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Aliases for FANCA Gene

Aliases for FANCA Gene

  • Fanconi Anemia, Complementation Group A 2 3
  • FACA 3 4 6
  • FAA 3 4 6
  • FANCH 3 4
  • FA1 3 6
  • FA 3 6
  • Fanconi Anemia, Complementation Group H 3
  • Fanconi Anemia Group A Protein 3
  • Fanconi Anemia, Type 1 3
  • Protein FACA 4
  • FA-H 3
  • FAH 3

External Ids for FANCA Gene

Previous HGNC Symbols for FANCA Gene

  • FACA
  • FANCH

Previous GeneCards Identifiers for FANCA Gene

  • GC16M081125
  • GC16M090792
  • GC16M089506
  • GC16M089547
  • GC16M088332
  • GC16M089803
  • GC16M075499

Summaries for FANCA Gene

Entrez Gene Summary for FANCA Gene

  • The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]

GeneCards Summary for FANCA Gene

FANCA (Fanconi Anemia, Complementation Group A) is a Protein Coding gene. Diseases associated with FANCA include fanconi anemia, complementation group a and fanca-related fanconi anemia. Among its related pathways are Metabolism and Metabolism.

UniProtKB/Swiss-Prot for FANCA Gene

  • DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability

Gene Wiki entry for FANCA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FANCA Gene

Genomics for FANCA Gene

Regulatory Elements for FANCA Gene

Genomic Location for FANCA Gene

Start:
89,737,549 bp from pter
End:
89,816,658 bp from pter
Size:
79,110 bases
Orientation:
Minus strand

Genomic View for FANCA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FANCA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FANCA Gene

Proteins for FANCA Gene

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

    Protein Symbol:
    O15360-FANCA_HUMAN
    Recommended name:
    Fanconi anemia group A protein
    Protein Accession:
    O15360
    Secondary Accessions:
    • A5D923
    • B4DRI7
    • H3BSR5
    • O75266
    • Q6PL10
    • Q92497
    • Q96H18
    • Q9UEA5
    • Q9UEL8
    • Q9UEL9
    • Q9UPK3
    • Q9Y6M2

    Protein attributes for FANCA Gene

    Size:
    1455 amino acids
    Molecular mass:
    162775 Da
    Quaternary structure:
    • Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. In complex with FANCF, FANCG and FANCL, but not with FANCC, nor FANCE, interacts with HES1; this interaction may be essential for the stability and nuclear localization of FA core complex proteins. The complex with FANCC and FANCG may also include EIF2AK2 and HSP70. Interacts with FAAP20/C1orf86; interaction is direct.

    Alternative splice isoforms for FANCA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FANCA Gene

Proteomics data for FANCA Gene at MOPED

Post-translational modifications for FANCA Gene

  • Phosphorylation is required for the formation of the nuclear complex. Not phosphorylated in cells derived from groups A, B, C, E, F, G, and H.
  • Ubiquitination at Lys76, Lys293, Lys515, Lys612, Lys1199, Lys1387, Lys1398, and Lys1413
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FANCA Gene

Domains for FANCA Gene

Gene Families for FANCA Gene

HGNC:
  • FANC :Fanconi anemia, complementation groups

Protein Domains for FANCA Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FANCA: view

No data available for UniProtKB/Swiss-Prot for FANCA Gene

Function for FANCA Gene

Molecular function for FANCA Gene

GENATLAS Biochemistry: putative nuclear protein with a nuclear localization signal and partial b leucine-zipper,involved in genomic stability and control of apoptosis,complexing with XRCC9
UniProtKB/Swiss-Prot Function: DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability

Gene Ontology (GO) - Molecular Function for FANCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10627486
genes like me logo Genes that share ontologies with FANCA: view
genes like me logo Genes that share phenotypes with FANCA: view

