CECR1 (original) (raw)

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Protein-coding gene in the species Homo sapiens

ADA2
Available structuresPDBHuman UniProt search: PDBe RCSB List of PDB id codes3LGD, 3LGG
Identifiers
Aliases ADA2, ADGF, IDGFL, PAN, SNEDS, CECR1, cat eye syndrome chromosome region, candidate 1, adenosine deaminase 2, VAIHS
External IDs OMIM: 607575; HomoloGene: 81852; GeneCards: ADA2; OMA:ADA2 - orthologs
Gene location (Human)Chromosome 22 (human)Chr.Chromosome 22 (human)[1]Chromosome 22 (human)Genomic location for ADA2Genomic location for ADA2Band22q11.1Start17,178,790 bp[1]End17,258,235 bp[1]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inmonocytegranulocytebone marrow cellsright uterine tubespleenbloodlymph nodethymusspermgallbladdern/aMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular function deaminase activity zinc ion binding adenosine receptor binding adenosine deaminase activity heparin binding hydrolase activity protein homodimerization activity metal ion binding proteoglycan binding growth factor activity Cellular component extracellular region extracellular space azurophil granule lumen cytosol Biological process multicellular organism development neutrophil degranulation hypoxanthine salvage inosine biosynthetic process adenosine catabolic process regulation of signaling receptor activity signal transduction Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez51816n/aEnsemblENSG00000093072n/aUniProtQ9NZK5n/aRefSeq (mRNA)NM_001282225NM_001282226NM_001282227NM_001282228NM_001282229NM_017424NM_177405n/aRefSeq (protein)NP_001269154NP_001269155NP_001269156NP_001269157NP_001269158NP_803124n/aLocation (UCSC)Chr 22: 17.18 – 17.26 Mbn/aPubMed search[2]n/a
Wikidata
View/Edit Human

Cat eye syndrome critical region protein 1 is a protein that in humans is encoded by the CECR1 gene.[3][4]

This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein may act as a growth factor and have adenosine deaminase activity. It may be responsible for some of the phenotypic features associated with cat eye syndrome. Two transcript variants encoding distinct isoforms have been identified for this gene.[4]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000093072 – Ensembl, May 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 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. Archived from the original on 2010-12-05. Retrieved 2017-08-30.