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    MPZL1 myelin protein zero like 1 [ Homo sapiens (human) ]

    Gene ID: 9019, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MPZL1provided by HGNC
    Official Full Name
    myelin protein zero like 1provided by HGNC
    Primary source
    HGNC:HGNC:7226
    See related
    Ensembl:ENSG00000197965 MIM:604376; AllianceGenome:HGNC:7226
    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
    Also known as
    PZR; PZRa; PZRb; PZR1b; MPZL1b
    Summary
    Predicted to enable structural molecule activity. Predicted to be involved in cell surface receptor protein tyrosine kinase signaling pathway and cell-cell signaling. Located in cell surface and focal adhesion. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in gall bladder (RPKM 26.1), placenta (RPKM 23.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MPZL1 in Genome Data Viewer
    Location:
    1q24.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (167721982..167791919)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (167064939..167143403)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (167691219..167761156)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1534 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:167688821-167689320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1535 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:167691547-167692047 Neighboring gene tRNA-Pro (anticodon CGG) 1-1 Neighboring gene tRNA-Pro (anticodon AGG) 2-1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:167697263-167697762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2053 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:167739237-167739808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:167740743-167741244 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:167761820-167761968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1538 Neighboring gene adenylate cyclase 10 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:167830579-167831095 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:167831096-167831613 Neighboring gene Sharpr-MPRA regulatory region 4419 Neighboring gene DDB1 and CUL4 associated factor 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:167882400-167883076 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:167883077-167883753 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2055 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1541 Neighboring gene mitochondrial pyruvate carrier 2

    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 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. Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family. Gallardo E, et al. J Neurol, 2009 Dec. PMID 19629567
    2. MPZL1 promotes tumor cell proliferation and migration via activation of Src kinase in ovarian cancer. Chen D, et al. Oncol Rep, 2019 Aug. PMID 31233194, Free PMC Article
    3. MPZL1 is highly expressed in advanced gallbladder carcinoma and promotes the aggressive behavior of human gallbladder carcinoma GBC‑SD cells. Liu X, et al. Mol Med Rep, 2019 Sep. PMID 31322261, Free PMC Article
    4. MPZL1/PZR, a novel candidate predisposing schizophrenia in Han Chinese. He G, et al. Mol Psychiatry, 2006 Aug. PMID 16702974
    5. Identification of a variant form of PZR lacking immunoreceptor tyrosine-based inhibitory motifs. Zhao R, et al. Biochem Biophys Res Commun, 2003 Apr 18. PMID 12684038

    See all (71) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MPZL1 Promotes Lung Adenocarcinoma Progression by Enhancing Tumor Proliferation, Invasion, Migration, and Suppressing Immune Function via Transforming Growth Factor-beta1.
      Title: MPZL1 Promotes Lung Adenocarcinoma Progression by Enhancing Tumor Proliferation, Invasion, Migration, and Suppressing Immune Function via Transforming Growth Factor-β1.
    2. MPZL1 upregulation promotes tumor metastasis and correlates with unfavorable prognosis in non-small cell lung cancer.
      Title: MPZL1 upregulation promotes tumor metastasis and correlates with unfavorable prognosis in non-small cell lung cancer.
    3. LncRNA TNFRSF10A-AS1 promotes gastric cancer by directly binding to oncogenic MPZL1 and is associated with patient outcome.
      Title: LncRNA TNFRSF10A-AS1 promotes gastric cancer by directly binding to oncogenic MPZL1 and is associated with patient outcome.
    4. High MPZL1 expression is associated with proliferation and metastasis of ovarian cancer.
      Title: MPZL1 promotes tumor cell proliferation and migration via activation of Src kinase in ovarian cancer.
    5. The present study showed that the expression and protein levels of MPZL1 were significantly higher in gallbladder carcinoma tissues, especially in patients diagnosed with advanced tumor stages.
      Title: MPZL1 is highly expressed in advanced gallbladder carcinoma and promotes the aggressive behavior of human gallbladder carcinoma GBC‑SD cells.
    6. Data indicate that myelin protein zero-like 1 (PZR) may promote the invasion and migration of colorectal cancer (CRC) cells through increasing the phosphorylation of focal adhesion kinase (FAK) and protooncogene SRC (Src).
      Title: PZR promotes metastasis of colorectal cancer through increasing FAK and Src phosphorylation.
    7. These data demonstrate that the formation of this MPZL1-PTPN11-GRB2 complex is triggered by the attachment of HER2+ breast cancer cells to fibronectin.
      Title: MPZL1 forms a signalling complex with GRB2 adaptor and PTPN11 phosphatase in HER2-positive breast cancer cells.
    8. dimerization of MPZL1 participates in control of its signal transmission in cell adhesion.
      Title: Structural and biochemical studies of the extracellular domain of Myelin protein zero-like protein 1.
    9. MPZL1 is a target gene within the 1q24.1-24.2 amplicon that plays a pivotal role in HCC cell migration and tumor metastasis, and a novel MPZL1/Src/cortactin signaling cascade.
      Title: Amplification of MPZL1/PZR promotes tumor cell migration through Src-mediated phosphorylation of cortactin in hepatocellular carcinoma.
    10. Clinico-electrophysiological features and MRI findings are described in leg musculature from three patients belonging to a CMT2J pedigree due to MPZ Thr124Met mutation.
      Title: Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    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 and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.
    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of MPZL1 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21047

