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

    Gene ID: 196264, updated on 10-Dec-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 located in membrane. Predicted to be active in plasma membrane. Implicated in lung cancer. [provided by Alliance of Genome Resources, Dec 2024]
    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_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (118226690..118252365, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (118243079..118268721, complement)
    RS_2024_09 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)

    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_2024_08

    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

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

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