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Q9NVI1

- FANCI_HUMAN

UniProt

Q9NVI1 - FANCI_HUMAN

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Protein

Fanconi anemia group I protein

Gene

FANCI

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Plays an essential role in the repair of DNA double-strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair sites. Required for maintenance of chromosomal stability. Specifically binds branched DNA: binds both single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA). Participates in S phase and G2 phase checkpoint activation upon DNA damage.4 Publications

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
  2. DNA polymerase binding Source: UniProt

GO - Biological processi

  1. cell cycle Source: UniProtKB-KW
  2. DNA repair Source: Reactome
  3. positive regulation of protein ubiquitination Source: MGI
Complete GO annotation...

Keywords - Biological processi

Cell cycle, DNA damage, DNA repair

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_18265. Regulation of the Fanconi anemia pathway.
REACT_18410. Fanconi Anemia pathway.

Names & Taxonomyi

Protein namesi
Recommended name:
Fanconi anemia group I protein
Short name:
Protein FACI
Gene namesi
Name:FANCI
Synonyms:KIAA1794
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:25568. FANCI.

Subcellular locationi

Nucleus 3 Publications
Note: Observed in spots localized in pairs on the sister chromatids of mitotic chromosome arms and not centromeres, one on each chromatids. These foci coincide with common fragile sites. They are frequently interlinked through BLM-associated ultra-fine DNA bridges.

GO - Cellular componenti

  1. membrane Source: UniProtKB
  2. nucleoplasm Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Fanconi anemia complementation group I (FANCI) [MIM:609053]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1285 – 12851R → Q in FA/FANCI; abolishes function in DNA repair. 2 Publications
VAR_032692

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi523 – 5231K → R: Abolishes monoubiquitination by FANCL and UBE2T. 1 Publication

Keywords - Diseasei

Disease mutation, Fanconi anemia

Organism-specific databases

MIMi227650. phenotype.
609053. phenotype.
Orphaneti84. Fanconi anemia.
PharmGKBiPA162387928.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 13281328Fanconi anemia group I proteinPRO_0000248376Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei407 – 4071Phosphoserine2 Publications
Cross-linki523 – 523Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)3 Publications
Modified residuei556 – 5561PhosphoserineBy similarity
Modified residuei730 – 7301Phosphoserine1 Publication
Modified residuei952 – 9521Phosphothreonine1 Publication
Modified residuei1121 – 11211Phosphoserine1 Publication

Post-translational modificationi

Monoubiquitinated by FANCL on Lys-523 during S phase and upon genotoxic stress. Deubiquitinated by USP1 as cells enter G2/M, or once DNA repair is completed. Monoubiquitination requires the FANCA-FANCB-FANCC-FANCE-FANCF-FANCG-FANCM complex. Ubiquitination is required for binding to chromatin, DNA repair, and normal cell cycle progression. Monoubiquitination is stimulated by DNA-binding.3 Publications
Phosphorylated in response to DNA damage by ATM and/or ATR.3 Publications

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiQ9NVI1.
PaxDbiQ9NVI1.
PRIDEiQ9NVI1.

PTM databases

PhosphoSiteiQ9NVI1.

Expressioni

Gene expression databases

BgeeiQ9NVI1.
CleanExiHS_FANCI.
ExpressionAtlasiQ9NVI1. baseline and differential.
GenevestigatoriQ9NVI1.

Organism-specific databases

HPAiHPA039972.

Interactioni

Subunit structurei

Interacts with FANCD2; the interaction is direct. Interacts with FANCL. Interacts with MTMR15/FAN1.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
FANCD2Q9BXW92EBI-1013291,EBI-359343

Protein-protein interaction databases

BioGridi120511. 32 interactions.
DIPiDIP-29381N.
IntActiQ9NVI1. 11 interactions.
MINTiMINT-1138578.
STRINGi9606.ENSP00000310842.

Structurei

3D structure databases

ProteinModelPortaliQ9NVI1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domaini

The C-terminal 30 residues are probably required for function in DNA repair.

