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

Gene ID: 80233, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81539891..81553133, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82457203..82471696, complement)
105.20220307 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. Mechanism of Ubiquitination and Deubiquitination in the Fanconi Anemia Pathway. van Twest S, et al. Mol Cell, 2017 Jan 19. PMID 27986371

See all (39) 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)

Genotypes

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 
part_of 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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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_2023_10

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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