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Reviewed, UniProtKB/Swiss-Prot Q9NVI1 (FANCI_HUMAN)

Last modified July 7, 2009. Version 55. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Fanconi anemia group I protein
      Short name=Protein FANCI
Gene names
Name: FANCI
Synonyms: KIAA1794
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1328 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

Required for maintenance of chromosomal stability. Involved in the repair of DNA double-strand breaks by homologous recombination and in the repair of DNA cross-links. Participates in S phase and G2 phase checkpoint activation upon DNA damage. Promotes FANCD2 ubiquitination and recruitment to DNA repair sites. Ref.1 Ref.2 Ref.10

Subunit structure

Interacts directly with FANCD2. Ref.1 Ref.2

Subcellular location

Nucleus. Note: Concentrates in nuclear foci upon genotoxic stress. Ref.1 Ref.2

Domain

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

Post-translational modification

Monoubiquitinated 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.

Phosphorylated in response to DNA damage by ATM and/or ATR. Ref.1 Ref.8 Ref.9 Ref.11 Ref.12 Ref.13

Involvement in disease

Defects in FANCI are a cause of Fanconi anemia complementation group I (FANCI) [MIM:609053, 227650]. Fanconi anemia (FA) is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, a diverse assortment of congenital malformations, 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. Ref.10

Ontologies

Keywords
   Biological processCell cycle
DNA damage
DNA repair
   Cellular componentChromosomal protein
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Fanconi anemia
   PTMIsopeptide bond
Phosphoprotein
Ubl conjugation
   Technical termComplete proteome
Direct protein sequencing
Gene Ontology (GO)
   Biological processDNA repair

Inferred from electronic annotation. Source: UniProtKB-KW

cell cycle

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular componentchromosome

Inferred from electronic annotation. Source: UniProtKB-KW

nucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular functionprotein binding Ref.2

Inferred from physical interaction. Source: IntAct

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 3 (identifier: Q9NVI1-3)

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.
Isoform 2 (identifier: Q9NVI1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     819-878: Missing.
     1117-1117: Missing.
Isoform 1 (identifier: Q9NVI1-1)

The sequence of this isoform differs from the canonical sequence as follows:
     819-878: Missing.
Isoform 4 (identifier: Q9NVI1-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 13281328Fanconi anemia group I protein
PRO_0000248376

Amino acid modifications

Modified residue2151Phosphotyrosine Ref.8
Modified residue4071Phosphoserine Ref.9 Ref.12 Ref.13
Modified residue5561Phosphoserine By similarity
Modified residue7301Phosphoserine Ref.1 Ref.11
Modified residue9521Phosphothreonine Ref.1 Ref.11
Modified residue11211Phosphoserine Ref.1 Ref.11
Cross-link523Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) Ref.1 Ref.2

Natural variations

Alternative sequence253 – 13281076Missing in isoform 4.
VSP_035606
Alternative sequence819 – 87860Missing in isoform 1 and isoform 2.
VSP_026069
Alternative sequence11171Missing in isoform 2.
VSP_020257
Natural variant551P → L in FA; could be a polymorphism; no effect on ubiquitination and DNA repair. Ref.1
VAR_032689
Natural variant861A → V: dbSNP rs17803620. Ref.4
VAR_032690
Natural variant6861Q → K: dbSNP rs28378332.
VAR_027278
Natural variant7421C → S: dbSNP rs2283432. Ref.5 Ref.6
VAR_027279
Natural variant8581H → Y in FA. Ref.2
VAR_032691
Natural variant12851R → Q in FA/FANCI; abolishes function in DNA repair.
VAR_032692

Experimental info

Sequence conflict5281N → S in BAB47423. Ref.6
Sequence conflict6041M → T in BAA91770. Ref.5
Sequence conflict8771I → L in BAB47423. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Isoform 3 [UniParc].

