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MOBP myelin associated oligodendrocyte basic protein [ Homo sapiens (human) ]

Gene ID: 4336, updated on 5-Mar-2024

Summary

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Official Symbol
MOBPprovided by HGNC
Official Full Name
myelin associated oligodendrocyte basic proteinprovided by HGNC
Primary source
HGNC:HGNC:7189
See related
Ensembl:ENSG00000168314 MIM:600948; AllianceGenome:HGNC:7189
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable actin binding activity and myosin binding activity. Predicted to be a structural constituent of myelin sheath. Predicted to be involved in nervous system development. Predicted to be located in mitochondrion. Predicted to be active in cortical actin cytoskeleton. Implicated in frontotemporal dementia. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward brain (RPKM 31.3) See more
Orthologs
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Genomic context

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See MOBP in Genome Data Viewer
Location:
3p22.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (39467680..39529497)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (39480633..39542424)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (39509171..39570988)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986075 Neighboring gene small nucleolar RNA, H/ACA box 62 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14229 Neighboring gene ribosomal protein SA Neighboring gene NANOG hESC enhancer GRCh37_chr3:39508789-39509471 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:39513805-39514612 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:39514613-39515420 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:39547383-39547882 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:39618867-39619806 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:39624719-39625251 Neighboring gene NFE2L2 motif-containing MPRA enhancer 66 Neighboring gene NFU1 iron-sulfur cluster scaffold pseudogene 1 Neighboring gene MPRA-validated peak4615 silencer Neighboring gene uncharacterized LOC105377039

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. MOBP rs616147 Polymorphism and Risk of Amyotrophic Lateral Sclerosis in a Greek Population: A Case-Control Study. Liampas I, et al. Medicina (Kaunas), 2021 Dec 7. PMID 34946282, Free PMC Article
  2. Myelin-associated oligodendrocyte basic protein rs616147 polymorphism as a risk factor for Parkinson's disease. Siokas V, et al. Acta Neurol Scand, 2022 Feb. PMID 34694630
  3. Immunoreactivity of myelin-associated oligodendrocytic basic protein in Lewy bodies. Kon T, et al. Neuropathology, 2019 Aug. PMID 31183926
  4. MOBP and HIP1 in multiple system atrophy: New α-synuclein partners in glial cytoplasmic inclusions implicated in the disease pathogenesis. Bettencourt C, et al. Neuropathol Appl Neurobiol, 2021 Aug. PMID 33368549, Free PMC Article
  5. Myelin oligodendrocyte basic protein and prognosis in behavioral-variant frontotemporal dementia. Irwin DJ, et al. Neurology, 2014 Aug 5. PMID 24994843, Free PMC Article

See all (32) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MOBP and HIP1 in multiple system atrophy: New alpha-synuclein partners in glial cytoplasmic inclusions implicated in the disease pathogenesis.
    Title: MOBP and HIP1 in multiple system atrophy: New α-synuclein partners in glial cytoplasmic inclusions implicated in the disease pathogenesis.
  2. Myelin-associated oligodendrocyte basic protein rs616147 polymorphism as a risk factor for Parkinson's disease.
    Title: Myelin-associated oligodendrocyte basic protein rs616147 polymorphism as a risk factor for Parkinson's disease.
  3. MOBP rs616147 Polymorphism and Risk of Amyotrophic Lateral Sclerosis in a Greek Population: A Case-Control Study.
    Title: MOBP rs616147 Polymorphism and Risk of Amyotrophic Lateral Sclerosis in a Greek Population: A Case-Control Study.
  4. Dentate gyrus volume deficit in schizophrenia.
    Title: Dentate gyrus volume deficit in schizophrenia.
  5. White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy.
    Title: White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy.
  6. Study shoes that myelin-associated oligodendrocytic basic protein immunoreactivity is present in the core of Lewy bodies in Parkinson's disease and dementia with Lewy Bodies.
    Title: Immunoreactivity of myelin-associated oligodendrocytic basic protein in Lewy bodies.
  7. Mutation in MOBP gene is associated with amyotrophic lateral sclerosis.
    Title: Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.
  8. rs1768208 is associated with corticobasal degeneration.
    Title: Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.
  9. The rs1768208 risk polymorphism in MOBP has prognostic value in behavioral-variant frontotemporal dementia.
    Title: Myelin oligodendrocyte basic protein and prognosis in behavioral-variant frontotemporal dementia.
  10. Genotypes at MOBP and EIF2AK3 confer risk predominantly in APOE epsilon4-positive subjects, with indications of an interaction between APOE and MOBP or EIF2AK3 on Alzheimer's disease risk.
    Title: An exploratory study on STX6, MOBP, MAPT, and EIF2AK3 and late-onset Alzheimer's disease.
Submit: New GeneRIF Correction See all GeneRIFs (13)

