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MPZL1 Gene

protein-coding   GIFtS: 62
GCID: GC01P167690

Myelin Protein Zero-Like 1

  Search for MPZL1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Myelin Protein Zero-Like 11 2     PZRa2
Protein Zero-Related2 3     PZRb2
PZR2 3     Immunoglobulin Family Transmembrane Protein2
MPZL1b2     Myelin Protein Zero-Like Protein 12
PZR1b2     Protein Zero Related2

External Ids:    HGNC: 72261   Entrez Gene: 90192   Ensembl: ENSG000001979657   OMIM: 6043765   UniProtKB: O952973   
ORGUL members:         

Export aliases for MPZL1 gene to outside databases

Previous GC identifers: GC01P165326 GC01P163342 GC01P164387 GC01P164878 GC01P164422 GC01P165957 GC01P138937


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MPZL1 Gene:
MPZL1 (myelin protein zero-like 1) is a protein-coding gene. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is MPZL2.

UniProtKB/Swiss-Prot: MPZL1_HUMAN, O95297
Function: Cell surface receptor, which is involved in signal transduction processes. Recruits PTPN11/SHP-2 to the
cell membrane and is a putative substrate of PTPN11/SHP-2. Is a major receptor for concanavalin-A (ConA) and is
involved in cellular signaling induced by ConA, which probably includes Src family tyrosine-protein kinases.
Isoform 3 seems to have a dominant negative role; it blocks tyrosine phosphorylation of MPZL1 induced by ConA.
Isoform 1, but not isoform 2 and isoform 3, may be involved in regulation of integrin-mediated cell motility

Gene Wiki entry for MPZL1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MPZL1 gene promoter:
         Nkx3-1 v4   Nkx2-2   FOXD3   Nkx3-1 v1   GATA-1   FOXL1   Nkx3-1 v2   S8   Nkx3-1 v3   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMPZL1 promoter sequence
   Search Chromatin IP Primers for MPZL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MPZL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q24.2   Ensembl cytogenetic band:  1q24.2   HGNC cytogenetic band: 1q24.2

MPZL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MPZL1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P167690:  view genomic region     (about GC identifiers)

Start:
167,690,429 bp from pter      End:
167,761,156 bp from pter
Size:
70,728 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MPZL1_HUMAN, O95297 (See protein sequence)
Recommended Name: Myelin protein zero-like protein 1 precursor  
Size: 269 amino acids; 29082 Da
Subunit: Interacts with phosphorylated PTPN11/SHP-2
Sequence caution: Sequence=CAI20144.2; Type=Erroneous gene model prediction;
Secondary accessions: B2REB9 B2REC0 Q5R332 Q8IX11 Q9BWZ3 Q9NYK4 Q9UL20
Alternative splicing: 5 isoforms:  O95297-1   O95297-2   O95297-3   O95297-4   O95297-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MPZL1: NX_O95297

Explore proteomics data for MPZL1 at MOPED

Post-translational modifications: 

  • Phosphorylated on tyrosine residues upon stimulation with pervanadate and concanavalin-A (ConA). Phosphorylation
    at Tyr-241 and Tyr-263 is required for interaction with PTPN11/SHP-2. Dephosphorylated by PTPN11/SHP-2 (in vitro)1
  • N-glycosylated1
  • Ubiquitination2 at Lys257
  • Glycosylation2 at Asn50, Asn130
  • Modification sites at PhosphoSitePlus

  • See MPZL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001139663.1  NP_003944.1  NP_078845.3  

    ENSEMBL proteins: 
     ENSP00000352513   ENSP00000399490   ENSP00000375968   ENSP00000420455   ENSP00000356827  

    MPZL1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    VSET: Immunoglobulin superfamily / V-set domain containing

    5 InterPro protein domains:
     IPR003596 Ig_V-set_subgr
     IPR013783 Ig-like_fold
     IPR013106 Ig_V-set
     IPR007110 Ig-like_dom
     IPR000920 Myelin_P0

