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

    Gene ID: 145282, updated on 3-Apr-2024

    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; AllianceGenome:HGNC:21460
    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
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    Genomic context

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    See MIPOL1 in Genome Data Viewer
    Location:
    14q13.3-q21.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (37197937..37552361)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (31387366..31741420)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (37667142..38021566)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 21 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:37640926-37641505 Neighboring gene SLC25A21 antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:37641506-37642084 Neighboring gene RNA, U6 small nuclear 273, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr14:37708438-37708614 Neighboring gene VISTA enhancer hs593 Neighboring gene uncharacterized LOC107984702 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:37866371-37867570 Neighboring gene FOXA motif-containing MPRA enhancer 271 Neighboring gene RNA, U6 small nuclear 886, pseudogene Neighboring gene Sharpr-MPRA regulatory region 2445 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:38057104-38057944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:38060408-38060957 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:38064763-38065962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:38068389-38069060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:38069061-38069730 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:38124049-38125248 Neighboring gene forkhead box A1 Neighboring gene tetratricopeptide repeat domain 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:38255187-38255688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:38255689-38256188 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. Functional characterization of a candidate tumor suppressor gene, Mirror Image Polydactyly 1, in nasopharyngeal carcinoma. Leong MML, et al. Int J Cancer, 2020 May 15. PMID 31609475
    2. 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
    3. 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
    4. Advances in the molecular genetics of non-syndromic polydactyly. Deng H, et al. Expert Rev Mol Med, 2015 Oct 30. PMID 26515020
    5. 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

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Functional characterization of a candidate tumor suppressor gene, Mirror Image Polydactyly 1, in nasopharyngeal carcinoma.
      Title: Functional characterization of a candidate tumor suppressor gene, Mirror Image Polydactyly 1, in nasopharyngeal carcinoma.
    2. 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.
    3. 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.
    4. 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.
    5. 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
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in 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_027724.2 RefSeqGene

      Range
      5002..358324
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_001182225.1

      Status: REVIEWED

      Source sequence(s)
      AK291850, AL121790, BX537396, CB105473
      Consensus CDS
      CCDS9664.1
      UniProtKB/Swiss-Prot
      D3DSA4, Q7Z3J0, Q8IV14, Q8TD10
      UniProtKB/TrEMBL
      A8K735
      Related
      ENSP00000444254.2, ENST00000537471.7
      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_001195297.2 → NP_001182226.1  mirror-image polydactyly gene 1 protein isoform 1

      See identical proteins and their annotated locations for NP_001182226.1

      Status: REVIEWED

      Source sequence(s)
      AL121790, AY059470, BC036523, BX537396, CB105473
      Consensus CDS
      CCDS9664.1
      UniProtKB/Swiss-Prot
      D3DSA4, Q7Z3J0, Q8IV14, Q8TD10
      UniProtKB/TrEMBL
      A8K735
      Related
      ENSP00000379589.2, ENST00000396294.7
      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_001388067.1 → NP_001374996.1  mirror-image polydactyly gene 1 protein isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL079304, AL109759, AL121790, AL121857
      Consensus CDS
      CCDS9664.1
      UniProtKB/Swiss-Prot
      D3DSA4, Q7Z3J0, Q8IV14, Q8TD10
      UniProtKB/TrEMBL
      A8K735
      Related
      ENSP00000506738.1, ENST00000684589.1
      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]

    4. NM_001388068.1 → NP_001374997.1  mirror-image polydactyly gene 1 protein isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL079304, AL109759, AL121790, AL121857
      Consensus CDS
      CCDS9664.1
      UniProtKB/Swiss-Prot
      D3DSA4, Q7Z3J0, Q8IV14, 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]

    5. NM_001388069.1 → NP_001374998.1  mirror-image polydactyly gene 1 protein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses the same exon combination as variant 14 but represents the allele encoded by the GRCh38 reference genome. It encodes isoform 2.
      Source sequence(s)
      AL079304, AL109759, AL121790, AL121857
      Consensus CDS
      CCDS91866.1
      UniProtKB/TrEMBL
      A0A8Q3SHU0, A0A8Q3SHY7
      Related
      ENSP00000511967.1, ENST00000694964.1
      Conserved Domains (1) summary
      COG1196
      Location:132 → 432
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    6. NM_001388070.1 → NP_001374999.1  mirror-image polydactyly gene 1 protein isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL079304, AL109759, AL121790, AL121857
      Consensus CDS
      CCDS91869.1
      UniProtKB/TrEMBL
      G5EA54, Q4G0U7
      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]

    7. NM_001388071.1 → NP_001375000.1  mirror-image polydactyly gene 1 protein isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL079304, AL109759, AL121790, AL121857
      Consensus CDS
      CCDS91869.1
      UniProtKB/TrEMBL
      G5EA54, Q4G0U7
      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]

    8. NM_001388072.1 → NP_001375001.1  mirror-image polydactyly gene 1 protein isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL079304, AL109759, AL121790, AL121857
      Consensus CDS
      CCDS91869.1
      UniProtKB/TrEMBL
      G5EA54, Q4G0U7
      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]

    9. NM_001388073.1 → NP_001375002.1  mirror-image polydactyly gene 1 protein isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL079304, AL109759, AL121790, AL121857
      UniProtKB/TrEMBL
      A8K735
      Conserved Domains (1) summary
      COG1196
      Location:102 → 387
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    10. NM_001388074.1 → NP_001375003.1  mirror-image polydactyly gene 1 protein isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL079304, AL109759, AL121790, AL121857
      UniProtKB/TrEMBL
      Q4G0U7
      Conserved Domains (1) summary
      COG1196
      Location:71 → 356
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    11. NM_001388075.1 → NP_001375004.1  mirror-image polydactyly gene 1 protein isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL079304, AL109759, AL121790, AL121857
      UniProtKB/TrEMBL
      Q4G0U7
      Conserved Domains (1) summary
      COG1196
      Location:71 → 356
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    12. NM_001388077.1 → NP_001375006.1  mirror-image polydactyly gene 1 protein isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL079304, AL109759, AL121790, AL121857
      UniProtKB/TrEMBL
      A8K735
      Conserved Domains (1) summary
      COG1196
      Location:105 → 340
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    13. NM_001412440.1 → NP_001399369.1  mirror-image polydactyly gene 1 protein isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14) uses the same exon combination as variant 6 but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. The encoded isoform (7) has a longer frameshifted N-terminus compared to isoform 2.
      Source sequence(s)
      CP068264

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

      See identical proteins and their annotated locations for NP_620059.1

      Status: REVIEWED

      Source sequence(s)
      AL121790, BC036523, BX537396, CB105473
      Consensus CDS
      CCDS9664.1
      UniProtKB/Swiss-Prot
      D3DSA4, Q7Z3J0, Q8IV14, Q8TD10
      UniProtKB/TrEMBL
      A8K735
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      37197937..37552361
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      31387366..31741420
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TD10.1 GenPept UniProtKB/Swiss-Prot:Q8TD10

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