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MBP myelin basic protein [ Homo sapiens (human) ]

Gene ID: 4155, updated on 9-Dec-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
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Genomic context

See MBP in Genome Data Viewer
Location:
18q23
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (76978833..77133708, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (77209381..77365381, complement)
RS_2024_09 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 lipid binding EXP
Inferred from Experiment
more info
PubMed 
enables protease binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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)

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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_2024_08

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

    UniProtKB/TrEMBL
    J3QQK6
  2. XM_047437532.1XP_047293488.1  Golli-MBP isoform X5

    UniProtKB/TrEMBL
    J3QQK6
  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

    UniProtKB/TrEMBL
    J3QQK6
    Related
    ENSP00000463780.1, ENST00000579129.5
  6. XM_047437535.1XP_047293491.1  Golli-MBP isoform X7

    UniProtKB/TrEMBL
    J3QQK6
  7. XM_047437534.1XP_047293490.1  Golli-MBP isoform X6

    UniProtKB/TrEMBL
    J3QQK6
  8. XM_047437531.1XP_047293487.1  Golli-MBP isoform X4

    UniProtKB/TrEMBL
    J3QQK6
  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

    UniProtKB/TrEMBL
    J3QQK6
  2. XM_054318651.1XP_054174626.1  Golli-MBP isoform X5

    UniProtKB/TrEMBL
    J3QQK6
  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

    UniProtKB/TrEMBL
    J3QQK6
  6. XM_054318654.1XP_054174629.1  Golli-MBP isoform X7

    UniProtKB/TrEMBL
    J3QQK6
  7. XM_054318653.1XP_054174628.1  Golli-MBP isoform X6

    UniProtKB/TrEMBL
    J3QQK6
  8. XM_054318650.1XP_054174625.1  Golli-MBP isoform X4

    UniProtKB/TrEMBL
    J3QQK6
  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.