Human Gene MIPOL1 (ENST00000327441.11) Description and Page Index
Description: Homo sapiens mirror-image polydactyly 1 (MIPOL1), transcript variant 3, mRNA. (from RefSeq NM_138731) RefSeq Summary (NM_138731): This gene encodes a coiled-coil domain-containing protein. The encoded protein may function as a tumor suppressor. A translocation that results in truncation of the protein encoded by this locus has been associated with mirror-image polydactyly, also known as Laurin-Sandrow Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2010]. Gencode Transcript: ENST00000327441.11 Gencode Gene: ENSG00000151338.18 Transcript (Including UTRs) Position: hg38 chr14:37,197,950-37,552,361 Size: 354,412 Total Exon Count: 14 Strand: + Coding Region Position: hg38 chr14:37,247,889-37,546,971 Size: 299,083 Coding Exon Count: 11
ID:MIPO1_HUMAN DESCRIPTION: RecName: Full=Mirror-image polydactyly gene 1 protein; TISSUE SPECIFICITY: Expressed very weakly in heart, liver, skeletal muscle, kidney, pancreas and fetal kidney. Not detected in brain, placenta and lung. DISEASE: 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.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8TD10
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.