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 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:37,197,950-37,552,361)mRNA (may differ from genome)Protein (442 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
Stanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  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.

-  MalaCards Disease Associations
  MalaCards Gene Search: MIPOL1
Diseases sorted by gene-association score: polydactyly (54), fibular hypoplasia (19), laurin-sandrow syndrome (11)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.03 RPKM in Testis
Total median expression: 19.50 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -143.30466-0.308 Picture PostScript Text
3' UTR -1149.205390-0.213 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026175 - MIPOL1

ModBase Predicted Comparative 3D Structure on Q8TD10
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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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0042802 identical protein binding

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  BC035870 - Homo sapiens mirror-image polydactyly 1, mRNA (cDNA clone MGC:46550 IMAGE:5245356), complete cds.
BX537396 - Homo sapiens mRNA; cDNA DKFZp686A21112 (from clone DKFZp686A21112); complete cds.
AK291850 - Homo sapiens cDNA FLJ76428 complete cds, highly similar to Homo sapiens mirror-image polydactyly 1 (MIPOL1), mRNA.
BC036523 - Homo sapiens mirror-image polydactyly 1, mRNA (cDNA clone MGC:33411 IMAGE:4828885), complete cds.
BC036124 - Homo sapiens mirror-image polydactyly 1, mRNA (cDNA clone MGC:34010 IMAGE:5298587), complete cds.
BX647795 - Homo sapiens mRNA; cDNA DKFZp686E2187 (from clone DKFZp686E2187).
AY059470 - Homo sapiens mirror-image polydactyly protein mRNA, complete cds.
KU178867 - Homo sapiens mirror-image polydactyly 1 isoform 1 (MIPOL1) mRNA, partial cds.
KU178868 - Homo sapiens mirror-image polydactyly 1 isoform 2 (MIPOL1) mRNA, partial cds, alternatively spliced.
KU178869 - Homo sapiens mirror-image polydactyly 1 isoform 4 (MIPOL1) mRNA, partial cds, alternatively spliced.
JD502752 - Sequence 483776 from Patent EP1572962.
JD215529 - Sequence 196553 from Patent EP1572962.
BX537870 - Homo sapiens mRNA; cDNA DKFZp313M2036 (from clone DKFZp313M2036).
FJ423747 - Homo sapiens MIPOL1/DGKB fusion mRNA, partial sequence.
JD336376 - Sequence 317400 from Patent EP1572962.
JD527285 - Sequence 508309 from Patent EP1572962.
JD348750 - Sequence 329774 from Patent EP1572962.
JD042898 - Sequence 23922 from Patent EP1572962.
JD143698 - Sequence 124722 from Patent EP1572962.
JD377282 - Sequence 358306 from Patent EP1572962.
JD529335 - Sequence 510359 from Patent EP1572962.
JD169537 - Sequence 150561 from Patent EP1572962.
JD169538 - Sequence 150562 from Patent EP1572962.
JD041663 - Sequence 22687 from Patent EP1572962.
JD055080 - Sequence 36104 from Patent EP1572962.
JD125125 - Sequence 106149 from Patent EP1572962.
JD125126 - Sequence 106150 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: D3DSA4, MIPO1_HUMAN, NM_138731, Q7Z3J0, Q8IV14, Q8TD10, uc001wuc.1, uc001wuc.2, uc001wuc.3, uc001wuc.4
UCSC ID: uc001wuc.4
RefSeq Accession: NM_138731
Protein: Q8TD10 (aka MIPO1_HUMAN or MIPO_HUMAN)
CCDS: CCDS9664.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.