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ALS2CR8

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ALS2CR8
Identifikatori
AliasiCARF
Vanjski ID-jeviOMIM: 607586 MGI: 2182269 HomoloGene: 11689 GeneCards: CARF
Lokacija gena (čovjek)
Hromosom 2 (čovjek)
Hrom.Hromosom 2 (čovjek)[1]
Hromosom 2 (čovjek)
Genomska lokacija za ALS2CR8
Genomska lokacija za ALS2CR8
Bend2q33.2Početak202,912,214 bp[1]
Kraj202,988,263 bp[1]
Lokacija gena (miš)
Hromosom 1 (miš)
Hrom.Hromosom 1 (miš)[2]
Hromosom 1 (miš)
Genomska lokacija za ALS2CR8
Genomska lokacija za ALS2CR8
Bend1|1 C2Početak60,098,247 bp[2]
Kraj60,153,953 bp[2]
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
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)
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

RefSeq (bjelančevina)
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

Lokacija (UCSC)Chr 2: 202.91 – 202.99 MbChr 1: 60.1 – 60.15 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/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

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Dužina polipeptidnog lanca je 725 aminokiselina, a molekulska težina 80.698 Da.[7].

1020304050
MEQSNDSLRVNHNDGEESKTSAQVFEHLICMDSRDSSFGQNDSPTVLPIT
TREANNSLISQNIPGPLTQTQTLSAEQFHLVDQNGQAIQYELQSLGESNA
QMMIVASPTENGQVLRVIPPTQTGMAQVIIPQGQLVDVNSPRDVPEEKPS
NRNLPTVRVDTLADNTSNYILHPQTSFPLPKKSVTGMLEEPLLGPLQPLS
SNTPIWACRLRSCEKIGDSYRGYCVSETELESVLTFHKQQTQSVWGTRQS
PSPAKPATRLMWKSQYVPYDGIPFVNAGSRAVVMECQYGPRRKGFQLKKV
SEQESRSCQLYKATCPARIYIKKVQKFPEYRVPTDPKIDKKIIRMEQEKA
FNMLKKNLVDAGGVLRWYVQLPTQQAHQYHELETPCLTLSPSPFPVSSLE
EEETAVRDENCALPSRLHPQVAHKIQELVSQGIEQVYAVRKQLRKFVERE
LFKPDEVPERHNLSFFPTVNDIKNHIHEVQKSLRNGDTVYNSEIIPATLQ
WTTDSGNILKETMTVTFAEGNSPGESITTKVETNQTRGSLSPEPTHLLSS
LSSFQPKIFTQLQGLQLQPRYTSPDESPAVVSVNNQPSSSPSGLLDTIGS
AVMNNNSLLLGQSHSLQRDTCLTQNNSTASTMGNLPEPDQNLVAMDELVE
VGDVEDTGNLEGTVHRILLGDVQTIPIQIIDNHSALIEENPESTISVSQV
KQEPKEPALSMEAKKTVDYKKLSAT

Funkcija

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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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000138380 - Ensembl, maj 2017
  2. ^ a b c 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.
  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.
  6. ^ "Entrez Gene: ALS2CR8 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8".
  7. ^ "UniProt, Q8N187" (jezik: engleski). Pristupljeno 15. 11. 2021.
  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.

Dopunska literatura

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Vanjski linkovi

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