MVB12B
Multivesicular body subunit 12B
Also known as: C9orf28, FAM125B, FLJ00001, MB12B_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H7P6
- Gene
- MVB12B
- Ensembl
- ENSG00000196814
- Chromosome
- 9
- Canonical length
- 319 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Golgi apparatus,Vesicles
OverviewNCBI Gene
The protein encoded by this gene is a component of the ESCRT-I complex, a heterotetramer, which mediates the sorting of ubiquitinated cargo protein from the plasma membrane to the endosomal vesicle. ESCRT-I complex plays an essential role in HIV budding and endosomal protein sorting. Depletion and overexpression of this and related protein (MVB12A) inhibit HIV-1 infectivity and induce unusual viral assembly defects, indicating a role for MVB12 subunits in regulating ESCRT-mediated virus budding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Canonical amino-acid sequenceUniProt
319 residues, UniProt reviewed canonical sequence.
>Q9H7P6|MVB12B
1 MRSCFCVRRS RDPPPPQPPP PPPQRGTDQS TMPEVKDLSE ALPETSMDPI TGVGVVASRN
61 RAPTGYDVVA QTADGVDADL WKDGLFKSKV TRYLCFTRSF SKENSHLGNV LVDMKLIDIK
121 DTLPVGFIPI QETVDTQEVA FRKKRLCIKF IPRDSTEAAI CDIRIMGRTK QAPPQYTFIG
181 ELNSMGIWYR MGRVPRNHDS SQPTTPSQSS AASTPAPNLP RHISLTLPAT FRGRNSTRTD
241 YEYQHSNLYA ISAMDGVPFM ISEKFSCVPE SMQPFDLLGI TIKSLAEIEK EYEYSFRTEQ
301 SAAARLPPSP TRCQQIPQSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MVB12B 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
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.49
- Highest tissue expression
- 111 nTPM
Expression across tissuesHPA
Tissue
- spinal cord: 111 nTPM
- midbrain: 45 nTPM
- hippocampal formation: 36 nTPM
- basal ganglia: 26 nTPM
- hypothalamus: 25 nTPM
- amygdala: 24 nTPM
Single-cell type
- oligodendrocytes: 603 nCPM
- choroid plexus epithelial cells: 438 nCPM
- renal collecting duct intercalated cells: 265 nCPM
- microglia: 262 nCPM
- ependymal cells: 226 nCPM
- kupffer cells: 184 nCPM
Immune cell
- MAIT T-cell: 2.6 nTPM
- memory CD8 T-cell: 2.3 nTPM
- gdT-cell: 1.4 nTPM
- myeloid DC: 1 nTPM
- naive CD8 T-cell: 1 nTPM
- total PBMC: 0.9 nTPM
Brain region
- white matter: 205 nTPM
- medulla oblongata: 177 nTPM
- pons: 143 nTPM
- basal ganglia: 136 nTPM
- midbrain: 130 nTPM
- cerebellum: 129 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)
- 0.46
- gnomAD pLI
- 0.56
- gnomAD missense Z
- 1.67
- DepMap mean gene effect
- 0.07
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- membrane fission
- multivesicular body assembly
- protein transport
- protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway
- regulation of epidermal growth factor receptor signaling pathway
- ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway
- viral budding
- virus maturation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- UMA domain
- MABP domain
- MABP domain
- Multivesicular body subunit 12B
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MVB12B 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 MVB12B as an antibody target. Whether an autoantibody or antibody against MVB12B could matter depends on whether native MVB12B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MVB12B 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 MVB12B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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