Version 5.4
Homo sapiens Gene: CECR1
Summary
InnateDB Gene IDBG-933.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CECR1
Gene Name cat eye syndrome chromosome region, candidate 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000093072
Encoded Proteins
IDBP-935
cat eye syndrome chromosome region, candidate 1
IDBP-937
cat eye syndrome chromosome region, candidate 1
IDBP-229664
cat eye syndrome chromosome region, candidate 1
IDBP-229666
cat eye syndrome chromosome region, candidate 1
IDBP-360950
cat eye syndrome chromosome region, candidate 1
IDBP-360952
cat eye syndrome chromosome region, candidate 1
IDBP-591637
cat eye syndrome chromosome region, candidate 1
IDBP-812347
cat eye syndrome chromosome region, candidate 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 22:17178790-17221989
Strand Reverse strand
Band q11.1
Transcripts
ENST00000330232 ENSP00000332871
ENST00000262607 ENSP00000262607
ENST00000399839 ENSP00000382733
ENST00000399837 ENSP00000382731
ENST00000449907 ENSP00000406443
ENST00000441548 ENSP00000392078
ENST00000469063
ENST00000480276
ENST00000543038 ENSP00000442482
ENST00000610390 ENSP00000483418
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004000 adenosine deaminase activity
GO:0008083 growth factor activity
GO:0008201 heparin binding
GO:0008270 zinc ion binding
GO:0019239 deaminase activity
GO:0031685 adenosine receptor binding
GO:0042803 protein homodimerization activity
GO:0043394 proteoglycan binding
Biological Process
GO:0006154 adenosine catabolic process
GO:0007275 multicellular organismal development
GO:0008152 metabolic process
GO:0043103 hypoxanthine salvage
GO:0046103 inosine biosynthetic process
Cellular Component
GO:0005615 extracellular space
Orthologs
No orthologs found for this gene
Cross-References
SwissProt Q9NZK5
TrEMBL B4DHM2 B4E3Q4 C9IZA8 F5H7J3
UniProt Splice Variant
Entrez Gene 51816
UniGene Hs.170310 Hs.604611 Hs.619053
RefSeq NM_001282225 NM_001282226 NM_001282227 NM_001282228 NM_001282229 NM_177405
HUGO HGNC:1839
OMIM 607575
CCDS CCDS13742 CCDS13743 CCDS63395 CCDS74809
HPRD 10462
IMGT
EMBL AC005300 AC005399 AF190746 AK027682 AK074702 AK292689 AK295174 AK304818 BC051755 CH471193 CR456417
GenPept AAF65941 AAH51755 BAB55293 BAC11148 BAF85378 BAG58184 BAG65566 CAG30303 EAW57750
RNA Seq Atlas 51816

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca