Micronucleus test	Normal
Heart weight	Normal
Salmonella infection	Abnormal^[12]
Citrobacter infection	Normal^[13]
All tests and analysis from^[14]^[15]

Model organisms have been used in the study of KPTN function. A conditional knockout mouse line, called Kptn^{tm1a(EUCOMM)Wtsi}^[16]^[17] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.^[18]^[19]^[20]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[14]^[21] Twenty two tests were carried out on mutant mice and six significant abnormalities were observed.^[14] Homozygous mutant mice had hyperalbuminemia, decreased mature B cell numbers and increased susceptibility to bacterial infection. Female mice also had increased body weight, body fat and impaired glucose tolerance.^[14]

Clinical[]

Mutations in this gene have been associated with a syndrome of acrocephaly, muscular hypotonia, global development delay, dyspraxia and hand-mouth synkinesia.^[22]

References[]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000118162 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000006021 - Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ "Entrez Gene: KPTN kaptin (actin binding protein)".
^ "Body weight data for Kptn". Wellcome Trust Sanger Institute.
^ "Glucose tolerance test data for Kptn". Wellcome Trust Sanger Institute.
^ "DEXA data for Kptn". Wellcome Trust Sanger Institute.
^ "Clinical chemistry data for Kptn". Wellcome Trust Sanger Institute.
^ "Peripheral blood lymphocytes data for Kptn". Wellcome Trust Sanger Institute.
^ "Salmonella infection data for Kptn". Wellcome Trust Sanger Institute.
^ "Citrobacter infection data for Kptn". Wellcome Trust Sanger Institute.
^ ^a ^b ^c ^d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
^ "International Knockout Mouse Consortium".
^ "Mouse Genome Informatics".
^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, et al. (June 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
^ Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
^ van der Weyden L, White JK, Adams DJ, Logan DW (June 2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.
^ 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.

This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by .

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000118162 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid10099934-5] 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.

[entrez-6] "Entrez Gene: KPTN kaptin (actin binding protein)".

[Body_weight-7] "Body weight data for Kptn". Wellcome Trust Sanger Institute.

[Glucose_tolerance_test-8] "Glucose tolerance test data for Kptn". Wellcome Trust Sanger Institute.

[DEXA-9] "DEXA data for Kptn". Wellcome Trust Sanger Institute.

[Clinical_chemistry-10] "Clinical chemistry data for Kptn". Wellcome Trust Sanger Institute.

[Peripheral_blood_lymphocytes-11] "Peripheral blood lymphocytes data for Kptn". Wellcome Trust Sanger Institute.

[''Salmonella''_infection-12] "Salmonella infection data for Kptn". Wellcome Trust Sanger Institute.

[''Citrobacter''_infection-13] "Citrobacter infection data for Kptn". Wellcome Trust Sanger Institute.

[mgp_reference-14] Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.

[15] Mouse Resources Portal, Wellcome Trust Sanger Institute.

[allele_ref-16] "International Knockout Mouse Consortium".

[mgi_allele_ref-17] "Mouse Genome Informatics".

[pmid21677750-18] Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, et al. (June 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.

[mouse_library-19] Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-20] Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.

[pmid21722353-21] van der Weyden L, White JK, Adams DJ, Logan DW (June 2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

[Lucena2020-22] 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.

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