FAN1 (FANCD2 and FANCI associated nuclease 1)

2010-08-01  

Identity

HGNC
FAN1
LOCATION
15q13.3
LOCUSID
22909
ALIAS
KIAA1018,KMIN,MTMR15,hFAN1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 22909
MIM: 613534
HGNC: 29170
Ensembl: ENSG00000198690

Variants:

dbSNP: 22909
ClinVar: 22909
TCGA: ENSG00000198690
COSMIC: FAN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198690ENST00000362065Q9Y2M0
ENSG00000198690ENST00000561594Q9Y2M0
ENSG00000198690ENST00000561607Q9Y2M0
ENSG00000198690ENST00000562892H3BUK3
ENSG00000198690ENST00000565280H3BQ24
ENSG00000198690ENST00000565466Q9Y2M0
ENSG00000198690ENST00000654056A0A590UK78
ENSG00000198690ENST00000656435Q9Y2M0
ENSG00000198690ENST00000657391Q9Y2M0
ENSG00000198690ENST00000658773Q9Y2M0
ENSG00000198690ENST00000661974A0A590UJF5
ENSG00000198690ENST00000664070A0A590UJL5
ENSG00000198690ENST00000664837A0A590UKC0
ENSG00000198690ENST00000666143H3BUK3
ENSG00000198690ENST00000670074A0A590UJ38
ENSG00000198690ENST00000670849Q9Y2M0

Expression (GTEx)

0
5
10
15
20
25
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
DNA RepairREACTOMER-HSA-73894
Fanconi Anemia PathwayREACTOMER-HSA-6783310

References

Pubmed IDYearTitleCitations
206030732010A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair.165
206030152010Identification of KIAA1018/FAN1, a DNA repair nuclease recruited to DNA damage by monoubiquitinated FANCD2.150
206030162010Deficiency of FANCD2-associated nuclease KIAA1018/FAN1 sensitizes cells to interstrand crosslinking agents.137
206711562010FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link repair.127
227723692012FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.84
211158142010KIAA1018/FAN1 nuclease protects cells against genomic instability induced by interstrand cross-linking agents.38
270440002016DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.36
260520752015Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.33
243442802014Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism.31
251354772014FANCD2-controlled chromatin access of the Fanconi-associated nuclease FAN1 is crucial for the recovery of stalled replication forks.30

Citation

Dessen P

FAN1 (FANCD2 and FANCI associated nuclease 1)

Atlas Genet Cytogenet Oncol Haematol. 2010-08-01

Online version: http://atlasgeneticsoncology.org/gene/51602/fan1