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MBP myelin basic protein [ Homo sapiens (human) ]

Gene ID: 4155, updated on 9-Sep-2018

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; 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]
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

Genomic context

See MBP in Genome Data Viewer
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

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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
PubMed 
compact myelin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
internode region of axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 

General protein information

Preferred Names
myelin basic protein; Golli-MBP; proline-rich proteoglycan 2
Names
myelin A1 protein
myelin membrane encephalitogenic protein

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_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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