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

YJEFN3 Gene

protein-coding   GIFtS: 36
GCID: GC19P019639

YjeF N-Terminal Domain Containing 3

  Search for YJEFN3
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
YjeF N-Terminal Domain Containing 31 2     yjeF_N32
hYjeF_N32 3     YjeF N-Terminal Domain-Containing Protein 32
Apolipoprotein A1 Binding Protein2     YjeF_N33
hYjeF_N3-19p13.112     

External Ids:    HGNC: 247851   Entrez Gene: 3748872   Ensembl: ENSG000002500677   UniProtKB: A6XGL03   

Export aliases for YJEFN3 gene to outside databases

Previous GC identifers: GC19P019501 GC19P019627 GC19P019201


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

GeneCards Summary for YJEFN3 Gene: 
YJEFN3 (YjeF N-terminal domain containing 3) is a protein-coding gene. An important paralog of this gene is APOA1BP.

UniProtKB/Swiss-Prot: YJEN3_HUMAN, A6XGL0
Function: May play a role in spermiogenesis and oogenesis




(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_000019.9  NT_011295.11  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the YJEFN3 gene promoter:
         ER-alpha   CUTL1   PPAR-gamma1   E2F   CP2   E2F-1   STAT3   PPAR-gamma2   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidYJEFN3 promoter sequence
   Search SABiosciences Chromatin IP Primers for YJEFN3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat YJEFN3


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

Entrez Gene cytogenetic band: 19p13.11   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.11

YJEFN3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
YJEFN3 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P019639:  view genomic region     (about GC identifiers)

Start:
19,639,670 bp from pter      End:
19,648,393 bp from pter
Size:
8,724 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: YJEN3_HUMAN, A6XGL0 (See protein sequence)
Recommended Name: YjeF N-terminal domain-containing protein 3  
Size: 299 amino acids; 32585 Da
Sequence caution: Sequence=BC020948; Type=Frameshift; Positions=200;
Secondary accessions: A6XGK9 Q4G1C0
Alternative splicing: 2 isoforms:  A6XGL0-1   A6XGL0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for YJEFN3: NX_A6XGL0

Explore proteomics data for YJEFN3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A6XGL0

  • YJEFN3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    YJEFN3 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001177257.1  NP_940939.2  

    ENSEMBL proteins: 
     ENSP00000475148   ENSP00000426964   ENSP00000398520  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR004443 YjeF_N_dom

    Graphical View of Domain Structure for InterPro Entry A6XGL0

    ProtoNet protein and cluster: A6XGL0

    UniProtKB/Swiss-Prot: YJEN3_HUMAN, A6XGL0
    Similarity: Contains 1 YjeF N-terminal domain


    YJEFN3 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: YJEN3_HUMAN, A6XGL0
    Function: May play a role in spermiogenesis and oogenesis

    Animal Models:

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    (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 YJEFN3

    (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 YJEFN3 (YJEN3)

    Search CenterWatch for drugs/clinical trials and news about YJEFN3 / YJEN3

    (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,
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    About This Section

    REFSEQ mRNAs for YJEFN3 gene (2 alternative transcripts): 
    NM_001190328.1  NM_198537.3  

    Unigene Cluster for YJEFN3:

    YjeF N-terminal domain containing 3
    Hs.729508  [show with all ESTs]
    Unigene Representative Sequence: AK057449
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000458210(uc021uqv.1 uc002nmu.2) ENST00000514277 ENST00000436027(uc010ecf.2)

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    Additional mRNA sequence: 

    AK057449.1 AK094976.1 BC020948.1 BC093948.1 BC112285.1 DQ778079.1 DQ778080.1 

    4 DOTS entries:

    DT.75157373  DT.442679  DT.100653454  DT.95353856 

    24/469 AceView cDNA sequences (see all 469):

    BE378562 BE389629 BM790018 CD678943 BM665656 F30223 BM797483 AA366998 
    F27361 BM699888 BQ877030 CB128799 BQ228787 AI357370 BQ026764 CF130548 
    F30399 CB159147 BU956921 BC000589 CD108787 BU164243 BM661998 BM709885 

    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

    YJEFN3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTAGTGCCGT
    YJEFN3 Expression
    About this image


