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    MBP myelin basic protein [ Homo sapiens (human) ]

    Gene ID: 4155, updated on 8-Apr-2018
    Official Symbol
    MBPprovided by HGNC
    Official Full Name
    myelin basic proteinprovided by HGNC
    Primary source
    HGNC:HGNC:6925
    See related
    Ensembl:ENSG00000197971 MIM:159430; Vega:OTTHUMG00000132874
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    The protein encoded by the classic MBP gene is a major constituent of the myelin sheath of oligodendrocytes and Schwann cells in the nervous system. However, MBP-related transcripts are also present in the bone marrow and the immune system. These mRNAs arise from the long MBP gene (otherwise called "Golli-MBP") that contains 3 additional exons located upstream of the classic MBP exons. Alternative splicing from the Golli and the MBP transcription start sites gives rise to 2 sets of MBP-related transcripts and gene products. The Golli mRNAs contain 3 exons unique to Golli-MBP, spliced in-frame to 1 or more MBP exons. They encode hybrid proteins that have N-terminal Golli aa sequence linked to MBP aa sequence. The second family of transcripts contain only MBP exons and produce the well characterized myelin basic proteins. This complex gene structure is conserved among species suggesting that the MBP transcription unit is an integral part of the Golli transcription unit and that this arrangement is important for the function and/or regulation of these genes. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 287.3) and thyroid (RPKM 8.9) See more
    Orthologs
    Location:
    18q23
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (76978833..77133708, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (74690789..74844774, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372214 Neighboring gene zinc finger protein 236 Neighboring gene exportin for tRNA pseudogene Neighboring gene uncharacterized LOC105372217 Neighboring gene uncharacterized LOC107987261 Neighboring gene galanin receptor 1 Neighboring gene uncharacterized LOC107985171

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
    NHGRI GWA Catalog
    Impact of ancestry and common genetic variants on QT interval in African Americans.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC99675

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calmodulin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protease binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural constituent of myelin sheath IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axon ensheathment TAS
    Traceable Author Statement
    more info
    PubMed 
    central nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    maintenance of permeability of blood-brain barrier IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane organization IEA
    Inferred from Electronic Annotation
    more info
     
    myelination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    negative regulation of heterotypic cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of chemokine (C-C motif) ligand 2 secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of interleukin-6 secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of metalloendopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
     
    sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    substantia nigra development HEP PubMed 
    Component Evidence Code Pubs
    cell periphery IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    compact myelin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    internode region of axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    intracellular IDA
    Inferred from Direct Assay
    more info
    PubMed 
    myelin sheath IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    myelin basic protein; Golli-MBP; proline-rich proteoglycan 2
    Names
    myelin A1 protein
    myelin membrane encephalitogenic protein

    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_001025081.1NP_001020252.1  myelin basic protein isoform 1

      See identical proteins and their annotated locations for NP_001020252.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest of the classic MBP isoforms (1).
      Source sequence(s)
      AK098402, AK128770, BC080654, BG766942, M30515
      Consensus CDS
      CCDS32847.1
      UniProtKB/Swiss-Prot
      P02686
      Related
      ENSP00000372025.3, OTTHUMP00000163775, ENST00000382582.7, OTTHUMT00000256359
      Conserved Domains (1) summary
      pfam01669
      Location:16196
      Myelin_MBP; Myelin basic protein
    2. NM_001025090.1NP_001020261.1  myelin basic protein isoform 3

      See identical proteins and their annotated locations for NP_001020261.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks exon 2 compared to transcript variant 1 and encodes one of the classic MBP isoforms (3) that is missing a 26 aa segment compared to isoform 1.
      Source sequence(s)
      AK098402, AK128770, BC080654, BG766942
      Consensus CDS
      CCDS42449.1
      UniProtKB/Swiss-Prot
      P02686
      Related
      ENSP00000380964.4, OTTHUMP00000174385, ENST00000397866.8, OTTHUMT00000267946
      Conserved Domains (1) summary
      pfam01669
      Location:16170
      Myelin_MBP; Myelin basic protein
    3. NM_001025092.1NP_001020263.1  myelin basic protein isoform 4

