| Gene Symbol | FANCI |
| Entrez ID | 55215 |
| Uniprot ID | Q9NVI1 |
| Description | Fanconi anemia complementation group I |
| Chromosomal Location | chr15: 89,243,949-89,317,261 |
| Ontology | GO ID | GO Term | Definition | Evidence |
|---|---|---|---|---|
|
BP |
GO:0007095 |
mitotic G2 DNA damage checkpoint |
A mitotic cell cycle checkpoint that detects and negatively regulates progression through the G2/M transition of the cell cycle in response to DNA damage. |
IBA |
|
BP |
GO:0031398 |
positive regulation of protein ubiquitination |
Any process that activates or increases the frequency, rate or extent of the addition of ubiquitin groups to a protein. |
IDA |
|
BP |
GO:0036297 |
interstrand cross-link repair |
Removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication. |
TAS |
|
CC |
GO:0005654 |
nucleoplasm |
That part of the nuclear content other than the chromosomes or the nucleolus. |
IDA|TAS |
|
CC |
GO:0005737 |
cytoplasm |
All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
IDA |
|
CC |
GO:0016020 |
membrane |
A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
IDA |
|
MF |
GO:0003677 |
DNA binding |
Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
IEA |
|
MF |
GO:0005515 |
protein binding |
Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). |
IPI |
|
MF |
GO:0070182 |
DNA polymerase binding |
Interacting selectively and non-covalently with a DNA polymerase. |
IPI |
| Domain ID | Description |
|---|---|
|
IPR026171 |
Fanconi anemia group I protein |
|
IPR029305 |
FANCI solenoid 1 cap |
|
IPR029308 |
FANCI solenoid 1 domain |
|
IPR029310 |
FANCI helical domain 1 |
|
IPR029312 |
FANCI helical domain 2 |
|
IPR029313 |
FANCI solenoid 3 domain |
|
IPR029314 |
FANCI solenoid 4 domain |
|
IPR029315 |
FANCI solenoid 2 domain |
| Pathway ID | Pathway Term | Pathway Source |
|---|---|---|
|
hsa03460 |
Fanconi anemia pathway |
KEGG |
|
WP2363 |
Gastric Cancer Network 2 |
WikiPathways |
| UMLS CUI | UMLS Term |
|---|---|
|
C0015625 |
Fanconi Anemia |
|
C0017661 |
Iga Glomerulonephritis |
|
C0031117 |
Peripheral Neuropathy |
| Tissue | Cell Type |
|---|---|
|
bone marrow |
hematopoietic cells |
|
placenta |
trophoblastic cells |
|
seminal vesicle |
glandular cells |
|
skin |
melanocytes |
|
testis |
cells in seminiferous ducts |
|
testis |
Leydig cells |
| Pubmed ID | Author | Year | Title |
|---|---|---|---|
|
22617121 |
Ouandaogo et al. |
2012 |
Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation |
| Gene Symbol | Entrez ID | Uniprot ID | Score |
|---|---|---|---|
|
IMPDH2 |
3615 |
P12268 |
0.49 |
|
APP |
351 |
P05067 |
0.56 |
|
REV1 |
51455 |
Q9UBZ9 |
0.63 |
|
FANCL |
55120 |
Q9NW38 |
0.63 |
|
FAAP20 |
199990 |
Q6NZ36 |
0.63 |
|
DDOST |
1650 |
P39656 |
0.72 |
|
STXBP2 |
6813 |
Q15833 |
0.72 |
|
PAPSS1 |
9061 |
O43252 |
0.72 |
|
CIR1 |
9541 |
Q86X95 |
0.72 |
|
DGCR8 |
54487 |
Q8WYQ5 |
0.72 |
|
IMPACT |
55364 |
Q9P2X3 |
0.72 |
|
PRR3 |
80742 |
P79522 |
0.72 |
|
DPY30 |
84661 |
Q9C005 |
0.72 |
|
PLEKHA8 |
84725 |
Q96JA3 |
0.72 |
|
TIMM23 |
100287932 |
O14925 |
0.72 |
|
FANCD2 |
2177 |
Q9BXW9 |
0.89 |
|
CEP120 |
153241 |
Q8N960 |
0.49 |
|
RAD18 |
56852 |
Q9NS91 |
0.52 |
|
CDC5L |
988 |
Q99459 |
0.63 |
|
EMD |
2010 |
P50402 |
0.63 |
|
MOV10 |
4343 |
Q9HCE1 |
0.63 |
|
MTNR1B |
4544 |
P49286 |
0.63 |
|
NTRK1 |
4914 |
P04629 |
0.63 |
|
ABCE1 |
6059 |
P61221 |
0.63 |
|
VCP |
7415 |
P55072 |
0.63 |
|
CUL3 |
8452 |
Q13618 |
0.63 |
|
TSC22D1 |
8848 |
Q15714 |
0.63 |
|
KIAA0101 |
9768 |
Q15004 |
0.63 |
|
NXF1 |
10482 |
Q9UBU9 |
0.63 |
|
UBD |
10537 |
O15205 |
0.63 |
|
HBS1L |
10767 |
Q9Y450 |
0.63 |
|
FAN1 |
22909 |
Q9Y2M0 |
0.63 |
|
SNW1 |
22938 |
Q13573 |
0.63 |
|
HACD3 |
51495 |
Q9P035 |
0.63 |
|
SIRT7 |
51547 |
Q9NRC8 |
0.63 |
|
PIDD1 |
55367 |
Q9HB75 |
0.63 |
|
MMS19 |
64210 |
Q96T76 |
0.63 |
|
POLN |
353497 |
Q7Z5Q5 |
0.63 |
|
WDR48 |
57599 |
Q8TAF3 |
0.68 |
|
ATM |
472 |
Q13315 |
0.72 |
|
CLN3 |
1201 |
Q13286 |
0.72 |
|
PRKAB2 |
5565 |
O43741 |
0.72 |
|
TNFRSF1A |
7132 |
P19438 |
0.72 |
|
TNFRSF1B |
7133 |
P20333 |
0.72 |
|
CAMKK2 |
10645 |
Q96RR4 |
0.72 |
|
PELO |
53918 |
Q9BRX2 |
0.72 |
|
SUMO2 |
6613 |
P61956 |
0.74 |
|
FSCN1 |
6624 |
Q16658 |
0.75 |
|
MYC |
4609 |
P01106 |
0.76 |
|
MAGED1 |
9500 |
Q9Y5V3 |
0.76 |
|
NEK6 |
10783 |
Q9HC98 |
0.76 |
|
PTP4A3 |
11156 |
O75365 |
0.76 |
|
BRF2 |
55290 |
Q9HAW0 |
0.76 |
|
C20orf24 |
55969 |
Q9BUV8 |
0.76 |
|
USP36 |
57602 |
Q9P275 |
0.76 |
|
GSTK1 |
373156 |
Q9Y2Q3 |
0.76 |
|
ILK |
3611 |
Q13418 |
0.88 |