MPZ myelin protein zero [Homo sapiens (human)] - Gene

Summary

Official Symbol: MPZprovided by HGNC
Official Full Name: myelin protein zeroprovided by HGNC
Primary source: HGNC:HGNC:7225
See related: Ensembl:ENSG00000158887 MIM:159440; AllianceGenome:HGNC:7225
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
Also known as: P0; CHM; DSS; MPP; CHN2; CMT1; CMT1B; CMT2I; CMT2J; CMT4E; CMTDI3; CMTDID; HMSNIB
Summary: This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extracellular domain and a smaller basic intracellular domain, which are essential for the formation and stabilization of the multilamellar structure of the compact myelin. Mutations in this gene are associated with autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) and other polyneuropathies, such as Dejerine-Sottas syndrome (DSS) and congenital hypomyelinating neuropathy (CHN). A recent study showed that two isoforms are produced from the same mRNA by use of alternative in-frame translation termination codons via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2015]
Expression: Broad expression in fat (RPKM 6.2), prostate (RPKM 4.2) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q23.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (161303600..161309968, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (160441004..160447413, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (161274525..161279758, complement)

Chromosome 1 - NC_000001.11 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?

Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
Title: Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease.
Title: Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease.
Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy.
Title: Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy.
Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot-Marie-Tooth disease in a Russian family: a case report.
Title: Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot-Marie-Tooth disease in a Russian family: a case report.
Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
Title: Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
MPZ gene variant site in Chinese patients with Charcot-Marie-Tooth disease.
Title: MPZ gene variant site in Chinese patients with Charcot-Marie-Tooth disease.
Loss of function MPZ mutation causes milder CMT1B neuropathy.
Title: Loss of function MPZ mutation causes milder CMT1B neuropathy.
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Title: Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies.
Title: Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies.
Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies.
Title: Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies.

Submit: New GeneRIF Correction See all GeneRIFs (94)

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

Associated conditions

Description	Tests
Charcot-Marie-Tooth disease dominant intermediate D MedGen: C1843075 OMIM: 607791 GeneReviews: Not available	Compare labs
Charcot-Marie-Tooth disease type 1B MedGen: C0270912 OMIM: 118200 GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview	Compare labs
Charcot-Marie-Tooth disease type 2I MedGen: C3888087 OMIM: 607677 GeneReviews: Not available	Compare labs
Charcot-Marie-Tooth disease type 2J MedGen: C1843153 OMIM: 607736 GeneReviews: Not available	Compare labs
Dejerine-Sottas disease MedGen: C0011195 OMIM: 145900 GeneReviews: Not available	Compare labs
Neuropathy, congenital hypomyelinating, 2 MedGen: C4722277 OMIM: 618184 GeneReviews: Not available	Compare labs
Roussy-Levy syndrome MedGen: C0205713 OMIM: 180800 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. 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

GDB:567202 (e-PCR)
- UniSTS:157711

GDB:567206 (e-PCR)
- UniSTS:157712

GDB:567212 (e-PCR)
- UniSTS:157713

GDB:567216 (e-PCR)
- UniSTS:157714

AL009353 (e-PCR)
- UniSTS:81171

GDB:567273 (e-PCR)
- UniSTS:157716

G15925 (e-PCR)
- UniSTS:37164

GDB:453314 (e-PCR)
- UniSTS:157411

GDB:453316 (e-PCR)
- UniSTS:157412

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables structural molecule activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cell aggregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell adhesion via plasma-membrane adhesion molecules	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chemical synaptic transmission	TAS Traceable Author Statement more info	PubMed
involved_in myelination	IBA Inferred from Biological aspect of Ancestor more info
involved_in myelination	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in myelin sheath	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: myelin protein P0

Names: Charcot-Marie-Tooth neuropathy 1B; myelin peripheral 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.

Genomic

NG_008055.1 RefSeqGene

Range

5001..10238

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_256

mRNA and Protein(s)

NM_000530.8 → NP_000521.2 myelin protein P0 isoform MPZ precursor

See identical proteins and their annotated locations for NP_000521.2

Status: REVIEWED

Description

Transcript Variant: This transcript (1) encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (MPZ, also known as P0) results from translation termination at the upstream UAG stop codon, while the longer isoform (L-MPZ) results from UAG stop codon readthrough to the downstream UGA termination codon. This RefSeq represents the shorter isoform (MPZ).

Source sequence(s)

BM663255, CD172418, D10537, DB210759

Consensus CDS

CCDS1229.2

UniProtKB/Swiss-Prot

P25189, Q16072, Q5VTH4, Q92677, Q9BR67

UniProtKB/TrEMBL

A0A0J9YWT2

Related

ENSP00000432943.1, ENST00000533357.5

Conserved Domains (2) summary

cd05879
Location:31 → 146

Ig_P0; Immunoglobulin (Ig)-like domain of Protein zero (P0)

pfam10570
Location:184 → 248

Myelin-PO_C; Myelin-PO cytoplasmic C-term p65 binding region
NM_001315491.2 → NP_001302420.1 myelin protein P0 isoform L-MPZ precursor

Status: REVIEWED

Description

Transcript Variant: This transcript (1) encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (MPZ, also known as P0) results from translation termination at the upstream UAG stop codon, while the longer isoform (L-MPZ) results from UAG stop codon readthrough to the downstream UGA termination codon. This RefSeq represents the longer, C-terminally extended isoform (L-MPZ). As the UAG stop codon has been reported to specify several alternative amino acids (glutamine, tyrosine and leucine), its location in the longer isoform is denoted by an 'X'.

Source sequence(s)

BM663255, CD172418, D10537, DB210759

Consensus CDS

CCDS91087.1

UniProtKB/TrEMBL

A0A5F9ZI26

Related

ENSP00000500814.2, ENST00000672602.2

Conserved Domains (3) summary

cd05879
Location:31 → 146

Ig_P0; Immunoglobulin (Ig)-like domain of Protein zero (P0)

smart00410
Location:36 → 146

IG_like; Immunoglobulin like

pfam10570
Location:184 → 248

Myelin-PO_C; Myelin-PO cytoplasmic C-term p65 binding region