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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ZAR1 Gene

protein-coding   GIFtS: 43
GCID: GC04P048492

Zygote Arrest 1

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Zygote Arrest 11 2
Oocyte-Specific Maternal Effect Factor2 3
Zygote Arrest Protein 12

External Ids:    HGNC: 204361   Entrez Gene: 3263402   Ensembl: ENSG000001822237   OMIM: 6075205   UniProtKB: Q86SH23   

Export aliases for ZAR1 gene to outside databases

Previous GC identifers: GC04U900018 GC04P048342 GC04P048407 GC04P048333 GC04P048187 GC04P047812


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ZAR1 Gene:
This maternal effect gene is oocyte-specific and encodes a protein that is thought to function in the initiation
of embryogenesis. A similar protein in mouse is required for female fertility. (provided by RefSeq, Jul 2013)

GeneCards Summary for ZAR1 Gene: 
ZAR1 (zygote arrest 1) is a protein-coding gene. Diseases associated with ZAR1 include melanoma. An important paralog of this gene is ZAR1L.

UniProtKB/Swiss-Prot: ZAR1_HUMAN, Q86SH2
Function: Essential for female fertility. May play a role in the oocyte-to-embryo transition (By similarity)




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.2  NT_006238.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ZAR1 gene promoter:
         MEF-2A   FAC1   AML1a   HOXA3   aMEF-2   HNF-1A   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZAR1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ZAR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZAR1


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

Entrez Gene cytogenetic band: 4p11   Ensembl cytogenetic band:  4p11   HGNC cytogenetic band: 4p11

ZAR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZAR1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P048492:  view genomic region     (about GC identifiers)

Start:
48,492,269 bp from pter      End:
48,496,424 bp from pter
Size:
4,156 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ZAR1_HUMAN, Q86SH2 (See protein sequence)
Recommended Name: Zygote arrest protein 1  
Size: 424 amino acids; 45873 Da
Subcellular location: Cytoplasm (By similarity)

Explore the universe of human proteins at neXtProt for ZAR1: NX_Q86SH2

Explore proteomics data for ZAR1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q86SH2

  • ZAR1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ZAR1 Protein Expression
    REFSEQ proteins: NP_783318.1  
    ENSEMBL proteins: 
     ENSP00000329803  

    Human Recombinant Protein Products for ZAR1: 
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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    ZAR1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR026775 Zar1
     IPR027377 zf-3CxxC

    Graphical View of Domain Structure for InterPro Entry Q86SH2

    ProtoNet protein and cluster: Q86SH2

    UniProtKB/Swiss-Prot: ZAR1_HUMAN, Q86SH2
    Similarity: Belongs to the ZAR1 family


    ZAR1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ZAR1_HUMAN, Q86SH2
    Function: Essential for female fertility. May play a role in the oocyte-to-embryo transition (By similarity)

    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Zar1):

     other  reproductive system 

    ZAR1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Zar1tm1Zuk for ZAR1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ZAR1 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZAR1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ZAR1

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development IEA--

    ZAR1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ZAR1

    Search CenterWatch for drugs/clinical trials and news about ZAR1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ZAR1 gene: 
    NM_175619.2  

    Unigene Cluster for ZAR1:

    Zygote arrest 1
    Hs.276457  [show with all ESTs]
    Unigene Representative Sequence: NM_175619
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000327939(uc003gyd.3)
    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate ZAR1:
    hsa-miR-106a*
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    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ZAR1
    Sirion Biotech Customized lentivirus for stable overexpression of ZAR1 
                         Customized lentivirus expression plasmids for stable overexpression of ZAR1 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ZAR1
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ZAR1

    Additional mRNA sequence: 

    AY191416.1 BC136265.1 

    1 DOTS entry:

    DT.91723347 

    4 AceView cDNA sequences:

    AY191416 NM_175619 AI217763 BF742595 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ZAR1 expression in normal human tissues (normalized intensities)      ZAR1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAGGCAGTG
    ZAR1 Expression
    About this image


    ZAR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Secondary Oocyte Antral Follicle
             oocyte   
     
     Gonad
             Secondary Oocyte Antral Follicle

    See ZAR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ZAR1

    SOURCE GeneReport for Unigene cluster: Hs.276457

    UniProtKB/Swiss-Prot: ZAR1_HUMAN, Q86SH2
    Tissue specificity: Ovary and testis

        SABiosciences Custom PCR Arrays for ZAR1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ZAR1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZAR1

