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

    Gene ID: 2175, updated on 25-Aug-2016
    Official Symbol
    FANCAprovided by HGNC
    Official Full Name
    Fanconi anemia complementation group Aprovided by HGNC
    Primary source
    HGNC: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]
    Orthologs
    Location:
    16q24.3
    Exon count:
    46
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (89737551..89816658, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (89803959..89883066, complement)

    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 LOC107984817 Neighboring gene spire type actin nucleation factor 2 Neighboring gene uncharacterized LOC107984818

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    • 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. 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)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC75158

    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
    PubMed 
    female gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    interstrand cross-link repair TAS
    Traceable Author Statement
    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
    PubMed 
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm 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, complementation group H
    Fanconi anemia, type 1

    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 identical proteins and their annotated locations for 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 (2) summary
      pfam03511
      Location:12661312
      Fanconi_A; Fanconi anaemia group A protein
      pfam15865
      Location:172522
      Fanconi_A_N; Fanconi anaemia group A protein N terminus
    2. NM_001018112.1NP_001018122.1  Fanconi anemia group A protein isoform b

      See identical proteins and their annotated locations for 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/Swiss-Prot
      O15360
      UniProtKB/TrEMBL
      Q86U55
      Related
      ENSP00000456829, OTTHUMP00000250020, ENST00000568369, OTTHUMT00000421928
      Conserved Domains (1) summary
      pfam03511
      Location:12531312
      Fanconi_A; Fanconi anaemia group A protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017023044.1XP_016878533.1  

    2. XM_011522945.2XP_011521247.1  

      Conserved Domains (1) summary
      pfam03511
      Location:12101269
      Fanconi_A; Fanconi anaemia group A protein
    3. XM_005256294.4XP_005256351.1  

      Conserved Domains (1) summary
      pfam03511
      Location:12531312
      Fanconi_A; Fanconi anaemia group A protein
    4. XM_011522946.2XP_011521248.1  

      See identical proteins and their annotated locations for XP_011521248.1

      Conserved Domains (1) summary
      pfam03511
      Location:912971
      Fanconi_A; Fanconi anaemia group A protein
    5. XM_011522947.2XP_011521249.1  

      See identical proteins and their annotated locations for XP_011521249.1

      Conserved Domains (1) summary
      pfam03511
      Location:912971
      Fanconi_A; Fanconi anaemia group A protein
    6. XM_017023045.1XP_016878534.1  

    7. XM_011522948.2XP_011521250.1  

    8. XM_017023046.1XP_016878535.1  

    RNA

    1. XR_933245.1 RNA Sequence

    2. XR_933244.1 RNA Sequence

    3. XR_001751866.1 RNA Sequence

    4. XR_933247.1 RNA Sequence

    5. XR_001751867.1 RNA Sequence

    6. XR_001751869.1 RNA Sequence

    7. XR_001751868.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

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