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    FEM1A fem-1 homolog A [ Homo sapiens (human) ]

    Gene ID: 55527, updated on 17-Jun-2024

    Summary

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    Official Symbol
    FEM1Aprovided by HGNC
    Official Full Name
    fem-1 homolog Aprovided by HGNC
    Primary source
    HGNC:HGNC:16934
    See related
    Ensembl:ENSG00000141965 MIM:613538; AllianceGenome:HGNC:16934
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EPRAP
    Summary
    Enables EP4 subtype prostaglandin E2 receptor binding activity and ubiquitin ligase-substrate adaptor activity. Involved in negative regulation of inflammatory response and ubiquitin-dependent protein catabolic process via the C-end degron rule pathway. Part of Cul2-RING ubiquitin ligase complex. Is active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
    Orthologs
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    Genomic context

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    See FEM1A in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (4791734..4801273)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (4777196..4786749)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (4791746..4801285)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene MIR7-3 host gene Neighboring gene microRNA 7-3 Neighboring gene MPRA-validated peak3287 silencer Neighboring gene uncharacterized LOC124904620 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4791399-4792056 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4792057-4792713 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4792714-4793370 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:4804346-4804507 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:4812531-4813730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13783 Neighboring gene TIR domain containing adaptor molecule 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9906 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13784 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13785 Neighboring gene perilipin 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4866939-4867439 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9909

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. [Polymorphisms of FEM1A gene in patients with polycystic ovary syndrome]. Lin Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2012 Jun. PMID 22678803
    2. FEM1A is a candidate gene for polycystic ovary syndrome. Maher JF, et al. Gynecol Endocrinol, 2005 Dec. PMID 16390781
    3. Fem1a is a mitochondrial protein up-regulated upon ischemia-reperfusion injury. Cambier L, et al. FEBS Lett, 2009 May 19. PMID 19406122
    4. The Fem1a gene is downregulated in Rhabdomyosarcoma. Ventura-Holman T, et al. Tumour Biol, 2005 Nov-Dec. PMID 16254458
    5. FEM1A and FEM1B: novel candidate genes for polycystic ovary syndrome. Goodarzi MO, et al. Hum Reprod, 2008 Dec. PMID 18757445, Free PMC Article

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular basis for ubiquitin ligase CRL2(FEM1C)-mediated recognition of C-degron.
      Title: Molecular basis for ubiquitin ligase CRL2(FEM1C)-mediated recognition of C-degron.
    2. Molecular basis for arginine C-terminal degron recognition by Cul2(FEM1) E3 ligase.
      Title: Molecular basis for arginine C-terminal degron recognition by Cul2(FEM1) E3 ligase.
    3. FEM1 proteins are ancient regulators of Stem-Loop Binding Protein.
      Title: FEM1 proteins are ancient regulators of SLBP degradation.
    4. Particular genotypes of the rs12460989 and rs8111933 loci of FEM1A gene are associated with PCOS in Chinese Han.
      Title: [Polymorphisms of FEM1A gene in patients with polycystic ovary syndrome].
    5. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    6. Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
      Title: Integrative predictive model of coronary artery calcification in atherosclerosis.
    7. This study presents evidence suggesting a role for FEM1A and FEM1B in the pathogenesis of polycystic ovary syndrome.
      Title: FEM1A and FEM1B: novel candidate genes for polycystic ovary syndrome.
    8. PGE(2)-EP4 signaling augments NF-kappaB1 p105 protein stability through EPRAP after proinflammatory stimulation, limiting macrophage activation.
      Title: Prostaglandin E receptor type 4-associated protein interacts directly with NF-kappaB1 and attenuates macrophage activation.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Family-based analysis of candidate genes for polycystic ovary syndrome.
    10. Fem1a downregulation may be involved in, and/or a marker of, an early cell fate defect fundamental to rhabdomyosarcoma pathogenesis
      Title: The Fem1a gene is downregulated in Rhabdomyosarcoma.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp762M136

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables EP4 subtype prostaglandin E2 receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin-like ligase-substrate adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of inflammatory response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of ubiquitin-protein transferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Cul2-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein fem-1 homolog A
    Names
    FEM1-alpha
    prostaglandin E receptor 4-associated protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_018708.3 → NP_061178.1  protein fem-1 homolog A

      See identical proteins and their annotated locations for NP_061178.1

      Status: VALIDATED

      Source sequence(s)
      AC005523
      Consensus CDS
      CCDS12135.1
      UniProtKB/Swiss-Prot
      B2RDI3, Q711P8, Q9BSK4, Q9NPN7, Q9NPW8
      Related
      ENSP00000269856.3, ENST00000269856.5
      Conserved Domains (6) summary
      smart00248
      Location:43 → 70
      ANK; ankyrin repeats
      cd00204
      Location:82 → 203
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:87 → 179
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:183 → 235
      Ank_4; Ankyrin repeats (many copies)
      pfam13857
      Location:567 → 620
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:82 → 113
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      4791734..4801273
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      4777196..4786749
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BSK4.1 GenPept UniProtKB/Swiss-Prot:Q9BSK4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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