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Aliases for CECR1 Gene

Aliases for CECR1 Gene

  • Cat Eye Syndrome Chromosome Region, Candidate 1 2 3 5
  • Cat Eye Syndrome Critical Region Protein 1 3 4
  • IDGFL 3 4
  • ADA2 3 4
  • ADGF 3 4
  • Adenosine Deaminase CECR1 3
  • Adenosine Deaminase 2 3
  • EC 3.5.4.4 4
  • SNEDS 3
  • PAN 3

External Ids for CECR1 Gene

Previous HGNC Symbols for CECR1 Gene

  • IDGFL

Previous GeneCards Identifiers for CECR1 Gene

  • GC22M014604
  • GC22M016034
  • GC22M017660
  • GC22M001478

Summaries for CECR1 Gene

Entrez Gene Summary for CECR1 Gene

  • This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

GeneCards Summary for CECR1 Gene

CECR1 (Cat Eye Syndrome Chromosome Region, Candidate 1) is a Protein Coding gene. Diseases associated with CECR1 include Sneddon Syndrome and Polyarteritis Nodosa, Childhood-Onset. Among its related pathways are Immune System and Surfactant metabolism. GO annotations related to this gene include protein homodimerization activity and heparin binding.

UniProtKB/Swiss-Prot for CECR1 Gene

  • Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation and differentiation, independently of its enzyme activity.

Gene Wiki entry for CECR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CECR1 Gene

Genomics for CECR1 Gene

Regulatory Elements for CECR1 Gene

Enhancers for CECR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F017198 0.7 ENCODE 76.7 +22.7 22685 2.5 BRD4 RFX1 MAX ZNF384 ZFHX2 JUND SMARCA4 POLR2A ZNF341 KDM1A CECR1 CECR3 CECR2 CECR6 LINC01664 GC22P017193 GC22M017211
GH22F017228 1.1 FANTOM5 Ensembl 11.6 -6.8 -6819 0.8 CEBPG ZNF644 RAD21 ZNF7 YY1 ZKSCAN1 ZSCAN29 TFE3 FOXA3 CEBPB CECR1 IL17RA BCL2L13 CECR3
GH22F017216 1.1 FANTOM5 ENCODE 11.2 +3.0 2970 5.7 PKNOX1 ZSCAN18 TEAD4 CEBPG EBF1 ZBTB40 RELA ZNF664 ZNF121 POLR2A CECR3 CECR2 CECR1 ATP6V1E1 BCL2L13 IL17RA GC22P017216
GH22F017074 1.1 Ensembl ENCODE 10.4 +146.3 146288 1.8 CTCF KLF17 ZNF384 RAD21 HIC1 ZFHX2 ZNF316 SCRT2 SMC3 NFE2 CECR7 CECR6 LINC01664 CECR1 CECR3 ENSG00000273203 ENSG00000273442
GH22F017470 0.9 Ensembl ENCODE 11 -250.2 -250182 2.9 PKNOX1 ZNF362 NFYC SP2 ZIC2 RAD21 THRB YY1 TEAD3 OSR2 CECR2 CECR3 CECR1 CECR6 LINC01664 CLCP1 GC22M017518
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CECR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CECR1 Gene

Chromosome:
22
Start:
17,178,790 bp from pter
End:
17,221,989 bp from pter
Size:
43,200 bases
Orientation:
Minus strand

Genomic View for CECR1 Gene

Genes around CECR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CECR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CECR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CECR1 Gene

Proteins for CECR1 Gene

  • Protein details for CECR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZK5-CECR1_HUMAN
    Recommended name:
    Adenosine deaminase CECR1
    Protein Accession:
    Q9NZK5
    Secondary Accessions:
    • A8K9H4
    • Q6ICF1
    • Q86UB6
    • Q8NCJ2
    • Q96K41

    Protein attributes for CECR1 Gene

    Size:
    511 amino acids
    Molecular mass:
    58934 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer. Interacts with adenosine receptors. Binds heparin.
    Miscellaneous:
    • Candidate gene for the Cat Eye Syndrome (CES), a developmental disorder associated with the duplication of a 2 Mb region of 22q11.2. Duplication usually takes in the form of a surpernumerary bisatellited isodicentric chromosome, resulting in four copies of the region (represents an inv dup(22)(q11)). CES is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development.