    Graphical View of Domain Structure for InterPro Entry O95297

    ProtoNet protein and cluster: O95297

    3 Blocks protein domains:
    IPB000920 Myelin P0 protein
    IPB003596 Immunoglobulin V-type
    IPB013106 Immunoglobulin V-set


    UniProtKB/Swiss-Prot: MPZL1_HUMAN, O95297
    Domain: Contains 2 copies of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based
    inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif
    can bind the SH2 domain of several SH2-containing phosphatases
    Similarity: Belongs to the myelin P0 protein family
    Similarity: Contains 1 Ig-like V-type (immunoglobulin-like) domain


    Find genes that share domains with MPZL1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MPZL1_HUMAN, O95297
    Function: Cell surface receptor, which is involved in signal transduction processes. Recruits PTPN11/SHP-2 to the
    cell membrane and is a putative substrate of PTPN11/SHP-2. Is a major receptor for concanavalin-A (ConA) and is
    involved in cellular signaling induced by ConA, which probably includes Src family tyrosine-protein kinases.
    Isoform 3 seems to have a dominant negative role; it blocks tyrosine phosphorylation of MPZL1 induced by ConA.
    Isoform 1, but not isoform 2 and isoform 3, may be involved in regulation of integrin-mediated cell motility

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity TAS9792637
    GO:0005515protein binding IPI10681522
         
    Find genes that share ontologies with MPZL1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for MPZL1:
     Decreased influenza A virus in  Decreased telomerase activity  Increased cell number in G2M,  

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Mpzl1):
     normal 

    Find genes that share phenotypes with MPZL1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MPZL1
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    hsa-mir-192-5p (MIRT026720), hsa-mir-155-5p (MIRT001534), hsa-mir-215-5p (MIRT024733), hsa-mir-766-3p (MIRT039008)

    Block miRNA regulation of human, mouse, rat MPZL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MPZL1 (see all 39):
    hsa-miR-3607-3p hsa-miR-136 hsa-miR-642a hsa-miR-548k hsa-miR-938 hsa-miR-578 hsa-miR-3171 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidMPZL1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MPZL1_HUMAN, O95297: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytoskeleton1
    endoplasmic reticulum1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane TAS9792637
    GO:0016020membrane ----

    Find genes that share ontologies with MPZL1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MPZL1 About    
    See pathways by source

    SuperPathContained pathways About
    1Tyrosine Kinases / Adaptors
    Tyrosine Kinases / Adaptors
    2Cell adhesion molecules (CAMs)
    Cell adhesion molecules (CAMs)
    3Adhesion
    Adhesion


    Find genes that share SuperPaths with MPZL1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for MPZL1
        Tyrosine Kinases / Adaptors
    Adhesion


    1 Kegg Pathway  (Kegg details for MPZL1):
        Cell adhesion molecules (CAMs)

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MPZL1
    Interactions:

        GeneGlobe Interaction Network for MPZL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for MPZL1 (O952971, 2, 3 ENSP000003525134) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTPN11Q061241, 2, 3, ENSP000003409444EBI-963338,EBI-297779 MINT-8030561 MINT-8032236 I2D: score=6 STRING: ENSP00000340944
    SRCP129313, ENSP000003509414I2D: score=3 STRING: ENSP00000350941
    EXOSC4Q9NPD33, ENSP000003154764I2D: score=2 STRING: ENSP00000315476
    UBCENSP000003448184STRING: ENSP00000344818
    CLDN7ENSP000003534754STRING: ENSP00000353475
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007169transmembrane receptor protein tyrosine kinase signaling pathway TAS10681522
    GO:0007267cell-cell signaling TAS9792637

    Find genes that share ontologies with MPZL1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
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    Browse Tocris compounds for MPZL1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MPZL1 gene (3 alternative transcripts): 
    NM_001146191.1  NM_003953.5  NM_024569.4  

    Unigene Cluster for MPZL1:

