Human Gene MVB12A (ENST00000528515.5) Description and Page Index
  Description: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt E9PJW8)
Gencode Transcript: ENST00000528515.5
Gencode Gene: ENSG00000141971.13
Transcript (Including UTRs)
   Position: hg38 chr19:17,420,082-17,424,677 Size: 4,596 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg38 chr19:17,420,136-17,424,645 Size: 4,510 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr19:17,420,082-17,424,677)mRNA (may differ from genome)Protein (199 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
PubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: SubName: Full=Multivesicular body subunit 12A;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 20.42 RPKM in Ovary
Total median expression: 451.03 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -17.6054-0.326 Picture PostScript Text
3' UTR -7.5032-0.234 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR018798 - FAM125
IPR023341 - MABP

Pfam Domains:
PF10240 - Multivesicular body subunit 12

ModBase Predicted Comparative 3D Structure on E9PJW8
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0000813 ESCRT I complex

-  Descriptions from all associated GenBank mRNAs
  KM576726 - Homo sapiens clone AK311380-MVB12A_A1intraspliced-A2-M2 mRNA sequence.
KM576727 - Homo sapiens clone AK311380-MVB12A_A2-M2 mRNA sequence.
AK057057 - Homo sapiens cDNA FLJ32495 fis, clone SKNSH2000163.
AK289487 - Homo sapiens cDNA FLJ75950 complete cds.
BC011840 - Homo sapiens family with sequence similarity 125, member A, mRNA (cDNA clone MGC:20500 IMAGE:4053084), complete cds.
BC007883 - Homo sapiens family with sequence similarity 125, member A, mRNA (cDNA clone MGC:14131 IMAGE:3688605), complete cds.
JD462015 - Sequence 443039 from Patent EP1572962.
KJ895205 - Synthetic construct Homo sapiens clone ccsbBroadEn_04599 FAM125A gene, encodes complete protein.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04144 - Endocytosis

-  Other Names for This Gene
  Alternate Gene Symbols: AK289487, E9PJW8, E9PJW8_HUMAN, FAM125A, uc060vjb.1
UCSC ID: uc060vjb.1
RefSeq Accession: NM_138401
Protein: E9PJW8

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.