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JAGN1 Gene

protein-coding   GIFtS: 40
GCID: GC03P009932

Jagunal Homolog 1 (Drosophila)

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(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
Jagunal Homolog 1 (Drosophila)1 2
GL0092
Protein Jagunal Homolog 12

External Ids:    HGNC: 269261   Entrez Gene: 845222   Ensembl: ENSG000001711357   UniProtKB: Q8N5M93   

Export aliases for JAGN1 gene to outside databases

Previous GC identifers: GC03P009908 GC03P009909 GC03P009910 GC03P009911 GC03P009912 GC03P009868


(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 JAGN1 Gene:
JAGN1 (jagunal homolog 1 (Drosophila)) is a protein-coding gene.

UniProtKB/Swiss-Prot: JAGN1_HUMAN, Q8N5M9
Function: May be required for endoplasmic reticulum organization (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 at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the JAGN1 gene promoter:
         AP-1   ATF-2   c-Jun   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidJAGN1 promoter sequence
   Search Chromatin IP Primers for JAGN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat JAGN1


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

Entrez Gene cytogenetic band: 3p25.2   Ensembl cytogenetic band:  3p25.3   HGNC cytogenetic band: 3p25.2

JAGN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
JAGN1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P009932:  view genomic region     (about GC identifiers)

Start:
9,932,238 bp from pter      End:
9,936,033 bp from pter
Size:
3,796 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: JAGN1_HUMAN, Q8N5M9 (See protein sequence)
Recommended Name: Protein jagunal homolog 1  
Size: 183 amino acids; 21125 Da
Secondary accessions: Q8NCF6 Q96SW1

Explore the universe of human proteins at neXtProt for JAGN1: NX_Q8N5M9

Explore proteomics data for JAGN1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See JAGN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_115881.3  
    ENSEMBL proteins: 
     ENSP00000306106  

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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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    1 InterPro protein domain:
     IPR009787 Jagunal

    Graphical View of Domain Structure for InterPro Entry Q8N5M9

    ProtoNet protein and cluster: Q8N5M9

    UniProtKB/Swiss-Prot: JAGN1_HUMAN, Q8N5M9
    Similarity: Belongs to the jagunal family


    Find genes that share domains with JAGN1           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: JAGN1_HUMAN, Q8N5M9
    Function: May be required for endoplasmic reticulum organization (By similarity)

    Animal Models:

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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
    JAGN1_HUMAN, Q8N5M9: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with JAGN1           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for JAGN1
    Interactions:

        Search GeneGlobe Interaction Network for JAGN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for JAGN1 (ENSP000003061064) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC35F5ENSP000002456804STRING: ENSP00000245680
    SURF4ENSP000003610574STRING: ENSP00000361057
    ATP9AENSP000003424814STRING: ENSP00000342481
    ATP9BENSP000003045004STRING: ENSP00000304500
    CHPT1ENSP000002292664STRING: ENSP00000229266
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007029endoplasmic reticulum organization IEA--

    Find genes that share ontologies with JAGN1           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 Tocris compounds for JAGN1



    (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 JAGN1 gene: 
    NM_032492.3  

    Unigene Cluster for JAGN1:

    Jagunal homolog 1 (Drosophila)
    Hs.24054  [show with all ESTs]
    Unigene Representative Sequence: AY375475
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000307768(uc003btt.4) ENST00000489724
    miRNA
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    hsa-miR-922 hsa-miR-3662
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    Inhib. RNA
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    Additional mRNA sequence: 

    AF212230.1 AK027508.1 AK074760.1 AK225756.1 AY375475.1 BC008507.1 BC032101.2 

    6 DOTS entries:

    DT.100786472  DT.453960  DT.91754993  DT.100786467  DT.120895885  DT.101971224 

    Selected AceView cDNA sequences (see all 237):

    BQ637060 BU631892 AI202803 BM831418 CR592606 AA234485 BG425004 AL548891 
    AW004793 CD721780 CR615913 AW079295 CR621319 BU736892 AL519891 AI720720 
    BU192865 CA429210 CR601340 BU731528 CR615427 CR626291 CF593557 BU674942 

    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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    JAGN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTGGCAGTT
    JAGN1 Expression
    About this image

    JAGN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    JAGN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.24054
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    In Situ
    Assay Products:
     

     
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    (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 animals.