    Myelin protein zero-like 1
    Hs.493919  [show with all ESTs]
    Unigene Representative Sequence: NM_003953
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000487858 ENST00000464954 ENST00000359523(uc001geo.3 uc001gep.3 uc001geq.3 uc009wvh.3)
    ENST00000448405 ENST00000392121 ENST00000465787(uc001gen.4) ENST00000474859
    ENST00000474729 ENST00000367853 ENST00000403379 ENST00000498279
    miRNA
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    Block miRNA regulation of human, mouse, rat MPZL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MPZL1 (see all 39):
    hsa-miR-3607-3p hsa-miR-136 hsa-miR-642a hsa-miR-548k hsa-miR-938 hsa-miR-578 hsa-miR-3171 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidMPZL1 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat MPZL1
      QuantiFast Probe-based Assays in human, mouse, rat MPZL1

    Additional mRNA sequence: 

    AF087020.1 AF092425.1 AF095726.1 AF095727.1 AF181660.1 AF239756.1 AF478447.1 AK024700.1 
    AK075334.1 AK291249.1 AK297112.1 AK307250.1 AK315546.1 AL035302.1 AL035308.1 AY359019.1 
    BC000984.1 BC007881.2 BC019890.1 BC050613.1 BT019542.1 CR542160.1 

    23 DOTS entries:

    DT.75169571  DT.121383759  DT.440141  DT.100846337  DT.40218461  DT.121383767  DT.100846336  DT.121383782 
    DT.100846335  DT.40108538  DT.92445694  DT.92445700  DT.95160660  DT.99983664  DT.121383740  DT.121383768 
    DT.80100410  DT.95299267  DT.121383758  DT.40268087  DT.91828626  DT.91912072  DT.95277364 

    Selected AceView cDNA sequences (see all 445):

    AI097437 BQ423517 CA447774 AL040224 BU633448 F02035 BU151138 AL035308 
    AI348188 CA428634 BF593823 BM786033 AI222740 CA407807 AI580195 AW366976 
    BU182686 CD244722 BM469116 AW366962 BQ227907 AA337279 AA304629 BF917259 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MPZL1 (see all 7)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8
    SP1:        -           -                 -                                             
    SP2:        -           -                 -     -                                       
    SP3:                    -                 -                                             
    SP4:        -           -                                                               
    SP5:        -           -     -     -     -     -                                       


    ECgene alternative splicing isoforms for MPZL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MPZL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTTCGTCCT
    MPZL1 Expression
    About this image


    MPZL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Smooth Muscle (Muscoskeletal System)
    MPZL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MPZL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.493919

    UniProtKB/Swiss-Prot: MPZL1_HUMAN, O95297
    Tissue specificity: Widely expressed with highest levels in heart, placenta, kidney and pancreas. Isoform 3 is
    relatively abundant in hematopoietic tissues and fetal liver. Isoform 1 and isoform 3 are expressed in CD14- PB
    monocytes and pre-B cell progenitors. Isoform 3 appears to be the major isoform in CD34- promyelocytic and
    promonocytic cells. During differentiation in monocytic cells, the expression level of isoform 3 decreases and
    that of isoform 1 increases. Isoform 1 is prominent in stromal cells and, to a lesser extent, in umbilical vein
    endothelial cells and erythroid progenitors. Isoform 2 is expressed in a erythroid progenitor cell line

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPZL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MPZL1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mpzl11 , 5 myelin protein zero-like 11, 5 84.88(n)1
    83.27(a)1
      1 (72.94 cM)5
    684811  NM_001083897.11  NP_001077366.11 
     1655921815 
    chicken
    (Gallus gallus)
    Aves MPZL11 myelin protein zero-like 1 69.52(n)
    66.42(a)
      418441  XM_416652.4  XP_416652.4 
    lizard
    (Anolis carolinensis)
    Reptilia MPZL16
    myelin protein zero-like 1
    66(a)
    1 ↔ 1
    3(163918442-163931585)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mpzl11 myelin protein zero-like 1 60.63(n)
    55.6(a)
      100490085  XM_004912268.1  XP_004912325.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mpzl1l1 myelin protein zero-like 1 like 53.42(n)
    47.44(a)
      555163  NM_001257340.1  NP_001244269.1 


