Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CECR1 (cat eye syndrome chromosome region, candidate 1)

Identity

Other namesADA2
ADGF
IDGFL
HGNC (Hugo) CECR1
LocusID (NCBI) 51816
Location 22q11.1
Location_base_pair Starts at 17660194 and ends at 17690779 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)CECR1   1839
Entrez_Gene (NCBI)CECR1  51816  cat eye syndrome chromosome region, candidate 1
Cards
GeneCards (Weizmann)CECR1
Ensembl (Hinxton)ENSG00000093072 [Gene_View]  chr22:17660194-17690779 [Contig_View]  CECR1 [Vega]
AceView (NCBI)CECR1
Genatlas (Paris)CECR1
SOURCE (Stanford)NM_017424 NM_177405
Genomic and cartography
GoldenPath (UCSC)CECR1  -  22q11.1   chr22:17660194-17690779 -  22q11.1   [Description]    (hg19-Feb_2009)
EnsemblCECR1 - 22q11.1 [CytoView]
Mapping of homologs : NCBICECR1 [Mapview]
OMIM607575   
Gene and transcription
Genbank (Entrez)AB209648 AF190746 AK027682 AK074702 AK130725
RefSeq transcript (SRS)NM_017424 NM_177405
RefSeq transcript (Entrez)NM_017424 NM_177405
RefSeq genomic (SRS)AC_000154 NC_000022 NC_018933 NT_011519 NW_001838735 NW_004078111
RefSeq genomic (Entrez)AC_000154 NC_000022 NC_018933 NT_011519 NW_001838735 NW_004078111
Consensus coding sequences : CCDS (NCBI)CECR1
Cluster EST : UnigeneHs.170310 [ SRS ] Hs.170310 [ NCBI ]
CGAP (NCI)Hs.170310
Alternative Splicing : Fast-db (Paris)GSHG0020162
Alternative Splicing GalleryENSG00000093072
Gene ExpressionCECR1 [ NCBI-GEO ]   CECR1 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NZK5 (SRS) Q9NZK5 (Uniprot)
NextProtQ9NZK5
With graphics : InterProQ9NZK5
Splice isoforms : SwissVarQ9NZK5(Swissvar)
Domaine pattern : Prosite (SRS)A_DEAMINASE (PS00485)   
Domaine pattern : Prosite (Expaxy)A_DEAMINASE (PS00485)   
Domains : Interpro (SRS)A/AMP_deaminase_dom    A_deaminase_N    Ad_deam-like   
Domains : Interpro (EBI)A/AMP_deaminase_dom    A_deaminase_N    Ad_deam-like   
Related proteins : CluSTrQ9NZK5
Domain families : Pfam (SRS)A_deaminase (PF00962)    A_deaminase_N (PF08451)   
Domain families : Pfam (Sanger)A_deaminase (PF00962)    A_deaminase_N (PF08451)   
Domain families : Pfam (NCBI)pfam00962    pfam08451   
DMDM51816
Blocks (Seattle)Q9NZK5
PDB (SRS)3LGD    3LGG   
PDB (PDBSum)3LGD    3LGG   
PDB (IMB)3LGD    3LGG   
PDB (RSDB)3LGD    3LGG   
Human Protein AtlasENSG00000093072
HPRD10462
IPIIPI00303071   IPI00252768   IPI01011521   IPI00748521   IPI01012646   IPI00852630   IPI00917635   
Protein Interaction databases
DIP (DOE-UCLA)Q9NZK5
IntAct (EBI)Q9NZK5
FunCoupENSG00000093072
REACTOMECECR1
Protein Interaction Database51816
BioGRIDCECR1
InParanoidQ9NZK5
Interologous Interaction database Q9NZK5
IntegromeDBCECR1
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CECR1
SNP (GeneSNP Utah)CECR1
SNP : HGBaseCECR1
Genetic variants : HAPMAPCECR1
Somatic Mutations in Cancer : COSMICCECR1 
CONAN: Copy Number AnalysisCECR1 
Mutations and Diseases : HGMDCECR1
OMIM607575   
GENETests607575   
Disease Genetic AssociationCECR1
Huge Navigator CECR1 [HugePedia]  CECR1 [HugeCancerGEM]
Genomic VariantsCECR1  CECR1 [DGVbeta]
ClinVarCECR1
snp3D : Map Gene to Disease51816
General knowledge
Homologs : HomoloGeneCECR1
Homology/Alignments : Family Browser (UCSC)CECR1
Phylogenetic Trees/Animal Genes : TreeFamCECR1
Catalytic activity : Enzyme3.5.4.4 [ Enzyme-Expasy ]   3.5.4.4 [ Enzyme-SRS ]   3.5.4.4 [ IntEnz-EBI ]   3.5.4.4 [ BRENDA ]   3.5.4.4 [ KEGG ]   
Chemical/Protein Interactions : CTD51816
Chemical/Pharm GKB GenePA26382
Clinical trialCECR1
Cancer Resource (Charite)ENSG00000093072
Ontology : AmiGOadenosine deaminase activity  extracellular space  Golgi apparatus  cytosol  adenosine catabolic process  multicellular organismal development  growth factor activity  growth factor activity  heparin binding  zinc ion binding  purine ribonucleoside monophosphate biosynthetic process  adenosine receptor binding  protein homodimerization activity  hypoxanthine salvage  proteoglycan binding  inosine biosynthetic process  
Ontology : EGO-EBIadenosine deaminase activity  extracellular space  Golgi apparatus  cytosol  adenosine catabolic process  multicellular organismal development  growth factor activity  growth factor activity  heparin binding  zinc ion binding  purine ribonucleoside monophosphate biosynthetic process  adenosine receptor binding  protein homodimerization activity  hypoxanthine salvage  proteoglycan binding  inosine biosynthetic process  
Other databases
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
PubGeneCECR1
iHOPCECR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 14 17:49:40 CEST 2013
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