      See identical proteins and their annotated locations for NP_001020263.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks exons 2 and 5 compared to transcript variant 1 and encodes one of the classic MBP isoforms (4) that is missing a 26 aa and a 11 aa segment compared to isoform 1.
      Source sequence(s)
      AK098402, AK128770, BC080654, BG766942
      Consensus CDS
      CCDS42448.1
      UniProtKB/Swiss-Prot
      P02686
      Related
      ENSP00000380963.5, OTTHUMP00000174386, ENST00000397865.9, OTTHUMT00000267947
      Conserved Domains (1) summary
      pfam01669
      Location:16159
      Myelin_MBP; Myelin basic protein
    4. NM_001025100.1NP_001020271.1  Golli-MBP isoform 2

      See identical proteins and their annotated locations for NP_001020271.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) contains 3 exons unique to Golli-MBP and exon 1 of the classic MBP. It encodes the shorter of the Golli-mbp isoforms (2) and is also known as hemopoietic MBP.
      Source sequence(s)
      AB208986, AC018529, AK093588, BM977768, BU430656, N20370
      Consensus CDS
      CCDS42450.1
      UniProtKB/Swiss-Prot
      P02686
      Related
      ENSP00000380958.3, OTTHUMP00000174384, ENST00000397860.7, OTTHUMT00000267945
      Conserved Domains (1) summary
      pfam01669
      Location:149191
      Myelin_MBP; Myelin basic protein
    5. NM_001025101.1NP_001020272.1  Golli-MBP isoform 1

      See identical proteins and their annotated locations for NP_001020272.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) contains 3 exons unique to Golli-MBP and exons 1 and 3-7 of the classic MBP. It encodes the longer of the Golli-mbp isoforms (1).
      Source sequence(s)
      AB208986, AC018529, AK098402, AK128770, BC080654
      UniProtKB/Swiss-Prot
      P02686
      UniProtKB/TrEMBL
      A0A024R384
      Related
      ENSP00000348273.2, ENST00000355994.6
      Conserved Domains (1) summary
      pfam01669
      Location:149303
      Myelin_MBP; Myelin basic protein
    6. NM_002385.2NP_002376.1  myelin basic protein isoform 2

      See identical proteins and their annotated locations for NP_002376.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks exon 5 compared to transcript variant 1 and encodes one of the classic MBP isoforms (2) that is missing a 11 aa segment compared to isoform 1.
      Source sequence(s)
      AK098402, AK128770, BC080654, BG766942, M30516
      Consensus CDS
      CCDS12011.1
      UniProtKB/Swiss-Prot
      P02686
      Related
      ENSP00000352667.3, OTTHUMP00000163774, ENST00000359645.7, OTTHUMT00000256358
      Conserved Domains (1) summary
      pfam01669
      Location:16185
      Myelin_MBP; Myelin basic protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p12 Primary Assembly

      Range
      76978833..77133708 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451186.1XP_024306954.1  Golli-MBP isoform X1

      Conserved Domains (1) summary
      pfam01669
      Location:149293
      Myelin_MBP; Myelin basic protein
    2. XM_024451185.1XP_024306953.1  Golli-MBP isoform X1

      Conserved Domains (1) summary
      pfam01669
      Location:149293
      Myelin_MBP; Myelin basic protein
    3. XM_024451187.1XP_024306955.1  Golli-MBP isoform X1

      Conserved Domains (1) summary
      pfam01669
      Location:149293
      Myelin_MBP; Myelin basic protein
    4. XM_024451188.1XP_024306956.1  myelin basic protein isoform X2

      Conserved Domains (1) summary
      pfam01669
      Location:16160
      Myelin_MBP; Myelin basic protein
    5. XM_017025780.2XP_016881269.1  Golli-MBP isoform X5

      UniProtKB/Swiss-Prot
      P02686
      Related
      ENSP00000380961.1, OTTHUMP00000174383, ENST00000397863.5
      Conserved Domains (1) summary
      pfam01669
      Location:149191
      Myelin_MBP; Myelin basic protein
    6. XM_017025778.2XP_016881267.1  Golli-MBP isoform X3

    7. XM_024451189.1XP_024306957.1  proline-rich proteoglycan 2 isoform X4

      Conserved Domains (1) summary
      cl26386
      Location:37190
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    RNA

    1. XR_001753202.1 RNA Sequence

    2. XR_001753201.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001025094.1: Suppressed sequence

      Description
      NM_001025094.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    2. NM_001025098.1: Suppressed sequence

      Description
      NM_001025098.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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