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Aliases for MPZL1 Gene

Aliases for MPZL1 Gene

  • Myelin Protein Zero Like 1 2 3 5
  • PZR 3 4
  • Immunoglobulin Family Transmembrane Protein 3
  • Myelin Protein Zero-Like Protein 1 3
  • Protein Zero Related 3
  • Protein Zero-Related 4
  • MPZL1b 3
  • PZR1b 3
  • PZRa 3
  • PZRb 3

External Ids for MPZL1 Gene

Previous GeneCards Identifiers for MPZL1 Gene

  • GC01P165326
  • GC01P163342
  • GC01P164387
  • GC01P164878
  • GC01P164422
  • GC01P165957
  • GC01P167690
  • GC01P138937

Summaries for MPZL1 Gene

GeneCards Summary for MPZL1 Gene

MPZL1 (Myelin Protein Zero Like 1) is a Protein Coding gene. Diseases associated with MPZL1 include Noonan Syndrome 1. Among its related pathways are Tyrosine Kinases / Adaptors and Cell adhesion molecules (CAMs). Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is MPZ.

UniProtKB/Swiss-Prot for MPZL1 Gene

  • 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

Additional gene information for MPZL1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MPZL1 Gene

Genomics for MPZL1 Gene

GeneHancer (GH) Regulatory Elements for MPZL1 Gene

Promoters and enhancers for MPZL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I167718 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 558.3 -0.1 -50 5.1 HDGF PKNOX1 ARID4B SIN3A YY1 ZNF143 FOS KLF13 DEK SP3 MPZL1 GC01M167719 ENSG00000250762 ENSG00000232194 TIPRL
GH01I167626 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 47.5 -90.6 -90627 8.1 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B FEZF1 YY1 POLR2B ZNF766 RCSD1 ENSG00000241666 MPZL1 DUTP6 CREG1 POU2F1 CD247
GH01I167933 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 42 +215.4 215351 5.8 CLOCK FEZF1 DMAP1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 MPC2 DCAF6 MPZL1 POU2F1 DPT
GH01I168177 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 31.5 +458.1 458127 2.9 HDGF HNRNPUL1 PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 TIPRL MPZL1 POU2F1 GPR161 MPC2 RPL34P1 GC01M168113
GH01I167219 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 27.9 -499.4 -499424 5.5 CLOCK ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 MEF2D POU2F1 ENSG00000272205 LOC284685 MPZL1 DUTP6 TADA1 GC01P167371
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MPZL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MPZL1 gene promoter:

Genomic Locations for MPZL1 Gene

Genomic Locations for MPZL1 Gene
chr1:167,721,192-167,791,919
(GRCh38/hg38)
Size:
70,728 bases
Orientation:
Plus strand
chr1:167,690,429-167,761,156
(GRCh37/hg19)

Genomic View for MPZL1 Gene

Genes around MPZL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPZL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPZL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MPZL1 Gene

Proteins for MPZL1 Gene

  • Protein details for MPZL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95297-MPZL1_HUMAN
    Recommended name:
    Myelin protein zero-like protein 1
    Protein Accession:
    O95297
    Secondary Accessions:
    • B2REB9
    • B2REC0
    • Q5R332
    • Q8IX11
    • Q9BWZ3
    • Q9NYK4
    • Q9UL20

    Protein attributes for MPZL1 Gene

    Size:
    269 amino acids
    Molecular mass:
    29082 Da
    Quaternary structure:
    • Interacts with phosphorylated PTPN11/SHP-2.
    SequenceCaution:
    • Sequence=CAI20144.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for MPZL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MPZL1 Gene

Post-translational modifications for MPZL1 Gene

  • N-glycosylated.
  • 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).
  • Glycosylation at Asn50 and Asn130
  • Modification sites at PhosphoSitePlus

Other Protein References for MPZL1 Gene

No data available for DME Specific Peptides for MPZL1 Gene

Domains & Families for MPZL1 Gene

Gene Families for MPZL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

O95297

UniProtKB/Swiss-Prot:

MPZL1_HUMAN :
  • 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.
  • Belongs to the myelin P0 protein family.
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.
Family:
  • Belongs to the myelin P0 protein family.
genes like me logo Genes that share domains with MPZL1: view

Function for MPZL1 Gene

Molecular function for MPZL1 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for MPZL1 Gene

Gene Ontology (GO) - Molecular Function for MPZL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity TAS 9792637
GO:0005515 protein binding IPI 9792637
genes like me logo Genes that share ontologies with MPZL1: view
genes like me logo Genes that share phenotypes with MPZL1: view

Animal Models for MPZL1 Gene

MGI Knock Outs for MPZL1:

Animal Model Products

  • Taconic Biosciences Mouse Models for MPZL1

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MPZL1 Gene

Localization for MPZL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MPZL1 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MPZL1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MPZL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IEA --
GO:0005925 focal adhesion HDA,IDA 21423176
GO:0009986 cell surface IDA,HDA 19581412
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MPZL1: view

