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Aliases for FAAP20 Gene

Aliases for FAAP20 Gene

  • Fanconi Anemia Core Complex Associated Protein 20 2 3 5
  • Fanconi Anemia-Associated Protein Of 20 KDa 3 4
  • FANCA-Associated Protein Of 20 KDa 3 4
  • C1orf86 3 4
  • Chromosome 1 Open Reading Frame 86 2
  • FP7162 3

External Ids for FAAP20 Gene

Previous HGNC Symbols for FAAP20 Gene

  • C1orf86

Summaries for FAAP20 Gene

GeneCards Summary for FAAP20 Gene

FAAP20 (Fanconi Anemia Core Complex Associated Protein 20) is a Protein Coding gene. Diseases associated with FAAP20 include fanconi anemia, complementation group a. Among its related pathways are DNA Double-Strand Break Repair and Fanconi anemia pathway.

UniProtKB/Swiss-Prot for FAAP20 Gene

  • Component of the Fanconi anemia (FA) complex required to recruit the FA complex to DNA interstrand cross-links (ICLs) and promote ICLs repair. Following DNA damage recognizes and binds Lys-63-linked ubiquitin generated by RNF8 at ICLs and recruits other components of the FA complex. Promotes translesion synthesis via interaction with REV1.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAAP20 Gene

Genomics for FAAP20 Gene

Regulatory Elements for FAAP20 Gene

Promoters for FAAP20 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FAAP20 on UCSC Golden Path with GeneCards custom track

Genomic Location for FAAP20 Gene

Chromosome:
1
Start:
2,184,460 bp from pter
End:
2,212,720 bp from pter
Size:
28,261 bases
Orientation:
Minus strand

Genomic View for FAAP20 Gene

Genes around FAAP20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAAP20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAAP20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAAP20 Gene

Proteins for FAAP20 Gene

  • Protein details for FAAP20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NZ36-FAP20_HUMAN
    Recommended name:
    Fanconi anemia core complex-associated protein 20
    Protein Accession:
    Q6NZ36
    Secondary Accessions:
    • A6PW39
    • A6PW40
    • A6PW41
    • A8MQT6
    • F2Z2L4
    • Q6ZT64
    • Q71M24
    • Q96ND7

    Protein attributes for FAAP20 Gene

    Size:
    180 amino acids
    Molecular mass:
    19869 Da
    Quaternary structure:
    • Component of the Fanconi anemia (FA) complex. Interacts with FANCA; interaction is direct. Interacts with REV1. Reported to bind monoubiquitinated REV1; however it binds better to non-ubiquitinated REV1 (PubMed:22266823).
    SequenceCaution:
    • Sequence=AAH66360.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FAAP20 Gene

    Alternative splice isoforms for FAAP20 Gene

neXtProt entry for FAAP20 Gene

Proteomics data for FAAP20 Gene at MOPED

Post-translational modifications for FAAP20 Gene

  • Ubiquitination at Lys 83 and Lys 152

No data available for DME Specific Peptides for FAAP20 Gene

Domains & Families for FAAP20 Gene

Protein Domains for FAAP20 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q6NZ36

UniProtKB/Swiss-Prot:

FAP20_HUMAN :
  • The UBZ-type zinc finger binds both Lys-48- and Lys-63-linked polyubiquitin with preference for Lys-63-linked polyubiquitin.
  • Contains 1 UBZ-type zinc finger.
Domain:
  • The UBZ-type zinc finger binds both Lys-48- and Lys-63-linked polyubiquitin with preference for Lys-63-linked polyubiquitin.
Similarity:
  • Contains 1 UBZ-type zinc finger.
genes like me logo Genes that share domains with FAAP20: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for FAAP20 Gene

Function for FAAP20 Gene

Molecular function for FAAP20 Gene

UniProtKB/Swiss-Prot Function:
Component of the Fanconi anemia (FA) complex required to recruit the FA complex to DNA interstrand cross-links (ICLs) and promote ICLs repair. Following DNA damage recognizes and binds Lys-63-linked ubiquitin generated by RNF8 at ICLs and recruits other components of the FA complex. Promotes translesion synthesis via interaction with REV1.