    Three dimensional structures from OCA and Proteopedia for CECR1 Gene

    Alternative splice isoforms for CECR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CECR1 Gene

Post-translational modifications for CECR1 Gene

  • Ubiquitination at Lys 55 and Lys 296
  • Glycosylation at Asn 127, Asn 174, Asn 185, and Asn 378
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for CECR1
  • Cloud-Clone Corp. Antibodies for CECR1

No data available for DME Specific Peptides for CECR1 Gene

Domains & Families for CECR1 Gene

Gene Families for CECR1 Gene

Suggested Antigen Peptide Sequences for CECR1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NZK5

UniProtKB/Swiss-Prot:

CECR1_HUMAN :
  • The PRB domain is involved in receptor binding, and may be responsible for the cytokine-like growth factor activity due to its sharing of several structural properties with chemokines.
  • Belongs to the adenosine and AMP deaminases family. ADGF subfamily.
Domain:
  • The PRB domain is involved in receptor binding, and may be responsible for the cytokine-like growth factor activity due to its sharing of several structural properties with chemokines.
  • High-affinity binding to heparin/glycosaminoclycan (GAG) is mediated by a large, highly positively charged surface at the interface of dimers subunits involving approximately residues 30-45, 389-396, and 422-428.
Family:
  • Belongs to the adenosine and AMP deaminases family. ADGF subfamily.
genes like me logo Genes that share domains with CECR1: view

Function for CECR1 Gene

Molecular function for CECR1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=2.25 mM for adenosine {ECO:0000269 PubMed:15926889}; pH dependence: Optimum pH is 6.6. {ECO:0000269 PubMed:15926889};
UniProtKB/Swiss-Prot CatalyticActivity:
Adenosine + H(2)O = inosine + NH(3).
UniProtKB/Swiss-Prot Function:
Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation and differentiation, independently of its enzyme activity.

Enzyme Numbers (IUBMB) for CECR1 Gene

Gene Ontology (GO) - Molecular Function for CECR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004000 adenosine deaminase activity TAS --
GO:0008083 growth factor activity NAS 10756095
GO:0008201 heparin binding IEA --
GO:0008270 zinc ion binding IDA 20147294
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with CECR1: view
genes like me logo Genes that share phenotypes with CECR1: view

Human Phenotype Ontology for CECR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for CECR1 Gene

Localization for CECR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CECR1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CECR1 gene
Compartment Confidence
extracellular 5
lysosome 5
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CECR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 20147294
GO:0005829 NOT cytosol IBA --
genes like me logo Genes that share ontologies with CECR1: view

Pathways & Interactions for CECR1 Gene

genes like me logo Genes that share pathways with CECR1: view

Pathways by source for CECR1 Gene

Interacting Proteins for CECR1 Gene

Gene Ontology (GO) - Biological Process for CECR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006154 adenosine catabolic process IDA 20147294
GO:0007275 multicellular organism development NAS 10756095
GO:0043103 hypoxanthine salvage IBA --
GO:0044267 cellular protein metabolic process TAS --
GO:0046103 inosine biosynthetic process IBA --
genes like me logo Genes that share ontologies with CECR1: view

No data available for SIGNOR curated interactions for CECR1 Gene

Drugs & Compounds for CECR1 Gene

(3) Drugs for CECR1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine Approved, Investigational Pharma Agonist 397
Water Approved Pharma 0
Inosine Investigational Pharma 0

(1) Additional Compounds for CECR1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ammonia
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
7664-41-7
genes like me logo Genes that share compounds with CECR1: view

Transcripts for CECR1 Gene

Unigene Clusters for CECR1 Gene

Cat eye syndrome chromosome region, candidate 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CECR1 Gene

No ASD Table

Relevant External Links for CECR1 Gene

GeneLoc Exon Structure for
CECR1
ECgene alternative splicing isoforms for
CECR1

Expression for CECR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CECR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CECR1 Gene

This gene is overexpressed in Whole Blood (x7.9) and Spleen (x5.4).