Pathways & Interactions for MPZL1 Gene

genes like me logo Genes that share pathways with MPZL1: view

Pathways by source for MPZL1 Gene

1 KEGG pathway for MPZL1 Gene
2 Cell Signaling Technology pathways for MPZL1 Gene

SIGNOR curated interactions for MPZL1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MPZL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway TAS 10681522
GO:0007267 cell-cell signaling TAS 9792637
genes like me logo Genes that share ontologies with MPZL1: view

Drugs & Compounds for MPZL1 Gene

No Compound Related Data Available

Transcripts for MPZL1 Gene

Unigene Clusters for MPZL1 Gene

Myelin protein zero-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MPZL1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8
SP1: - - -
SP2: - - - -
SP3: - -
SP4: - -
SP5: - - - - - -
SP6: -
SP7:

Relevant External Links for MPZL1 Gene

GeneLoc Exon Structure for
MPZL1
ECgene alternative splicing isoforms for
MPZL1

Expression for MPZL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MPZL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MPZL1 Gene

This gene is overexpressed in Liver (16.2) and Fetal Brain (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MPZL1 Gene



Protein tissue co-expression partners for MPZL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MPZL1 Gene:

MPZL1

SOURCE GeneReport for Unigene cluster for MPZL1 Gene:

Hs.493919

mRNA Expression by UniProt/SwissProt for MPZL1 Gene:

O95297-MPZL1_HUMAN
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.

Evidence on tissue expression from TISSUES for MPZL1 Gene

  • Nervous system(4.1)
  • Intestine(2.8)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with MPZL1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MPZL1 Gene

Orthologs for MPZL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MPZL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MPZL1 33 34
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia MPZL1 33 34
  • 91.3 (n)
cow
(Bos Taurus)
Mammalia MPZL1 33 34
  • 90.71 (n)
mouse
(Mus musculus)
Mammalia Mpzl1 33 16 34
  • 84.88 (n)
rat
(Rattus norvegicus)
Mammalia Mpzl1 33
  • 84.63 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MPZL1 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves MPZL1 33 34
  • 69.52 (n)
lizard
(Anolis carolinensis)
Reptilia MPZL1 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mpzl1 33
  • 60.63 (n)
zebrafish
(Danio rerio)
Actinopterygii mpzl1l 33 34
  • 53.42 (n)
Species where no ortholog for MPZL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MPZL1 Gene

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

Paralogs for MPZL1 Gene

Paralogs for MPZL1 Gene

(4) SIMAP similar genes for MPZL1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for MPZL1 Gene

genes like me logo Genes that share paralogs with MPZL1: view

Variants for MPZL1 Gene

Sequence variations from dbSNP and Humsavar for MPZL1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000022546 -- 167,784,814(+) A/G intron_variant
rs1000080603 -- 167,762,698(+) G/A intron_variant
rs1000143127 -- 167,738,752(+) C/T intron_variant
rs1000154350 -- 167,762,437(+) C/T intron_variant
rs1000176964 -- 167,736,880(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MPZL1 Gene

Variant ID Type Subtype PubMed ID
dgv613n54 CNV loss 21841781
esv3383726 CNV insertion 20981092
esv3578239 CNV loss 25503493
esv3587852 CNV loss 21293372
esv3587853 CNV loss 21293372
nsv1002698 CNV loss 25217958
nsv1078878 OTHER inversion 25765185
nsv478807 CNV novel sequence insertion 20440878
nsv523174 CNV loss 19592680

Variation tolerance for MPZL1 Gene

Residual Variation Intolerance Score: 24.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.36; 7.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MPZL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MPZL1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPZL1 Gene

Disorders for MPZL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MPZL1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
noonan syndrome 1
  • ns1
- elite association - COSMIC cancer census association via MalaCards
Search MPZL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MPZL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MPZL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MPZL1 Gene

Publications for MPZL1 Gene

  1. Identification of a variant form of PZR lacking immunoreceptor tyrosine-based inhibitory motifs. (PMID: 12684038) Zhao R … Zhao ZJ (Biochemical and biophysical research communications 2003) 3 4 22 58
  2. Novel mesenchymal and haematopoietic cell isoforms of the SHP-2 docking receptor, PZR: identification, molecular cloning and effects on cell migration. (PMID: 12410637) Zannettino AC … Watt SM (The Biochemical journal 2003) 3 4 22 58
  3. Purification and cloning of PZR, a binding protein and putative physiological substrate of tyrosine phosphatase SHP-2. (PMID: 9792637) Zhao ZJ … Zhao R (The Journal of biological chemistry 1998) 2 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 44 58

Products for MPZL1 Gene

Sources for MPZL1 Gene

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