InnateDB Protein
|
IDBP-237819.6
|
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
|
ENSP00000379589
|
InnateDB Gene
|
IDBG-5073 (MIPOL1)
|
Protein Structure
|
|
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 |
|
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
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
|
PFAM |
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q8TD10
|
PhosphoSite |
PhosphoSite-Q8TD10
|
TrEMBL |
G5EA54
|
UniProt Splice Variant |
|
Entrez Gene |
145282
|
UniGene |
Hs.684387
|
RefSeq |
NP_001182226
|
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
|
|
|