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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
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Genomic context

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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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