Gene Ontology (GO) - Molecular Function for FAAP20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070530 K63-linked polyubiquitin binding IDA 22343915
genes like me logo Genes that share ontologies with FAAP20: view
genes like me logo Genes that share phenotypes with FAAP20: view

Animal Models for FAAP20 Gene

MGI Knock Outs for FAAP20:

Animal Model Products

miRNA for FAAP20 Gene

miRTarBase miRNAs that target FAAP20

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FAAP20 Gene

Localization for FAAP20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAAP20 Gene

Nucleus. Chromosome. Note=Following DNA damage, recruited to DNA interstrand cross-links (ICLs) sites by binding to ubiquitin generated by RNF8. {ECO:0000269 PubMed:22705371}.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for FAAP20 Gene

Pathways & Interactions for FAAP20 Gene

genes like me logo Genes that share pathways with FAAP20: view

Pathways by source for FAAP20 Gene

2 Reactome pathways for FAAP20 Gene

Gene Ontology (GO) - Biological Process for FAAP20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0036297 interstrand cross-link repair TAS --
genes like me logo Genes that share ontologies with FAAP20: view

No data available for SIGNOR curated interactions for FAAP20 Gene

Drugs & Compounds for FAAP20 Gene

No Compound Related Data Available

Transcripts for FAAP20 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for FAAP20 Gene

No ASD Table

Relevant External Links for FAAP20 Gene

GeneLoc Exon Structure for
FAAP20
ECgene alternative splicing isoforms for
FAAP20

Expression for FAAP20 Gene

No Expression Related Data Available

In Situ Assay Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for FAAP20 Gene

Orthologs for FAAP20 Gene

This gene was present in the common ancestor of mammals.

Orthologs for FAAP20 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia 2610002J02Rik 35
  • 63.01 (n)
  • 56.1 (a)
Faap20 16
2610002J02Rik 36
  • 52 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C1H1orf86 35
  • 99.53 (n)
  • 98.58 (a)
C1orf86 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1308923 35
  • 64.78 (n)
  • 57.23 (a)
cow
(Bos Taurus)
Mammalia FAAP20 36
  • 44 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1orf86 36
  • 29 (a)
OneToOne
Species with no ortholog for FAAP20:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for FAAP20 Gene

ENSEMBL:
Gene Tree for FAAP20 (if available)
TreeFam:
Gene Tree for FAAP20 (if available)

Paralogs for FAAP20 Gene

(1) SIMAP similar genes for FAAP20 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with FAAP20: view

No data available for Paralogs for FAAP20 Gene

Variants for FAAP20 Gene

Sequence variations from dbSNP and Humsavar for FAAP20 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1058411 - 2,193,733(+) GCAGG(A/G)ATCAG nc-transcript-variant, reference, synonymous-codon, missense, utr-variant-5-prime
rs262658 -- 2,201,608(+) tccca(A/G)ttatt intron-variant
rs262659 -- 2,196,630(+) AGGCC(A/G)GGAGT intron-variant, upstream-variant-2KB
rs262684 -- 2,186,920(-) TCTGA(A/C/T)GAGCA intron-variant, utr-variant-5-prime
rs262685 -- 2,186,900(-) TCACA(C/T)ATTGT intron-variant, utr-variant-5-prime

Variation tolerance for FAAP20 Gene

Residual Variation Intolerance Score: 73.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.62; 72.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAAP20 Gene

HapMap Linkage Disequilibrium report
FAAP20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for FAAP20 Gene

Disorders for FAAP20 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAAP20 Gene - From: DISEASES

Disorder Aliases PubMed IDs
fanconi anemia, complementation group a
  • fanconi's anemia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FAAP20

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAAP20
genes like me logo Genes that share disorders with FAAP20: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAAP20 Gene

Publications for FAAP20 Gene

  1. FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway. (PMID: 22343915) Ali A.M. … Meetei A.R. (Blood 2012) 2 3 4 67
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 2 3
  3. RNF4-mediated polyubiquitination regulates the Fanconi anemia/BRCA pathway. (PMID: 25751062) Xie J. … D'Andrea A.D. (J. Clin. Invest. 2015) 3
  4. Structural basis for ubiquitin recognition by ubiquitin-binding zinc finger of FAAP20. (PMID: 25799058) Toma A. … Fukai S. (PLoS ONE 2015) 3
  5. Modularized functions of the Fanconi anemia core complex. (PMID: 24910428) Huang Y. … Li L. (Cell Rep 2014) 3

Products for FAAP20 Gene

Sources for FAAP20 Gene

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