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

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

Summary

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

Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

Preferred Names
mirror-image polydactyly gene 1 protein

NCBI Reference Sequences (RefSeq)

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_001195296.2NP_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:105340
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG4372
    Location:259431
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
  2. NM_001195297.1NP_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:105340
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG4372
    Location:259431
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
  3. NM_138731.7NP_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:105340
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG4372
    Location:259431
    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_017021004.1XP_016876493.1  mirror-image polydactyly gene 1 protein isoform X4

    UniProtKB/Swiss-Prot
    Q8TD10
    Conserved Domains (2) summary
    COG1196
    Location:105340
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG4372
    Location:259431
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
  2. XM_017020994.1XP_016876483.1  mirror-image polydactyly gene 1 protein isoform X1

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

    Conserved Domains (1) summary
    pfam00261
    Location:128348
    Tropomyosin; Tropomyosin
  4. XM_017021011.2XP_016876500.1  mirror-image polydactyly gene 1 protein isoform X9

    Conserved Domains (1) summary
    cl25732
    Location:106397
    SMC_N; RecF/RecN/SMC N terminal domain
  5. XM_024449483.1XP_024305251.1  mirror-image polydactyly gene 1 protein isoform X5

    Conserved Domains (1) summary
    cl25732
    Location:103387
    SMC_N; RecF/RecN/SMC N terminal domain
  6. XM_011536463.2XP_011534765.1  mirror-image polydactyly gene 1 protein isoform X5

    Conserved Domains (1) summary
    cl25732
    Location:103387
    SMC_N; RecF/RecN/SMC N terminal domain
  7. XM_017020999.1XP_016876488.1  mirror-image polydactyly gene 1 protein isoform X3

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

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

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

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

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

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

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

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

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

    Conserved Domains (2) summary
    COG1196
    Location:105340
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam15921
    Location:268419
    CCDC158; Coiled-coil domain-containing protein 158
  17. XM_017021006.1XP_016876495.1  mirror-image polydactyly gene 1 protein isoform X6

    Conserved Domains (1) summary
    COG1196
    Location:132425
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  18. XM_017021003.1XP_016876492.1  mirror-image polydactyly gene 1 protein isoform X4

    UniProtKB/Swiss-Prot
    Q8TD10
    Conserved Domains (2) summary
    COG1196
    Location:105340
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG4372
    Location:259431
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
  19. XM_024449484.1XP_024305252.1  mirror-image polydactyly gene 1 protein isoform X9

    Conserved Domains (1) summary
    cl25732
    Location:106397
    SMC_N; RecF/RecN/SMC N terminal domain
  20. XM_017021005.1XP_016876494.1  mirror-image polydactyly gene 1 protein isoform X4

    UniProtKB/Swiss-Prot
    Q8TD10
    Conserved Domains (2) summary
    COG1196
    Location:105340
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG4372
    Location:259431
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
  21. XM_017021009.1XP_016876498.1  mirror-image polydactyly gene 1 protein isoform X8

    UniProtKB/TrEMBL
    G5EA54
    Conserved Domains (2) summary
    COG1196
    Location:74309
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG4372
    Location:228400
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
  22. XM_017021012.1XP_016876501.1  mirror-image polydactyly gene 1 protein isoform X10

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

    UniProtKB/TrEMBL
    G5EA54
    Related
    ENSP00000438319.2, ENST00000539062.6
    Conserved Domains (2) summary
    COG1196
    Location:74309
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG4372
    Location:228400
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
  24. XM_017021007.1XP_016876496.1  mirror-image polydactyly gene 1 protein isoform X7

    Related
    ENSP00000450479.1, ENST00000556451.5
    Conserved Domains (2) summary
    COG1196
    Location:105340
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG4372
    Location:259426
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
  25. XM_017021014.1XP_016876503.1  mirror-image polydactyly gene 1 protein isoform X11

    Conserved Domains (1) summary
    pfam00261
    Location:128348
    Tropomyosin; Tropomyosin
  26. XM_017021017.1XP_016876506.1  mirror-image polydactyly gene 1 protein isoform X14

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

    Conserved Domains (1) summary
    COG1196
    Location:105340
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  28. XM_017021016.1XP_016876505.1  mirror-image polydactyly gene 1 protein isoform X12

    Conserved Domains (1) summary
    COG1196
    Location:105340
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  29. XM_017021018.1XP_016876507.1  mirror-image polydactyly gene 1 protein isoform X15

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

    UniProtKB/TrEMBL
    G5EA54
    Conserved Domains (2) summary
    COG1196
    Location:74309
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG4372
    Location:228400
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
  31. XM_017021013.1XP_016876502.1  mirror-image polydactyly gene 1 protein isoform X10

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

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

RNA

  1. XR_001750159.1 RNA Sequence

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