CYYR1

CYYR1
Identifikatori
Aliasi	CYYR1
Vanjski ID-jevi	OMIM: 616020 MGI: 2152187 HomoloGene: 14191 GeneCards: CYYR1
Lokacija gena (čovjek)
Hrom.	Hromosom 21 (čovjek)
Kraj	26,573,286 bp
Lokacija gena (miš)
Hrom.	Hromosom 16 (miš)
Kraj	85,350,285 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• molekularna funkcija;
Ćelijska komponenta	• integral component of membrane; • membrana;
Biološki proces	• GO:0022610 biološki proces;
	Izvori:Amigo / QuickGO
Ortolozi
	116159
	224405
	ENSG00000166265
	ENSMUSG00000041134
	Q96J86
	Q8VIH7
	NM_052954; NM_001320768
	NM_144853
	NP_001307697; NP_443186
	NP_659102
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Cisteinom i tirozinom bogati protein 1 jest protein koji je kod ljudi kodiran genom CYYR1 sa hromosoma 21, lokus 21q21.2. Ovaj protein ima funkciju koja još nije dovoljno shvaćena.^[5]^[6]^[7]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 154 aminokiseline, a molekulska težina 16.626 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
MDAPRLPVRP	GVLLPKLVLL	FVYADDCLAQ	CGKDCKSYCC	DGTTPYCCSY
YAYIGNILSG	TAIAGIVFGI	VFIMGVIAGI	AICICMCMKN	HRATRVGILR
TTHINTVSSY	PGPPPYGHDH	EMEYCADLPP	PYSPTPQGPA	QRSPPPPYPG
NARK

Struktura

Proizvod gena je jednoprolazni tip 1 transmembranskog proteina sa četiri egzona i vrlo velikim intronom od 85,8 kb i kodira protein koji sadrži 154 aminokiseline.^[8] Najistaknutije obilježje identificirano u proteinu je centralni, jedinstveni cisteinom i tirozinom bogati proteinski domen, na dijelu proteina koji se nalazi unutar ćelije. Utvrđeno je da je ovaj domen jako konzerviran kod nižih kičmenjaka (riba) do ljudi, ali ga nema kod bakterija i beskičmenjaka.^[6]

Svojstva i domeni

Bioinformatička analiza predvidjela je sljedeća svojstva za CYYR1:

Molekulaska težina = 16,6 kdal
Izoelektrična tačka = 8,28

Aminokiselinska sekvenca duga je 153 aminokiseline i sadrži tri domea.^[9]

1 MDAPRLPVRP GVLLPKLVLL FVYADDCLAQ CGKDCKSYCC DGTTPYCCSY
51 YAYIGNILSG TAIAGIVFGI VFIMGVIAGI AICICMCMKN HRATRVGILR
101 TTHINTVSSY PGPPPYGHDH EMEYCDLPPP YSPTPQGPAQ RSPPPPYPGN
151 ARK

Korištenjem bioinformatičkih alata utvrđeni su sljedeći domeni:

Signalni peptid^[8] – Položaj 1–29
Transmembranski domen^[8] – Položaj 62–82
Poli-prolinski domen^[8] – Položaj 144–149

Ortolozi

Višestruka poravnavanja sekvenci urađena su sa ortolozima gena CYYR1 i pokazuju da je proteinska sekvenca visoko konzervirana kod svih kičmenjaka.

Rod i vrsta	Pristupni broj	Identiitet skvence
Pan troglodytes	XP_001158941.1	99,2%^[10]
Macaca mulatta	XP_001104127.1	95,5%^[10]
Mus musculus	NP_659102.1	88,2%^[10]
Xenopus laevis	NP_001088967.1	74,3%^[10]
Danio rerio	NP_998047.1	60,4%^[10]

U Homo sapiens nema poznatih ili predviđenih paraloga.

Interakcije

Pokazalo se da CYYR1 povećava nivo glutationa (GSH) u ćelijama kvasca kada nadopunjuje defekt u preuzimanju GSH u ćelijama kvasca kojima nedostaje Hgt1p, primarni transporter GSH kvasaca.^[11] Međutim, gen CYYR1 nije prirodno pronađen u kvascu, tako da je funkcija CYYR1 još uvijek nepoznata.