    Orthologs for JAGN1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Jagn11 , 5 jagunal homolog 1 (Drosophila)1, 5 92.71(n)1
    97.81(a)1
      6 (52.76 cM)5
    677671  NM_026365.31  NP_080641.11 
     1134425695 
    lizard
    (Anolis carolinensis)
    Reptilia JAGN16
    jagunal homolog 1 (Drosophila)
    83(a)
    1 ↔ 1
    2(191340384-191344915)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.166242 Xenopus laevis transcribed sequence with weak similarity to protein refNP_115881.1 (H.sapiens) hypothetical protein GL009 [Homo sapiens] less 74.86(n)    BJ033889.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb07b072 Transcribed sequence with weak similarity to protein refNP_115881.1 (H.sapiens) hypothetical protein GL009 [Homo sapiens] less 76.98(n)    CD599765.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta jagn6
    jagunal
    30(a)
    1 ↔ 1
    3R(1605031-1607030)
    worm
    (Caenorhabditis elegans)
    Secernentea K05C4.26
    Protein K05C4.2 (K05C4.2) mRNA, complete cds
    32(a)
    1 ↔ 1
    I(14720587-14721355) WBGene00010579


    ENSEMBL Gene Tree for JAGN1 (if available)
    TreeFam Gene Tree for JAGN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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 JAGN1 (see all 184)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs592778361,2
    C,F--9930415(+) AATGCA/GGTGGC 1 -- us2k12Minor allele frequency- G:0.07WA 120
    rs1911204191,2
    --9930434(+) GGCTCA/TCTGTA 1 -- us2k10--------
    rs1823809231,2
    --9930484(+) CCTCCC/TGAGTA 1 -- us2k10--------
    rs1855153611,2
    --9930672(+) AAACTC/GTGTCA 1 -- us2k10--------
    rs1469515301,2
    --9930798(+) CCAAGG/TGCTCT 1 -- us2k10--------
    rs1155608651,2
    C,F--9931029(+) TCCCCC/TGACTG 1 -- us2k11Minor allele frequency- T:0.05NA 120
    rs1379551771,2
    --9931030(+) CCCCCA/GACTGG 1 -- us2k10--------
    rs1494549401,2
    --9931128(+) TATACA/GTGCTT 1 -- us2k10--------
    rs1904726221,2
    --9931157(+) TTATTC/TGGATA 1 -- us2k10--------
    rs2003488321,2
    C--9931171(+) TAACT-/TCTTTCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for JAGN1 (9932238 - 9936033 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for JAGN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv834615CNV 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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    (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 JAGN1 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with JAGN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. Identification of VKORC1 interaction partners by split-ubiquitin system and coimmunoprecipitation. (PubMed id 21103663)1 Schaafhausen A....MA1ller C.R. (Thromb. Haemost. 2011)
    4. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    6. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    7. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    8. Jagunal is required for reorganizing the endoplasmic reticulum during Drosophila oogenesis. (PubMed id 17389229)2 Lee S. and Cooley L. (J. Cell Biol. 2007)
    9. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1 Otsuki T....Isogai T. (DNA Res. 2005)
    10. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (Genome Res. 2004)

    (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: 84522 HGNC: 26926 AceView: GL009 Ensembl:ENSG00000171135 euGenes: HUgn84522
    ECgene: JAGN1 H-InvDB: JAGN1

    (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 JAGN1 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 JAGN1 gene:
    Search GeneIP for patents involving JAGN1

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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