Last modified November 4, 2008. Version 4.
Checksum: 07E80FD2F0BCCB32

FASTA1,328149,324
        10         20         30         40         50         60 
MDQKILSLAA EKTADKLQEF LQTLREGDLT NLLQNQAVKG KVAGALLRAI FKGSPCSEEA 

        70         80         90        100        110        120 
GTLRRRKIYT CCIQLVESGD LQKEIASEII GLLMLEAHHF PGPLLVELAN EFISAVREGS 

       130        140        150        160        170        180 
LVNGKSLELL PIILTALATK KENLAYGKGV LSGEECKKQL INTLCSGRWD QQYVIQLTSM 

       190        200        210        220        230        240 
FKDVPLTAEE VEFVVEKALS MFSKMNLQEI PPLVYQLLVL SSKGSRKSVL EGIIAFFSAL 

       250        260        270        280        290        300 
DKQHNEEQSG DELLDVVTVP SGELRHVEGT IILHIVFAIK LDYELGRELV KHLKVGQQGD 

       310        320        330        340        350        360 
SNNNLSPFSI ALLLSVTRIQ RFQDQVLDLL KTSVVKSFKD LQLLQGSKFL QNLVPHRSYV 

       370        380        390        400        410        420 
STMILEVVKN SVHSWDHVTQ GLVELGFILM DSYGPKKVLD GKTIETSPSL SRMPNQHACK 

       430        440        450        460        470        480 
LGANILLETF KIHEMIRQEI LEQVLNRVVT RASSPISHFL DLLSNIVMYA PLVLQSCSSK 

       490        500        510        520        530        540 
VTEAFDYLSF LPLQTVQRLL KAVQPLLKVS MSMRDCLILV LRKAMFANQL DARKSAVAGF 

       550        560        570        580        590        600 
LLLLKNFKVL GSLSSSQCSQ SLSVSQVHVD VHSHYNSVAN ETFCLEIMDS LRRCLSQQAD 

       610        620        630        640        650        660 
VRLMLYEGFY DVLRRNSQLA NSVMQTLLSQ LKQFYEPKPD LLPPLKLEAC ILTQGDKISL 

       670        680        690        700        710        720 
QEPLDYLLCC IQHCLAWYKN TVIPLQQGEE EEEEEEAFYE DLDDILESIT NRMIKSELED 

       730        740        750        760        770        780 
FELDKSADFS QSTSIGIKNN ICAFLVMGVC EVLIEYNFSI SSFSKNRFED ILSLFMCYKK 

       790        800        810        820        830        840 
LSDILNEKAG KAKTKMANKT SDSLLSMKFV SSLLTALFRD SIQSHQESLS VLRSSNEFMR 

       850        860        870        880        890        900 
YAVNVALQKV QQLKETGHVS GPDGQNPEKI FQNLCDITRV LLWRYTSIPT SVEESGKKEK 

       910        920        930        940        950        960 
GKSISLLCLE GLQKIFSAVQ QFYQPKIQQF LRALDVTDKE GEEREDADVS VTQRTAFQIR 

       970        980        990       1000       1010       1020 
QFQRSLLNLL SSQEEDFNSK EALLLVTVLT SLSKLLEPSS PQFVQMLSWT SKICKENSRE 

      1030       1040       1050       1060       1070       1080 
DALFCKSLMN LLFSLHVSYK SPVILLRDLS QDIHGHLGDI DQDVEVEKTN HFAIVNLRTA 

      1090       1100       1110       1120       1130       1140 
APTVCLLVLS QAEKVLEEVD WLITKLKGQV SQETLSEEAS SQATLPNQPV EKAIIMQLGT 

      1150       1160       1170       1180       1190       1200 
LLTFFHELVQ TALPSGSCVD TLLKDLCKMY TTLTALVRYY LQVCQSSGGI PKNMEKLVKL 

      1210       1220       1230       1240       1250       1260 
SGSHLTPLCY SFISYVQNKS KSLNYTGEKK EKPAAVATAM ARVLRETKPI PNLIFAIEQY 

      1270       1280       1290       1300       1310       1320 
EKFLIHLSKK SKVNLMQHMK LSTSRDFKIK GNILDMVLRE DGEDENEEGT ASEHGGQNKE 


PAKKKRKK 

« Hide

Isoform 2.

