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    MBP myelin basic protein [ Homo sapiens (human) ]

    Gene ID: 4155, updated on 7-Apr-2024

    Summary

    Official Symbol
    MBPprovided by HGNC
    Official Full Name
    myelin basic proteinprovided by HGNC
    Primary source
    HGNC:HGNC:6925
    See related
    Ensembl:ENSG00000197971 MIM:159430; AllianceGenome:HGNC:6925
    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]
    Annotation information
    Note: MBP (Gene ID: 4155) and MBL2 (Gene ID: 4153) share the MBP symbol/alias in common. MBP is a widely used alternative name for mannose binding lectin 2 (MBL2), which can be confused with the official symbol for MBP (myelin basic protein, GeneID 4155). [01 Jun 2018]
    Expression
    Biased expression in brain (RPKM 287.3) and thyroid (RPKM 8.9) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    18q23
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (76978833..77133708, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (77209381..77365381, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (74690789..74844739, 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 H3K4me1 hESC enhancer GRCh37_chr18:74651502-74652002 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9562 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:74678461-74679129 Neighboring gene uncharacterized LOC105372217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:74694849-74695698 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:74700218-74701417 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:74704741-74705313 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:74709764-74710264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:74710265-74710765 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:74717425-74718324 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:74718325-74719223 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:74748403-74749602 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:74757338-74757860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:74765055-74765555 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:74766661-74767562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:74770546-74771179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13521 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:74776675-74777874 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13522 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13524 Neighboring gene uncharacterized LOC124904328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:74802305-74802806 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:74802807-74803306 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:74804211-74804718 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:74808602-74809360 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:74809361-74810118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:74811635-74812393 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13526 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9563 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:74823367-74823868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:74823869-74824370 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:74825481-74826028 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:74830525-74831025 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:74831608-74832216 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:74832217-74832825 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:74835311-74836244 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13531 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13533 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9564 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:74870262-74870762 Neighboring gene NANOG hESC enhancer GRCh37_chr18:74872399-74872969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13534 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:74938546-74939745 Neighboring gene uncharacterized LOC124904329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:74961440-74962111 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:74962783-74963454 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:75002506-75003006 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:75003007-75003507 Neighboring gene galanin receptor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:75050846-75051397 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:75065347-75066546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:75079064-75079568 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:75115171-75116370 Neighboring gene uncharacterized LOC107985171

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
    EBI GWAS Catalog
    Impact of ancestry and common genetic variants on QT interval in African Americans.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC99675

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calmodulin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protease binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of myelin sheath IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in cell periphery IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in compact myelin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in internode region of axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in myelin sheath IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    myelin basic protein; Golli-MBP
    Names
    myelin A1 protein
    myelin membrane encephalitogenic protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001025081.2NP_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/TrEMBL
      A8K1H8
      Related
      ENSP00000372025.3, ENST00000382582.7
      Conserved Domains (1) summary
      pfam01669
      Location:16196
      Myelin_MBP; Myelin basic protein
    2. NM_001025090.2NP_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
      Consensus CDS
      CCDS42449.1
      UniProtKB/TrEMBL
      A8MZH3
      Related
      ENSP00000380964.4, ENST00000397866.8
      Conserved Domains (1) summary
      pfam01669
      Location:16170
      Myelin_MBP; Myelin basic protein
    3. NM_001025092.2NP_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/TrEMBL
      B4DF42
      Related
      ENSP00000380963.5, ENST00000397865.9
      Conserved Domains (1) summary
      pfam01669
      Location:16159
      Myelin_MBP; Myelin basic protein
    4. NM_001025100.2NP_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/TrEMBL
      J3KS94
      Related
      ENSP00000380958.3, ENST00000397860.7
      Conserved Domains (1) summary
      pfam01669
      Location:149191
      Myelin_MBP; Myelin basic protein
    5. NM_001025101.2NP_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
      A4FU54, A6NI84, A8MY86, A8MYL4, B3KY66, B7ZKS2, B7ZKS4, P02686, Q15337, Q15338, Q15339, Q15340, Q59GX3, Q65ZS4, Q6AI64, Q6FH37, Q6FI04, Q6PK23
      Related
      ENSP00000348273.2, ENST00000355994.7
      Conserved Domains (1) summary
      pfam01669
      Location:149303
      Myelin_MBP; Myelin basic protein
    6. NM_002385.3NP_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/TrEMBL
      A8K1H8
      Related
      ENSP00000352667.3, ENST00000359645.7
      Conserved Domains (1) summary
      pfam01669
      Location:16185
      Myelin_MBP; Myelin basic protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047437533.1XP_047293489.1  Golli-MBP isoform X5

    2. XM_047437532.1XP_047293488.1  Golli-MBP isoform X5

    3. XM_047437530.1XP_047293486.1  Golli-MBP isoform X3

    4. XM_047437529.1XP_047293485.1  Golli-MBP isoform X2

    5. XM_047437536.1XP_047293492.1  Golli-MBP isoform X8

      Related
      ENSP00000463780.1, ENST00000579129.5
    6. XM_047437535.1XP_047293491.1  Golli-MBP isoform X7

    7. XM_047437534.1XP_047293490.1  Golli-MBP isoform X6

    8. XM_047437531.1XP_047293487.1  Golli-MBP isoform X4

    9. XM_047437523.1XP_047293479.1  Golli-MBP isoform X1

    10. XM_047437521.1XP_047293477.1  Golli-MBP isoform X1

    11. XM_047437528.1XP_047293484.1  Golli-MBP isoform X1

    12. XM_047437522.1XP_047293478.1  Golli-MBP isoform X1

    13. XM_047437524.1XP_047293480.1  Golli-MBP isoform X1

    14. XM_047437525.1XP_047293481.1  Golli-MBP isoform X1

    15. XM_047437527.1XP_047293483.1  Golli-MBP isoform X1

    16. XM_047437526.1XP_047293482.1  Golli-MBP isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      77209381..77365381 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318652.1XP_054174627.1  Golli-MBP isoform X5

    2. XM_054318651.1XP_054174626.1  Golli-MBP isoform X5

    3. XM_054318649.1XP_054174624.1  Golli-MBP isoform X3

    4. XM_054318648.1XP_054174623.1  Golli-MBP isoform X2

    5. XM_054318655.1XP_054174630.1  Golli-MBP isoform X8

    6. XM_054318654.1XP_054174629.1  Golli-MBP isoform X7

    7. XM_054318653.1XP_054174628.1  Golli-MBP isoform X6

    8. XM_054318650.1XP_054174625.1  Golli-MBP isoform X4

    9. XM_054318643.1XP_054174618.1  Golli-MBP isoform X1

    10. XM_054318642.1XP_054174617.1  Golli-MBP isoform X1

    11. XM_054318647.1XP_054174622.1  Golli-MBP isoform X1

    12. XM_054318644.1XP_054174619.1  Golli-MBP isoform X1

    13. XM_054318645.1XP_054174620.1  Golli-MBP isoform X1

    14. XM_054318646.1XP_054174621.1  Golli-MBP isoform X1

    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.