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

Summary

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 be a structural constituent of myelin sheath. Predicted to be involved in nervous system development. Predicted to be located in mitochondrion and perinuclear region of cytoplasm. Implicated in frontotemporal dementia. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward brain (RPKM 31.3) See more
Orthologs: mouse all
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Genomic context

Location:: 3p22.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (39467680..39529497)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (39480633..39542424)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (39509171..39570988)

Chromosome 3 - NC_000003.12 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 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?

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.
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.
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.
Dentate gyrus volume deficit in schizophrenia.
Title: Dentate gyrus volume deficit in schizophrenia.
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.
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.
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.
rs1768208 is associated with corticobasal degeneration.
Title: Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.
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.
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 EBI GWAS CatalogPubMed
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. 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

RH80753 (e-PCR)
- UniSTS:83746

D3S3390 (e-PCR)
- UniSTS:57127

G18010 (e-PCR)
- UniSTS:47677

WI-13470 (e-PCR)
- UniSTS:21831

G42937 (e-PCR)
- UniSTS:94832

G16598 (e-PCR)
- UniSTS:69254

RH92643 (e-PCR)
- UniSTS:87753

SHGC-76849 (e-PCR)
- UniSTS:15819

D3S3484E (e-PCR)
- UniSTS:154073

G09421 (e-PCR)
- UniSTS:78555

D3S4336 (e-PCR)
- UniSTS:474082

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)

NM_001278322.2 → NP_001265251.1 myelin-associated oligodendrocyte basic protein isoform a

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

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

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

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
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
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
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