FANCI (FA complementation group I)

2008-07-01  

Identity

HGNC
FANCI
LOCATION
15q26.1
LOCUSID
55215
ALIAS
KIAA1794
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55215
MIM: 611360
HGNC: 25568
Ensembl: ENSG00000140525

Variants:

dbSNP: 55215
ClinVar: 55215
TCGA: ENSG00000140525
COSMIC: FANCI

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140525ENST00000300027Q9NVI1
ENSG00000140525ENST00000310775Q9NVI1
ENSG00000140525ENST00000447611F8W7R3
ENSG00000140525ENST00000561894H3BP78
ENSG00000140525ENST00000563250H3BT54
ENSG00000140525ENST00000564920H3BS60
ENSG00000140525ENST00000565255H3BMG4
ENSG00000140525ENST00000567891H3BQE2
ENSG00000140525ENST00000567996Q9NVI1
ENSG00000140525ENST00000570225H3BN35

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Fanconi anemia pathwayKEGGko03460
Fanconi anemia pathwayKEGGhsa03460
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
DNA RepairREACTOMER-HSA-73894
Fanconi Anemia PathwayREACTOMER-HSA-6783310
TP53 Regulates Transcription of DNA Repair GenesREACTOMER-HSA-6796648

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
174124082007Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair.338
194659222009Replication stress induces sister-chromatid bridging at fragile site loci in mitosis.258
174606942007FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.134
206711562010FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link repair.127
189316762008FANCI phosphorylation functions as a molecular switch to turn on the Fanconi anemia pathway.109
191116572008Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI.94
174527732007Identification of the Fanconi anemia complementation group I gene, FANCI.66
258436232015ATR-mediated phosphorylation of FANCI regulates dormant origin firing in response to replication stress.55
213550962011The E3 ubiquitin ligase RAD18 regulates ubiquitylation and chromatin loading of FANCD2 and FANCI.43
195897842009FANCI binds branched DNA and is monoubiquitinated by UBE2T-FANCL.41

Citation

Dessen P

FANCI (FA complementation group I)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50208/fanci