TOR2A

TOR2A
Identifikatori
Aliasi	TOR2A
Vanjski ID-jevi	OMIM: 608052 MGI: 1353596 HomoloGene: 25260 GeneCards: TOR2A
Lokacija gena (čovjek)
Hrom.	Hromosom 9 (čovjek)
Kraj	127,735,313 bp
Lokacija gena (miš)
Hrom.	Hromosom 2 (miš)
Kraj	32,762,244 bp
Ontologija gena
Molekularna funkcija	• ATP binding; • nucleotide binding; • ATPase activity; • hormone activity;
Ćelijska komponenta	• endoplasmic reticulum lumen; • Endoplazmatski retikulum; • nuclear envelope; • extracellular region;
Biološki proces	• protein homooligomerization; • chaperone cofactor-dependent protein refolding; • antimicrobial humoral immune response mediated by antimicrobial peptide; • regulation of signaling receptor activity; • GO:1901313 positive regulation of gene expression; • vasopressin secretion; • water homeostasis; • positive regulation of calcium ion transmembrane transport; • GO:0072468 Transdukcija signala;
	Izvori:Amigo / QuickGO
Ortolozi
	27433
	30933
	ENSG00000160404
	ENSMUSG00000009563
	Q5JU69; Q8N2E6
	P0C7W3; Q8R1J9
NM_001085347; NM_001134430; NM_001134431; NM_001252018; NM_001252021;
	NM_001252023; NM_130459
	NM_152800
NP_001078816; NP_001127902; NP_001127903; NP_001238947; NP_001238950;
	NP_001238952; NP_569726; NP_001127902.1
	NP_690013; NP_001356151; NP_001356152; NP_001356153; NP_001356154
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Torzin-2A je protein koji je kod ljudi kodiran genom TOR2A.^[5]^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 321 aminokiselina, а molekulska težina 35.714 Da.^[7]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MAAATRGCRP	WGSLLGLLGL	VSAAAAAWDL	ASLRCTLGAF	CECDFRPDLP
GLECDLAQHL	AGQHLAKALV	VKALKAFVRD	PAPTKPLVLS	LHGWTGTGKS
YVSSLLAHYL	FQGGLRSPRV	HHFSPVLHFP	HPSHIERYKK	DLKSWVQGNL
TACGRSLFLF	DEMDKMPPGL	MEVLRPFLGS	SWVVYGTNYR	KAIFIFISNT
GGKQINQVAL	EAWRSRRDRE	EILLQELEPV	ISRAVLDNPH	HGFSNSGIME
ERLLDAVVPF	LPLQRHHVRH	CVLNELAQLG	LEPRDEVVQA	VLDSTTFFPE
DEQLFSSNGC	KTVASRIAFF	L

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000160404 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000009563 - Ensembl, maj 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.
^ Ozelius LJ, Page CE, Klein C, Hewett JW, Mineta M, Leung J, Shalish C, Bressman SB, de Leon D, Brin MF, Fahn S, Corey DP, Breakefield XO (Mar 2000). "The TOR1A (DYT1) gene family and its role in early onset torsion dystonia". Genomics. 62 (3): 377–84. doi:10.1006/geno.1999.6039. PMID 10644435.
^ "Entrez Gene: TOR2A torsin family 2, member A".
^ "UniProt, Q5JU69". Pristupljeno 12. 9. 2021.

Dopunska literatura

Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Shichiri M, Ishimaru S, Ota T, et al. (2003). "Salusins: newly identified bioactive peptides with hemodynamic and mitogenic activities". Nat. Med. 9 (9): 1166–72. doi:10.1038/nm913. PMID 12910263. S2CID 52806064.
Clark HF, Gurney AL, Abaya E, et al. (2003). "The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. Bibcode:2004Natur.429..369H. doi:10.1038/nature02465. PMC 2734081. PMID 15164053.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Wang Z, Takahashi T, Saito Y, et al. (2006). "Salusin beta is a surrogate ligand of the mas-like G protein-coupled receptor MrgA1". Eur. J. Pharmacol. 539 (3): 145–50. doi:10.1016/j.ejphar.2006.03.064. PMID 16697365.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000160404 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000009563 - Ensembl, maj 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.

[pmid10644435-5] Ozelius LJ, Page CE, Klein C, Hewett JW, Mineta M, Leung J, Shalish C, Bressman SB, de Leon D, Brin MF, Fahn S, Corey DP, Breakefield XO (Mar 2000). "The TOR1A (DYT1) gene family and its role in early onset torsion dystonia". Genomics. 62 (3): 377–84. doi:10.1006/geno.1999.6039. PMID 10644435.

[entrez-6] "Entrez Gene: TOR2A torsin family 2, member A".

[UniProt-7] "UniProt, Q5JU69". Pristupljeno 12. 9. 2021.

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