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000166265 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000041134 - 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.
^ Reymond A, Camargo AA, Deutsch S, Stevenson BJ, Parmigiani RB, Ucla C, Bettoni F, Rossier C, Lyle R, Guipponi M, de Souza S, Iseli C, Jongeneel CV, Bucher P, Simpson AJ, Antonarakis SE (May 2002). "Nineteen additional unpredicted transcripts from human chromosome 21". Genomics. 79 (6): 824–32. doi:10.1006/geno.2002.6781. PMID 12036297.
^ ^a ^b Vitale L, Casadei R, Canaider S, Lenzi L, Strippoli P, D'Addabbo P, Giannone S, Carinci P, Zannotti M (Jun 2002). "Cysteine and tyrosine-rich 1 (CYYR1), a novel unpredicted gene on human chromosome 21 (21q21.2), encodes a cysteine and tyrosine-rich protein and defines a new family of highly conserved vertebrate-specific genes". Gene. 290 (1–2): 141–51. doi:10.1016/S0378-1119(02)00550-4. PMID 12062809.
^ ^a ^b "Entrez Gene: CYYR1 cysteine/tyrosine-rich 1".
^ ^a ^b ^c ^d "Cysteine and tyrosine-rich protein 1 precursor - Homo sapiens".
^ SDSC Biology Workbench 2.0
^ ^a ^b ^c ^d ^e "Cysteine/tyrosine-rich 1 - Homo sapiens".
^ Shi S, Notenboom S, Dumont ME, Ballatori N (Jan 2010). "Identification of Human Gene Products Containing Pro-Pro-x-Tyr (PY) Motifs that Enhance Glutathione and Endocytotic Marker Uptake in Yeast". Cell Physiol Biochem. 25 (2–3): 293–306. doi:10.1159/000276570. PMC 3030462. PMID 20110690.

Dopunska literatura

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.
Hattori M, Fujiyama A, Taylor TD, et al. (2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311–9. Bibcode:2000Natur.405..311H. doi:10.1038/35012518. PMID 10830953.
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.
Vitale L, Frabetti F, Huntsman SA, et al. (2007). "Sequence, "subtle" alternative splicing and expression of the CYYR1 (cysteine/tyrosine-rich 1) mRNA in human neuroendocrine tumors". BMC Cancer. 7: 66. doi:10.1186/1471-2407-7-66. PMC 1863428. PMID 17442112.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000166265 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000041134 - 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.

[pmid12036297-5] Reymond A, Camargo AA, Deutsch S, Stevenson BJ, Parmigiani RB, Ucla C, Bettoni F, Rossier C, Lyle R, Guipponi M, de Souza S, Iseli C, Jongeneel CV, Bucher P, Simpson AJ, Antonarakis SE (May 2002). "Nineteen additional unpredicted transcripts from human chromosome 21". Genomics. 79 (6): 824–32. doi:10.1006/geno.2002.6781. PMID 12036297.

[pmid12062809-6] Vitale L, Casadei R, Canaider S, Lenzi L, Strippoli P, D'Addabbo P, Giannone S, Carinci P, Zannotti M (Jun 2002). "Cysteine and tyrosine-rich 1 (CYYR1), a novel unpredicted gene on human chromosome 21 (21q21.2), encodes a cysteine and tyrosine-rich protein and defines a new family of highly conserved vertebrate-specific genes". Gene. 290 (1–2): 141–51. doi:10.1016/S0378-1119(02)00550-4. PMID 12062809.

[entrez-7] "Entrez Gene: CYYR1 cysteine/tyrosine-rich 1".

[uniprot-8] "Cysteine and tyrosine-rich protein 1 precursor - Homo sapiens".

[Biology_Workbench-9] SDSC Biology Workbench 2.0

[unigene-10] "Cysteine/tyrosine-rich 1 - Homo sapiens".

[PMID:20110690-11] Shi S, Notenboom S, Dumont ME, Ballatori N (Jan 2010). "Identification of Human Gene Products Containing Pro-Pro-x-Tyr (PY) Motifs that Enhance Glutathione and Endocytotic Marker Uptake in Yeast". Cell Physiol Biochem. 25 (2–3): 293–306. doi:10.1159/000276570. PMC 3030462. PMID 20110690.

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