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MIPOL1 mirror-image polydactyly 1 [ Homo sapiens (human) ]

Gene ID: 145282, updated on 7-Jun-2020

Summary

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Official Symbol
MIPOL1provided by HGNC
Official Full Name
mirror-image polydactyly 1provided by HGNC
Primary source
HGNC:HGNC:21460
See related
Ensembl:ENSG00000151338 MIM:606850
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CCDC193
Summary
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]
Expression
Broad expression in prostate (RPKM 1.7), testis (RPKM 0.6) and 20 other tissues See more
Orthologs
mouse all

Genomic context

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See MIPOL1 in Genome Data Viewer
Location:
14q13.3-q21.1
Exon count:
29
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (37197888..37579207)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (37667118..38020464)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 21 Neighboring gene SLC25A21 antisense RNA 1 Neighboring gene RNA, U6 small nuclear 273, pseudogene Neighboring gene VISTA enhancer hs593 Neighboring gene uncharacterized LOC107984702 Neighboring gene FOXA motif-containing MPRA enhancer 271 Neighboring gene RNA, U6 small nuclear 886, pseudogene Neighboring gene forkhead box A1 Neighboring gene tetratricopeptide repeat domain 6 Neighboring gene RNA, U6 small nuclear 1277, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome. Kamnasaran D, et al. Eur J Hum Genet, 2003 Apr. PMID 12700605
  2. Chromosome 14 transfer and functional studies identify a candidate tumor suppressor gene, mirror image polydactyly 1, in nasopharyngeal carcinoma. Cheung AK, et al. Proc Natl Acad Sci U S A, 2009 Aug 25. PMID 19667180, Free PMC Article
  3. Advances in the molecular genetics of non-syndromic polydactyly. Deng H, et al. Expert Rev Mol Med, 2015 Oct 30. PMID 26515020
  4. A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet. Kondoh S, et al. J Hum Genet, 2002. PMID 11954550
  5. A SARS-CoV-2 protein interaction map reveals targets for drug repurposing. Gordon DE, et al. Nature, 2020 Apr 30. PMID 32353859

See all (29) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. To date, at least ten loci and four non-syndromic polydactyly-causing genes, including the GLI3 gene, the ZNF141 gene, the MIPOL1 gene and the PITX1 gene, have been identified. (Review)
    Title: Advances in the molecular genetics of non-syndromic polydactyly.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  3. Study provides compelling evidence that chromosome 14 harbors tumor suppressor genes associated with NPC and that a candidate gene, MIPOL1, is associated with tumor development.
    Title: Chromosome 14 transfer and functional studies identify a candidate tumor suppressor gene, mirror image polydactyly 1, in nasopharyngeal carcinoma.
  4. candidate gene for mirror-image polydactyly of hands and feet anomaly. Maps to 14q13.
    Title: A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC34010, DKFZp313M2036

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
mirror-image polydactyly gene 1 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027724.1 RefSeqGene

    Range
    5025..359449
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001195296.2 → NP_001182225.1  mirror-image polydactyly gene 1 protein

    See identical proteins and their annotated locations for NP_001182225.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AK291850, AL121790, BX537396, CB105473
    Consensus CDS
    CCDS9664.1
    UniProtKB/Swiss-Prot
    Q8TD10
    UniProtKB/TrEMBL
    A8K735
    Conserved Domains (2) summary
    COG1196
    Location:105 → 340
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG4372
    Location:259 → 431
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]

  2. NM_001195297.1 → NP_001182226.1  mirror-image polydactyly gene 1 protein

    See identical proteins and their annotated locations for NP_001182226.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AL121790, AY059470, BC036523, BX537396, CB105473
    Consensus CDS
    CCDS9664.1
    UniProtKB/Swiss-Prot
    Q8TD10
    UniProtKB/TrEMBL
    Q4G0U7
    Related
    ENSP00000379589.2, ENST00000396294.6
    Conserved Domains (2) summary
    COG1196
    Location:105 → 340
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG4372
    Location:259 → 431
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]

  3. NM_138731.7 → NP_620059.1  mirror-image polydactyly gene 1 protein

    See identical proteins and their annotated locations for NP_620059.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AL121790, BC036523, BX537396, CB105473
    Consensus CDS
    CCDS9664.1
    UniProtKB/Swiss-Prot
    Q8TD10
    UniProtKB/TrEMBL
    Q4G0U7
    Related
    ENSP00000333539.7, ENST00000327441.11
    Conserved Domains (2) summary
    COG1196
    Location:105 → 340
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG4372
    Location:259 → 431
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    37197888..37579207
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021004.1 → XP_016876493.1  mirror-image polydactyly gene 1 protein isoform X4

    UniProtKB/Swiss-Prot
    Q8TD10
    Conserved Domains (2) summary
    COG1196
    Location:105 → 340
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG4372
    Location:259 → 431
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]

  2. XM_017020994.1 → XP_016876483.1  mirror-image polydactyly gene 1 protein isoform X1

  3. XM_017021015.2 → XP_016876504.1  mirror-image polydactyly gene 1 protein isoform X11

    Conserved Domains (1) summary
    pfam00261
    Location:128 → 348
    Tropomyosin; Tropomyosin

  4. XM_017021011.2 → XP_016876500.1  mirror-image polydactyly gene 1 protein isoform X9

    Conserved Domains (1) summary
    cl25732
    Location:106 → 397
    SMC_N; RecF/RecN/SMC N terminal domain

