Aliases for FAAP20 Gene

Aliases for FAAP20 Gene

  • FA Core Complex Associated Protein 20 2 3 5
  • Fanconi Anemia Core Complex-Associated Protein 20 3 4
  • Fanconi Anemia Core Complex Associated Protein 20 2 3
  • 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 (FA Core Complex Associated Protein 20) is a Protein Coding gene. Diseases associated with FAAP20 include Esophageal Atresia and Fanconi Anemia, Complementation Group T. Among its related pathways are Fanconi anemia pathway and DNA Double-Strand Break Repair.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for FAAP20 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAAP20 Gene

Genomics for FAAP20 Gene

GeneHancer (GH) Regulatory Elements for FAAP20 Gene

Promoters and enhancers for FAAP20 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAAP20 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAAP20

Genomic Locations for FAAP20 Gene

Genomic Locations for FAAP20 Gene
chr1:2,184,460-2,212,720
(GRCh38/hg38)
Size:
28,261 bases
Orientation:
Minus strand
chr1:2,115,899-2,144,159
(GRCh37/hg19)
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).
    Miscellaneous:
    • [Isoform 4]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    SequenceCaution:
    • Sequence=AAH66360.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FAAP20 Gene

    Alternative splice isoforms for FAAP20 Gene

neXtProt entry for FAAP20 Gene

Post-translational modifications for FAAP20 Gene

  • Ubiquitination at Lys83 and Lys152

No data available for DME Specific Peptides for FAAP20 Gene

Domains & Families for FAAP20 Gene

Gene Families for FAAP20 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAAP20 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q6NZ36

UniProtKB/Swiss-Prot:

FAP20_HUMAN :
  • The UBZ2-type zinc finger binds both 'Lys-48'- and 'Lys-63'-linked polyubiquitin with preference for 'Lys-63'-linked polyubiquitin.
Domain:
  • The UBZ2-type zinc finger binds both 'Lys-48'- and 'Lys-63'-linked polyubiquitin with preference for 'Lys-63'-linked polyubiquitin.
genes like me logo Genes that share domains with FAAP20: view

No data available for 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.

Phenotypes From GWAS Catalog for FAAP20 Gene

Gene Ontology (GO) - Molecular Function for FAAP20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22266823
GO:0031593 polyubiquitin modification-dependent protein binding IDA 22396592
GO:0043130 ubiquitin binding IEA --
GO:0046872 metal ion binding IEA --
GO:0070530 K63-linked polyubiquitin modification-dependent protein 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

CRISPR Products

miRNA for FAAP20 Gene

miRTarBase miRNAs that target FAAP20

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAAP20

Clone Products

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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAAP20 gene
Compartment Confidence
nucleus 5
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
  • Cell Junctions (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAAP20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IDA,IEA 22266823
GO:0016604 nuclear body IDA --
GO:0030054 cell junction IDA --
genes like me logo Genes that share ontologies with FAAP20: view

Pathways & Interactions for FAAP20 Gene

PathCards logo

SuperPathways 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:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IDA,IBA 22266823
GO:0019985 translesion synthesis IMP 22266823
GO:0036297 interstrand cross-link repair TAS,IMP --
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

mRNA/cDNA for FAAP20 Gene

9 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAAP20

Clone Products

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

No ASD Table

Relevant External Links for FAAP20 Gene

GeneLoc Exon Structure for
FAAP20

Expression for FAAP20 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAAP20

Evidence on tissue expression from TISSUES for FAAP20 Gene

  • Nervous system(4.4)
No Expression Related Data Available

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 , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia C1H1orf86 30
  • 99.53 (n)
C1orf86 31
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1308923 30
  • 64.78 (n)
mouse
(Mus musculus)
Mammalia 2610002J02Rik 31 30
  • 63.01 (n)
OneToOne
Faap20 17
cow
(Bos Taurus)
Mammalia FAAP20 31
  • 44 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1orf86 31
  • 29 (a)
OneToOne
Species where no ortholog for FAAP20 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FAAP20: view image

Paralogs for FAAP20 Gene

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

  • FAP20_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAAP20 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
723573 Benign: not provided 2,184,994(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
rs1058411 - p.Pro126Ser

Additional dbSNP identifiers (rs#s) for FAAP20 Gene

Structural Variations from Database of Genomic Variants (DGV) for FAAP20 Gene

Variant ID Type Subtype PubMed ID
dgv48n54 CNV loss 21841781
dgv49n54 CNV loss 21841781
nsv1074484 CNV deletion 25765185
nsv1075013 CNV deletion 25765185
nsv1112517 CNV deletion 24896259
nsv461727 CNV loss 19166990
nsv463949 CNV loss 19166990
nsv470682 CNV loss 18288195
nsv482937 CNV loss 15286789
nsv545067 CNV loss 21841781
nsv818111 CNV loss 17921354
nsv834557 CNV loss 17160897
nsv951530 CNV deletion 24416366

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)

Additional Variant Information for FAAP20 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAAP20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAAP20 Gene

Disorders for FAAP20 Gene

MalaCards: The human disease database

(6) MalaCards diseases for FAAP20 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 AM … Meetei AR (Blood 2012) 2 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4 54
  3. A ubiquitin-binding protein, FAAP20, links RNF8-mediated ubiquitination to the Fanconi anemia DNA repair network. (PMID: 22705371) Yan Z … Wang W (Molecular cell 2012) 3 4 54
  4. Regulation of Rev1 by the Fanconi anemia core complex. (PMID: 22266823) Kim H … D'Andrea AD (Nature structural & molecular biology 2012) 3 4 54
  5. Fanconi anemia (FA) binding protein FAAP20 stabilizes FA complementation group A (FANCA) and participates in interstrand cross-link repair. (PMID: 22396592) Leung JW … Chen J (Proceedings of the National Academy of Sciences of the United States of America 2012) 3 4 54

Products for FAAP20 Gene

Sources for FAAP20 Gene