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    FANCI FA complementation group I [ Homo sapiens (human) ]

    Gene ID: 55215, updated on 8-Jul-2021

    Summary

    Official Symbol
    FANCIprovided by HGNC
    Official Full Name
    FA complementation group Iprovided by HGNC
    Primary source
    HGNC:HGNC:25568
    See related
    Ensembl:ENSG00000140525 MIM:611360
    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
    KIAA1794
    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 I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 20.6), lymph node (RPKM 12.1) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See FANCI in Genome Data Viewer
    Location:
    15q26.1
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (89243973..89317259)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (89787210..89860490)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene abhydrolase domain containing 2, acylglycerol lipase Neighboring gene vesicle-associated membrane protein-associated protein A pseudogene Neighboring gene retinaldehyde binding protein 1 Neighboring gene tRNA-Arg (anticodon TCG) 1-1 Neighboring gene DNA polymerase gamma, catalytic subunit Neighboring gene microRNA 6766

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ10719

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA polymerase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables DNA polymerase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within positive regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    Fanconi anemia group I protein
    Names
    Fanconi anemia complementation group I

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_011736.1 RefSeqGene

      Range
      5001..78169
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_500

    mRNA and Protein(s)

    1. NM_001113378.2NP_001106849.1  Fanconi anemia group I protein isoform 1

      See identical proteins and their annotated locations for NP_001106849.1

      Status: REVIEWED

      Source sequence(s)
      AC124068, BU187299, EF567077
      Consensus CDS
      CCDS45346.1
      UniProtKB/Swiss-Prot
      Q9NVI1
      Related
      ENSP00000310842.8, ENST00000310775.12
      Conserved Domains (2) summary
      cd11720
      Location:431290
      FANCI; Fanconi anemia I protein
      pfam14674
      Location:153
      FANCI_S1-cap; FANCI solenoid 1 cap
    2. NM_001376910.1NP_001363839.1  Fanconi anemia group I protein isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC124068, KF459561
      Related
      ENSP00000455189.1, ENST00000561894.1
      Conserved Domains (1) summary
      cd11720
      Location:11197
      FANCI; Fanconi anemia I protein
    3. NM_001376911.1NP_001363840.1  Fanconi anemia group I protein isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1 and 4 encode the same isoform.
      Source sequence(s)
      AC124068, KF459561
      Related
      ENSP00000502254.1, ENST00000676003.1
      Conserved Domains (2) summary
      cd11720
      Location:431290
      FANCI; Fanconi anemia I protein
      pfam14674
      Location:153
      FANCI_S1-cap; FANCI solenoid 1 cap
    4. NM_018193.3NP_060663.2  Fanconi anemia group I protein isoform 2

      See identical proteins and their annotated locations for NP_060663.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the coding region compared to variant 1. The encoded isoform (2) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC124068, AK027564, AK055176, BM461935, BQ050477, BU187299, CN365698
      Consensus CDS
      CCDS10349.2
      UniProtKB/Swiss-Prot
      Q9NVI1
      UniProtKB/TrEMBL
      B3KNW8
      Related
      ENSP00000300027.8, ENST00000300027.12
      Conserved Domains (2) summary
      cd11720
      Location:431230
      FANCI; Fanconi anemia I protein
      pfam14674
      Location:153
      FANCI_S1-cap; FANCI solenoid 1 cap

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

      Range
      89243973..89317259
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521756.2XP_011520058.1  Fanconi anemia group I protein isoform X1

      See identical proteins and their annotated locations for XP_011520058.1

      UniProtKB/Swiss-Prot
      Q9NVI1
      Conserved Domains (2) summary
      cd11720
      Location:431290
      FANCI; Fanconi anemia I protein
      pfam14674
      Location:153
      FANCI_S1-cap; FANCI solenoid 1 cap
    2. XM_011521764.2XP_011520066.1  Fanconi anemia group I protein isoform X2

      See identical proteins and their annotated locations for XP_011520066.1

      UniProtKB/Swiss-Prot
      Q9NVI1
      Related
      ENSP00000413249.2, ENST00000447611.6
      Conserved Domains (2) summary
      cd11720
      Location:431230
      FANCI; Fanconi anemia I protein
      pfam14674
      Location:153
      FANCI_S1-cap; FANCI solenoid 1 cap
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