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

Gene ID: 80233, updated on 8-May-2016
Official Symbol
FAAP100provided by HGNC
Official Full Name
Fanconi anemia core complex associated protein 100provided by HGNC
Primary source
HGNC:HGNC:26171
See related
Ensembl:ENSG00000185504 HPRD:07982; MIM:611301; Vega:OTTHUMG00000167764
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]
Orthologs
Location:
17q25.3
Exon count:
10
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (81539885..81552403, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79506911..79519429, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371928 Neighboring gene actin gamma 1 Neighboring gene fascin actin-bundling protein 2, retinal Neighboring gene NPL4 homolog, ubiquitin recognition factor Neighboring gene tetraspanin 10

  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • FA core complex, organism-specific biosystem (from KEGG)
    FA core complex, organism-specific biosystemStructural complex; Genetic information processing; Repair system
  • FA core complex, conserved biosystem (from KEGG)
    FA core complex, conserved biosystemStructural complex; Genetic information processing; Repair system
  • Fanconi Anemia Pathway, organism-specific biosystem (from REACTOME)
    Fanconi Anemia Pathway, organism-specific biosystemFanconi anemia (FA) is a genetic disease of genome instability characterized by congenital skeletal defects, aplastic anemia, susceptibility to leukemias, and cellular sensitivity to DNA damaging age...
  • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
    Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Fanconi anemia pathway, conserved biosystem (from KEGG)
    Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ22175, FLJ30151

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
interstrand cross-link repair TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Fanconi anaemia nuclear complex IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
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-associated protein, 100kDa
fanconi anemia-associated protein of 100 kDa

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_025161.5NP_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, CN366430, DA103390, DQ989324
    Consensus CDS
    CCDS32765.2
    UniProtKB/Swiss-Prot
    Q0VG06
    UniProtKB/TrEMBL
    A4ZI32
    Related
    ENSP00000333283, OTTHUMP00000236787, ENST00000327787, OTTHUMT00000396170
    Conserved Domains (1) summary
    pfam15146
    Location:448881
    FANCAA; Fanconi anemia-associated

RNA

  1. NR_033338.1 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, CN366430, DA103390
    Related
    ENST00000443656, OTTHUMT00000396169

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

    Range
    81539885..81552403 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722111.2XP_006722174.1  

    Conserved Domains (1) summary
    pfam15146
    Location:448743
    FANCAA; Fanconi anemia-associated
  2. XM_006722112.2XP_006722175.1  

    UniProtKB/Swiss-Prot
    Q0VG06
    Conserved Domains (1) summary
    pfam15146
    Location:297730
    FANCAA; Fanconi anemia-associated

RNA

  1. XR_429925.2 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    79593115..79605638 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)