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    FAM125A family with sequence similarity 125, member A [ Homo sapiens ]

    Gene ID: 93343, updated on 11-May-2012
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    Summary

    Official Symbol
    FAM125Aprovided by HGNC
    Official Full Name
    family with sequence similarity 125, member Aprovided by HGNC
    Primary source
    HGNC:25153
    See related
    Ensembl:ENSG00000141971; HPRD:14298; Vega:OTTHUMG00000166252
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CFBP; FLJ32495
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    Genomic context

    Location :
    19p13.11
    Sequence :
    Chromosome: 19; NC_000019.9 (17530912..17536140)
    See FAM125A in Epigenomics, MapViewer

    Chromosome 19 - NC_000019.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100507535 Neighboring gene bone marrow stromal cell antigen 2 Neighboring gene high mobility group box 3 pseudogene 29 Neighboring gene transmembrane protein 221 Neighboring gene nucleoredoxin-like 1

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    2. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    3. Distinct functions of human MVB12A and MVB12B in the ESCRT-I dependent on their posttranslational modifications. Tsunematsu T, et al. Biochem Biophys Res Commun, 2010 Aug 20. PMID 20654576.
    4. CFBP is a novel tyrosine-phosphorylated protein that might function as a regulator of CIN85/CD2AP. Konishi H, et al. J Biol Chem, 2006 Sep 29. PMID 16895919.
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334.

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. These results suggest that the expression of MVB12B may be normally suppressed through the ubiquitin-proteasome pathway that simultaneously regulates the fate of MVB12A and the functions of ESCRT-I.
      Title: Distinct functions of human MVB12A and MVB12B in the ESCRT-I dependent on their posttranslational modifications.
    2. CFBP is a novel tyrosine-phosphorylated protein that might function as a regulator of CIN85/CD2AP
      Title: CFBP is a novel tyrosine-phosphorylated protein that might function as a regulator of CIN85/CD2AP.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q96EY5 Q9Y5K6 CD2AP    HPRD  PubMed  
    Q96EY5 Q96B97 SH3KBP1    HPRD  PubMed  
    BioGRID:125018 BioGRID:117140 CD2AP    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:125018 BioGRID:124621 FAM125B    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:125018 BioGRID:119029 SH3KBP1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:125018 BioGRID:113102 TSG101    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:125018 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 
    BioGRID:125018 BioGRID:126479 VPS37A    BioGRID  PubMed Affinity Capture-Western 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • ESCRT-I complex, organism-specific biosystem (from KEGG)
      ESCRT-I complex, organism-specific biosystemStructural complex; Genetic information processing; Protein processing
    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    microtubule organizing center IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    multivesicular body subunit 12A
    Names
    multivesicular body subunit 12A
    ESCRT-I complex subunit MVB12A
    CIN85/CD2AP family binding protein
    CIN85/CD2AP family-binding protein
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_138401.2 → NP_612410.1  multivesicular body subunit 12A

      Status: PROVISIONAL

      Source sequence(s)
      BC011840
      Consensus CDS
      CCDS12359.1
      UniProtKB/Swiss-Prot
      Q96EY5
      Related
      ENSP00000324810, OTTHUMP00000232348, ENST00000317040, OTTHUMT00000388723
      Conserved Domains (1) summary
      pfam10240
      Location:10 – 261
      Blast Score: 798
      DUF2464; Protein of unknown function (DUF2464)

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000019.9 Reference GRCh37.p5 Primary Assembly

      Range
      17530912..17536140
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000151.1 Alternate HuRef

      Range
      17096852..17102055
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC010319.10 (66257..71485) None
    genomic CH471106.1 EAW84604.1
      EAW84605.1
    mRNA AK057057.1 None
    mRNA AK289487.1 BAF82176.1
    mRNA BC007883.2 AAH07883.2
    mRNA BC011840.2 AAH11840.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96EY5.1 GenPept UniProtKB/Swiss-Prot:Q96EY5
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
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    Tools
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