Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Multivesicular body subunit 12A

Gene

MVB12A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in the ligand-mediated internalization and down-regulation of EGF receptor.1 Publication

GO - Molecular functioni

  • lipid binding Source: UniProtKB
  • SH3 domain binding Source: UniProtKB-KW
  • ubiquitin binding Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-162588 Budding and maturation of HIV virion
R-HSA-174490 Membrane binding and targetting of GAG proteins
R-HSA-917729 Endosomal Sorting Complex Required For Transport (ESCRT)

Names & Taxonomyi

Protein namesi
Recommended name:
Multivesicular body subunit 12A
Alternative name(s):
CIN85/CD2AP family-binding protein
ESCRT-I complex subunit MVB12A
Protein FAM125A
Gene namesi
Name:MVB12A
Synonyms:CFBP, FAM125A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000141971.12
HGNCiHGNC:25153 MVB12A
neXtProtiNX_Q96EY5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Endosome, Membrane, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi204Y → D: Mimics constitutively phosphorylated form and has the ability to interact with CD2AP and CIN85/SH3KBP1 without EGF treatment. 1 Publication1
Mutagenesisi204Y → F: Abolishes interaction with CD2AP and CIN85/SH3KBP1. 1 Publication1

Organism-specific databases

OpenTargetsiENSG00000141971
PharmGKBiPA162385826

Polymorphism and mutation databases

BioMutaiMVB12A
DMDMi74731632

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002490691 – 273Multivesicular body subunit 12AAdd BLAST273

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei130Phosphothreonine1 Publication1
Modified residuei163Phosphoserine1 Publication1
Modified residuei170PhosphoserineCombined sources1 Publication1
Modified residuei195PhosphoserineCombined sources1
Modified residuei202PhosphoserineCombined sources1
Modified residuei204Phosphotyrosine1 Publication1
Modified residuei207Phosphoserine1 Publication1
Modified residuei232Phosphoserine1 Publication1

Post-translational modificationi

Phosphorylated on Tyr-204 upon EGF stimulation. Phosphorylation is required for interaction with CD2AP and CIN85/SH3KBP1.2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96EY5
MaxQBiQ96EY5
PaxDbiQ96EY5
PeptideAtlasiQ96EY5
PRIDEiQ96EY5
ProteomicsDBi76469
76470 [Q96EY5-2]
76471 [Q96EY5-3]

PTM databases

iPTMnetiQ96EY5
PhosphoSitePlusiQ96EY5

Miscellaneous databases

PMAP-CutDBiQ96EY5

Expressioni

Tissue specificityi

Ubiquitously expressed except in skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000141971 Expressed in 163 organ(s), highest expression level in right ovary
CleanExiHS_FAM125A
ExpressionAtlasiQ96EY5 baseline and differential
GenevisibleiQ96EY5 HS

Organism-specific databases

HPAiHPA041885
HPA042231

Interactioni

Subunit structurei

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 stoichiometry. Interacts with CD2AP and CIN85/SH3KBP1. Interacts with CD2AP (via one of the SH3 domains). 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. Interacts with VPS37D; the association appears to be mediated by the TSG101-VPS37 binary subcomplex. Interacts with CEP55.3 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi125018, 30 interactors
IntActiQ96EY5, 12 interactors
STRINGi9606.ENSP00000324810

Structurei

3D structure databases

ProteinModelPortaliQ96EY5
SMRiQ96EY5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini9 – 151MABPPROSITE-ProRule annotationAdd BLAST143
Domaini215 – 265UMAPROSITE-ProRule annotationAdd BLAST51

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni192 – 273Interaction with TSG101, VPS37B and VPS281 PublicationAdd BLAST82

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi155 – 160SH3-binding6

Sequence similaritiesi

Belongs to the MVB12 family.Curated

Keywords - Domaini

SH3-binding

Phylogenomic databases

eggNOGiKOG4000 Eukaryota
ENOG4110KHY LUCA
GeneTreeiENSGT00530000063575
HOGENOMiHOG000231822
HOVERGENiHBG055538
InParanoidiQ96EY5
KOiK12186
OMAiFEGKSCG
OrthoDBiEOG091G0ELJ
PhylomeDBiQ96EY5
TreeFamiTF314477

Family and domain databases

InterProiView protein in InterPro
IPR023341 MABP
IPR018798 MVB12A/B
IPR023340 UMA
PfamiView protein in Pfam
PF10240 DUF2464, 1 hit
PROSITEiView protein in PROSITE
PS51498 MABP, 1 hit
PS51497 UMA, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96EY5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MDPVPGTDSA PLAGLAWSSA SAPPPRGFSA ISCTVEGAPA SFGKSFAQKS
60 70 80 90 100
GYFLCLSSLG SLENPQENVV ADIQIVVDKS PLPLGFSPVC DPMDSKASVS
110 120 130 140 150
KKKRMCVKLL PLGATDTAVF DVRLSGKTKT VPGYLRIGDM GGFAIWCKKA
160 170 180 190 200
KAPRPVPKPR GLSRDMQGLS LDAASQPSKG GLLERTASRL GSRASTLRRN
210 220 230 240 250
DSIYEASSLY GISAMDGVPF TLHPRFEGKS CSPLAFSAFG DLTIKSLADI
260 270
EEEYNYGFVV EKTAAARLPP SVS
Length:273
Mass (Da):28,783
Last modified:December 1, 2001 - v1
Checksum:i7C765A0E96DC0F45
GO
Isoform 2 (identifier: Q96EY5-2) [UniParc]FASTAAdd to basket
Also known as: Delta 5

The sequence of this isoform differs from the canonical sequence as follows:
     139-178: Missing.

