MBP myelin basic protein [Homo sapiens (human)] - Gene

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: mouse all
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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_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Citrullination of myelin basic protein induces a Th17-cell response in healthy individuals and enhances the presentation of MBP85-99 in patients with multiple sclerosis.
Title: Citrullination of myelin basic protein induces a Th17-cell response in healthy individuals and enhances the presentation of MBP85-99 in patients with multiple sclerosis.
Investigation of the relationship between MBP gene polymorphisms and delayed encephalopathy after acute carbon monoxide poisoning.
Title: Investigation of the relationship between MBP gene polymorphisms and delayed encephalopathy after acute carbon monoxide poisoning.
Multiple sclerosis and myelin basic protein: insights into protein disorder and disease.
Title: Multiple sclerosis and myelin basic protein: insights into protein disorder and disease.
Multiple Sclerosis: Enzymatic Cross Site-Specific Hydrolysis of H1 Histone by IgGs against H1, H2A, H2B, H3, H4 Histones, and Myelin Basic Protein.
Title: Multiple Sclerosis: Enzymatic Cross Site-Specific Hydrolysis of H1 Histone by IgGs against H1, H2A, H2B, H3, H4 Histones, and Myelin Basic Protein.
Myelin basic protein and neurofilament H in postmortem cerebrospinal fluid as surrogate markers of fatal traumatic brain injury.
Title: Myelin basic protein and neurofilament H in postmortem cerebrospinal fluid as surrogate markers of fatal traumatic brain injury.
HIV-Infected Patients: Cross Site-Specific Hydrolysis of H3 and H4 Histones and Myelin Basic Protein with Antibodies against These Three Proteins.
Title: HIV-Infected Patients: Cross Site-Specific Hydrolysis of H3 and H4 Histones and Myelin Basic Protein with Antibodies against These Three Proteins.
HIV-Infected Patients: Cross Site-Specific Hydrolysis of H2a and H2b Histones and Myelin Basic Protein with Antibodies against These Three Proteins.
Title: HIV-Infected Patients: Cross Site-Specific Hydrolysis of H2a and H2b Histones and Myelin Basic Protein with Antibodies against These Three Proteins.
A Polymorphism Within the MBP Gene Is Associated With a Higher Relapse Number in Male Patients of Multiple Sclerosis.
Title: A Polymorphism Within the MBP Gene Is Associated With a Higher Relapse Number in Male Patients of Multiple Sclerosis.
The 3A6-TCR/superagonist/HLA-DR2a complex shows similar interface and reduced flexibility compared to the complex with self-peptide.
Title: The 3A6-TCR/superagonist/HLA-DR2a complex shows similar interface and reduced flexibility compared to the complex with self-peptide.
results do not support an association of the analysed SLC6A3 and MBP gene polymorphisms with PTSD in war traumatized individuals; there is a possibility for a correlation of the T allele rs12458282 within the MBP gene with higher CAPS scores in lifetime PTSD patients which would need to be tested in a sample providing more statistical power
Title: Associations between Polymorphisms in the Solute Carrier Family 6 Member 3 and the Myelin Basic Protein Gene and Posttraumatic Stress Disorder.

Submit: New GeneRIF Correction See all GeneRIFs (80)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-9286 (e-PCR)
- UniSTS:15617

