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

FEM1A Gene

protein-coding   GIFtS: 52
GCID: GC19P004791

Fem-1 Homolog A (C. Elegans)

  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)
About This Section

Aliases
Fem-1 Homolog A (C. Elegans)1 2
Prostaglandin E Receptor 4-Associated Protein2 3
EPRAP2 3
FEM1-alpha2 3
Protein Fem-1 Homolog A2
FEM1a3

External Ids:    HGNC: 169341   Entrez Gene: 555272   Ensembl: ENSG000001419657   OMIM: 6135385   UniProtKB: Q9BSK43   

Export aliases for FEM1A gene to outside databases

Previous GC identifers: GC19P004883 GC19P004732 GC19P004742 GC19P004553


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

GeneCards Summary for FEM1A Gene: 
FEM1A (fem-1 homolog a (C. elegans)) is a protein-coding gene. Diseases associated with FEM1A include polycystic ovary syndrome, and rhabdomyosarcoma. GO annotations related to this gene include ubiquitin-protein ligase activity and EP4 subtype prostaglandin E2 receptor binding. An important paralog of this gene is TANC2.

UniProtKB/Swiss-Prot: FEM1A_HUMAN, Q9BSK4
Function: Probable component of an E3 ubiquitin-protein ligase complex, in which it may act as a substrate
recognition subunit (By similarity). May participate in antiinflammatory signaling via its interaction with
PTGER4




(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  NC_018930.2  NT_011255.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FEM1A gene promoter:
         Pax-5   SREBP-1c   Lmo2   AP-4   SREBP-1b   YY1   E2F-1   SREBP-1a   E2F   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): FEM1A promoter sequence
   Search SABiosciences Chromatin IP Primers for FEM1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FEM1A


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

FEM1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FEM1A gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P004791:  view genomic region     (about GC identifiers)

Start:
4,791,728 bp from pter      End:
4,795,571 bp from pter
Size:
3,844 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: FEM1A_HUMAN, Q9BSK4 (See protein sequence)
Recommended Name: Protein fem-1 homolog A  
Size: 669 amino acids; 73639 Da
Subunit: Component of some E3 ubiquitin-protein ligase complex (By similarity). Interacts with PTGER4
Subcellular location: Cytoplasm (Probable)
Secondary accessions: B2RDI3 Q711P8 Q9NPN7 Q9NPW8

Explore the universe of human proteins at neXtProt for FEM1A: NX_Q9BSK4

Explore proteomics data for FEM1A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BSK4

  • FEM1A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FEM1A Protein Expression
    REFSEQ proteins: NP_061178.1  
    ENSEMBL proteins: 
     ENSP00000269856  

    Human Recombinant Protein Products for FEM1A: 
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    Cloud-Clone Corp. Proteins for FEM1A 

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

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

    FEM1A 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
    HGNC Gene Families: 
    ANKRD: Ankyrin repeat domain containing

    3 InterPro protein domains:
     IPR011990 TPR-like_helical
     IPR002110 Ankyrin_rpt
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q9BSK4

    ProtoNet protein and cluster: Q9BSK4

    1 Blocks protein domain: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: FEM1A_HUMAN, Q9BSK4
    Similarity: Belongs to the fem-1 family
    Similarity: Contains 9 ANK repeats
    Similarity: Contains 2 TPR repeats


    FEM1A 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: FEM1A_HUMAN, Q9BSK4
    Function: Probable component of an E3 ubiquitin-protein ligase complex, in which it may act as a substrate
    recognition subunit (By similarity). May participate in antiinflammatory signaling via its interaction with
    PTGER4
    Induction: Frequently down-regulated in rhabdomyosarcoma

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity ISS--
    GO:0005515protein binding ----
    GO:0031867EP4 subtype prostaglandin E2 receptor binding IPI16424369
         
    FEM1A for ontologies           About GeneDecksing


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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



    UniProtKB/Swiss-Prot: FEM1A_HUMAN, Q9BSK4
    Pathway: Protein modification; protein ubiquitination

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FEM1A

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

    5 Interacting proteins for FEM1A (Q9BSK43 ENSP000002698564) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPM1FP495933, ENSP000002632124I2D: score=1 STRING: ENSP00000263212
    TCEAL1Q151703, ENSP000003617074I2D: score=2 STRING: ENSP00000361707
    UBCENSP000003448184STRING: ENSP00000344818
    KIAA0319ENSP000003674594STRING: ENSP00000367459
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0050728negative regulation of inflammatory response IDA16424369
    GO:0051438regulation of ubiquitin-protein ligase activity ISS--

    FEM1A 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 FEM1A

    Search CenterWatch for drugs/clinical trials and news about FEM1A

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 FEM1A gene: 
    NM_018708.2  

    Unigene Cluster for FEM1A:

    Fem-1 homolog a (C. elegans)
    Hs.515082  [show with all ESTs]
    Unigene Representative Sequence: NM_018708
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000269856(uc002mbf.3)
    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate FEM1A:
    hsa-miR-135b hsa-miR-135a
    SwitchGear 3'UTR luciferase reporter plasmidFEM1A 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FEM1A
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    Additional mRNA sequence: 

    AJ311359.1 AK074232.1 AK126532.1 AK315554.1 AL359589.1 AL365408.1 AY356352.1 BC004988.1 
    CR749732.1 

    7 DOTS entries:

    DT.444040  DT.101981831  DT.75159514  DT.95090716  DT.95303560  DT.95090712  DT.95090715 

    24/31 AceView cDNA sequences (see all 31):

    AA932849 BE855928 AI219669 BF447595 AI698736 AA731842 BM553222 AK126532 
    BQ340183 AI951558 CA311661 AA883966 AA829913 AW175962 BM916748 AW804491 
    AI245065 AW970630 BM557537 AW754454 AI220002 BF816198 BF815454 AJ708252 

