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ZAR1 Gene

protein-coding   GIFtS: 42
GCID: GC04P048492

Zygote Arrest 1

  See related diseases
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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Aliases
Zygote Arrest 11 2     Z3CXXC62
Oocyte-Specific Maternal Effect Factor2 3     Zinc Finger, 3CxxC-Type 62
3CxxC-Type 61     Zygote Arrest Protein 12
Zinc Finger1     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 western equine encephalitis, and encephalitis. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NC_018915.2  NT_006238.12  
Regulatory elements:
   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 Chromatin IP Primers for ZAR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, 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., 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: ZAR1_HUMAN, Q86SH2 (See protein sequence)
Recommended Name: Zygote arrest protein 1  
Size: 424 amino acids; 45873 Da

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

Explore proteomics data for ZAR1 at MOPED


See ZAR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_783318.1  
ENSEMBL proteins: 
 ENSP00000329803  

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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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2 InterPro protein domains:
 IPR027377 Znf-3CxxC
 IPR026775 Zar1

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,
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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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

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hsa-miR-106a*
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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
ZAR1_HUMAN, Q86SH2: Cytoplasm (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus3
cytosol2

Gene Ontology (GO): 1 cellular component term:    About this table

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

ZAR1 for ontologies           About GeneDecksing


(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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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ZAR1
Interactions:

    Search GeneGlobe Interaction Network for ZAR1

Gene Ontology (GO): 1 biological process term:    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, 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 Tocris compounds for 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,
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, Primers from OriGene, and/or QIAGEN )
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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)
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hsa-miR-106a*
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Inhib. RNA
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  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™, 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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ZAR1 expression in normal human tissues (normalized intensities)
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
 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
ZAR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

ZAR1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.276457

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

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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)
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This gene was present in the common ancestor of chordates.

Orthologs for ZAR1 gene from Selected species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Zar11 , 5 zygote arrest 11, 5 70.82(n)1
60.39(a)1
  5 (38.44 cM)5
3177551  NM_174877.31  NP_777366.11 
 725771145 
chicken
(Gallus gallus)
Aves ZAR11 zygote arrest 1 70.7(n)
74.74(a)
  100857604  XM_003641208.2  XP_003641256.2 
lizard
(Anolis carolinensis)
Reptilia ZAR16
zygote arrest 1
58(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)
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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), 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 ZAR1 (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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 607520    OMIM disorders: --

3 diseases for ZAR1:    
About MalaCards
western equine encephalitis    encephalitis    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)
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PubMed articles for ZAR1 gene integrated from 10 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. (Nat. Genet. 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. (Biol. Reprod. 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. (amp 2006)
  4. Non-promoter DNA hypermethylation of Zygote Arrest 1 (ZAR1) in neuroblastomas. (PubMed id 23583134)1 Sugito K....Nagase H. (J. Pediatr. Surg. 2013)
  5. Aberrant hypermethylation of non-promoter zygote arrest 1 (ZAR1) in human brain tumors. (PubMed id 21206179)1 Watanabe T....Nagase H. (Neurol. Med. Chir. (Tokyo) 2010)
  6. Identification and analysis of an early diagnostic marker for malignant melanoma: ZAR1 intra-genic differential methylation. (PubMed id 20654783)1 Shinojima Y....Nagase H. (J. Dermatol. Sci. 2010)
  7. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  8. Developmental competence of human in vitro aged oocytes as host cells for nuclear transfer. (PubMed id 16957049)9 Hall V.J....Stojkovic M. (Hum. Reprod. 2007)
  9. 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. (Fertil. Steril. 2007)

(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: 326340 HGNC: 20436 AceView: ZAR1 Ensembl:ENSG00000182223 euGenes: HUgn326340
ECgene: ZAR1 H-InvDB: ZAR1

(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 ZAR1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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