    See YJEFN3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for YJEFN3

    SOURCE GeneReport for Unigene cluster: Hs.729508

    UniProtKB/Swiss-Prot: YJEN3_HUMAN, A6XGL0
    Tissue specificity: Expressed in theca cells in ovary and in Leydig cells in testis (at protein level). Also
    expressed in brain and mammary gland

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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for YJEFN3 gene from 7/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Yjefn31 , 5 YjeF N-terminal domain containing 31, 5 80.64(n)1
    82.99(a)1
      8 (34.02 cM)5
    2343651  XM_978251.41  XP_983345.11 
     698877885 
    chicken
    (Gallus gallus)
    Aves LOC1008578311 yjeF N-terminal domain-containing protein 3-like 74.74(n)
    73.71(a)
      100857831  XM_003643399.1  XP_003643447.1 
    lizard
    (Anolis carolinensis)
    Reptilia YJEFN36
    Uncharacterized protein
    66(a)
    1 ↔ 1
    GL344325.1(24535-28585)
    zebrafish
    (Danio rerio)
    Actinopterygii yjefn31 YjeF N-terminal domain containing 3 61.11(n)
    60.16(a)
      557840  NM_001044843.1  NP_001038308.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG29746
    --
    39(a)
    1 → many
    X(9978947-9980204)
    worm
    (Caenorhabditis elegans)
    Secernentea Y18D10A.36
    NAD(P)H-hydrate epimerase
    24(a)
    1 → many
    I(12810169-12815641)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YNL200C6
    NADHX epimerase; catalyzes isomerization of (R)- a...
    35(a)
    1 → many
    XIV(263713-264453)


    ENSEMBL Gene Tree for YJEFN3 (if available)
    TreeFam Gene Tree for YJEFN3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for YJEFN3 gene
    APOA1BP2  
    2 SIMAP similar genes for YJEFN3 using alignment to 3 protein entries:     YJEN3_HUMAN (see all proteins):
    NDUFA13    APOA1BP

    YJEFN3 for paralogs           About GeneDecksing



    (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

    10/165 SNPs in YJEFN3 are shown (see all 165)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1847207021,2
    C--19639553(+) TGGCAC/GGAAAG 2 -- us2k10--------
    rs1171368571,2
    C--19639828(+) GGAGAC/TGGGCA 2 -- int11Minor allele frequency- T:0.01NA 120
    rs614188341,2
    C--19639903(+) GGGTCC/TGGGGA 2 -- int12Minor allele frequency- T:0.04WA 120
    rs104267321,2
    C,F,H--19640054(+) AGCTGC/TGTTGC 2 -- int18Minor allele frequency- T:0.03NS NA WA 914
    rs1461935381,2
    C--19640134(+) CCGAAC/GCCCAA 2 -- int10--------
    rs2009802081,2
    C--19640201(+) TTGCCA/GACATG 3 N D mis1 int10--------
    rs2013921311,2
    --19640270(+) CCTGGA/GGAAGG 3 R G mis1 int10--------
    rs2018048371,2
    C--19640271(+) CTGGGA/GAAGGC 3 E G mis1 int10--------
    rs1481618971,2
    C--19640309(+) CAGGGA/CCTGTT 3 T P mis1 int10--------
    rs2012104661,2
    C--19640319(+) TTGCCA/GGAGGT 3 Q R mis1 int10--------

    HapMap Linkage Disequilibrium report for YJEFN3 (19639670 - 19648393 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for YJEFN3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv509723CNV Insertion20534489
    dgv3789n71CNV Loss21882294
    nsv911305CNV Loss21882294

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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
      --

    (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 YJEFN3 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with YJEFN3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ApoA-I-binding protein (AI-BP) and its homologues hYjeF_N2 and hYjeF_N3 comprise the YjeF_N domain protein family in humans with a role in spermiogenesis and oogenesis. (PubMed id 17533573)1, 2, 3 Rudolph C.... Schmitz G. (2007)
    2. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    3. 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. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    5. 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)
    6. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    (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: 374887 HGNC: 24785 AceView: GRIM19andFLJ44968 Ensembl:ENSG00000250067 euGenes: HUgn374887
    ECgene: YJEFN3 H-InvDB: YJEFN3

    (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 YJEFN3 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 YJEFN3 gene:
    Search GeneIP for patents involving YJEFN3

    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
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 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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