Phylogenomic databases

eggNOGiNOG324185.
GeneTreeiENSGT00390000005855.
HOVERGENiHBG106622.
InParanoidiQ9NVI1.
KOiK10895.
OMAiSQEEDFN.
PhylomeDBiQ9NVI1.
TreeFamiTF323694.

Family and domain databases

InterProiIPR026171. FANCI.
IPR029310. FANCI_HD1.
IPR029312. FANCI_HD2.
IPR029308. FANCI_S1.
IPR029305. FANCI_S1-cap.
IPR029315. FANCI_S2.
IPR029313. FANCI_S3.
IPR029314. FANCI_S4.
[Graphical view]
PANTHERiPTHR21818:SF0. PTHR21818:SF0. 1 hit.
PfamiPF14679. FANCI_HD1. 1 hit.
PF14680. FANCI_HD2. 1 hit.
PF14675. FANCI_S1. 1 hit.
PF14674. FANCI_S1-cap. 1 hit.
PF14676. FANCI_S2. 1 hit.
PF14677. FANCI_S3. 1 hit.
PF14678. FANCI_S4. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 3 (identifier: Q9NVI1-3) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDQKILSLAA EKTADKLQEF LQTLREGDLT NLLQNQAVKG KVAGALLRAI
60 70 80 90 100
FKGSPCSEEA GTLRRRKIYT CCIQLVESGD LQKEIASEII GLLMLEAHHF
110 120 130 140 150
PGPLLVELAN EFISAVREGS LVNGKSLELL PIILTALATK KENLAYGKGV
160 170 180 190 200
LSGEECKKQL INTLCSGRWD QQYVIQLTSM FKDVPLTAEE VEFVVEKALS
210 220 230 240 250
MFSKMNLQEI PPLVYQLLVL SSKGSRKSVL EGIIAFFSAL DKQHNEEQSG
260 270 280 290 300
DELLDVVTVP SGELRHVEGT IILHIVFAIK LDYELGRELV KHLKVGQQGD
310 320 330 340 350
SNNNLSPFSI ALLLSVTRIQ RFQDQVLDLL KTSVVKSFKD LQLLQGSKFL
360 370 380 390 400
QNLVPHRSYV STMILEVVKN SVHSWDHVTQ GLVELGFILM DSYGPKKVLD
410 420 430 440 450
GKTIETSPSL SRMPNQHACK LGANILLETF KIHEMIRQEI LEQVLNRVVT
460 470 480 490 500
RASSPISHFL DLLSNIVMYA PLVLQSCSSK VTEAFDYLSF LPLQTVQRLL
510 520 530 540 550
KAVQPLLKVS MSMRDCLILV LRKAMFANQL DARKSAVAGF LLLLKNFKVL
560 570 580 590 600
GSLSSSQCSQ SLSVSQVHVD VHSHYNSVAN ETFCLEIMDS LRRCLSQQAD
610 620 630 640 650
VRLMLYEGFY DVLRRNSQLA NSVMQTLLSQ LKQFYEPKPD LLPPLKLEAC
660 670 680 690 700
ILTQGDKISL QEPLDYLLCC IQHCLAWYKN TVIPLQQGEE EEEEEEAFYE
710 720 730 740 750
DLDDILESIT NRMIKSELED FELDKSADFS QSTSIGIKNN ICAFLVMGVC
760 770 780 790 800
EVLIEYNFSI SSFSKNRFED ILSLFMCYKK LSDILNEKAG KAKTKMANKT
810 820 830 840 850
SDSLLSMKFV SSLLTALFRD SIQSHQESLS VLRSSNEFMR YAVNVALQKV
860 870 880 890 900
QQLKETGHVS GPDGQNPEKI FQNLCDITRV LLWRYTSIPT SVEESGKKEK
910 920 930 940 950
GKSISLLCLE GLQKIFSAVQ QFYQPKIQQF LRALDVTDKE GEEREDADVS
960 970 980 990 1000
VTQRTAFQIR QFQRSLLNLL SSQEEDFNSK EALLLVTVLT SLSKLLEPSS
1010 1020 1030 1040 1050
PQFVQMLSWT SKICKENSRE DALFCKSLMN LLFSLHVSYK SPVILLRDLS
1060 1070 1080 1090 1100
QDIHGHLGDI DQDVEVEKTN HFAIVNLRTA APTVCLLVLS QAEKVLEEVD
1110 1120 1130 1140 1150
WLITKLKGQV SQETLSEEAS SQATLPNQPV EKAIIMQLGT LLTFFHELVQ
1160 1170 1180 1190 1200
TALPSGSCVD TLLKDLCKMY TTLTALVRYY LQVCQSSGGI PKNMEKLVKL
1210 1220 1230 1240 1250
SGSHLTPLCY SFISYVQNKS KSLNYTGEKK EKPAAVATAM ARVLRETKPI
1260 1270 1280 1290 1300
PNLIFAIEQY EKFLIHLSKK SKVNLMQHMK LSTSRDFKIK GNILDMVLRE
1310 1320
DGEDENEEGT ASEHGGQNKE PAKKKRKK
Length:1,328
Mass (Da):149,324
Last modified:November 4, 2008 - v4
Checksum:i07E80FD2F0BCCB32
GO
Isoform 2 (identifier: Q9NVI1-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     819-878: Missing.
     1117-1117: Missing.

