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MPZL3 myelin protein zero like 3 [ Homo sapiens (human) ]

Gene ID: 196264, updated on 5-Mar-2024

Summary

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Official Symbol
MPZL3provided by HGNC
Official Full Name
myelin protein zero like 3provided by HGNC
Primary source
HGNC:HGNC:27279
See related
Ensembl:ENSG00000160588 MIM:611707; AllianceGenome:HGNC:27279
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 involved in cell adhesion. Predicted to act upstream of or within extracellular matrix organization and hair cycle. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in skin (RPKM 9.4), esophagus (RPKM 9.0) and 19 other tissues See more
Orthologs
mouse all
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Genomic context

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See MPZL3 in Genome Data Viewer
Location:
11q23.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (118226690..118252365, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (118243079..118268721, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (118097405..118123080, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene sodium voltage-gated channel beta subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5584 Neighboring gene junction adhesion molecule like Neighboring gene Sharpr-MPRA regulatory region 10108 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 18 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:118111758-118112957 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118122400-118122961 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118122962-118123522 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5587 Neighboring gene myelin protein zero like 2 Neighboring gene Sharpr-MPRA regulatory region 14251 Neighboring gene CD3 epsilon subunit of T-cell receptor complex

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. The human orthologue of murine Mpzl3 with predicted adhesive and immune functions is a potential candidate gene for immune-related hereditary hair loss. Racz P, et al. Exp Dermatol, 2009 Mar. PMID 19054061, Free PMC Article
  2. Mutation in Mpzl3, a novel [corrected] gene encoding a predicted [corrected] adhesion protein, in the rough coat (rc) mice with severe skin and hair abnormalities. Cao T, et al. J Invest Dermatol, 2007 Jun. PMID 17273165, Free PMC Article
  3. A secreted protein microarray platform for extracellular protein interaction discovery. Ramani SR, et al. Anal Biochem, 2012 Jan 15. PMID 21982860
  4. Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. Del-Aguila JL, et al. Pharmacogenomics J, 2014 Feb. PMID 23400010, Free PMC Article
  5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. Zhang Z, et al. Protein Sci, 2004 Oct. PMID 15340161, Free PMC Article

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Homozygous or compound heterozygous mutations of MPZL3 might be involved in immune-mediated human hereditary disorders with hair loss.
    Title: The human orthologue of murine Mpzl3 with predicted adhesive and immune functions is a potential candidate gene for immune-related hereditary hair loss.
Submit: New GeneRIF Correction

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
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
  
involved_in hair cycle IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
myelin protein zero-like protein 3

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_001286152.2 → NP_001273081.1  myelin protein zero-like protein 3 isoform b precursor

    See identical proteins and their annotated locations for NP_001273081.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
    Source sequence(s)
    AP002800, BC113586, BC143897, DC417020
    Consensus CDS
    CCDS66241.1
    UniProtKB/Swiss-Prot
    Q6UWV2
    Related
    ENSP00000432106.1, ENST00000527472.1
    Conserved Domains (2) summary
    smart00410
    Location:27 → 135
    IG_like; Immunoglobulin like
    cl11960
    Location:23 → 125
    Ig; Immunoglobulin domain

  2. NM_198275.3 → NP_938016.1  myelin protein zero-like protein 3 isoform a precursor

    See identical proteins and their annotated locations for NP_938016.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    AP002800, BC113586, DC417020
    Consensus CDS
    CCDS8392.1
    UniProtKB/Swiss-Prot
    A8K025, B4DLD5, B4E2I8, Q6UWV2
    Related
    ENSP00000278949.4, ENST00000278949.9
    Conserved Domains (2) summary
    smart00410
    Location:39 → 147
    IG_like; Immunoglobulin like
    cl11960
    Location:33 → 137
    Ig; Immunoglobulin domain

RNA

  1. NR_104404.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks three alternate internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
    Source sequence(s)
    AK310966, AP002800, DC417020

  2. NR_104405.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK296951, AK304292, AP002800, DC417020

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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    118226690..118252365 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718775.3 → XP_006718838.1  myelin protein zero-like protein 3 isoform X1

    Conserved Domains (2) summary
    smart00410
    Location:21 → 129
    IG_like; Immunoglobulin like
    cl11960
    Location:15 → 119
    Ig; Immunoglobulin domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    118243079..118268721 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367949.1 → XP_054223924.1  myelin protein zero-like protein 3 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6UWV2.1 GenPept UniProtKB/Swiss-Prot:Q6UWV2

Gene LinkOut

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