    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

    FEM1A expression in normal human tissues (normalized intensities)      FEM1A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCGAGTCTCC
    FEM1A Expression
    About this image


    FEM1A 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
     
     Skeletal Muscle (Muscoskeletal System)
             vastus lateralis   
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain

    See FEM1A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FEM1A

    SOURCE GeneReport for Unigene cluster: Hs.515082

    UniProtKB/Swiss-Prot: FEM1A_HUMAN, Q9BSK4
    Tissue specificity: Present in macrophages derived from peripheral blood monocytes. Also present in atheromata (at
    protein level)

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FEM1A gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fem1a1 , 5 feminization 1 homolog a (C. elegans)1, 5 83.79(n)1
    91.44(a)1
      17 (29.24 cM)5
    141541  NM_010192.41  NP_034322.31 
     562567935 
    chicken
    (Gallus gallus)
    Aves FEM1A1 fem-1 homolog a (C. elegans) 74.59(n)
    82.11(a)
      420157  XM_418271.3  XP_418271.3 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi20c042 wufi20c04 77.53(n)   327613  BC060522.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG69663   -- 49(a)
    (best of 2)
      88E1   --
    worm
    (Caenorhabditis elegans)
    Secernentea fem-13 Expression: all somatic, embryo, L1
    larva, L2 more
    39(a)   IV(5533595-5538047)   --


    ENSEMBL Gene Tree for FEM1A (if available)
    TreeFam Gene Tree for FEM1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FEM1A gene
    TANC22  ANKS32  ANKRD172  ANKRD292  ANKHD12  FANK12  KIDINS2202  RNASEL2  
    ANKHD1-EIF4EBP32  FEM1B2  TANC12  ANKS62  FEM1C2  
    2 SIMAP similar genes for FEM1A using alignment to 1 protein entry:     FEM1A_HUMAN:
    FEM1C    FEM1B

    FEM1A for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for FEM1A
    PGOHUM00000248499 PGOHUM00000234877 PGOHUM00000239133 PGOHUM00000243331


    (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

    10/143 SNPs in FEM1A are shown (see all 143)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0398094
    ----see VAR_0398092 H Y mis40--------
    rs1504406361,2
    --4789755(+) GCGCGA/CTCTCG 1 -- us2k10--------
    rs116660541,2
    C,F,H--4789861(+) aatttC/Tttgta 1 -- us2k14Minor allele frequency- T:0.50NA 8
    rs116688311,2
    C,F,H--4789873(+) ttttaA/Gtagag 1 -- us2k15Minor allele frequency- G:0.40NA 10
    rs1432150841,2
    C--4789934(+) ATCCAC/GCCATC 1 -- us2k10--------
    rs72572811,2
    C,F,A--4789937(+) cacccA/Gtctcg 1 -- us2k17Minor allele frequency- G:0.46NA WA CSA 13
    rs1418209261,2
    C--4789990(+) CGGCCA/GGCATG 1 -- us2k10--------
    rs1462659901,2
    C--4790018(+) GAAGAC/TGCTGT 1 -- us2k10--------
    rs1932614361,2
    --4790131(+) GTCACC/GCAGGC 1 -- us2k10--------
    rs48076421,2
    C--4790420(+) TTGTAT/CATATA 1 -- us2k11Minor allele frequency- C:0.01NA 120

    HapMap Linkage Disequilibrium report for FEM1A (4791728 - 4795571 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for FEM1A:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv910847CNV Loss21882294
    nsv910859CNV Loss21882294


    Human Gene Mutation Database (HGMD): FEM1A
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for FEM1A

    (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: 613538    OMIM disorders: --

    3 diseases for FEM1A:    About MalaCards
    polycystic ovary syndrome    rhabdomyosarcoma    atherosclerosis


    FEM1A for disorders           About GeneDecksing

    Genetic Association Database (GAD): FEM1A
    Human Genome Epidemiology (HuGE) Navigator: FEM1A (7 documents)

    Export disorders for FEM1A 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 FEM1A gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with FEM1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. FEM1A is a candidate gene for polycystic ovary syndrome. (PubMed id 16390781)1, 2, 4 Maher J.F.... Cowan B.D. (2005)
    2. A novel prostaglandin E receptor 4-associated protein participates in antiinflammatory signaling. (PubMed id 16424369)1, 2, 9 Takayama K.... Libby P. (2006)
    3. The Fem1a gene is downregulated in Rhabdomyosarcoma. (PubMed id 16254458)1, 2, 9 Ventura-Holman T.... Maher J.F. (2005)
    4. Family-based analysis of candidate genes for polycyst ic ovary syndrome. (PubMed id 20200332)1, 4 Ewens K.G....Spielman R.S. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. Integrative predictive model of coronary artery calci fication in atherosclerosis. (PubMed id 19948975)1, 4 McGeachie M....Ramoni M.F. (2009)
    7. FEM1A and FEM1B: novel candidate genes for polycystic ovary syndrome. (PubMed id 18757445)1, 4 Goodarzi M.O....Azziz R. (2008)
    8. Human chromosome 19 and related regions in mouse: con servative and lineage-specific evolution. (PubMed id 11441184)1, 3 Dehal P....Stubbs L. (2001)
    9. [Polymorphisms of FEM1A gene in patients with polycyst ic ovary syndrome]. (PubMed id 22678803)1 Lin Y. and Sun Y. (2012)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55527 HGNC: 16934 AceView: FEM1A.1 Ensembl:ENSG00000141965 euGenes: HUgn55527
    ECgene: FEM1A H-InvDB: FEM1A

    (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 FEM1A 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 FEM1A gene:
    Search GeneIP for patents involving FEM1A

    GeneCards and IP:
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