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Aliases for MVB12B Gene

Aliases for MVB12B Gene

  • Multivesicular Body Subunit 12B 2 3
  • Family With Sequence Similarity 125, Member B 2 3
  • ESCRT-I Complex Subunit MVB12B 3 4
  • C9orf28 3 4
  • FAM125B 3 4
  • Chromosome 9 Open Reading Frame 28 2
  • Protein FAM125B 4

External Ids for MVB12B Gene

Previous HGNC Symbols for MVB12B Gene

  • C9orf28
  • FAM125B

Previous GeneCards Identifiers for MVB12B Gene

  • GC09P129091

Summaries for MVB12B Gene

Entrez Gene Summary for MVB12B 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]

GeneCards Summary for MVB12B Gene

MVB12B (Multivesicular Body Subunit 12B) is a Protein Coding gene. Diseases associated with MVB12B include hiv-1. Among its related pathways are Endocytosis. An important paralog of this gene is MVB12A.

UniProtKB/Swiss-Prot for MVB12B Gene

  • Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MVB12B Gene

Genomics for MVB12B Gene

Genomic Location for MVB12B Gene

Start:
126,326,844 bp from pter
End:
126,507,041 bp from pter
Size:
180,198 bases
Orientation:
Plus strand

Genomic View for MVB12B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MVB12B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MVB12B Gene

No data available for Regulatory Elements for MVB12B Gene

Proteins for MVB12B Gene

  • Protein details for MVB12B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H7P6-MB12B_HUMAN
    Recommended name:
    Multivesicular body subunit 12B
    Protein Accession:
    Q9H7P6
    Secondary Accessions:
    • Q8N6S7

    Protein attributes for MVB12B Gene

    Size:
    319 amino acids
    Molecular mass:
    35620 Da
    Quaternary structure:
    • Component of the ESCRT-I complex (endosomal sorting complex required for transport I) which consists of TSG101, VPS28, a VPS37 protein (VPS37A to -D) and MVB12A or MVB12B in a 1:1:1:1 stoechiometry. Interacts with TSG101; the association appears to be mediated by the TSG101-VPS37 binary subcomplex. Interacts with VPS28. Interacts with VPS37B; the association appears to be mediated by the TSG101-VPS37 binary subcomplex. Interacts with VPS37C; the association appears to be mediated by the TSG101-VPS37 binary subcomplex.
    SequenceCaution:
    • Sequence=BAB15722.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MVB12B Gene

    Alternative splice isoforms for MVB12B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MVB12B Gene

Proteomics data for MVB12B Gene at MOPED

Post-translational modifications for MVB12B Gene

  • Ubiquitination at Lys115
  • Modification sites at PhosphoSitePlus

Other Protein References for MVB12B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MVB12B Gene

Domains for MVB12B Gene

Protein Domains for MVB12B Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9H7P6

UniProtKB/Swiss-Prot:

MB12B_HUMAN :
  • Q9H7P6
Domain:
  • Contains 1 MABP domain.
  • Contains 1 UMA domain.
Family:
  • Belongs to the MVB12 family.
genes like me logo Genes that share domains with MVB12B: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for MVB12B Gene

Function for MVB12B Gene

Molecular function for MVB12B Gene

UniProtKB/Swiss-Prot Function: Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies

Gene Ontology (GO) - Molecular Function for MVB12B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18005716
GO:0008289 lipid binding IMP 22232651
GO:0043130 NOT ubiquitin binding IDA 20654576
genes like me logo Genes that share ontologies with MVB12B: view

Phenotypes for MVB12B Gene

GenomeRNAi human phenotypes for MVB12B:
genes like me logo Genes that share phenotypes with MVB12B: view

miRNA for MVB12B Gene

miRTarBase miRNAs that target MVB12B

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for MVB12B Gene

Localization for MVB12B Gene

Subcellular locations from UniProtKB/Swiss-Prot for MVB12B Gene

Endosome. Late endosome membrane; Peripheral membrane protein.

