CECR1

CECR1
Dostupne strukture
PDB	Pretraga Human UniProta: PDBe RCSB
Spisak PDB ID kodova
	3LGD, 3LGG
Identifikatori
Aliasi	ADA2
Vanjski ID-jevi	OMIM: 607575 HomoloGene: 81852 GeneCards: ADA2
Lokacija gena (čovjek)
Hrom.	Hromosom 22 (čovjek)
Kraj	17,258,235 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• deaminase activity; • vezivanje iona cinka; • adenosine receptor binding; • adenosine deaminase activity; • heparin binding; • hydrolase activity; • protein homodimerization activity; • vezivanje iona metala; • proteoglycan binding; • growth factor activity;
Ćelijska komponenta	• extracellular region; • Vanćelijsko; • azurophil granule lumen; • citosol;
Biološki proces	• multicellular organism development; • neutrophil degranulation; • hypoxanthine salvage; • inosine biosynthetic process; • adenosine catabolic process; • regulation of signaling receptor activity; • GO:0072468 Transdukcija signala;
	Izvori:Amigo / QuickGO
Ortolozi
	51816
	n/a
	ENSG00000093072
	n/a
	Q9NZK5
	n/a
NM_001282225; NM_001282226; NM_001282227; NM_001282228; NM_001282229;
	NM_017424; NM_177405
	n/a
NP_001269154; NP_001269155; NP_001269156; NP_001269157; NP_001269158;
	NP_803124
	n/a
	Wikipodaci
Pogledaj/uredi – čovjek

Protein 1 kritične regije sindroma mačijeg oka jest protein koji je kod ljudi kodiran genom CECR1 sa hromosoma 22.^[3]^[4]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 511 aminokiselina, a molekulska težina 58.934 Da.^[4]

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
MLVDGPSERP	ALCFLLLAVA	MSFFGSALSI	DETRAHLLLK	EKMMRLGGRL
VLNTKEELAN	ERLMTLKIAE	MKEAMRTLIF	PPSMHFFQAK	HLIERSQVFN
ILRMMPKGAA	LHLHDIGIVT	MDWLVRNVTY	RPHCHICFTP	RGIMQFRFAH
PTPRPSEKCS	KWILLEDYRK	RVQNVTEFDD	SLLRNFTLVT	QHPEVIYTNQ
NVVWSKFETI	FFTISGLIHY	APVFRDYVFR	SMQEFYEDNV	LYMEIRARLL
PVYELSGEHH	DEEWSVKTYQ	EVAQKFVETH	PEFIGIKIIY	SDHRSKDVAV
IAESIRMAMG	LRIKFPTVVA	GFDLVGHEDT	GHSLHDYKEA	LMIPAKDGVK
LPYFFHAGET	DWQGTSIDRN	ILDALMLNTT	RIGHGFALSK	HPAVRTYSWK
KDIPIEVCPI	SNQVLKLVSD	LRNHPVATLM	ATGHPMVISS	DDPAMFGAKG
LSYDFYEVFM	GIGGMKADLR	TLKQLAMNSI	KYSTLLESEK	NTFMEIWKKR
WDKFIADVAT	K

Funkcija

Ovaj gen kodira člana [[porodica protein a|porodice proteina]] iz potporodice adenozin-deaminaza. Kodirani protein može djelovati kao faktor rasta i imati aktivnost adenozin-deaminaza. Može biti odgovoran za neke od fenotipskih karakteristika povezanih sa sindromom mačijeg oka. Za ovaj gen su identificirane dvije varijante transkripta koje kodiraju različite izoforme.^[4]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000093072 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Riazi MA, Brinkman-Mills P, Nguyen T, Pan H, Phan S, Ying F, Roe BA, Tochigi J, Shimizu Y, Minoshima S, Shimizu N, Buchwald M, McDermid HE (May 2000). "The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome". Genomics. 64 (3): 277–85. doi:10.1006/geno.1999.6099. PMID 10756095.
^ ^a ^b ^c Hoppe, W.; Gassmann, J.; Hunsmann, N.; Schramm, H. J.; Sturm, M. (August 1975). "Comments on the paper "Relevance of three-dimensional reconstructions of stain distributions for structural analysis of biomolecules"". Hoppe-Seyler's Zeitschrift für Physiologische Chemie. 356 (8): 1317–1320. doi:10.1515/bchm2.1975.356.2.1317. ISSN 0018-4888. PMID 51816.

Dopunska literatura

Charlab R, Valenzuela JG, Andersen J, Ribeiro JM (2001). "The invertebrate growth factor/CECR1 subfamily of adenosine deaminase proteins". Gene. 267 (1): 13–22. doi:10.1016/S0378-1119(01)00393-6. PMID 11311551.
Footz TK, Brinkman-Mills P, Banting GS, et al. (2001). "Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere". Genome Res. 11 (6): 1053–70. doi:10.1101/gr.154901. PMC 311098. PMID 11381032.
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.
Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
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.
Zavialov AV, Engström A (2006). "Human ADA2 belongs to a new family of growth factors with adenosine deaminase activity". Biochem. J. 391 (Pt 1): 51–7. doi:10.1042/BJ20050683. PMC 1237138. PMID 15926889.
Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.

Vanjski linkovi

Lokacija ljudskog genoma CECR1 i stranica sa detaljima o genu CECR1 u UCSC Genome Browseru.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000093072 - Ensembl, maj 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10756095-3] Riazi MA, Brinkman-Mills P, Nguyen T, Pan H, Phan S, Ying F, Roe BA, Tochigi J, Shimizu Y, Minoshima S, Shimizu N, Buchwald M, McDermid HE (May 2000). "The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome". Genomics. 64 (3): 277–85. doi:10.1006/geno.1999.6099. PMID 10756095.

[entrez-4] Hoppe, W.; Gassmann, J.; Hunsmann, N.; Schramm, H. J.; Sturm, M. (August 1975). "Comments on the paper "Relevance of three-dimensional reconstructions of stain distributions for structural analysis of biomolecules"". Hoppe-Seyler's Zeitschrift für Physiologische Chemie. 356 (8): 1317–1320. doi:10.1515/bchm2.1975.356.2.1317. ISSN 0018-4888. PMID 51816.

[3]

[4]

[1]

[2]