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ZAR1 gene from 5/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Zar11 , 5 zygote arrest 11, 5 72.05(n)1
    61.28(a)1
      5 (38.44 cM)5
    3177551  NM_174877.31  NP_777366.11 
     725771145 
    chicken
    (Gallus gallus)
    Aves LOC1008576041 zygote arrest protein 1-like 70.47(n)
    74.09(a)
      100857604  XM_003641208.1  XP_003641256.1 
    lizard
    (Anolis carolinensis)
    Reptilia ZAR16
    zygote arrest 1
    62(a)
    1 ↔ 1
    GL343293.1(878005-884661)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.258492 Xenopus laevis zygote arrest 1 (Zar1) mRNA, complete more 81.44(n)    AY283176.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zar12 zygote arrest 1 77.19(n)   369189  AY283178.1 


    ENSEMBL Gene Tree for ZAR1 (if available)
    TreeFam Gene Tree for ZAR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ZAR1 gene
    ZAR1L2  

    ZAR1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ZAR1
    PGOHUM00000241100


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/109 SNPs in ZAR1 are shown (see all 109)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs107551821,2
    C,H--48492135(+) GTTTCC/TGTAGG 1 -- us2k112Minor allele frequency- T:0.02NA WA CSA EA 374
    rs99979321,2
    C,H--48492188(+) GTGGCT/AGGAAG 1 -- us2k111Minor allele frequency- A:0.02NA WA CSA EA 373
    rs100311201,2
    C,F,A,H--48492213(+) TGCAGC/TGTGCG 1 -- us2k19Minor allele frequency- T:0.39NA WA EA 370
    rs109385331,2
    C--48492287(+) GCGGCG/TGCGGG 1 -- us2k12Minor allele frequency- T:0.40NA EA 122
    rs100084441,2
    C,H--48492434(+) CAGCAC/GCGCGG 2 H Q mis1 ese38Minor allele frequency- G:0.02NA CSA WA EA 367
    rs731446501,2
    C,F--48492546(+) ACCAGC/AGGGAG 2 /R syn11Minor allele frequency- A:0.09WA 118
    rs1511529501,2
    --48492661(+) CGCGGC/TACAGT 2 A V mis10--------
    rs1175455051,2
    C,F--48492722(+) CCGGCC/TGGCCC 2 A syn11Minor allele frequency- T:0.03EA 120
    rs749296441,2
    C--48492769(+) CCAGCA/TGCCAT 2 Q L mis13Minor allele frequency- T:0.47NA EA 242
    rs1390731141,2
    C--48492896(+) GAGGGG/TCCCGG 2 G syn10--------

    HapMap Linkage Disequilibrium report for ZAR1 (48492269 - 48496424 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ZAR1:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv5542n71CNV Loss21882294
    nsv470034CNV Gain18288195
    nsv829925CNV Gain+Loss17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607520    OMIM disorders: --

    2 diseases for ZAR1:    About MalaCards
    melanoma    

    1 disease from the University of Copenhagen DISEASES database for ZAR1:
    Western equine encephalitis

    ZAR1 for disorders           About GeneDecksing


    Export disorders for ZAR1 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)
    About This Section

    PubMed articles for ZAR1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ZAR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Zygote arrest 1 (Zar1) is a novel maternal-effect gene critical for the oocyte-to-embryo transition. (PubMed id 12539046)1, 2, 3 Wu X....Matzuk M.M. (2003)
    2. Zygote arrest 1 (Zar1) is an evolutionarily conserved gene expressed in vertebrate ovaries. (PubMed id 12773403)1, 2, 9 Wu X.... Matzuk M.M. (2003)
    3. Zygote arrest 1 gene in pig, cattle and human: evidence of different transcript variants in male and female germ cells. (PubMed id 16551357)1, 9 Uzbekova S....Mermillod P. (2006)
    4. Identification and analysis of an early diagnostic ma rker for malignant melanoma: ZAR1 intra-genic differential methylation. (PubMed id 20654783)1 Shinojima Y....Nagase H. (2010)
    5. Aberrant hypermethylation of non-promoter zygote arre st 1 (ZAR1) in human brain tumors. (PubMed id 21206179)1 Watanabe T....Nagase H. (2010)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    7. Developmental competence of human in vitro aged oocytes as host cells for nuclear transfer. (PubMed id 16957049)9 Hall V.J....Stojkovic M. (2007)
    8. Distinct sets of developmentally regulated genes that are expressed by human oocytes and human embryonic stem cells. (PubMed id 17126334)9 Zhang P....Kere J. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 326340 HGNC: 20436 AceView: ZAR1 Ensembl:ENSG00000182223 euGenes: HUgn326340
    ECgene: ZAR1 H-InvDB: ZAR1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ZAR1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ZAR1 gene:
    Search GeneIP for patents involving ZAR1

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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