STS-N24137 (e-PCR)
- UniSTS:47876

WI-15134 (e-PCR)
- UniSTS:12293

SHGC-8023 (e-PCR)
- UniSTS:7689

SHGC-142581 (e-PCR)
- UniSTS:171534

D18S1220 (e-PCR)
- UniSTS:29993

SHGC-142185 (e-PCR)
- UniSTS:171306

RH103774 (e-PCR)
- UniSTS:98099

GDB:216766 (e-PCR)
- UniSTS:156213

GDB:192404 (e-PCR)
- UniSTS:155717

WI-15273 (e-PCR)
- UniSTS:67143

SHGC-150932 (e-PCR)
- UniSTS:173144

SHGC-58298 (e-PCR)
- UniSTS:62040

SHGC-8101 (e-PCR)
- UniSTS:76398

D18S540E (e-PCR)
- UniSTS:473201

D18S908E (e-PCR)
- UniSTS:39306

SHGC-56482 (e-PCR)
- UniSTS:67227

SHGC-30049 (e-PCR)
- UniSTS:81577

G60281 (e-PCR)
- UniSTS:137386

NoName (e-PCR)
- UniSTS:483755

SHGC-4191 (e-PCR)
- UniSTS:58563

RH71176 (e-PCR)
- UniSTS:63948

SHGC-33881 (e-PCR)
- UniSTS:52174

RH102385 (e-PCR)
- UniSTS:96719

RH68154 (e-PCR)
- UniSTS:49622

GDB:196611 (e-PCR)
- UniSTS:155876

Mbp (e-PCR), detects polymorphism
- UniSTS:495847

MBP_206 (e-PCR)
- UniSTS:277480

GDB:196682 (e-PCR)
- UniSTS:155883

D18S1097 (e-PCR), detects polymorphism
- UniSTS:75246

D18S1250 (e-PCR)
- UniSTS:57077

SHGC-8076 (e-PCR)
- UniSTS:82422

D18S927E (e-PCR)
- UniSTS:150522

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

Process	Evidence Code	Pubs
involved_in MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in axon ensheathment	TAS Traceable Author Statement more info	PubMed
involved_in central nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in chemical synaptic transmission	TAS Traceable Author Statement more info	PubMed
involved_in immune response	TAS Traceable Author Statement more info	PubMed
involved_in maintenance of blood-brain barrier	IDA Inferred from Direct Assay more info	PubMed
involved_in membrane organization	IEA Inferred from Electronic Annotation more info
involved_in myelination	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of heterotypic cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of chemokine (C-X-C motif) ligand 2 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-6 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of metalloendopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in response to toxic substance	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info
involved_in substantia nigra development	HEP 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

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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)

NM_001025081.2 → NP_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:16 → 196

Myelin_MBP; Myelin basic protein
NM_001025090.2 → NP_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:16 → 170

Myelin_MBP; Myelin basic protein
NM_001025092.2 → NP_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:16 → 159

Myelin_MBP; Myelin basic protein
NM_001025100.2 → NP_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:149 → 191

Myelin_MBP; Myelin basic protein
NM_001025101.2 → NP_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:149 → 303

Myelin_MBP; Myelin basic protein
NM_002385.3 → NP_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:16 → 185

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

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

76978833..77133708 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047437533.1 → XP_047293489.1 Golli-MBP isoform X5
XM_047437532.1 → XP_047293488.1 Golli-MBP isoform X5
XM_047437530.1 → XP_047293486.1 Golli-MBP isoform X3
XM_047437529.1 → XP_047293485.1 Golli-MBP isoform X2
XM_047437536.1 → XP_047293492.1 Golli-MBP isoform X8

Related

ENSP00000463780.1, ENST00000579129.5
XM_047437535.1 → XP_047293491.1 Golli-MBP isoform X7
XM_047437534.1 → XP_047293490.1 Golli-MBP isoform X6
XM_047437531.1 → XP_047293487.1 Golli-MBP isoform X4
XM_047437523.1 → XP_047293479.1 Golli-MBP isoform X1
XM_047437521.1 → XP_047293477.1 Golli-MBP isoform X1
XM_047437528.1 → XP_047293484.1 Golli-MBP isoform X1
XM_047437522.1 → XP_047293478.1 Golli-MBP isoform X1
XM_047437524.1 → XP_047293480.1 Golli-MBP isoform X1
XM_047437525.1 → XP_047293481.1 Golli-MBP isoform X1
XM_047437527.1 → XP_047293483.1 Golli-MBP isoform X1
XM_047437526.1 → XP_047293482.1 Golli-MBP isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060942.1 Alternate T2T-CHM13v2.0

Range

77209381..77365381 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054318652.1 → XP_054174627.1 Golli-MBP isoform X5
XM_054318651.1 → XP_054174626.1 Golli-MBP isoform X5
XM_054318649.1 → XP_054174624.1 Golli-MBP isoform X3
XM_054318648.1 → XP_054174623.1 Golli-MBP isoform X2
XM_054318655.1 → XP_054174630.1 Golli-MBP isoform X8
XM_054318654.1 → XP_054174629.1 Golli-MBP isoform X7
XM_054318653.1 → XP_054174628.1 Golli-MBP isoform X6
XM_054318650.1 → XP_054174625.1 Golli-MBP isoform X4
XM_054318643.1 → XP_054174618.1 Golli-MBP isoform X1
XM_054318642.1 → XP_054174617.1 Golli-MBP isoform X1
XM_054318647.1 → XP_054174622.1 Golli-MBP isoform X1
XM_054318644.1 → XP_054174619.1 Golli-MBP isoform X1
XM_054318645.1 → XP_054174620.1 Golli-MBP isoform X1
XM_054318646.1 → XP_054174621.1 Golli-MBP isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001025094.1: Suppressed sequence

Description

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

Description

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