FRA10AC1

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

FRA10AC1
Identifikatori
Aliasi	FRA10AC1
Vanjski ID-jevi	OMIM: 608866 MGI: 1917817 HomoloGene: 13852 GeneCards: FRA10AC1
Lokacija gena (čovjek) Hrom. Hromosom 10 (čovjek)[1] Bend 10q23.33 Početak 93,667,883 bp[1] Kraj 93,702,592 bp[1]
Lokacija gena (miš) Hrom. Hromosom 19 (miš)[2] Bend 19|19 C2 Početak 38,176,929 bp[2] Kraj 38,212,604 bp[2]
Ortolozi
Vrste	Čovjek	Miš
Entrez	118924	70567
Ensembl	ENSG00000148690	ENSMUSG00000054237
UniProt	Q70Z53	Q8BP78
RefSeq (mRNK)	NM_145246 NM_203438 NM_203439 NM_203440 NM_203441 NM_001347712 NM_001347713 NM_001347714 NM_001347715	NM_001081075 NM_027466
RefSeq (bjelančevina)	NP_001334641 NP_001334642 NP_001334643 NP_001334644 NP_660289	NP_001074544 NP_081742
Lokacija (UCSC)	Chr 10: 93.67 – 93.7 Mb	Chr 19: 38.18 – 38.21 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

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

1. GRCh38: Ensembl release 89: ENSG00000148690 - Ensembl, maj 2017
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.
5. "Entrez Gene: C10orf4 chromosome 10 open reading frame 4".
6. "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.