CECR1

CECR1
Dostupne strukture
PDBPretraga Human UniProta: PDBe RCSB
Spisak PDB ID kodova

3LGD, 3LGG

Identifikatori
AliasiADA2
Vanjski ID-jeviOMIM: 607575 HomoloGene: 81852 GeneCards: ADA2
Lokacija gena (čovjek)
Hromosom 22 (čovjek)
Hrom.Hromosom 22 (čovjek)[1]
Hromosom 22 (čovjek)
Genomska lokacija za CECR1
Genomska lokacija za CECR1
Bend22q11.1Početak17,178,790 bp[1]
Kraj17,258,235 bp[1]
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
VrsteČovjekMiš
Entrez

51816

n/a

Ensembl

ENSG00000093072

n/a

UniProt

Q9NZK5

n/a

RefSeq (mRNK)
NM_001282225
NM_001282226
NM_001282227
NM_001282228
NM_001282229

NM_017424
NM_177405

n/a

RefSeq (bjelančevina)
NP_001269154
NP_001269155
NP_001269156
NP_001269157
NP_001269158

NP_803124

n/a

Lokacija (UCSC)Chr 22: 17.18 – 17.26 Mbn/a
PubMed pretraga[2]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]

1020304050
MLVDGPSERPALCFLLLAVAMSFFGSALSIDETRAHLLLKEKMMRLGGRL
VLNTKEELANERLMTLKIAEMKEAMRTLIFPPSMHFFQAKHLIERSQVFN
ILRMMPKGAALHLHDIGIVTMDWLVRNVTYRPHCHICFTPRGIMQFRFAH
PTPRPSEKCSKWILLEDYRKRVQNVTEFDDSLLRNFTLVTQHPEVIYTNQ
NVVWSKFETIFFTISGLIHYAPVFRDYVFRSMQEFYEDNVLYMEIRARLL
PVYELSGEHHDEEWSVKTYQEVAQKFVETHPEFIGIKIIYSDHRSKDVAV
IAESIRMAMGLRIKFPTVVAGFDLVGHEDTGHSLHDYKEALMIPAKDGVK
LPYFFHAGETDWQGTSIDRNILDALMLNTTRIGHGFALSKHPAVRTYSWK
KDIPIEVCPISNQVLKLVSDLRNHPVATLMATGHPMVISSDDPAMFGAKG
LSYDFYEVFMGIGGMKADLRTLKQLAMNSIKYSTLLESEKNTFMEIWKKR
WDKFIADVATK

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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000093072 - Ensembl, maj 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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.
  4. ^ 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.

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