Checksum: AD13BB6692A0D812
Show »

FASTA1,267142,440
Isoform 1.

Checksum: 7D3A1A04E97FE80C
Show »

FASTA1,268142,569
Isoform 4.

Checksum: 8C0E5CC711546A8B
Show »

FASTA25227,824

References

« Hide 'large scale' references
[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: 17412408] [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]"FANCI is a second monoubiquitinated member of the Fanconi anemia pathway."
Sims A.E., Spiteri E., Sims R.J. III, Arita A.G., Lach F.P., Landers T., Wurm M., Freund M., Neveling K., Hanenberg H., Auerbach A.D., Huang T.T.
Nat. Struct. Mol. Biol. 14:564-567(2007) [PubMed: 17460694] [Abstract]
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. expand/collapse author list , 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: 16572171] [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: 15489334] [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. expand/collapse author list , 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: 14702039] [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: 11347906] [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, MASS SPECTROMETRY.
Tissue: B-cell lymphoma.
[8]"Tyrosine phosphorylated Par3 regulates epithelial tight junction assembly promoted by EGFR signaling."
Wang Y., Du D., Fang L., Yang G., Zhang C., Zeng R., Ullrich A., Lottspeich F., Chen Z.
EMBO J. 25:5058-5070(2006) [PubMed: 17053785] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-215, MASS SPECTROMETRY.
[9]"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: 16964243] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-407, MASS SPECTROMETRY.
Tissue: Epithelium.
[10]"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: 17452773] [Abstract]
Cited for: FUNCTION, VARIANT FANCI GLN-1285, VARIANT LEU-55.
[11]"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."
Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.
Science 316:1160-1166(2007) [PubMed: 17525332] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-730; THR-952 AND SER-1121, MASS SPECTROMETRY.
[12]"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: 18691976] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-407, MASS SPECTROMETRY.
[13]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-407, MASS SPECTROMETRY.
[14]Colinge J., Superti-Furga G., Bennett K.L.
Submitted (OCT-2008) to UniProtKB
Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
+Additional computationally mapped references.

Cross-references

Sequence databases

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.
IPIIPI00019447.
IPI00306518.
IPI00784704.
IPI00884225.
RefSeqNP_001106849.1.
UniGeneHs.513126
Hs.706868

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

IntActQ9NVI1. 12 interactions.

PTM databases

PhosphoSiteQ9NVI1.

Genome annotation databases

EnsemblENSG00000140525. Homo sapiens. [Contig view]
GeneID55215.
KEGGhsa:55215.
UCSCuc002bnm.1. human.
uc002bnp.1. human.

Organism-specific databases

GeneCardsGC15P087588.
HGNCHGNC:25568. FANCI.
MIM227650. phenotype.
609053. phenotype.
611360. gene.
Orphanet84. Fanconi anemia.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

HOGENOMQ9NVI1.
HOVERGENQ9NVI1.
OMAQ9NVI1. RETKPIP.

Gene expression databases

ArrayExpressQ9NVI1.
BgeeQ9NVI1.
CleanExHS_FANCI.
GermOnlineENSG00000140525. Homo sapiens.

Family and domain databases

ProtoNetSearch...

Other Resources

NextBio59172.
SOURCESearch...

Entry information

Entry nameFANCI_HUMAN
AccessionPrimary (citable) accession number: Q9NVI1
Secondary accession number(s): A4ZVE4 expand/collapse secondary AC list , A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96
Entry history
Integrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: November 4, 2008
Last modified: July 7, 2009
This is version 55 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents