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MPZ myelin protein zero [ Homo sapiens (human) ]

Gene ID: 4359, updated on 6-Jul-2014
Official Symbol
MPZprovided by HGNC
Official Full Name
myelin protein zeroprovided by HGNC
Primary source
HGNC:7225
See related
Ensembl:ENSG00000158887; HPRD:01159; MIM:159440; Vega:OTTHUMG00000034341
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; CMT1; CMT1B; CMT2I; CMT2J; CMT4E; CMTDI3; CMTDID; HMSNIB
Summary
This gene encodes a major structural protein of peripheral myelin. Mutations in this gene result in the autosomal dominant form of Charcot-Marie-Tooth disease type 1 and other polyneuropathies. [provided by RefSeq, Apr 2010]
Location:
1q23.3
Exon count :
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (161304735..161309972, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161274525..161279762, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene translocase of outer mitochondrial membrane 40 homolog (yeast)-like Neighboring gene nuclear receptor subfamily 1, group I, member 3 Neighboring gene Purkinje cell protein 4 like 1 Neighboring gene succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa Neighboring gene chromosome 1 open reading frame 192 Neighboring gene ribonucleotide reductase M2 polypeptide pseudogene 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
    Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
  • Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
    Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
  • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
    Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
structural molecule activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell death IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction maintenance IEA
Inferred from Electronic Annotation
more info
 
synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
Preferred Names
myelin protein P0
Names
myelin protein P0
myelin peripheral protein
Charcot-Marie-Tooth neuropathy 1B

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

  1. NG_008055.1 

    Range
    5001..10238
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_256

mRNA and Protein(s)

  1. NM_000530.6NP_000521.2  myelin protein P0 precursor

    See proteins identical to NP_000521.2

    Status: REVIEWED

    Source sequence(s)
    AK313555, BC006491, CD515400, DB210759
    Consensus CDS
    CCDS1229.2
    UniProtKB/Swiss-Prot
    P25189
    Related
    ENSP00000432943, OTTHUMP00000032235, ENST00000533357, OTTHUMT00000082987
    Conserved Domains (3) summary
    cd05879
    Location:31146
    Blast Score: 624
    Ig_P0; Immunoglobulin (Ig)-like domain of Protein zero (P0)
    smart00410
    Location:36146
    Blast Score: 120
    IG_like; Immunoglobulin like
    pfam10570
    Location:179248
    Blast Score: 355
    Myelin-PO_C; Myelin-PO cytoplasmic C-term p65 binding region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    161304735..161309972
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    132631395..132636601
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    162670753..162675990
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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