Protein differential expression in normal tissues from HIPED for CECR1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (25.2), Spleen (11.0), NK cells (7.0), and Monocytes (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CECR1 Gene



NURSA nuclear receptor signaling pathways regulating expression of CECR1 Gene:

CECR1

SOURCE GeneReport for Unigene cluster for CECR1 Gene:

Hs.170310

mRNA Expression by UniProt/SwissProt for CECR1 Gene:

Q9NZK5-CECR1_HUMAN
Tissue specificity: Detected in blood plasma (at protein level). Widely expressed, with most abundant expression in human adult heart, lung, lymphoblasts, and placenta as well as fetal lung, liver, and kidney. In embryo, expressed in the outflow tract and atrium of the developing heart, the VII/VIII cranial nerve ganglion, and the notochord.
genes like me logo Genes that share expression patterns with CECR1: view

Primer Products

No data available for Protein tissue co-expression partners for CECR1 Gene

Orthologs for CECR1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CECR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CECR1 34 35
  • 99.28 (n)
dog
(Canis familiaris)
Mammalia CECR1 34 35
  • 81.04 (n)
cow
(Bos Taurus)
Mammalia CECR1 35
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CECR1 35
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CECR1 35
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves CECR1 34 35
  • 66.59 (n)
lizard
(Anolis carolinensis)
Reptilia CECR1 35
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cecr1 34
  • 66.38 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9687 34
zebrafish
(Danio rerio)
Actinopterygii cecr1a 34 35
  • 57.91 (n)
cecr1b 35
  • 46 (a)
OneToMany
cecr1 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12034 34
fruit fly
(Drosophila melanogaster)
Insecta Adgf-D 36 34 35
  • 51.65 (n)
Adgf-A 36 35
  • 41 (a)
Adgf-B 36 35
  • 39 (a)
Adgf-C 36 35
  • 38 (a)
Adgf-E 36 35
  • 38 (a)
Msi 36 35
  • 32 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005283 34
  • 48.1 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04642 34
  • 45.76 (n)
Species where no ortholog for CECR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CECR1 Gene

ENSEMBL:
Gene Tree for CECR1 (if available)
TreeFam:
Gene Tree for CECR1 (if available)

Paralogs for CECR1 Gene

No data available for Paralogs for CECR1 Gene

Variants for CECR1 Gene

Sequence variations from dbSNP and Humsavar for CECR1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs148936893 Polyarteritis nodosa (PAN) [MIM:615688], Pathogenic 17,203,564(+) TCACC(A/G)GCAGC reference, missense, utr-variant-5-prime
rs200930463 Polyarteritis nodosa (PAN) [MIM:615688], Pathogenic 17,209,538(+) GCCCC(A/C/G)CCAGC intron-variant, upstream-variant-2KB, reference, missense
rs202134424 Polyarteritis nodosa (PAN) [MIM:615688], Pathogenic 17,209,539(+) CCCCC(A/C/G/T)CAGCC intron-variant, upstream-variant-2KB, reference, missense
rs376785840 Polyarteritis nodosa (PAN) [MIM:615688], Pathogenic 17,181,904(+) AATCA(C/T)AGGAC reference, missense
rs587777240 Polyarteritis nodosa (PAN) [MIM:615688], Pathogenic 17,207,287(+) AGGCA(G/T)CCCCT reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for CECR1 Gene