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
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
EBI GWAS Catalog
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
EBI GWAS Catalog
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
EBI GWAS Catalog
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: RPSA

Homology

Clone Names

  • FLJ37799, MGC87379

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables structural constituent of myelin sheath IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in central nervous system myelin formation IEA
Inferred from Electronic Annotation
more info
  
involved_in nervous system development TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
  
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
myelin-associated oligodendrocyte basic 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_001278322.2 → NP_001265251.1  myelin-associated oligodendrocyte basic protein isoform a

    See identical proteins and their annotated locations for NP_001265251.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC092058, AK127034, DA343382
    Consensus CDS
    CCDS63598.1
    UniProtKB/Swiss-Prot
    Q13875
    Related
    ENSP00000312293.6, ENST00000311042.10
    Conserved Domains (1) summary
    cl22851
    Location:1 → 68
    PHD_SF; PHD finger superfamily

  2. NM_001278323.2 → NP_001265252.1  myelin-associated oligodendrocyte basic protein isoform b

    See identical proteins and their annotated locations for NP_001265252.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains multiple differences in the UTRs and coding region, compared to variant 1. The encoded isoform (b) is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    BF511176, DA217942
    Consensus CDS
    CCDS2688.1
    UniProtKB/Swiss-Prot
    A8K2C2, G5E945, Q13874, Q13875, Q6DHZ6, Q8TBJ1
    Related
    ENSP00000506926.1, ENST00000682069.1
    Conserved Domains (2) summary
    PRK06995
    Location:70 → 163
    flhF; flagellar biosynthesis protein FlhF
    cl22851
    Location:1 → 69
    PHD_SF; PHD finger superfamily

  3. NM_001393704.1 → NP_001380633.1  myelin-associated oligodendrocyte basic protein isoform b

    Status: VALIDATED

    Source sequence(s)
    AC092058
    Consensus CDS
    CCDS2688.1
    UniProtKB/Swiss-Prot
    A8K2C2, G5E945, Q13874, Q13875, Q6DHZ6, Q8TBJ1
    Related
    ENSP00000508923.1, ENST00000684792.1
    Conserved Domains (2) summary
    PRK06995
    Location:70 → 163
    flhF; flagellar biosynthesis protein FlhF
    cl22851
    Location:1 → 69
    PHD_SF; PHD finger superfamily

  4. NM_182935.4 → NP_891980.1  myelin-associated oligodendrocyte basic protein isoform c

    See identical proteins and their annotated locations for NP_891980.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (c) is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC092058, DA343382
    Consensus CDS
    CCDS2687.1
    UniProtKB/TrEMBL
    A0A0S2Z3W1
    Related
    ENSP00000373261.3, ENST00000383754.7
    Conserved Domains (1) summary
    cl22851
    Location:1 → 73
    PHD_SF; PHD finger superfamily

RNA

  1. NR_003090.3 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the translational start codon used in variant 1 renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC092058, D28113, DA343382

  2. NR_103504.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site at an internal exon and differs in the 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the translational start codon used in variant 1 renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC092058, D28113, DA343382

  3. NR_103505.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) uses two alternate splice sites at an internal exon and differs in the 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the translational start codon used in variant 1 renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC092058, D28113, D28114, DA343382

  4. NR_103506.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because it lacks the entire coding region found in variant 1.
    Source sequence(s)
    AC092058, DA287397, DA343382

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    39467680..39529497
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    39480633..39542424
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13875.2 GenPept UniProtKB/Swiss-Prot:Q13875

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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