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GeneQ18041663· pop 6· linked from 59 articles

FANCI

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Also known as KIAA1794, Fanconi anemia complementation group I, FA complementation group I

Fanconi anemia, complementation group I (FANCI) also known as KIAA1794, is a protein which in humans is encoded by the FANCI gene. Mutations in the FANCI gene are known to cause Fanconi anemia.

Gene data

FANCI
Name
FA complementation group I
Type
protein-coding
Position
89,243,854–89,318,091 (+)
Aliases
KIAA1794
Ensembl
ENSG00000140525
RefSeq RNA
NM_001113378.2, NM_001376910.1, NM_001376911.1, NM_018193.3, XM_011521756.3
RefSeq protein
NP_001106849.1, NP_001363839.1, NP_001363840.1, NP_060663.2, XP_011520058.1

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].

Gene Ontology

Pathways

Fanconi anemia pathway - Homo sapiens (human)Generic Transcription PathwayTranscriptional Regulation by TP53Fanconi Anemia PathwayTP53 Regulates Transcription of DNA Repair GenesRNA Polymerase II TranscriptionDNA RepairGene expression (Transcription)Gastric Cancer Network 2DNA Repair Pathways Full Network

via MyGene.info

Gene · Ensembl

FA complementation group I

Symbol
FANCI
Biotype
Protein coding
Organism
Homo sapiens
Location
15:89,243,854-89,318,091
Strand
Forward (+)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

~3 min read

Encyclopedic overview

5 sections
Contents
  • Function
  • Meiosis
  • References
  • Further reading
  • External links

Fanconi anemia, complementation group I (FANCI) also known as KIAA1794, is a protein which in humans is encoded by the FANCI gene. Mutations in the FANCI gene are known to cause Fanconi anemia.

== Function ==

Excerpted from Wikipedia’s “FANCI” article, available under the CC BY-SA 4.0 licence.

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