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FANCA Fanconi anemia, complementation group A [ Homo sapiens (human) ]

Gene ID: 2175, updated on 12-Apr-2014
Official Symbol
FANCAprovided by HGNC
Official Full Name
Fanconi anemia, complementation group Aprovided by HGNC
Primary source
HGNC:3582
See related
Ensembl:ENSG00000187741; HPRD:06186; MIM:607139; Vega:OTTHUMG00000173049
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FA; FA1; FAA; FAH; FA-H; FACA; FANCH
Summary
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]
Location :
16q24.3
Sequence :
Chromosome: 16; NC_000016.10 (89737551..89816658, complement)
See FANCA in Epigenomics, MapViewer

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene cyclin-dependent kinase 10 Neighboring gene spermatogenesis associated 2-like Neighboring gene VPS9D1 antisense RNA 1 Neighboring gene VPS9 domain containing 1 Neighboring gene zinc finger protein 276 Neighboring gene uncharacterized LOC102724730 Neighboring gene spire-type actin nucleation factor 2 Neighboring gene transcription factor 25 (basic helix-loop-helix)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Fanconi anemia, complementation group A
MedGen: C3469521 OMIM: 227650 GeneReviews: Fanconi Anemia
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NHGRI GWAS Catalog

Description
Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
NHGRI GWA Catalog
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption.
NHGRI GWA Catalog
Web-based, participant-driven studies yield novel genetic associations for common traits.
NHGRI GWA Catalog
  • BARD1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    BARD1 signaling events, organism-specific biosystem
    BARD1 signaling events
  • 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. These cellular mechanisms that must cope with the plethora of DNA base pair ad...
  • 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA repair TAS
Traceable Author Statement
more info
 
female gonad development IEA
Inferred from Electronic Annotation
more info
 
male gonad development IEA
Inferred from Electronic Annotation
more info
 
male meiosis IEA
Inferred from Electronic Annotation
more info
 
protein complex assembly TAS
Traceable Author Statement
more info
PubMed 
regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Fanconi anaemia nuclear complex IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
Fanconi anemia group A protein
Names
Fanconi anemia group A protein
Fanconi anemia, type 1
Fanconi anemia, complementation group H

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.

Genomic

  1. NG_011706.1 RefSeqGene

    Range
    5001..84107
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_495

mRNA and Protein(s)

  1. NM_000135.2NP_000126.2  Fanconi anemia group A protein isoform a

    See proteins identical to NP_000126.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC005360, AC005567, BC064540, X99226
    Consensus CDS
    CCDS32515.1
    UniProtKB/Swiss-Prot
    O15360
    UniProtKB/TrEMBL
    Q86U55
    Related
    ENSP00000373952, OTTHUMP00000250019, ENST00000389301, OTTHUMT00000421927
    Conserved Domains (1) summary
    pfam03511
    Location:12531312
    Blast Score: 235
    Fanconi_A; Fanconi anaemia group A protein
  2. NM_001018112.1NP_001018122.1  Fanconi anemia group A protein isoform b

    See proteins identical to NP_001018122.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon, which results in an early stop codon, compared to variant 1. The resulting protein (isoform b) has a shorter C-terminus, compared to isoform a.
    Source sequence(s)
    AC005567, BC008979, BC064540
    Consensus CDS
    CCDS42221.1
    UniProtKB/Swiss-Prot
    O15360
    UniProtKB/TrEMBL
    Q86U55
    Related
    ENSP00000373953, OTTHUMP00000250051, ENST00000389302, OTTHUMT00000422008
  3. NM_001286167.1NP_001273096.1  Fanconi anemia group A protein isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice junction in a 3' coding exon compared to variant 1, that causes a frameshift. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC005360, AK299282, BC064540, X99226
    Consensus CDS
    CCDS67099.1
    UniProtKB/TrEMBL
    B4DRI7
    UniProtKB/TrEMBL
    H3BSR5
    UniProtKB/Swiss-Prot
    O15360
    UniProtKB/TrEMBL
    Q86U55
    Conserved Domains (1) summary
    pfam03511
    Location:12531312
    Blast Score: 235
    Fanconi_A; Fanconi anaemia group A protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10

    Range
    89737551..89816658, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721167.1XP_006721230.1  

    Conserved Domains (1) summary
    pfam03511
    Location:12101269
    Blast Score: 234
    Fanconi_A; Fanconi anaemia group A protein
  2. XM_006721168.1XP_006721231.1  

    Conserved Domains (1) summary
    pfam03511
    Location:912971
    Blast Score: 235
    Fanconi_A; Fanconi anaemia group A protein
  3. XM_005256294.2XP_005256351.1  

    Conserved Domains (1) summary
    pfam03511
    Location:12531312
    Blast Score: 236
    Fanconi_A; Fanconi anaemia group A protein

Alternate HuRef

Genomic

  1. AC_000148.1 Alternate HuRef

    Range
    75499171..75578023, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    91215162..91294341, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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