Show »
Length:1,267
Mass (Da):142,440
Checksum:iAD13BB6692A0D812
GO
Isoform 1 (identifier: Q9NVI1-1) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     819-878: Missing.

Show »
Length:1,268
Mass (Da):142,569
Checksum:i7D3A1A04E97FE80C
GO
Isoform 4 (identifier: Q9NVI1-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     253-1328: Missing.

Show »
Length:252
Mass (Da):27,824
Checksum:i8C0E5CC711546A8B
GO

Sequence cautioni

The sequence AAH04277.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA91770.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB55200.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti528 – 5281N → S in BAB47423. (PubMed:11347906)Curated
Sequence conflicti604 – 6041M → T in BAA91770. (PubMed:14702039)Curated
Sequence conflicti877 – 8771I → L in BAB47423. (PubMed:11347906)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti55 – 551P → L in FA; unknown pathological significance; no effect on ubiquitination and DNA repair. 2 Publications
Corresponds to variant rs62020347 [ dbSNP | Ensembl ].
VAR_032689
Natural varianti86 – 861A → V.1 Publication
Corresponds to variant rs17803620 [ dbSNP | Ensembl ].
VAR_032690
Natural varianti686 – 6861Q → K.
Corresponds to variant rs28378332 [ dbSNP | Ensembl ].
VAR_027278
Natural varianti742 – 7421C → S.2 Publications
Corresponds to variant rs2283432 [ dbSNP | Ensembl ].
VAR_027279
Natural varianti858 – 8581H → Y in FA. 1 Publication
VAR_032691
Natural varianti1285 – 12851R → Q in FA/FANCI; abolishes function in DNA repair. 2 Publications
VAR_032692

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei253 – 13281076Missing in isoform 4. 1 PublicationVSP_035606Add
BLAST
Alternative sequencei819 – 87860Missing in isoform 1 and isoform 2. 1 PublicationVSP_026069Add
BLAST
Alternative sequencei1117 – 11171Missing in isoform 2. 1 PublicationVSP_020257

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EF469766 mRNA. Translation: ABP88002.1.
EF567077 mRNA. Translation: ABQ63084.1.
AC124068 Genomic DNA. No translation available.
BC004277 mRNA. Translation: AAH04277.1. Different initiation.
BC140769 mRNA. Translation: AAI40770.1.
AK001581 mRNA. Translation: BAA91770.1. Different initiation.
AK027564 mRNA. Translation: BAB55200.1. Different initiation.
AB058697 mRNA. Translation: BAB47423.1.
CCDSiCCDS10349.2. [Q9NVI1-1]
CCDS45346.1. [Q9NVI1-3]
RefSeqiNP_001106849.1. NM_001113378.1. [Q9NVI1-3]
NP_060663.2. NM_018193.2. [Q9NVI1-1]
UniGeneiHs.513126.

