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    FEM1C fem-1 homolog C [ Homo sapiens (human) ]

    Gene ID: 56929, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FEM1Cprovided by HGNC
    Official Full Name
    fem-1 homolog Cprovided by HGNC
    Primary source
    HGNC:HGNC:16933
    See related
    Ensembl:ENSG00000145780 MIM:608767; AllianceGenome:HGNC:16933
    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
    FEM1A; EUROIMAGE686608; EUROIMAGE783647
    Summary
    Enables ubiquitin-like ligase-substrate adaptor activity. Involved in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway. Located in cytosol and nucleoplasm. Part of Cul2-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 24.9), testis (RPKM 9.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FEM1C in Genome Data Viewer
    Location:
    5q22.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (115520908..115544775, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (116033707..116057577, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (114856605..114880472, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene COX assembly mitochondrial protein homolog Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22932 Neighboring gene chaperonin containing TCP1 subunit 5 pseudogene 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:114880021-114880787 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22934 Neighboring gene TMED7-TICAM2 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16252 Neighboring gene TIR domain containing adaptor molecule 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:114937526-114938048 Neighboring gene TICAM2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22936 Neighboring gene transmembrane p24 trafficking protein 7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Tolerance Biomarkers in Liver Transplantation: Independent External Validation of the Predictive Strength of SENP6 and FEM1C Gene Expression. Pérez-Sanz F, et al. Transplantation, 2019 Sep. PMID 30720688
    2. C-Terminal End-Directed Protein Elimination by CRL2 Ubiquitin Ligases. Lin HC, et al. Mol Cell, 2018 May 17. PMID 29775578, Free PMC Article
    3. The Fem1c genes: conserved members of the Fem1 gene family in vertebrates. Ventura-Holman T, et al. Gene, 2003 Sep 18. PMID 14527725
    4. FEM1A and FEM1B: novel candidate genes for polycystic ovary syndrome. Goodarzi MO, et al. Hum Reprod, 2008 Dec. PMID 18757445, Free PMC Article
    5. Identification of human FEM1A, the ortholog of a C. elegans sex-differentiation gene. Krakow D, et al. Gene, 2001 Nov 28. PMID 11733146

    See all (25) 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. SENP6 and FEM1C gene expression in liver transplantation predicts transplantation tolerance.
      Title: Tolerance Biomarkers in Liver Transplantation: Independent External Validation of the Predictive Strength of SENP6 and FEM1C Gene Expression.
    4. FEM1 proteins are ancient regulators of Stem-Loop Binding Protein.
      Title: FEM1 proteins are ancient regulators of SLBP degradation.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: FEM1A and FEM1B: novel candidate genes for polycystic ovary syndrome.
    6. The identification of a human homolog of this conserved gene suggests a potential role for this sex-determining molecule in humans.
      Title: Identification of human FEM1A, the ortholog of a C. elegans sex-differentiation gene.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1785

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin-like ligase-substrate adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin-like ligase-substrate adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    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 IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    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 C
    Names
    FEM1-gamma

    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_020177.3 → NP_064562.1  protein fem-1 homolog C

      See identical proteins and their annotated locations for NP_064562.1

      Status: VALIDATED

      Source sequence(s)
      AB058688, AC008628, BC028369, W07603
      Consensus CDS
      CCDS4118.1
      UniProtKB/Swiss-Prot
      B2RE47, Q8N3V8, Q96JP0, Q9H704, Q9NPL6, Q9NPL9
      Related
      ENSP00000274457.3, ENST00000274457.5
      Conserved Domains (4) summary
      PHA02876
      Location:164 → 568
      PHA02876; ankyrin repeat protein; Provisional
      COG0666
      Location:462 → 599
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:118 → 146
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:87 → 178
      Ank_2; Ankyrin repeats (3 copies)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      115520908..115544775 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      116033707..116057577 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96JP0.1 GenPept UniProtKB/Swiss-Prot:Q96JP0

    Gene LinkOut

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

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