MDM1
Nuclear protein MDM1
Also known as: MDM1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8TC05
- Gene
- MDM1
- Ensembl
- ENSG00000111554
- Chromosome
- 12
- Canonical length
- 714 aa
- Protein class
- Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Centriolar satellite,Cytosol
OverviewNCBI Gene
This gene encodes a microtubule-binding nuclear protein that localizes to the centrioles of dividing cells and differentiating multiciliated cells and negatively regulates centriole duplication. The encoded protein is closely associated with the centriole barrel, and resides in the centriole lumen. Naturally-occurring mutations in the orthologous mouse gene are associated with age-related retinal degeneration. [provided by RefSeq, Feb 2019]
Canonical amino-acid sequenceUniProt
714 residues, UniProt reviewed canonical sequence.
>Q8TC05|MDM1
1 MPVRFKGLSE YQRNFLWKKS YLSESCNSSV GRKYPWAGLR SDQLGITKEP SFISKRRVPY
61 HDPQISKSLE WNGAISESNV VASPEPEAPE TPKSQEAEQK DVTQERVHSL EASRVPKRTR
121 SHSADSRAEG ASDVENNEGV TNHTPVNENV ELEHSTKVLS ENVDNGLDRL LRKKAGLTVV
181 PSYNALRNSE YQRQFVWKTS KETAPAFAAN QVFHNKSQFV PPFKGNSVIH ETEYKRNFKG
241 LSPVKEPKLR NDLRENRNLE TVSPERKSNK IDDRLKLEAE MELKDLHQPK RKLTPWKHQR
301 LGKVNSEYRA KFLSPAQYLY KAGAWTHVKG NMPNQVKELR EKAEFYRKRV QGTHFSRDHL
361 NQILSDSNCC WDVSSTTSSE GTVSSNIRAL DLAGDPTSHK TLQKCPSTEP EEKGNIVEEQ
421 PQKNTTEKLG VSAPTIPVRR RLAWDTENTS EDVQKQPGEK EEEDDNEEEG DRKTGKQAFM
481 GEQEKLDVRE KSKADKMKEG SDSSVSSEKG GRLPTPKLRE LGGIQRTHHD LTTPAVGGAV
541 LVSPSKMKPP APEQRKRMTS QDCLETSKND FTKKESRAVS LLTSPAAGIK TVDPLPLRED
601 SEDNIHKFAE ATLPVSKIPK YPTNPPGQLP SPPHVPSYWH PSRRIQGSLR DPEFQHNVGK
661 ARMNNLQLPQ HEAFNDEDED RLSEISARSA ASSLRAFQTL ARAKKRKENF WGKTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MDM1 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)
- 0.67
- Highest tissue expression
- 26 nTPM
Expression across tissuesHPA
Tissue
- retina: 26 nTPM
- testis: 19 nTPM
- choroid plexus: 18 nTPM
- fallopian tube: 16 nTPM
- colon: 15 nTPM
- bone marrow: 15 nTPM
Single-cell type
- choroid plexus epithelial cells: 119 nCPM
- megakaryocytes: 99 nCPM
- ependymal cells: 80 nCPM
- respiratory ciliated cells: 75 nCPM
- pituitary stem cells: 69 nCPM
- late primary spermatocytes: 67 nCPM
Immune cell
- non-classical monocyte: 18 nTPM
- eosinophil: 14 nTPM
- intermediate monocyte: 11 nTPM
- basophil: 9.7 nTPM
- MAIT T-cell: 7.2 nTPM
- memory B-cell: 6.8 nTPM
Brain region
- choroid plexus: 26 nTPM
- spinal cord: 18 nTPM
- midbrain: 18 nTPM
- medulla oblongata: 17 nTPM
- white matter: 15 nTPM
- hypothalamus: 14 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)
- 0.89
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.15
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Nuclear protein MDM1
- Nuclear protein MDM1
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MDM1 as an antibody target. Whether an autoantibody or antibody against MDM1 could matter depends on whether native MDM1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MDM1 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 MDM1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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