Genome annotation databases

EnsembliENST00000300027; ENSP00000300027; ENSG00000140525. [Q9NVI1-1]
ENST00000310775; ENSP00000310842; ENSG00000140525. [Q9NVI1-3]
ENST00000567996; ENSP00000458024; ENSG00000140525. [Q9NVI1-4]
GeneIDi55215.
KEGGihsa:55215.
UCSCiuc002bnm.1. human. [Q9NVI1-1]
uc002bno.3. human. [Q9NVI1-4]
uc002bnp.1. human. [Q9NVI1-2]
uc002bnq.1. human. [Q9NVI1-3]

Polymorphism databases

DMDMi212276518.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Fanconi Anemia Mutation Database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EF469766 mRNA. Translation: ABP88002.1 .
EF567077 mRNA. Translation: ABQ63084.1 .
AC124068 Genomic DNA. No translation available.
BC004277 mRNA. Translation: AAH04277.1 . Different initiation.
BC140769 mRNA. Translation: AAI40770.1 .
AK001581 mRNA. Translation: BAA91770.1 . Different initiation.
AK027564 mRNA. Translation: BAB55200.1 . Different initiation.
AB058697 mRNA. Translation: BAB47423.1 .
CCDSi CCDS10349.2. [Q9NVI1-1 ]
CCDS45346.1. [Q9NVI1-3 ]
RefSeqi NP_001106849.1. NM_001113378.1. [Q9NVI1-3 ]
NP_060663.2. NM_018193.2. [Q9NVI1-1 ]
UniGenei Hs.513126.

3D structure databases

ProteinModelPortali Q9NVI1.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120511. 32 interactions.
DIPi DIP-29381N.
IntActi Q9NVI1. 11 interactions.
MINTi MINT-1138578.
STRINGi 9606.ENSP00000310842.

PTM databases

PhosphoSitei Q9NVI1.

Polymorphism databases

DMDMi 212276518.

Proteomic databases

MaxQBi Q9NVI1.
PaxDbi Q9NVI1.
PRIDEi Q9NVI1.

Protocols and materials databases

DNASUi 55215.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000300027 ; ENSP00000300027 ; ENSG00000140525 . [Q9NVI1-1 ]
ENST00000310775 ; ENSP00000310842 ; ENSG00000140525 . [Q9NVI1-3 ]
ENST00000567996 ; ENSP00000458024 ; ENSG00000140525 . [Q9NVI1-4 ]
GeneIDi 55215.
KEGGi hsa:55215.
UCSCi uc002bnm.1. human. [Q9NVI1-1 ]
uc002bno.3. human. [Q9NVI1-4 ]
uc002bnp.1. human. [Q9NVI1-2 ]
uc002bnq.1. human. [Q9NVI1-3 ]

Organism-specific databases

CTDi 55215.
GeneCardsi GC15P089787.
GeneReviewsi FANCI.
H-InvDB HIX0012562.
HGNCi HGNC:25568. FANCI.
HPAi HPA039972.
MIMi 227650. phenotype.
609053. phenotype.
611360. gene.
neXtProti NX_Q9NVI1.
Orphaneti 84. Fanconi anemia.
PharmGKBi PA162387928.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG324185.
GeneTreei ENSGT00390000005855.
HOVERGENi HBG106622.
InParanoidi Q9NVI1.
KOi K10895.
OMAi SQEEDFN.
PhylomeDBi Q9NVI1.
TreeFami TF323694.

Enzyme and pathway databases

Reactomei REACT_18265. Regulation of the Fanconi anemia pathway.
REACT_18410. Fanconi Anemia pathway.

Miscellaneous databases

GeneWikii FANCI.
GenomeRNAii 55215.
NextBioi 59172.
PROi Q9NVI1.
SOURCEi Search...

Gene expression databases

Bgeei Q9NVI1.
CleanExi HS_FANCI.
ExpressionAtlasi Q9NVI1. baseline and differential.
Genevestigatori Q9NVI1.

