ALS2CR8

ALS2CR8
Identifikatori
Aliasi	CARF
Vanjski ID-jevi	OMIM: 607586 MGI: 2182269 HomoloGene: 11689 GeneCards: CARF
Lokacija gena (čovjek)
Hrom.	Hromosom 2 (čovjek)
Kraj	202,988,263 bp
Lokacija gena (miš)
Hrom.	Hromosom 1 (miš)
Kraj	60,153,953 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity; • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding; • vezivanje sa DNK; • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific;
Ćelijska komponenta	• Jedarce; • nukleoplazma; • jedro;
Biološki proces	• cellular response to calcium ion; • positive regulation of transcription from RNA polymerase II promoter in response to calcium ion; • GO:0009373 regulation of transcription, DNA-templated; • transcription, DNA-templated; • cellular response to potassium ion; • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II; • transcription by RNA polymerase II;
	Izvori:Amigo / QuickGO
Ortolozi
	79800
	241066
	ENSG00000138380
	ENSMUSG00000026017
	Q8N187
	Q8VHI4
NM_001104586; NM_001282910; NM_001282911; NM_001282912; NM_024744;
	NM_001322427; NM_001322428; NM_001322429; NM_001322430; NM_001352676; NM_001352677; NM_001352678; NM_001352679
	NM_001285463; NM_001285473; NM_139150
NP_001098056; NP_001269839; NP_001269840; NP_001269841; NP_001309356;
	NP_001309357; NP_001309358; NP_079020; NP_001339605; NP_001339606; NP_001339607; NP_001339608
	NP_001272392; NP_001272402; NP_631889
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Protein hromosomske regije kandidatskog gena 8 poznat i kao faktor kalcij-odgovora (CaRF) jest protein koji je kod ljudi kodiran genom ALS2CR8 sa hromosoma 2.^[5]^[6]

Amiokiselininska sekvenca[uredi | uredi izvor]

Dužina polipeptidnog lanca je 725 aminokiselina, a molekulska težina 80.698 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
MEQSNDSLRV	NHNDGEESKT	SAQVFEHLIC	MDSRDSSFGQ	NDSPTVLPIT
TREANNSLIS	QNIPGPLTQT	QTLSAEQFHL	VDQNGQAIQY	ELQSLGESNA
QMMIVASPTE	NGQVLRVIPP	TQTGMAQVII	PQGQLVDVNS	PRDVPEEKPS
NRNLPTVRVD	TLADNTSNYI	LHPQTSFPLP	KKSVTGMLEE	PLLGPLQPLS
SNTPIWACRL	RSCEKIGDSY	RGYCVSETEL	ESVLTFHKQQ	TQSVWGTRQS
PSPAKPATRL	MWKSQYVPYD	GIPFVNAGSR	AVVMECQYGP	RRKGFQLKKV
SEQESRSCQL	YKATCPARIY	IKKVQKFPEY	RVPTDPKIDK	KIIRMEQEKA
FNMLKKNLVD	AGGVLRWYVQ	LPTQQAHQYH	ELETPCLTLS	PSPFPVSSLE
EEETAVRDEN	CALPSRLHPQ	VAHKIQELVS	QGIEQVYAVR	KQLRKFVERE
LFKPDEVPER	HNLSFFPTVN	DIKNHIHEVQ	KSLRNGDTVY	NSEIIPATLQ
WTTDSGNILK	ETMTVTFAEG	NSPGESITTK	VETNQTRGSL	SPEPTHLLSS
LSSFQPKIFT	QLQGLQLQPR	YTSPDESPAV	VSVNNQPSSS	PSGLLDTIGS
AVMNNNSLLL	GQSHSLQRDT	CLTQNNSTAS	TMGNLPEPDQ	NLVAMDELVE
VGDVEDTGNL	EGTVHRILLG	DVQTIPIQII	DNHSALIEEN	PESTISVSQV
KQEPKEPALS	MEAKKTVDYK	KLSAT

Funkcija[uredi | uredi izvor]

Nokautirani gen Carf (Als2cr8) kod miševa dovodi do deficita povezanih s učenjem. Štaviše, pokazalo se da Carf funkcioniše kao transkripcijski faktor koji regulira ekspresiju BDNF.^[8]

Reference[uredi | uredi izvor]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000138380 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000026017 - 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.
^ Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, Brown RH Jr, Scherer SW, Rouleau GA, Hayden MR, Ikeda JE (Oct 2001). "A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2". Nat Genet. 29 (2): 166–73. doi:10.1038/ng1001-166. PMID 11586298. S2CID 52828189.
^ "Entrez Gene: ALS2CR8 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8".
^ "UniProt, Q8N187" (jezik: engleski). Pristupljeno 15. 11. 2021.
^ Tao X, West AE, Chen WG, Corfas G, Greenberg ME (januar 2002). "A calcium-responsive transcription factor, CaRF, that regulates neuronal activity-dependent expression of BDNF". Neuron. 33 (3): 383–95. doi:10.1016/S0896-6273(01)00561-X. PMID 11832226. S2CID 10874584.

Dopunska literatura[uredi | uredi izvor]

Maruyama K, Sugano S (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, et al. (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.
Tao X, West AE, Chen WG, et al. (2002). "A calcium-responsive transcription factor, CaRF, that regulates neuronal activity-dependent expression of BDNF". Neuron. 33 (3): 383–95. doi:10.1016/S0896-6273(01)00561-X. PMID 11832226. S2CID 10874584.
Hasan MK, Yaguchi T, Sugihara T, et al. (2002). "CARF is a novel protein that cooperates with mouse p19ARF (human p14ARF) in activating p53". J. Biol. Chem. 277 (40): 37765–70. doi:10.1074/jbc.M204177200. PMID 12154087.
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.
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.
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.
Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. doi:10.1038/nature03466. PMID 15815621.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
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.

Vanjski linkovi[uredi | uredi izvor]

Lokacija ljudskog genoma CARF i stranica sa detaljima o genu CARF u UCSC Genome Browseru.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000138380 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000026017 - 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.

[pmid11586298-5] Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, Brown RH Jr, Scherer SW, Rouleau GA, Hayden MR, Ikeda JE (Oct 2001). "A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2". Nat Genet. 29 (2): 166–73. doi:10.1038/ng1001-166. PMID 11586298. S2CID 52828189.

[entrez-6] "Entrez Gene: ALS2CR8 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8".

[UniProt-7] "UniProt, Q8N187" (jezik: engleski). Pristupljeno 15. 11. 2021.

[pmid11832226-8] Tao X, West AE, Chen WG, Corfas G, Greenberg ME (januar 2002). "A calcium-responsive transcription factor, CaRF, that regulates neuronal activity-dependent expression of BDNF". Neuron. 33 (3): 383–95. doi:10.1016/S0896-6273(01)00561-X. PMID 11832226. S2CID 10874584.

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