Animal Models for FANCA Gene

MGI Knock Outs for FANCA:

miRNA for FANCA Gene

miRTarBase miRNAs that target FANCA

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for FANCA Gene

Localization for FANCA Gene

Subcellular locations from UniProtKB/Swiss-Prot for FANCA Gene

Nucleus. Cytoplasm. Note=The major form is nuclear. The minor form is cytoplasmic.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FANCA Gene COMPARTMENTS Subcellular localization image for FANCA gene
Compartment Confidence
nucleus 5
cytosol 1
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for FANCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 11726552
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA --
GO:0043240 Fanconi anaemia nuclear complex IDA 20347428
genes like me logo Genes that share ontologies with FANCA: view

Pathways for FANCA Gene

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

Gene Ontology (GO) - Biological Process for FANCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair TAS --
GO:0006461 protein complex assembly TAS 9398857
GO:0007140 male meiosis IEA --
GO:0008584 male gonad development IEA --
GO:0008585 female gonad development IEA --
genes like me logo Genes that share ontologies with FANCA: view

Compounds for FANCA Gene

(7) Novoseek inferred chemical compound relationships for FANCA Gene

Compound -log(P) Hits PubMed IDs
diepoxybutane 84.2 1
mitomycin c 79.8 14
psoralen 31.4 2
leucine 28.6 4
alanine 2.83 1
genes like me logo Genes that share compounds with FANCA: view

Transcripts for FANCA Gene

Unigene Clusters for FANCA Gene

Fanconi anemia, complementation group A:
Representative Sequences:

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

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b · 17c · 17d ·
SP1: - -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12: - -
SP13:
SP14:
SP15:

ExUns: 17e ^ 18a · 18b ^ 19a · 19b · 19c ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b ^ 27
SP1:
SP2:
SP3: -
SP4: - -
SP5: - -
SP6: - - -
SP7: - - - -
SP8:
SP9: -
SP10:
SP11: -
SP12:
SP13:
SP14:
SP15:

Relevant External Links for FANCA Gene

GeneLoc Exon Structure for
FANCA
ECgene alternative splicing isoforms for
FANCA

Expression for FANCA Gene

mRNA expression in normal human tissues for FANCA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FANCA Gene

This gene is overexpressed in Testis (7.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FANCA Gene

SOURCE GeneReport for Unigene cluster for FANCA Gene Hs.744083

genes like me logo Genes that share expressions with FANCA: view

No data available for mRNA Expression by UniProt/SwissProt for FANCA Gene

Orthologs for FANCA Gene

This gene was present in the common ancestor of chordates.

Orthologs for FANCA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FANCA 35
  • 97.43 (n)
  • 96.92 (a)
FANCA 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FANCA 35
  • 74.16 (n)
  • 68.05 (a)
FANCA 36
  • 67 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FANCA 35
  • 77.02 (n)
  • 70.12 (a)
FANCA 36
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fanca 35
  • 74.16 (n)
  • 67.13 (a)
Fanca 16
Fanca 36
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FANCA 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 58 (a)
OneToMany
-- 36
  • 57 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Fanca 35
  • 74.92 (n)
  • 68.41 (a)
chicken
(Gallus gallus)
Aves FANCA 35
  • 58.76 (n)
  • 50.32 (a)
FANCA 36
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FANCA 36
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fanca 35
  • 52.5 (n)
  • 43.06 (a)
Str.2946 35
zebrafish
(Danio rerio)
Actinopterygii fanca 35
  • 50.24 (n)
  • 37.93 (a)
FANCA 36
  • 28 (a)
OneToOne
Species with no ortholog for FANCA:
  • 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FANCA Gene