Gene Ontology (GO) - Cellular Components for MVB12B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000813 ESCRT I complex IDA 18005716
GO:0005634 nucleus IDA 22232651
GO:0005769 early endosome IDA 22232651
GO:0005770 late endosome IDA 22232651
GO:0005829 cytosol IDA 22232651
genes like me logo Genes that share ontologies with MVB12B: view

No data available for Subcellular locations from COMPARTMENTS for MVB12B Gene

Pathways for MVB12B Gene

SuperPathways for MVB12B Gene

Superpath Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with MVB12B: view

Pathways by source for MVB12B Gene

1 KEGG pathway for MVB12B Gene

Gene Ontology (GO) - Biological Process for MVB12B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:0019075 virus maturation IMP 18005716
GO:0042058 regulation of epidermal growth factor receptor signaling pathway IMP 20654576
GO:0043162 ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway IC 20654576
GO:0048524 positive regulation of viral process IMP 18005716
genes like me logo Genes that share ontologies with MVB12B: view

Transcripts for MVB12B Gene

Unigene Clusters for MVB12B Gene

Multivesicular body subunit 12B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MVB12B Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b
SP1: - - - - - -
SP2: -
SP3: - - -
SP4: - - - - -
SP5:
SP6:
SP7:

Relevant External Links for MVB12B Gene

GeneLoc Exon Structure for
MVB12B
ECgene alternative splicing isoforms for
MVB12B

Expression for MVB12B Gene

mRNA expression in normal human tissues for MVB12B Gene

mRNA differential expression in normal tissues according to GTEx for MVB12B Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (8.1) and Brain - Substantia nigra (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MVB12B Gene

SOURCE GeneReport for Unigene cluster for MVB12B Gene Hs.162659

genes like me logo Genes that share expressions with MVB12B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for MVB12B Gene

Orthologs for MVB12B Gene

This gene was present in the common ancestor of animals.

Orthologs for MVB12B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MVB12B 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MVB12B 35
  • 92.58 (n)
  • 98.29 (a)
dog
(Canis familiaris)
Mammalia FAM125B 35
  • 94.18 (n)
  • 99.32 (a)
MVB12B 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mvb12b 35
  • 89.17 (n)
  • 96.53 (a)
Mvb12b 16
Mvb12b 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MVB12B 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MVB12B 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mvb12b 35
  • 89.8 (n)
  • 96.85 (a)
chicken
(Gallus gallus)
Aves FAM125B 35
  • 79.67 (n)
  • 86.76 (a)
FAM125B 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MVB12B 36
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.32390 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.19086 35
zebrafish
(Danio rerio)
Actinopterygii mvb12ba 35
  • 72.62 (n)
  • 82.86 (a)
mvb12ba 36
  • 93 (a)
OneToMany
mvb12bb 36
  • 45 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7192 36
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mvb-12 35
  • 42.95 (n)
  • 30.43 (a)
mvb-12 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10662 36
  • 30 (a)
OneToMany
Species with no ortholog for MVB12B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MVB12B Gene

ENSEMBL:
Gene Tree for MVB12B (if available)
TreeFam:
Gene Tree for MVB12B (if available)

Paralogs for MVB12B Gene

Paralogs for MVB12B Gene

Selected SIMAP similar genes for MVB12B Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with MVB12B: view

Variants for MVB12B Gene

Sequence variations from dbSNP and Humsavar for MVB12B Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs477463 -- 126,362,719(-) ATAGT(C/T)TGTAC intron-variant
rs477619 -- 126,356,103(-) TAAAA(C/T)ATATT intron-variant
rs479398 -- 126,346,447(-) GAGAA(C/G)CCCAG intron-variant
rs489227 -- 126,361,750(+) GTTGC(G/T)ACaaa intron-variant
rs492663 -- 126,326,228(-) CACCT(A/G)AGGTG upstream-variant-2KB

Relevant External Links for MVB12B Gene

HapMap Linkage Disequilibrium report
MVB12B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MVB12B Gene

Disorders for MVB12B Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for MVB12B Gene including...

Search for MVB12B Gene in MalaCards »
genes like me logo Genes that share disorders with MVB12B: view

No data available for UniProtKB/Swiss-Prot for MVB12B Gene

Publications for MVB12B Gene

  1. Identification of human MVB12 proteins as ESCRT-I subunits that function in HIV budding. (PMID: 18005716) Morita E. … Sundquist W.I. (Cell Host Microbe 2007) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Distinct functions of human MVB12A and MVB12B in the ESCRT-I dependent on their posttranslational modifications. (PMID: 20654576) Tsunematsu T. … Konishi H. (Biochem. Biophys. Res. Commun. 2010) 2 3
  5. Structural basis for membrane targeting by the MVB12-associated I^-prism domain of the human ESCRT-I MVB12 subunit. (PMID: 22232651) Boura E. … Hurley J.H. (Proc. Natl. Acad. Sci. U.S.A. 2012) 2 3

Products for MVB12B Gene

Sources for MVB12B Gene

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