  5. XM_024449483.1 → XP_024305251.1  mirror-image polydactyly gene 1 protein isoform X5

    Conserved Domains (1) summary
    cl25732
    Location:103 → 387
    SMC_N; RecF/RecN/SMC N terminal domain

  6. XM_011536463.2 → XP_011534765.1  mirror-image polydactyly gene 1 protein isoform X5

    Conserved Domains (1) summary
    cl25732
    Location:103 → 387
    SMC_N; RecF/RecN/SMC N terminal domain

  7. XM_017020999.1 → XP_016876488.1  mirror-image polydactyly gene 1 protein isoform X3

  8. XM_017021001.1 → XP_016876490.1  mirror-image polydactyly gene 1 protein isoform X3

  9. XM_017021000.1 → XP_016876489.1  mirror-image polydactyly gene 1 protein isoform X3

  10. XM_017020991.1 → XP_016876480.1  mirror-image polydactyly gene 1 protein isoform X1

  11. XM_017020992.1 → XP_016876481.1  mirror-image polydactyly gene 1 protein isoform X1

  12. XM_017020996.1 → XP_016876485.1  mirror-image polydactyly gene 1 protein isoform X1

  13. XM_017020993.1 → XP_016876482.1  mirror-image polydactyly gene 1 protein isoform X1

  14. XM_017020997.1 → XP_016876486.1  mirror-image polydactyly gene 1 protein isoform X1

  15. XM_017020995.1 → XP_016876484.1  mirror-image polydactyly gene 1 protein isoform X1

  16. XM_017020998.1 → XP_016876487.1  mirror-image polydactyly gene 1 protein isoform X2

    Conserved Domains (2) summary
    COG1196
    Location:105 → 340
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam15921
    Location:268 → 419
    CCDC158; Coiled-coil domain-containing protein 158

  17. XM_017021006.1 → XP_016876495.1  mirror-image polydactyly gene 1 protein isoform X6

    Conserved Domains (1) summary
    COG1196
    Location:132 → 425
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  18. XM_017021003.1 → XP_016876492.1  mirror-image polydactyly gene 1 protein isoform X4

    UniProtKB/Swiss-Prot
    Q8TD10
    Conserved Domains (2) summary
    COG1196
    Location:105 → 340
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG4372
    Location:259 → 431
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]

  19. XM_024449484.1 → XP_024305252.1  mirror-image polydactyly gene 1 protein isoform X9

    Conserved Domains (1) summary
    cl25732
    Location:106 → 397
    SMC_N; RecF/RecN/SMC N terminal domain

  20. XM_017021005.1 → XP_016876494.1  mirror-image polydactyly gene 1 protein isoform X4

    UniProtKB/Swiss-Prot
    Q8TD10
    Conserved Domains (2) summary
    COG1196
    Location:105 → 340
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG4372
    Location:259 → 431
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]

  21. XM_017021009.1 → XP_016876498.1  mirror-image polydactyly gene 1 protein isoform X8

    UniProtKB/TrEMBL
    G5EA54
    Conserved Domains (2) summary
    COG1196
    Location:74 → 309
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG4372
    Location:228 → 400
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]

  22. XM_017021012.1 → XP_016876501.1  mirror-image polydactyly gene 1 protein isoform X10

  23. XM_017021008.1 → XP_016876497.1  mirror-image polydactyly gene 1 protein isoform X8

    UniProtKB/TrEMBL
    G5EA54
    Related
    ENSP00000438319.2, ENST00000539062.6
    Conserved Domains (2) summary
    COG1196
    Location:74 → 309
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG4372
    Location:228 → 400
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]

  24. XM_017021007.1 → XP_016876496.1  mirror-image polydactyly gene 1 protein isoform X7

    Related
    ENSP00000450479.1, ENST00000556451.5
    Conserved Domains (2) summary
    COG1196
    Location:105 → 340
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG4372
    Location:259 → 426
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]

  25. XM_017021014.1 → XP_016876503.1  mirror-image polydactyly gene 1 protein isoform X11

    Conserved Domains (1) summary
    pfam00261
    Location:128 → 348
    Tropomyosin; Tropomyosin

  26. XM_017021017.1 → XP_016876506.1  mirror-image polydactyly gene 1 protein isoform X14

  27. XM_011536467.2 → XP_011534769.1  mirror-image polydactyly gene 1 protein isoform X13

    Conserved Domains (1) summary
    COG1196
    Location:105 → 340
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  28. XM_017021016.1 → XP_016876505.1  mirror-image polydactyly gene 1 protein isoform X12

    Conserved Domains (1) summary
    COG1196
    Location:105 → 340
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  29. XM_017021018.1 → XP_016876507.1  mirror-image polydactyly gene 1 protein isoform X15

  30. XM_017021010.1 → XP_016876499.1  mirror-image polydactyly gene 1 protein isoform X8

    UniProtKB/TrEMBL
    G5EA54
    Conserved Domains (2) summary
    COG1196
    Location:74 → 309
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG4372
    Location:228 → 400
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]

  31. XM_017021013.1 → XP_016876502.1  mirror-image polydactyly gene 1 protein isoform X10

  32. XM_017021002.1 → XP_016876491.1  mirror-image polydactyly gene 1 protein isoform X3

  33. XM_017021019.1 → XP_016876508.1  mirror-image polydactyly gene 1 protein isoform X16

RNA

  1. XR_001750159.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TD10.1 GenPept UniProtKB/Swiss-Prot:Q8TD10

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