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural molecule activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell surface receptor protein tyrosine kinase signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cell-cell signaling TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell surface HDA PubMed 
    located_in focal adhesion HDA PubMed 
    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 1
    Names
    immunoglobulin family transmembrane protein
    protein zero related

    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_001146191.2 → NP_001139663.1  myelin protein zero-like protein 1 isoform c precursor

      See identical proteins and their annotated locations for NP_001139663.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks three alternate exons in the 3' coding region that results in a frameshift, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AK297112, AW292498, Z99943
      Consensus CDS
      CCDS53425.1
      UniProtKB/Swiss-Prot
      O95297
      Related
      ENSP00000375968.3, ENST00000392121.7
      Conserved Domains (1) summary
      cl11960
      Location:39 → 86
      Ig; Immunoglobulin domain

    2. NM_003953.6 → NP_003944.1  myelin protein zero-like protein 1 isoform a precursor

      See identical proteins and their annotated locations for NP_003944.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AW292498, AY359019, DA725074, Z99943
      Consensus CDS
      CCDS1264.1
      UniProtKB/Swiss-Prot
      B2REB9, B2REC0, O95297, Q5R332, Q8IX11, Q9BWZ3, Q9NYK4, Q9UL20
      UniProtKB/TrEMBL
      A0A024R8Y6, A8K5D4, Q5U0H8
      Related
      ENSP00000352513.2, ENST00000359523.7
      Conserved Domains (2) summary
      cd05715
      Location:39 → 154
      Ig_P0-like; Immunoglobulin (Ig)-like domain of Protein zero (P0) and similar proteins
      smart00410
      Location:43 → 154
      IG_like; Immunoglobulin like

    3. NM_024569.5 → NP_078845.3  myelin protein zero-like protein 1 isoform b precursor

      See identical proteins and their annotated locations for NP_078845.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AF478447, AW292498, DA725074, Z99943
      Consensus CDS
      CCDS44273.1
      UniProtKB/TrEMBL
      Q9UEL6
      Related
      ENSP00000420455.1, ENST00000474859.5
      Conserved Domains (2) summary
      cd05715
      Location:39 → 154
      Ig_P0-like; Immunoglobulin (Ig)-like domain of Protein zero (P0) and similar proteins
      smart00410
      Location:43 → 154
      IG_like; Immunoglobulin like

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      167721982..167791919
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047433610.1 → XP_047289566.1  myelin protein zero-like protein 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      167064939..167143403
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339498.1 → XP_054195473.1  myelin protein zero-like protein 1 isoform X3

    2. XM_054339497.1 → XP_054195472.1  myelin protein zero-like protein 1 isoform X2

      UniProtKB/Swiss-Prot
      B2REB9, B2REC0, O95297, Q5R332, Q8IX11, Q9BWZ3, Q9NYK4, Q9UL20
      UniProtKB/TrEMBL
      A0A024R8Y6, A8K5D4

    3. XM_054339496.1 → XP_054195471.1  myelin protein zero-like protein 1 isoform X2

      UniProtKB/Swiss-Prot
      B2REB9, B2REC0, O95297, Q5R332, Q8IX11, Q9BWZ3, Q9NYK4, Q9UL20
      UniProtKB/TrEMBL
      A0A024R8Y6, A8K5D4

    4. XM_054339495.1 → XP_054195470.1  myelin protein zero-like protein 1 isoform X2

      UniProtKB/Swiss-Prot
      B2REB9, B2REC0, O95297, Q5R332, Q8IX11, Q9BWZ3, Q9NYK4, Q9UL20
      UniProtKB/TrEMBL
      A0A024R8Y6, A8K5D4

    5. XM_054339499.1 → XP_054195474.1  myelin protein zero-like protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95297.1 GenPept UniProtKB/Swiss-Prot:O95297

    Gene LinkOut

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

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