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Aliases for MIPOL1 Gene

Aliases for MIPOL1 Gene

  • Mirror-Image Polydactyly 1 2 3 5

External Ids for MIPOL1 Gene

Previous GeneCards Identifiers for MIPOL1 Gene

  • GC14P035069
  • GC14P031546
  • GC14P035657
  • GC14P036736
  • GC14P037667
  • GC14P017781

Summaries for MIPOL1 Gene

Entrez Gene Summary for MIPOL1 Gene

  • 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]

GeneCards Summary for MIPOL1 Gene

MIPOL1 (Mirror-Image Polydactyly 1) is a Protein Coding gene. Diseases associated with MIPOL1 include Polydactyly and Fibular Hypoplasia.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MIPOL1 Gene

Genomics for MIPOL1 Gene

Regulatory Elements for MIPOL1 Gene

Enhancers for MIPOL1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MIPOL1 on UCSC Golden Path with GeneCards custom track

Promoters for MIPOL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MIPOL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MIPOL1 Gene

37,197,913 bp from pter
37,578,857 bp from pter
380,945 bases
Plus strand

Genomic View for MIPOL1 Gene

Genes around MIPOL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MIPOL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MIPOL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MIPOL1 Gene

Proteins for MIPOL1 Gene

  • Protein details for MIPOL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Mirror-image polydactyly gene 1 protein
    Protein Accession:
    Secondary Accessions:
    • D3DSA4
    • Q7Z3J0
    • Q8IV14

    Protein attributes for MIPOL1 Gene

    442 amino acids
    Molecular mass:
    51537 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MIPOL1 Gene


neXtProt entry for MIPOL1 Gene

Proteomics data for MIPOL1 Gene at MOPED

Post-translational modifications for MIPOL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for MIPOL1 Gene

Domains & Families for MIPOL1 Gene

Protein Domains for MIPOL1 Gene


Suggested Antigen Peptide Sequences for MIPOL1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MIPOL1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for MIPOL1 Gene

Function for MIPOL1 Gene

genes like me logo Genes that share phenotypes with MIPOL1: view

Animal Models for MIPOL1 Gene

MGI Knock Outs for MIPOL1:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MIPOL1 Gene

Localization for MIPOL1 Gene

Subcellular locations from

Jensen Localization Image for MIPOL1 Gene COMPARTMENTS Subcellular localization image for MIPOL1 gene
Compartment Confidence
nucleus 5
cytosol 4

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MIPOL1 Gene

Pathways & Interactions for MIPOL1 Gene

SuperPathways for MIPOL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MIPOL1 Gene


No data available for Pathways by source and SIGNOR curated interactions for MIPOL1 Gene

Drugs & Compounds for MIPOL1 Gene

No Compound Related Data Available

Transcripts for MIPOL1 Gene

Unigene Clusters for MIPOL1 Gene

Mirror-image polydactyly 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MIPOL1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b
SP1: - -
SP2: - - -
SP3: - - -

Relevant External Links for MIPOL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MIPOL1 Gene

mRNA expression in normal human tissues for MIPOL1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MIPOL1 Gene

SOURCE GeneReport for Unigene cluster for MIPOL1 Gene Hs.660396

mRNA Expression by UniProt/SwissProt for MIPOL1 Gene

Tissue specificity: Expressed very weakly in heart, liver, skeletal muscle, kidney, pancreas and fetal kidney. Not detected in brain, placenta and lung.
genes like me logo Genes that share expression patterns with MIPOL1: view

Protein tissue co-expression partners for MIPOL1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein differential expression in normal tissues for MIPOL1 Gene

