Version 5.4
Homo sapiens Protein: CDAN1
Summary
InnateDB Protein IDBP-8063.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CDAN1
Protein Name congenital dyserythropoietic anemia, type I
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000348564
InnateDB Gene IDBG-8061 (CDAN1)
Protein Structure
UniProt Annotation
Function May acts as a negative regulator of ASF1 in chromatin assembly. {ECO:0000269PubMed:22407294}.
Subcellular Localization Cytoplasm. Nucleus. Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Note=Mainly detected as a cytoplasmic protein.
Disease Associations Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120]: An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural features include internuclear chromatin bridges connecting some nearly completely separated erythroblasts and an abnormal appearance (spongy or Swiss-cheese appearance) of the heterochromatin in a high proportion of the erythroblasts. {ECO:0000269PubMed:12434312}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Ubiquitously expressed. Isoform 3 is not found in erythroid cells. {ECO:0000269PubMed:12434312}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
Experimentally validated
Total 15 [view]
Protein-Protein 15 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0006325 chromatin organization
GO:0008104 protein localization
GO:0008156 negative regulation of DNA replication
GO:0031497 chromatin assembly
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0012505 endomembrane system
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8IWY9
PhosphoSite PhosphoSite-Q8IWY9
TrEMBL H3BM60
UniProt Splice Variant
Entrez Gene 146059
UniGene Hs.599232
RefSeq NP_612486
HUGO HGNC:1713
OMIM 607465
CCDS CCDS32209
HPRD 08470
IMGT
EMBL AC090510 AF525398 AY358467 BC001092 BC008333 BC008334 BC052568 BC066640
GenPept AAH01092 AAH08333 AAH08334 AAH52568 AAH66640 AAO14994 AAQ88832

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