FRA10AC1

FRA10AC1
Identifikatori
Aliasi	FRA10AC1
Vanjski ID-jevi	OMIM: 608866 MGI: 1917817 HomoloGene: 13852 GeneCards: FRA10AC1
Lokacija gena (čovjek)
Hrom.	Hromosom 10 (čovjek)
Kraj	93,702,592 bp
Lokacija gena (miš)
Hrom.	Hromosom 19 (miš)
Kraj	38,212,604 bp
Ortolozi
	118924
	70567
	ENSG00000148690
	ENSMUSG00000054237
	Q70Z53
	Q8BP78
NM_145246; NM_203438; NM_203439; NM_203440; NM_203441;
	NM_001347712; NM_001347713; NM_001347714; NM_001347715
	NM_001081075; NM_027466
	NP_001334641; NP_001334642; NP_001334643; NP_001334644; NP_660289
	NP_001074544; NP_081742
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

FRA10AC1 je protein koji je kod ljudi kodiran genom FRA10AC1.^[5]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 315 aminokiselina, а molekulska težina 37.548 Da.^[6]

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
MHGHGGYDSD	FSDDERCGES	SKRKKRTVED	DLLLQKPFQK	EKHGKVAHKQ
VAAELLDREE	ARNRRFHLIA	MDAYQRHTKF	VNDYILYYGG	KKEDFKRLGE
NDKTDLDVIR	ENHRFLWNEE	DEMDMTWEKR	LAKKYYDKLF	KEYCIADLSK
YKENKFGFRW	RVEKEVISGK	GQFFCGNKYC	DKKEGLKSWE	VNFGYIEHGE
KRNALVKLRL	CQECSIKLNF	HHRRKEIKSK	KRKDKTKKDC	EESSHKKSRL
SSAEEASKKK	DKGHSSSKKS	EDSLLRNSDE	EESASESELW	KGPLPETDEK
SQEEEFDEYF	QDLFL

Funkcija

Protein kodiran ovim genom je jedarni fosfoprotein nepoznate funkcije. 5' UTR ovog gena je dio CpG-otoka i sadrži tandemsku regiju ponavljanja CGG-a koja se obično sastoji od 8-14 ponavljanja, ali se može proširiti na preko 200 ponavljanja. Prošireni alel postaje hipermetiliran i ne prepisuje se; međutim, proširena regija ponavljanja nije povezana s bilo kojim fenotipom bolesti. Ovaj gen se nalazi unutar rijetkog fragilnog mjesta osjetljivog na folate FRA10A^[5]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000148690 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000054237 - 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.
^ ^a ^b "Entrez Gene: C10orf4 chromosome 10 open reading frame 4".
^ "UniProt, Q70Z53". Pristupljeno 2. 9. 2021.

Dopunska literatura

Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.
Sarafidou T, Kahl C, Martinez-Garay I, et al. (2005). "Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein". Genomics. 84 (1): 69–81. doi:10.1016/j.ygeno.2003.12.017. PMID 15203205.
Yu Y, Zhang C, Zhou G, et al. (2001). "Gene expression profiling in human fetal liver and identification of tissue- and developmental-stage-specific genes through compiled expression profiles and efficient cloning of full-length cDNAs". Genome Res. 11 (8): 1392–403. doi:10.1101/gr.175501. PMC 311073. PMID 11483580.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000148690 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000054237 - 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.

[entrez-5] "Entrez Gene: C10orf4 chromosome 10 open reading frame 4".

[UniProt-6] "UniProt, Q70Z53". Pristupljeno 2. 9. 2021.

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