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

Gene ID: 55215, updated on 15-Jun-2019

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

Genomic context

See FANCI in Genome Data Viewer
Location:
15q26.1
Exon count:
38
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (89243954..89317132)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (89785634..89860362)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene abhydrolase domain containing 2 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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...
  • 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...
  • Gastric Cancer Network 2, organism-specific biosystem (from WikiPathways)
    Gastric Cancer Network 2, organism-specific biosystemNetwork generated by mapping candidate oncogenes and tumor suppressor genes identified by integrated analysis of expression array and aCGH data. Network generated by Ingenuity Pathway Analysis.
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • TP53 Regulates Transcription of DNA Repair Genes, organism-specific biosystem (from REACTOME)
    TP53 Regulates Transcription of DNA Repair Genes, organism-specific biosystemSeveral DNA repair genes contain p53 response elements and their transcription is positively regulated by TP53 (p53). TP53-mediated regulation probably ensures increased protein level of DNA repair g...
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
    Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...

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
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA polymerase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA polymerase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell cycle IEA
Inferred from Electronic Annotation
more info
 
interstrand cross-link repair TAS
Traceable Author Statement
more info
 
positive regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
membrane HDA PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
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)

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_001113378.1NP_001106849.1  Fanconi anemia group I protein isoform 1

    See identical proteins and their annotated locations for NP_001106849.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC124068, BU187299, EF567077
    Consensus CDS
    CCDS45346.1
    UniProtKB/Swiss-Prot
    Q9NVI1
    Related
    ENSP00000310842.7, ENST00000310775.11
    Conserved Domains (2) summary
    cd11720
    Location:431290
    FANCI; Fanconi anemia I protein
    pfam14674
    Location:153
    FANCI_S1-cap; FANCI solenoid 1 cap
  2. 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 Annotation Release 109

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
    89243954..89317259
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521757.2XP_011520059.1  Fanconi anemia group I protein isoform X1

    See identical proteins and their annotated locations for XP_011520059.1

    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_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
  3. 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
    Conserved Domains (2) summary
    cd11720
    Location:431230
    FANCI; Fanconi anemia I protein
    pfam14674
    Location:153
    FANCI_S1-cap; FANCI solenoid 1 cap
  4. XM_011521767.2XP_011520069.1  Fanconi anemia group I protein isoform X3

    See identical proteins and their annotated locations for XP_011520069.1

    Conserved Domains (1) summary
    cd11720
    Location:11197
    FANCI; Fanconi anemia I protein
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