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Q96EY5

- MB12A_HUMAN

UniProt

Q96EY5 - MB12A_HUMAN

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Protein
Multivesicular body subunit 12A
Gene
MVB12A, CFBP, FAM125A
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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

  1. lipid binding Source: UniProt
  2. protein binding Source: UniProt
  3. ubiquitin binding Source: UniProt

GO - Biological processi

  1. protein transport Source: UniProtKB-KW
  2. regulation of epidermal growth factor receptor signaling pathway Source: UniProt
  3. ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway Source: UniProt
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

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
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:25153. MVB12A.

Subcellular locationi

Cytoplasm. Nucleus. Endosome. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Late endosome membrane; Peripheral membrane protein Inferred
Note: Colocalizes with F-actin. Some fraction may be nuclear.2 Publications

GO - Cellular componenti

  1. ESCRT I complex Source: UniProt
  2. aggresome Source: HPA
  3. cytoplasm Source: HPA
  4. cytosol Source: UniProt
  5. extracellular vesicular exosome Source: UniProt
  6. intracellular membrane-bounded organelle Source: HPA
  7. late endosome membrane Source: UniProtKB-SubCell
  8. microtubule organizing center Source: UniProtKB-SubCell
  9. nucleus Source: HPA
  10. vesicle Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Endosome, Membrane, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi204 – 2041Y → D: Mimics constitutively phosphorylated form and has the ability to interact with CD2AP and CIN85/SH3KBP1 without EGF treatment. 1 Publication
Mutagenesisi204 – 2041Y → F: Abolishes interaction with CD2AP and CIN85/SH3KBP1. 1 Publication

Organism-specific databases

PharmGKBiPA162385826.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 273273Multivesicular body subunit 12A
PRO_0000249069Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei130 – 1301Phosphothreonine1 Publication
Modified residuei163 – 1631Phosphoserine1 Publication
Modified residuei170 – 1701Phosphoserine4 Publications
Modified residuei202 – 2021Phosphoserine1 Publication
Modified residuei204 – 2041Phosphotyrosine1 Publication
Modified residuei207 – 2071Phosphoserine1 Publication
Modified residuei232 – 2321Phosphoserine1 Publication

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

MaxQBiQ96EY5.
PaxDbiQ96EY5.
PRIDEiQ96EY5.

PTM databases

PhosphoSiteiQ96EY5.

Miscellaneous databases

PMAP-CutDBQ96EY5.

Expressioni

Tissue specificityi

Ubiquitously expressed except in skeletal muscle.1 Publication

Gene expression databases

ArrayExpressiQ96EY5.
BgeeiQ96EY5.
CleanExiHS_FAM125A.
GenevestigatoriQ96EY5.

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 stoechiometry. 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

Protein-protein interaction databases

BioGridi125018. 10 interactions.
IntActiQ96EY5. 1 interaction.
STRINGi9606.ENSP00000324810.

Structurei

3D structure databases

ProteinModelPortaliQ96EY5.
SMRiQ96EY5. Positions 11-146.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini9 – 151143MABP
Add
BLAST
Domaini215 – 26551UMA
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni192 – 27382Interaction with TSG101, VPS37B and VPS28
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi155 – 1606SH3-binding

Sequence similaritiesi

Belongs to the MVB12 family.
Contains 1 MABP domain.
Contains 1 UMA domain.

Keywords - Domaini

SH3-binding

Phylogenomic databases

eggNOGiNOG301965.
HOGENOMiHOG000231822.
HOVERGENiHBG055538.
InParanoidiQ96EY5.
KOiK12186.
OMAiIENEYNY.
OrthoDBiEOG7K3TMB.
PhylomeDBiQ96EY5.
TreeFamiTF314477.

Family and domain databases

InterProiIPR018798. FAM125.
IPR023341. MABP.
IPR023340. UMA.
[Graphical view]
PfamiPF10240. DUF2464. 1 hit.
[Graphical view]
PROSITEiPS51498. MABP. 1 hit.
PS51497. UMA. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

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

MDPVPGTDSA PLAGLAWSSA SAPPPRGFSA ISCTVEGAPA SFGKSFAQKS    50
GYFLCLSSLG SLENPQENVV ADIQIVVDKS PLPLGFSPVC DPMDSKASVS 100
KKKRMCVKLL PLGATDTAVF DVRLSGKTKT VPGYLRIGDM GGFAIWCKKA 150
KAPRPVPKPR GLSRDMQGLS LDAASQPSKG GLLERTASRL GSRASTLRRN 200
DSIYEASSLY GISAMDGVPF TLHPRFEGKS CSPLAFSAFG DLTIKSLADI 250
EEEYNYGFVV EKTAAARLPP SVS 273
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti106 – 1061C → Y.
Corresponds to variant rs34949802 [ dbSNP | Ensembl ].
VAR_049018

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei139 – 17840Missing in isoform 2.
VSP_020629Add
BLAST
Alternative sequencei238 – 25316Missing in isoform 3.
VSP_020630Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
BC007883 mRNA. Translation: AAH07883.2.
BC011840 mRNA. Translation: AAH11840.1.
CCDSiCCDS12359.1. [Q96EY5-1]
RefSeqiNP_612410.1. NM_138401.2. [Q96EY5-1]
UniGeneiHs.515243.