Note: Does not interact with CD2AP.
Show »
Length:233
Mass (Da):24,532
Checksum:iE5E04F5CFBC399C4
GO
Isoform 3 (identifier: Q96EY5-3) [UniParc]FASTAAdd to basket
Also known as: Delta 8

The sequence of this isoform differs from the canonical sequence as follows:
     238-253: Missing.

Show »
Length:257
Mass (Da):27,050
Checksum:iCE551F6F2AA734C9
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PQA6E9PQA6_HUMAN
Multivesicular body subunit 12A
MVB12A
273Annotation score:
E9PLL0E9PLL0_HUMAN
Multivesicular body subunit 12A
MVB12A
121Annotation score:
E9PJW8E9PJW8_HUMAN
Multivesicular body subunit 12A
MVB12A
199Annotation score:
M0QZK6M0QZK6_HUMAN
Multivesicular body subunit 12A
MVB12A
122Annotation score:
E9PLZ8E9PLZ8_HUMAN
Multivesicular body subunit 12A
MVB12A
133Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049018106C → Y. Corresponds to variant dbSNP:rs34949802Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_020629139 – 178Missing in isoform 2. CuratedAdd BLAST40
Alternative sequenceiVSP_020630238 – 253Missing in isoform 3. CuratedAdd BLAST16

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC007883 mRNA Translation: AAH07883.2
BC011840 mRNA Translation: AAH11840.1
CCDSiCCDS12359.1 [Q96EY5-1]
RefSeqiNP_612410.1, NM_138401.3 [Q96EY5-1]
UniGeneiHs.515243

Genome annotation databases

EnsembliENST00000317040; ENSP00000324810; ENSG00000141971 [Q96EY5-1]
ENST00000543795; ENSP00000444653; ENSG00000141971 [Q96EY5-1]
GeneIDi93343
KEGGihsa:93343
UCSCiuc002ngo.2 human [Q96EY5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC007883 mRNA Translation: AAH07883.2
BC011840 mRNA Translation: AAH11840.1
CCDSiCCDS12359.1 [Q96EY5-1]
RefSeqiNP_612410.1, NM_138401.3 [Q96EY5-1]
UniGeneiHs.515243

3D structure databases

ProteinModelPortaliQ96EY5
SMRiQ96EY5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125018, 30 interactors
IntActiQ96EY5, 12 interactors
STRINGi9606.ENSP00000324810

PTM databases

iPTMnetiQ96EY5
PhosphoSitePlusiQ96EY5

Polymorphism and mutation databases

BioMutaiMVB12A
DMDMi74731632

Proteomic databases

EPDiQ96EY5
MaxQBiQ96EY5
PaxDbiQ96EY5
PeptideAtlasiQ96EY5
PRIDEiQ96EY5
ProteomicsDBi76469
76470 [Q96EY5-2]
76471 [Q96EY5-3]

Protocols and materials databases

DNASUi93343
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317040; ENSP00000324810; ENSG00000141971 [Q96EY5-1]
ENST00000543795; ENSP00000444653; ENSG00000141971 [Q96EY5-1]
GeneIDi93343
KEGGihsa:93343
UCSCiuc002ngo.2 human [Q96EY5-1]

Organism-specific databases

CTDi93343
EuPathDBiHostDB:ENSG00000141971.12
GeneCardsiMVB12A
HGNCiHGNC:25153 MVB12A
HPAiHPA041885
HPA042231
neXtProtiNX_Q96EY5
OpenTargetsiENSG00000141971
PharmGKBiPA162385826
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4000 Eukaryota
ENOG4110KHY LUCA
GeneTreeiENSGT00530000063575
HOGENOMiHOG000231822
HOVERGENiHBG055538
InParanoidiQ96EY5
KOiK12186
OMAiFEGKSCG
OrthoDBiEOG091G0ELJ
PhylomeDBiQ96EY5
TreeFamiTF314477

Enzyme and pathway databases

ReactomeiR-HSA-162588 Budding and maturation of HIV virion
R-HSA-174490 Membrane binding and targetting of GAG proteins
R-HSA-917729 Endosomal Sorting Complex Required For Transport (ESCRT)

Miscellaneous databases

ChiTaRSiMVB12A human
GenomeRNAii93343
PMAP-CutDBiQ96EY5
PROiPR:Q96EY5

Gene expression databases

BgeeiENSG00000141971 Expressed in 163 organ(s), highest expression level in right ovary
CleanExiHS_FAM125A
ExpressionAtlasiQ96EY5 baseline and differential
GenevisibleiQ96EY5 HS

Family and domain databases

InterProiView protein in InterPro
IPR023341 MABP
IPR018798 MVB12A/B
IPR023340 UMA
PfamiView protein in Pfam
PF10240 DUF2464, 1 hit
PROSITEiView protein in PROSITE
PS51498 MABP, 1 hit
PS51497 UMA, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMB12A_HUMAN
AccessioniPrimary (citable) accession number: Q96EY5
Secondary accession number(s): Q96I18
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: December 1, 2001
Last modified: September 12, 2018
This is version 132 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again