Orthologs for MIPOL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MIPOL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia MIPOL1 35
  • 89.97 (n)
  • 85.49 (a)
  • 79 (a)
(Canis familiaris)
Mammalia MIPOL1 35
  • 90.01 (n)
  • 85.13 (a)
  • 85 (a)
(Mus musculus)
Mammalia Mipol1 35
  • 82.45 (n)
  • 76.46 (a)
Mipol1 16
Mipol1 36
  • 74 (a)
(Pan troglodytes)
Mammalia MIPOL1 35
  • 99.7 (n)
  • 99.55 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Mipol1 35
  • 83.17 (n)
  • 77.14 (a)
(Monodelphis domestica)
Mammalia MIPOL1 36
  • 69 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 65 (a)
-- 36
  • 54 (a)
(Gallus gallus)
Aves MIPOL1 35
  • 72.84 (n)
  • 65.12 (a)
  • 64 (a)
(Anolis carolinensis)
Reptilia MIPOL1 36
  • 52 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mipol1 35
  • 61.16 (n)
  • 53.33 (a)
(Danio rerio)
Actinopterygii mipol1 35
  • 54.69 (n)
  • 49.7 (a)
mipol1 36
  • 30 (a)
Species with no ortholog for MIPOL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MIPOL1 Gene

Gene Tree for MIPOL1 (if available)
Gene Tree for MIPOL1 (if available)

Paralogs for MIPOL1 Gene

No data available for Paralogs for MIPOL1 Gene

Variants for MIPOL1 Gene

Sequence variations from dbSNP and Humsavar for MIPOL1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs35870036 - 37,270,454(-) TTCTC(A/T)GTTCT nc-transcript-variant, reference, missense
rs2516315 -- 37,283,712(-) TATGA(A/T)AGCTC intron-variant
rs7140437 -- 37,556,553(+) AGAGG(A/G)AGAGG intron-variant
rs1473715 -- 37,531,700(+) AGTTT(C/T)TGAAA intron-variant
rs1474885 -- 37,386,712(-) TACTA(C/T)ATTAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MIPOL1 Gene

Variant ID Type Subtype PubMed ID
nsv901635 CNV Gain 21882294
dgv1876n71 CNV Loss 21882294
nsv901638 CNV Loss 21882294
nsv901639 CNV Loss 21882294
esv2617029 CNV Loss 19546169
nsv511542 CNV Loss 21212237
esv23551 CNV Gain 19812545
nsv821405 CNV Deletion 20802225
nsv901640 CNV Loss 21882294
esv2632367 CNV Insertion 19546169
esv268493 CNV Insertion 20981092
esv273044 CNV Insertion 20981092
nsv901641 CNV Loss 21882294
nsv826923 CNV Gain 20364138

Variation tolerance for MIPOL1 Gene

Residual Variation Intolerance Score: 10.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.82; 34.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MIPOL1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MIPOL1 Gene

Disorders for MIPOL1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MIPOL1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
  • postaxial polydactyly
fibular hypoplasia
  • fibular aplasia
laurin-sandrow syndrome
  • tetramelic mirror-image polydactyly
- elite association - COSMIC cancer census association via MalaCards


  • 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. {ECO:0000269 PubMed:11954550}.

Relevant External Links for MIPOL1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MIPOL1: view

No data available for Genatlas for MIPOL1 Gene

Publications for MIPOL1 Gene

  1. A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet. (PMID: 11954550) Kondoh S. … Yoshiura K. (J. Hum. Genet. 2002) 2 3 4 23 67
  2. Chromosome 14 transfer and functional studies identify a candidate tumor suppressor gene, mirror image polydactyly 1, in nasopharyngeal carcinoma. (PMID: 19667180) Cheung A.K. … Lung M.L. (Proc. Natl. Acad. Sci. U.S.A. 2009) 2 3
  3. Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome. (PMID: 12700605) Kamnasaran D. … Cox D.W. (Eur. J. Hum. Genet. 2003) 3 23
  4. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X. … Vidal M. (Cell 2016) 3
  5. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp J.J. … Guthrie C. (Nat. Struct. Mol. Biol. 2015) 3

Products for MIPOL1 Gene

Sources for MIPOL1 Gene