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    FAAP100 FA core complex associated protein 100 [ Homo sapiens (human) ]

    Gene ID: 80233, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FAAP100provided by HGNC
    Official Full Name
    FA core complex associated protein 100provided by HGNC
    Primary source
    HGNC:HGNC:26171
    See related
    Ensembl:ENSG00000185504 MIM:611301; AllianceGenome:HGNC:26171
    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
    C17orf70
    Summary
    FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 [PubMed 17396147]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in spleen (RPKM 8.4), prostate (RPKM 5.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAAP100 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81539891..81553133, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82457203..82471696, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79506917..79519379, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12964 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9130 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79482073-79482696 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79482697-79483322 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12967 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79483947-79484572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79484573-79485196 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9133 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12970 Neighboring gene actin gamma 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79495325-79495851 Neighboring gene fascin actin-bundling protein 2, retinal Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79495852-79496377 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79504525-79505496 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79507853-79508353 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79516844-79517639 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9135 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9136 Neighboring gene uncharacterized LOC124904085 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9137 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12971 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9138 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9139 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79520435-79521010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79525737-79526238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79526239-79526738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12972 Neighboring gene NPL4 homolog, ubiquitin recognition factor Neighboring gene ReSE screen-validated silencer GRCh37_chr17:79537592-79537800 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12974 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79585853-79586396 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:79586397-79586940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9140 Neighboring gene tetraspanin 10

    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. FANCM of the Fanconi anemia core complex is required for both monoubiquitination and DNA repair. Xue Y, et al. Hum Mol Genet, 2008 Jun 1. PMID 18285517, Free PMC Article
    2. A novel interplay between the Fanconi anemia core complex and ATR-ATRIP kinase during DNA cross-link repair. Tomida J, et al. Nucleic Acids Res, 2013 Aug. PMID 23723247, Free PMC Article
    3. Modularized functions of the Fanconi anemia core complex. Huang Y, et al. Cell Rep, 2014 Jun 26. PMID 24910428, Free PMC Article
    4. FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway. Ling C, et al. EMBO J, 2007 Apr 18. PMID 17396147, Free PMC Article
    5. A novel ubiquitin ligase is deficient in Fanconi anemia. Meetei AR, et al. Nat Genet, 2003 Oct. PMID 12973351

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FAAP100 as a new critical component of the FA-BRCA DNA damage response network.
      Title: FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway.
    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22175, FLJ30151

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in interstrand cross-link repair NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Fanconi anaemia nuclear complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in chromatin 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
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    Fanconi anemia core complex-associated protein 100
    Names
    Fanconi anemia associated protein 100 kDa subunit
    Fanconi anemia core complex 100 kDa subunit
    Fanconi anemia core complex associated protein 100
    Fanconi anemia-associated protein, 100kDa
    fanconi anemia-associated protein of 100 kDa

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_025161.6 → NP_079437.5  Fanconi anemia core complex-associated protein 100 isoform b

      See identical proteins and their annotated locations for NP_079437.5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents the shorter transcript and encodes the functional protein.
      Source sequence(s)
      AC137896, AL834374, DA103390, DQ989324
      Consensus CDS
      CCDS32765.2
      UniProtKB/Swiss-Prot
      A6NNM1, Q0VG06, Q8N3F7, Q9BV13, Q9H6K7, Q9H7E8
      UniProtKB/TrEMBL
      A4ZI32
      Related
      ENSP00000333283.8, ENST00000327787.13
      Conserved Domains (1) summary
      pfam15146
      Location:449 → 881
      FANCAA; Fanconi anemia-associated

    RNA

    1. NR_033338.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) uses an alternate splice site, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC137896, AL834374, BC008883, DA103390
      Related
      ENST00000443656.6

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      81539891..81553133 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436848.1 → XP_047292804.1  Fanconi anemia core complex-associated protein 100 isoform X3

    2. XM_006722111.3 → XP_006722174.1  Fanconi anemia core complex-associated protein 100 isoform X1

      UniProtKB/TrEMBL
      A4ZI32
      Conserved Domains (1) summary
      pfam15146
      Location:449 → 743
      FANCAA; Fanconi anemia-associated

    3. XM_047436847.1 → XP_047292803.1  Fanconi anemia core complex-associated protein 100 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      82457203..82471696 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317406.1 → XP_054173381.1  Fanconi anemia core complex-associated protein 100 isoform X3

    2. XM_054317407.1 → XP_054173382.1  Fanconi anemia core complex-associated protein 100 isoform X4

    3. XM_054317404.1 → XP_054173379.1  Fanconi anemia core complex-associated protein 100 isoform X1

    4. XM_054317405.1 → XP_054173380.1  Fanconi anemia core complex-associated protein 100 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q0VG06.3 GenPept UniProtKB/Swiss-Prot:Q0VG06

    Gene LinkOut

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