MIPOL1
Mirror-image polydactyly gene 1 protein
Also known as: CCDC193, MIPO1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8TD10
- Gene
- MIPOL1
- Ensembl
- ENSG00000151338
- Chromosome
- 14
- Canonical length
- 442 aa
- Protein class
- Disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Cytosol
OverviewNCBI 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 known as Laurin-Sandrow Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2010]
Canonical amino-acid sequenceUniProt
442 residues, UniProt reviewed canonical sequence.
>Q8TD10|MIPOL1
1 MENWSKDITH SYLEQETTGI NKSTQPDEQL TMNSEKSMHR KSTELVNEIT CENTEWPGQR
61 STNFQIISSY PDDESVYCTT EKYNVMEHRH NDMHYECMTP CQVTSDSDKE KTIAFLLKEL
121 DILRTSNKKL QQKLAKEDKE QRKLKFKLEL QEKETEAKIA EKTAALVEEV YFAQKERDEA
181 VMSRLQLAIE ERDEAIARAK HMEMSLKVLE NINPEENDMT LQELLNRINN ADTGIAIQKN
241 GAIIVDRIYK TKECKMRITA EEMSALIEER DAALSKCKRL EQELHHVKEQ NQTSANNMRH
301 LTAENNQERA LKAKLLSMQQ ARETAVQQYK KLEEEIQTLR VYYSLHKSLS QEENLKDQFN
361 YTLSTYEEAL KNRENIVSIT QQQNEELATQ LQQALTERAN MELQLQHARE ASQVANEKVQ
421 KLERLVDVLR KKVGTGTMRT VILocalizationUniProt · AlphaFold · HPA
Whether an antibody against MIPOL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.54
- Highest tissue expression
- 7.9 nTPM
Expression across tissuesHPA
Tissue
- testis: 7.9 nTPM
- prostate: 7.2 nTPM
- parathyroid gland: 6.5 nTPM
- thyroid gland: 5.4 nTPM
- ovary: 4.8 nTPM
- endometrium: 4.4 nTPM
Single-cell type
- prostatic glandular cells: 1,813 nCPM
- myonuclei: 269 nCPM
- early spermatids: 264 nCPM
- late spermatids: 244 nCPM
- somatotrophs: 220 nCPM
- lactotrophs: 205 nCPM
Immune cell
- neutrophil: 1.5 nTPM
- basophil: 1.1 nTPM
- eosinophil: 0.3 nTPM
- memory B-cell: 0.2 nTPM
- naive B-cell: 0.2 nTPM
- NK-cell: 0.2 nTPM
Brain region
- hypothalamus: 13 nTPM
- choroid plexus: 13 nTPM
- basal ganglia: 12 nTPM
- cerebral cortex: 12 nTPM
- medulla oblongata: 12 nTPM
- midbrain: 12 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.1
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.42
- DepMap mean gene effect
- -0.08
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Mirror-image polydactyly gene 1 protein
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MIPOL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MIPOL1 as an antibody target. Whether an autoantibody or antibody against MIPOL1 could matter depends on whether native MIPOL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MIPOL1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MIPOL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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