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

Paralogs for FANCA Gene

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

No data available for Paralogs for FANCA Gene

Variants for FANCA Gene

Sequence variations from dbSNP and Humsavar for FANCA Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs3856 -- 89,792,600(-) AAAAC(C/T)CACAA intron-variant
rs886950 -- 89,770,464(-) TCCGC(A/G)GGAGC intron-variant
rs886951 -- 89,770,457(-) GAGCA(C/T)GCGGC intron-variant
rs886952 -- 89,770,373(-) GACCA(C/T)TGTTT intron-variant
rs1006547 -- 89,777,821(-) GGAGA(A/G)CTGAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv428331 CNV Gain+Loss 18775914
dgv3008n71 CNV Loss 21882294
dgv3009n71 CNV Loss 21882294
nsv509639 CNV Insertion 20534489
nsv457623 CNV Gain 19166990
nsv907425 CNV Loss 21882294
nsv833330 CNV Loss 17160897
nsv907429 CNV Loss 21882294
nsv1931 CNV Insertion 18451855
nsv833331 CNV Gain+Loss 17160897
nsv907430 CNV Gain 21882294
nsv457624 CNV Loss 19166990
esv28489 CNV Loss 19812545
esv4738 CNV Deletion 18987735
esv2715202 CNV Deletion 23290073
esv1710087 CNV Deletion 17803354
esv1172602 CNV Deletion 17803354
nsv907431 CNV Loss 21882294
nsv457625 CNV Loss 19166990
nsv907432 CNV Loss 21882294
nsv907433 CNV Loss 21882294
dgv923e1 CNV Complex 17122850
dgv3013n71 CNV Loss 21882294
dgv3014n71 CNV Loss 21882294
dgv3015n71 CNV Loss 21882294

Relevant External Links for FANCA Gene

HapMap Linkage Disequilibrium report
FANCA
Human Gene Mutation Database (HGMD)
FANCA
Locus Specific Mutation Databases (LSDB)
FANCA

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

Disorders for FANCA Gene

(1) OMIM Diseases for FANCA Gene (607139)

UniProtKB/Swiss-Prot

FANCA_HUMAN
  • Fanconi anemia (FA) [MIM:227650]: A genetically heterogeneous disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269 PubMed:10094191, ECO:0000269 PubMed:10210316, ECO:0000269 PubMed:10521298, ECO:0000269 PubMed:10807541, ECO:0000269 PubMed:11091222, ECO:0000269 PubMed:17924555, ECO:0000269 PubMed:9371798, ECO:0000269 PubMed:9399890, ECO:0000269 PubMed:9929978}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for FANCA Gene

(11) Novoseek inferred disease relationships for FANCA Gene

Disease -log(P) Hits PubMed IDs
fanconis anemia 97.7 47
congenital malformation 68.8 2
cancer 48.7 6
hnscc 45.6 1
anemia 44.8 6

Genatlas disease for FANCA Gene

Fanconi anemia,autosomal recessive,complementation group A,representing more than 50% of cases,with high frequency of somatic mosaicism,characterized by progressive bone marrow failure (pancytopenia),often associated with skeletal abnormalities and an increased cancer risk and with spontaneous chromosomal breakage exacerbated by exposure to DNA cross-linking agents

Relevant External Links for FANCA

GeneTests
FANCA
GeneReviews
FANCA
Genetic Association Database (GAD)
FANCA
Human Genome Epidemiology (HuGE) Navigator
FANCA
genes like me logo Genes that share disorders with FANCA: view

Publications for FANCA Gene

  1. Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3. (PMID: 7581462) Pronk J.C. … Jansen S. (Nat. Genet. 1995) 2 3 23
  2. Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. (PMID: 8896563) Lo Ten Foe J.R. … Joenje H. (Nat. Genet. 1996) 3 4 23
  3. Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions. (PMID: 9721219) Centra M. … Savoia A. (Genomics 1998) 3 4 23
  4. A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation. (PMID: 10210316) Kupfer G. … D'Andrea A.D. (Exp. Hematol. 1999) 3 4 23
  5. Sequence variation in the Fanconi anemia gene FAA. (PMID: 9371798) Levran O. … Auerbach A.D. (Proc. Natl. Acad. Sci. U.S.A. 1997) 3 4 23

Products for FANCA Gene

Sources for FANCA Gene

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