Version 5.4
Homo sapiens Protein: MIPOL1
Summary
InnateDB Protein IDBP-5075.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MIPOL1
Protein Name mirror-image polydactyly 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000333539
InnateDB Gene IDBG-5073 (MIPOL1)
Protein Structure
UniProt Annotation
Function
Subcellular Localization
Disease Associations Note=A chromosomal aberration involving MIPOL1 is found in a patient with mirror-image polydactyly of hands and feet without other anomalies (MIP). Translocation t(2;14)(p23.3;q13). MIP is a very rare congenital anomaly characterized by mirror- image duplication of digits. MIP is occasionally associated with dimelia of the ulna and fibula, tibial and/or fibular hypoplasia, nasal abnormality and other malformations. Most MIP cases are sporadic, but very rare parent-child transmissions observed in familial cases suggest an autosomal mode of inheritance.
Tissue Specificity Expressed very weakly in heart, liver, skeletal muscle, kidney, pancreas and fetal kidney. Not detected in brain, placenta and lung. {ECO:0000269PubMed:11954550}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
Cellular Component
GO:0005634 nucleus
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8TD10
PhosphoSite PhosphoSite-Q8TD10
TrEMBL G5EA54
UniProt Splice Variant
Entrez Gene 145282
UniGene Hs.684387
RefSeq NP_620059
HUGO HGNC:21460
OMIM 606850
CCDS CCDS9664
HPRD 06029
IMGT
EMBL AL079304 AL109759 AL121790 AL121857 AY059470 BC035870 BX537396 BX537870 CH471078
GenPept AAH35870 AAL27798 CAD97638 CAD97872 EAW65847 EAW65848 EAW65850

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