Variant ID Type Subtype PubMed ID
nsv979629 CNV duplication 23825009
nsv528777 CNV loss 19592680
nsv520588 CNV loss 19592680
nsv519933 CNV loss 19592680
nsv509805 CNV insertion 20534489
nsv191400 CNV deletion 16902084
nsv191229 CNV deletion 16902084
nsv1123573 CNV deletion 24896259
nsv1067241 CNV loss 25217958
nsv1064641 CNV gain 25217958
nsv1055243 CNV loss 25217958
esv3893427 CNV gain 25118596
esv3893425 CNV loss 25118596
esv3647210 CNV gain 21293372
esv3647209 CNV gain 21293372
esv3557890 CNV deletion 23714750
esv2723945 CNV deletion 23290073
esv2673573 CNV deletion 23128226
esv1443377 CNV deletion 17803354

Variation tolerance for CECR1 Gene

Residual Variation Intolerance Score: 47.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.29; 76.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CECR1 Gene

Human Gene Mutation Database (HGMD)
CECR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CECR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CECR1 Gene

Disorders for CECR1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for CECR1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
sneddon syndrome
  • idiopathic livedo reticularis with systemic involvement
polyarteritis nodosa, childhood-onset
  • polyarteritis nodosa
polyarteritis nodosa
  • polyarteritis nodosa, childhood-onset
systemic polyarteritis nodosa
  • polyarteritis nodosa
adenosine deaminase 2 deficiency
  • polyarteritis nodosa, childhood-onset
- elite association - COSMIC cancer census association via MalaCards
Search CECR1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CECR1_HUMAN
  • Polyarteritis nodosa (PAN) [MIM:615688]: A systemic necrotizing vasculitis that affects medium and small arteries. The ensuing tissue ischemia can affect any organ, including the skin, musculoskeletal system, kidneys, gastrointestinal tract, and the cardiovascular and nervous systems. Organ involvement and disease severity are highly variable. Clinical features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, myalgias, livedoid rash, gastrointestinal pain and hepatosplenomegaly. {ECO:0000269 PubMed:24552284, ECO:0000269 PubMed:24552285}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Sneddon syndrome (SNDDS) [MIM:182410]: A systemic non-inflammatory thrombotic vasculopathy characterized by the association of livedo racemosa, and in some cases livedo reticularis, with cerebrovascular disease. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discoloration of the skin affecting the legs, the arms, the buttocks and the trunk; livedo reticularis is limited to the extremities and is visible only in the cold. Cerebrovascular features include recurrent transient ischemic attacks, infarcts, and rarely spinal strokes or intracranial or subarachnoid hemorrhages. Headache and vertigo may precede the onset of livedo racemosa and cerebrovascular manifestations by several years. Rare neurologic symptoms include seizures, chorea, or myelopathies. {ECO:0000269 PubMed:25075847}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CECR1

Genetic Association Database (GAD)
CECR1
Human Genome Epidemiology (HuGE) Navigator
CECR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CECR1
genes like me logo Genes that share disorders with CECR1: view

No data available for Genatlas for CECR1 Gene

Publications for CECR1 Gene

  1. The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome. (PMID: 10756095) Riazi M.A. … McDermid H.E. (Genomics 2000) 2 3 4 22 64
  2. Human adenosine deaminases ADA1 and ADA2 bind to different subsets of immune cells. (PMID: 27663683) Kaljas Y. … Zavialov A.V. (Cell. Mol. Life Sci. 2016) 2 3 64
  3. Early-onset stroke and vasculopathy associated with mutations in ADA2. (PMID: 24552284) Zhou Q. … Aksentijevich I. (N. Engl. J. Med. 2014) 3 4 64
  4. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. (PMID: 24552285) Navon Elkan P. … Levy-Lahad E. (N. Engl. J. Med. 2014) 3 4 64
  5. Structural basis for the growth factor activity of human adenosine deaminase ADA2. (PMID: 20147294) Zavialov A.V. … Zavialov A.V. (J. Biol. Chem. 2010) 3 4 64

Products for CECR1 Gene

Sources for CECR1 Gene

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