Family and domain databases

InterProi IPR026171. FANCI.
IPR029310. FANCI_HD1.
IPR029312. FANCI_HD2.
IPR029308. FANCI_S1.
IPR029305. FANCI_S1-cap.
IPR029315. FANCI_S2.
IPR029313. FANCI_S3.
IPR029314. FANCI_S4.
[Graphical view ]
PANTHERi PTHR21818:SF0. PTHR21818:SF0. 1 hit.
Pfami PF14679. FANCI_HD1. 1 hit.
PF14680. FANCI_HD2. 1 hit.
PF14675. FANCI_S1. 1 hit.
PF14674. FANCI_S1-cap. 1 hit.
PF14676. FANCI_S2. 1 hit.
PF14677. FANCI_S3. 1 hit.
PF14678. FANCI_S4. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair."
    Smogorzewska A., Matsuoka S., Vinciguerra P., McDonald E.R. III, Hurov K.E., Luo J., Ballif B.A., Gygi S.P., Hofmann K., D'Andrea A.D., Elledge S.J.
    Cell 129:289-301(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), FUNCTION, UBIQUITINATION AT LYS-523, PHOSPHORYLATION AT SER-730; THR-952 AND SER-1121, SUBCELLULAR LOCATION, INTERACTION WITH FANCD2, VARIANTS FA LEU-55 AND GLN-1285, CHARACTERIZATION OF VARIANTS FA LEU-55 AND GLN-1285.
  2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), FUNCTION, UBIQUITINATION AT LYS-523, SUBCELLULAR LOCATION, INTERACTION WITH FANCD2, VARIANT FA TYR-858.
  3. "Analysis of the DNA sequence and duplication history of human chromosome 15."
    Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
    , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
    Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4), VARIANT VAL-86.
    Tissue: Brain and Skin.
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 175-1324 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 342-1328 (ISOFORM 1), VARIANT SER-742.
    Tissue: Teratocarcinoma.
  6. "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
    DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 527-1328 (ISOFORM 3), VARIANT SER-742.
    Tissue: Brain.
  7. Bienvenut W.V.
    Submitted (JUN-2005) to UniProtKB
    Cited for: PROTEIN SEQUENCE OF 438-447; 781-788; 809-819; 885-897; 965-994 AND 1079-1094, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: B-cell lymphoma.
  8. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
    Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
    Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-407, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. "Identification of the Fanconi anemia complementation group I gene, FANCI."
    Dorsman J.C., Levitus M., Rockx D., Rooimans M.A., Oostra A.B., Haitjema A., Bakker S.T., Steltenpool J., Schuler D., Mohan S., Schindler D., Arwert F., Pals G., Mathew C.G., Waisfisz Q., de Winter J.P., Joenje H.
    Cell. Oncol. 29:211-218(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, VARIANT FANCI GLN-1285, VARIANT LEU-55.
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Embryonic kidney.
  11. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  12. "Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI."
    Alpi A.F., Pace P.E., Babu M.M., Patel K.J.
    Mol. Cell 32:767-777(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  13. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-407, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  14. "FANCI binds branched DNA and is monoubiquitinated by UBE2T-FANCL."
    Longerich S., San Filippo J., Liu D., Sung P.
    J. Biol. Chem. 284:23182-23186(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: DNA-BINDING, UBIQUITINATION AT LYS-523, MUTAGENESIS OF LYS-523.
  15. "Replication stress induces sister-chromatid bridging at fragile site loci in mitosis."
    Chan K.L., Palmai-Pallag T., Ying S., Hickson I.D.
    Nat. Cell Biol. 11:753-760(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  16. "Identification of KIAA1018/FAN1, a DNA repair nuclease recruited to DNA damage by monoubiquitinated FANCD2."
    MacKay C., Declais A.C., Lundin C., Agostinho A., Deans A.J., MacArtney T.J., Hofmann K., Gartner A., West S.C., Helleday T., Lilley D.M., Rouse J.
    Cell 142:65-76(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH MTMR15.
  17. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  18. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  19. "Structural analysis of human FANCL, the E3 ligase in the Fanconi anemia pathway."
    Hodson C., Cole A.R., Lewis L.P., Miles J.A., Purkiss A., Walden H.
    J. Biol. Chem. 286:32628-32637(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH FANCL.

Entry informationi

Entry nameiFANCI_HUMAN
AccessioniPrimary (citable) accession number: Q9NVI1
Secondary accession number(s): A4ZVE4
, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: November 4, 2008
Last modified: October 29, 2014
This is version 107 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

External Data

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