Genome annotation databases

EnsembliENST00000317040; ENSP00000324810; ENSG00000141971. [Q96EY5-1]
ENST00000392702; ENSP00000376466; ENSG00000141971. [Q96EY5-2]
ENST00000543795; ENSP00000444653; ENSG00000141971. [Q96EY5-1]
GeneIDi93343.
KEGGihsa:93343.
UCSCiuc002ngo.1. human. [Q96EY5-1]

Polymorphism databases

DMDMi74731632.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
BC007883 mRNA. Translation: AAH07883.2 .
BC011840 mRNA. Translation: AAH11840.1 .
CCDSi CCDS12359.1. [Q96EY5-1 ]
RefSeqi NP_612410.1. NM_138401.2. [Q96EY5-1 ]
UniGenei Hs.515243.

3D structure databases

ProteinModelPortali Q96EY5.
SMRi Q96EY5. Positions 11-146.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125018. 10 interactions.
IntActi Q96EY5. 1 interaction.
STRINGi 9606.ENSP00000324810.

PTM databases

PhosphoSitei Q96EY5.

Polymorphism databases

DMDMi 74731632.

Proteomic databases

MaxQBi Q96EY5.
PaxDbi Q96EY5.
PRIDEi Q96EY5.

Protocols and materials databases

DNASUi 93343.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000317040 ; ENSP00000324810 ; ENSG00000141971 . [Q96EY5-1 ]
ENST00000392702 ; ENSP00000376466 ; ENSG00000141971 . [Q96EY5-2 ]
ENST00000543795 ; ENSP00000444653 ; ENSG00000141971 . [Q96EY5-1 ]
GeneIDi 93343.
KEGGi hsa:93343.
UCSCi uc002ngo.1. human. [Q96EY5-1 ]

Organism-specific databases

CTDi 93343.
GeneCardsi GC19P017605.
HGNCi HGNC:25153. MVB12A.
HPAi HPA041885.
HPA042231.
neXtProti NX_Q96EY5.
PharmGKBi PA162385826.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG301965.
HOGENOMi HOG000231822.
HOVERGENi HBG055538.
InParanoidi Q96EY5.
KOi K12186.
OMAi IENEYNY.
OrthoDBi EOG7K3TMB.
PhylomeDBi Q96EY5.
TreeFami TF314477.

Miscellaneous databases

ChiTaRSi FAM125A. human.
GenomeRNAii 93343.
NextBioi 78049.
PMAP-CutDB Q96EY5.
PROi Q96EY5.

Gene expression databases

ArrayExpressi Q96EY5.
Bgeei Q96EY5.
CleanExi HS_FAM125A.
Genevestigatori Q96EY5.

Family and domain databases

InterProi IPR018798. FAM125.
IPR023341. MABP.
IPR023340. UMA.
[Graphical view ]
Pfami PF10240. DUF2464. 1 hit.
[Graphical view ]
PROSITEi PS51498. MABP. 1 hit.
PS51497. UMA. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Pancreas and Uterus.
  2. "CFBP is a novel tyrosine-phosphorylated protein that might function as a regulator of CIN85/CD2AP."
    Konishi H., Tashiro K., Murata Y., Nabeshi H., Yamauchi E., Taniguchi H.
    J. Biol. Chem. 281:28919-28931(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY, FUNCTION, ALTERNATIVE SPLICING (ISOFORMS 1; 2 AND 3), SUBCELLULAR LOCATION, PHOSPHORYLATION AT TYR-204, TISSUE SPECIFICITY, INTERACTION WITH CD2AP AND SH3KBP1, MUTAGENESIS OF TYR-204.
  3. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
    Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
    Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  4. "Identification of human MVB12 proteins as ESCRT-I subunits that function in HIV budding."
    Morita E., Sandrin V., Alam S.L., Eckert D.M., Gygi S.P., Sundquist W.I.
    Cell Host Microbe 2:41-53(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TSG101; VPS28; VPS37B; VPS37C AND VPS37D, IDENTIFICATION IN THE ESCRT-I COMPLEX, RECONSTITUTION OF THE ESCRT-I COMPLEX, SUBCELLULAR LOCATION, PHOSPHORYLATION AT THR-130; SER-163; SER-170; SER-207 AND SER-232, IDENTIFICATION BY MASS SPECTROMETRY.
  5. "Human ESCRT and ALIX proteins interact with proteins of the midbody and function in cytokinesis."
    Morita E., Sandrin V., Chung H.Y., Morham S.G., Gygi S.P., Rodesch C.K., Sundquist W.I.
    EMBO J. 26:4215-4227(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH CEP55.
  6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-170, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-170, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  8. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-170 AND SER-202, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiMB12A_HUMAN
AccessioniPrimary (citable) accession number: Q96EY5
Secondary accession number(s): Q96I18
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: December 1, 2001
Last modified: July 9, 2014
This is version 95 of the entry and version 1 of the sequence. [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. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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