Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MIPOL1 Gene

Aliases for MIPOL1 Gene

  • Mirror-Image Polydactyly 1 2 3 5
  • Mirror-Image Polydactyly Gene 1 Protein 3
  • CCDC193 3

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 Laurin-Sandrow Syndrome.

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G037196 1.1 ENCODE 18.2 -0.3 -298 2.5 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF263 SP3 SP5 MIPOL1 SLC25A21-AS1 RNU6-273P
GH14G036995 0.6 FANTOM5 31.4 -201.8 -201779 0.3 KLF16 RFXANK TAL1 HMBOX1 ZNF652 YY1 MIPOL1 NKX2-8 SLC25A21 GC14P036975 GC14P037020
GH14G037582 1.7 FANTOM5 ENCODE dbSUPER 10.5 +393.5 393538 18.0 PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B MIPOL1 SLC25A21-AS1 FOXA1 TTC6 ENSG00000259087
GH14G037000 0.4 FANTOM5 36.7 -197.3 -197254 0.3 NBN FOXP1 MIPOL1 NKX2-8 SLC25A21 GC14P036975 GC14P037020
GH14G036848 0.7 FANTOM5 20.8 -349.6 -349595 0.4 HDAC1 TBP PKNOX1 ZNF837 GFI1B CEBPB YBX1 CEBPG IRF9 ZSCAN21 MIPOL1 NKX2-8 SLC25A21 ENSG00000258601 MIR4503
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000067763 87 1600 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF263 SP3 SP5

Genomic Location for MIPOL1 Gene

Chromosome:
14
Start:
37,197,913 bp from pter
End:
37,578,857 bp from pter
Size:
380,945 bases
Orientation:
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:
    Q8TD10-MIPO1_HUMAN
    Recommended name:
    Mirror-image polydactyly gene 1 protein
    Protein Accession:
    Q8TD10
    Secondary Accessions:
    • D3DSA4
    • Q7Z3J0
    • Q8IV14

    Protein attributes for MIPOL1 Gene

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

    Alternative splice isoforms for MIPOL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MIPOL1 Gene

Post-translational modifications for MIPOL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MIPOL1 Gene

Domains & Families for MIPOL1 Gene

Protein Domains for MIPOL1 Gene

InterPro:
ProtoNet:

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

Gene Ontology (GO) - Molecular Function for MIPOL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with MIPOL1: view
genes like me logo Genes that share phenotypes with MIPOL1: view

Animal Models for MIPOL1 Gene

MGI Knock Outs for MIPOL1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Localization for MIPOL1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MIPOL1 gene
Compartment Confidence
nucleus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for MIPOL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19667180
genes like me logo Genes that share ontologies with MIPOL1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MIPOL1 Gene

Pathways & Interactions for MIPOL1 Gene

SuperPathways for MIPOL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MIPOL1 Gene

None

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:

CRISPR Products

Inhibitory RNA Products

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: - - -
SP4:

Relevant External Links for MIPOL1 Gene

GeneLoc Exon Structure for
MIPOL1
ECgene alternative splicing isoforms for
MIPOL1

Expression for MIPOL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MIPOL1 Gene

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



Protein tissue co-expression partners for MIPOL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MIPOL1 Gene:

MIPOL1

SOURCE GeneReport for Unigene cluster for MIPOL1 Gene:

Hs.660396

mRNA Expression by UniProt/SwissProt for MIPOL1 Gene:

Q8TD10-MIPO1_HUMAN
Tissue specificity: Expressed very weakly in heart, liver, skeletal muscle, kidney, pancreas and fetal kidney. Not detected in brain, placenta and lung.

Evidence on tissue expression from TISSUES for MIPOL1 Gene

  • Nervous system(4.3)
  • Heart(4.2)
  • Muscle(4.2)
genes like me logo Genes that share expression patterns with MIPOL1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia MIPOL1 34 35
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia MIPOL1 34 35
  • 90.01 (n)
cow
(Bos Taurus)
Mammalia MIPOL1 34 35
  • 89.97 (n)
rat
(Rattus norvegicus)
Mammalia Mipol1 34
  • 83.17 (n)
mouse
(Mus musculus)
Mammalia Mipol1 34 16 35
  • 82.45 (n)
oppossum
(Monodelphis domestica)
Mammalia MIPOL1 35
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 65 (a)
OneToMany
-- 35
  • 54 (a)
OneToMany
chicken
(Gallus gallus)
Aves MIPOL1 34 35
  • 72.84 (n)
lizard
(Anolis carolinensis)
Reptilia MIPOL1 35
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mipol1 34
  • 61.16 (n)
zebrafish
(Danio rerio)
Actinopterygii mipol1 34 35
  • 54.69 (n)
Species where no ortholog for MIPOL1 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for MIPOL1 (if available)
TreeFam:
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
rs1000003634 -- 37,362,931(+) ACGAC(A/G)TTCTT intron-variant
rs1000020864 -- 37,334,908(+) TTTGT(G/T)TATTC intron-variant
rs1000027370 -- 37,422,966(+) TTTAG(C/T)CTGGG intron-variant, downstream-variant-500B
rs1000046242 -- 37,487,829(+) TCTAT(A/C)TCCTT intron-variant
rs1000058250 -- 37,490,704(+) GAAGA(G/T)AATTT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1068n106 CNV deletion 24896259
dgv1871n100 CNV gain 25217958
esv23551 CNV gain 19812545
esv2617029 CNV loss 19546169
esv2632367 CNV insertion 19546169
esv3398904 CNV insertion 20981092
esv3634087 CNV gain 21293372
esv3634088 CNV loss 21293372
nsv1043093 CNV loss 25217958
nsv1070216 CNV deletion 25765185
nsv1125356 OTHER inversion 24896259
nsv1153559 CNV deletion 26484159
nsv477667 CNV novel sequence insertion 20440878
nsv511542 CNV loss 21212237
nsv564349 CNV loss 21841781
nsv821405 CNV deletion 20802225
nsv826923 CNV gain 20364138
nsv952827 CNV deletion 24416366

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)
MIPOL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIPOL1

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
polydactyly
  • postaxial polydactyly
laurin-sandrow syndrome
  • fibula ulna duplication tibia radius absence
fibular hypoplasia
  • fibular aplasia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MIPO1_HUMAN
  • 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)
MIPOL1
Human Genome Epidemiology (HuGE) Navigator
MIPOL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MIPOL1
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 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. 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 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. 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 22 64

Products for MIPOL1 Gene

Sources for MIPOL1 Gene

Content
Loading form....