    ENSEMBL Gene Tree for MPZL1 (if available)
    TreeFam Gene Tree for MPZL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MPZL1 gene
    MPZL22  SCN2B2  MPZ2  MPZL32  SCN4B2  
    4 SIMAP similar genes for MPZL1 using alignment to 4 protein entries:     MPZL1_HUMAN (see all proteins):
    MPZ    P0    MPZL2    MPZL3

    Find genes that share paralogs with MPZL1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for MPZL1
    PGOHUM00000232828


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MPZL1 (see all 1539)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs109187411,2
    C,F--167689209(+) ACGGAG/ATTAAA 3 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1403656021,2
    --167689328(+) GGGTCA/CGCGTG 3 -- us2k10--------
    rs584952281,2
    --167689435(+) CAATGA/CCTTTC 3 -- us2k10--------
    rs1861771371,2
    --167689463(+) CCATAC/GATAAC 3 -- us2k10--------
    rs1503025831,2
    C--167689505(+) CTACCC/GGGCTT 3 -- us2k10--------
    rs1914699831,2
    --167689526(+) GGCCCA/GGGCCT 3 -- us2k10--------
    rs1137489531,2
    C,F--167689608(+) AAAACA/TATATG 3 -- us2k13Minor allele frequency- T:0.40CSA 5
    rs1995496571,2
    C--167689636(+) CTCTC-/AAGTTC 3 -- us2k10--------
    rs1407841111,2
    --167689802(+) CCTCCC/TGAAGT 3 -- us2k10--------
    rs109187421,2
    C,F--167689839(+) CACCCG/AGCCCT 3 -- us2k13Minor allele frequency- A:0.10CSA WA 122

    HapMap Linkage Disequilibrium report for MPZL1 (167690429 - 167761156 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MPZL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv268743CNV Insertion20981092
    nsv523174CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MPZL1
    DNA2.0 Custom Variant and Variant Library Synthesis for MPZL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604376    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for MPZL1:
    Noonan syndrome

    Find genes that share disorders with MPZL1           About GenesLikeMe

    Genetic Association Database (GAD): MPZL1
    Human Genome Epidemiology (HuGE) Navigator: MPZL1 (4 documents)

    Export disorders for MPZL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MPZL1 gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with MPZL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Purification and cloning of PZR, a binding protein and putative physiological substrate of tyrosine phosphatase SHP-2. (PubMed id 9792637)1, 2, 3 Zhao Z.J. and Zhao R. (J. Biol. Chem. 1998)
    2. Novel mesenchymal and haematopoietic cell isoforms of the SHP-2 docking receptor, PZR: identification, molecular cloning and effects on cell migration. (PubMed id 12410637)1, 2, 9 Zannettino A.C.W.... Watt S.M. (Biochem. J. 2003)
    3. Identification of a variant form of PZR lacking immunoreceptor tyrosine-based inhibitory motifs. (PubMed id 12684038)1, 2, 9 Zhao R. and Zhao Z.J. (Biochem. Biophys. Res. Commun. 2003)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PubMed id 19536175)1, 4 Ehret G.B....Chakravarti A. (Eur. J. Hum. Genet. 2009)
    6. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PubMed id 19064610)1, 4 Cheung C.L....Kung A.W. (Hum. Mol. Genet. 2009)
    7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    8. MPZL1/PZR, a novel candidate predisposing schizophrenia in Han Chinese. (PubMed id 16702974)1, 4 He G....He L. (Mol. Psychiatry 2006)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9019 HGNC: 7226 AceView: MPZL1 Ensembl:ENSG00000197965 euGenes: HUgn9019
    ECgene: MPZL1 Kegg: 9019 H-InvDB: MPZL1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MPZL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for MPZL1 gene:
    Search GeneIP for patents involving MPZL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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