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MIPOL1 (mirror-image polydactyly 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
145282
Gene nameGene Name - the full gene name approved by the HGNC.
Mirror-image polydactyly 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MIPOL1
SynonymsGene synonyms aliases
CCDC193
ChromosomeChromosome number
14
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q13.3-q21.1
SummarySummary of gene provided in NCBI Entrez 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 know
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT024688 hsa-miR-215-5p Microarray 19074876
MIRT026684 hsa-miR-192-5p Microarray 19074876
MIRT039001 hsa-let-7a-3p CLASH 23622248
MIRT723433 hsa-miR-5571-5p HITS-CLIP 19536157
MIRT723432 hsa-miR-593-5p HITS-CLIP 19536157
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 25910212, 26871637, 29892012, 31515488, 32296183
GO:0005634 Component Nucleus IDA 19667180
GO:0042802 Function Identical protein binding IPI 25416956, 32296183
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q8TD10
Protein name Mirror-image polydactyly gene 1 protein
Family and domains
Sequence
MENWSKDITHSYLEQETTGINKSTQPDEQLTMNSEKSMHRKSTELVNEITCENTEWPGQR
STNFQIISSYPDDESVYCTTEKYNVMEHRHNDMHYECMTPCQVTSDSDKEKTIAFLLKEL
DILRTSNKKLQQKLAKEDKEQRKLKFKLELQEKETEAKIAEKTAALVEEVYFAQKERDEA
VMSRLQLAIEERDEAIARAKHMEMSLKVLENINPEENDMTLQELLNRINNADTGIAIQKN
GAIIVDRIYKTKECKMRITAEEMSALIEERDAALSKCKRLEQELHHVKEQNQTSANNMRH
LTAENNQERALKAKLLSMQQARETAVQQYKKLEEEIQTLRVYYSLHKSLSQEENLKDQFN
YTLSTYEEALKNRENIVSITQQQNEELATQLQQALTERANMELQLQHAREASQVANEKVQ
KLERLVDVLRKKVGTGTMRTVI
Sequence length 442
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Polydactyly Polydactyly rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987 11954550

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