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Q9NVI1 (FANCI_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 104. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Fanconi anemia group I protein

Short name=Protein FACI
Gene names
Name:FANCI
Synonyms:KIAA1794
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1328 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.1 Ref.2 Ref.9 Ref.12

Subunit structure

Interacts with FANCD2; the interaction is direct. Interacts with FANCL. Interacts with MTMR15/FAN1. Ref.1 Ref.2 Ref.16 Ref.19

Subcellular location

Nucleus. 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. Ref.1 Ref.2 Ref.15

Domain

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

Post-translational modification

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.

Phosphorylated in response to DNA damage by ATM and/or ATR. Ref.1

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Sequence caution

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

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

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

Binary interactions

With

Entry

#Exp.

IntAct

Notes

FANCD2Q9BXW92EBI-1013291,EBI-359343

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 residue4071Phosphoserine Ref.8 Ref.13
Modified residue5561Phosphoserine By similarity
Modified residue7301Phosphoserine Ref.1
Modified residue9521Phosphothreonine Ref.1
Modified residue11211Phosphoserine Ref.1
Cross-link523Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) Ref.1 Ref.2 Ref.14

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; unknown pathological significance; no effect on ubiquitination and DNA repair. Ref.1 Ref.9
Corresponds to variant rs62020347 [ dbSNP | Ensembl ].
VAR_032689
Natural variant861A → V. Ref.4
Corresponds to variant rs17803620 [ dbSNP | Ensembl ].
VAR_032690
Natural variant6861Q → K.
Corresponds to variant rs28378332 [ dbSNP | Ensembl ].
VAR_027278
Natural variant7421C → S. Ref.5 Ref.6
Corresponds to variant rs2283432 [ dbSNP | Ensembl ].
VAR_027279
Natural variant8581H → Y in FA. Ref.2
VAR_032691
Natural variant12851R → Q in FA/FANCI; abolishes function in DNA repair. Ref.1 Ref.9
VAR_032692

Experimental info

Mutagenesis5231K → R: Abolishes monoubiquitination by FANCL and UBE2T. Ref.14
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 [UniParc].

Checksum: AD13BB6692A0D812
Show »

FASTA1,267142,440
Isoform 1 [UniParc].

Checksum: 7D3A1A04E97FE80C
Show »

FASTA1,268142,569
Isoform 4 [UniParc].

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] [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]"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] [Europe PMC] [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] [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. 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] [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]"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] [Europe PMC] [Abstract]
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]"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] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS10349.2. [Q9NVI1-1]
CCDS45346.1. [Q9NVI1-3]
RefSeqNP_001106849.1. NM_001113378.1. [Q9NVI1-3]
NP_060663.2. NM_018193.2. [Q9NVI1-1]
UniGeneHs.513126.

3D structure databases

ProteinModelPortalQ9NVI1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120511. 30 interactions.
DIPDIP-29381N.
IntActQ9NVI1. 10 interactions.
MINTMINT-1138578.
STRING9606.ENSP00000310842.

PTM databases

PhosphoSiteQ9NVI1.

Polymorphism databases

DMDM212276518.

Proteomic databases

MaxQBQ9NVI1.
PaxDbQ9NVI1.
PRIDEQ9NVI1.

Protocols and materials databases

DNASU55215.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000300027; ENSP00000300027; ENSG00000140525. [Q9NVI1-1]
ENST00000310775; ENSP00000310842; ENSG00000140525. [Q9NVI1-3]
ENST00000451393; ENSP00000390764; ENSG00000140525.
ENST00000567996; ENSP00000458024; ENSG00000140525. [Q9NVI1-4]
GeneID55215.
KEGGhsa:55215.
UCSCuc002bnm.1. human. [Q9NVI1-1]
uc002bno.3. human. [Q9NVI1-4]
uc002bnp.1. human. [Q9NVI1-2]
uc002bnq.1. human. [Q9NVI1-3]

Organism-specific databases

CTD55215.
GeneCardsGC15P089787.
GeneReviewsFANCI.
H-InvDBHIX0012562.
HGNCHGNC:25568. FANCI.
HPAHPA039972.
MIM227650. phenotype.
609053. phenotype.
611360. gene.
neXtProtNX_Q9NVI1.
Orphanet84. Fanconi anemia.
PharmGKBPA162387928.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG324185.
HOVERGENHBG106622.
InParanoidQ9NVI1.
KOK10895.
OMASQEEDFN.
PhylomeDBQ9NVI1.
TreeFamTF323694.

Enzyme and pathway databases

ReactomeREACT_216. DNA Repair.

Gene expression databases

ArrayExpressQ9NVI1.
BgeeQ9NVI1.
CleanExHS_FANCI.
GenevestigatorQ9NVI1.

Family and domain databases

InterProIPR026171. 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]
PANTHERPTHR21818:SF0. PTHR21818:SF0. 1 hit.
PfamPF14679. 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]
ProtoNetSearch...

Other

GeneWikiFANCI.
GenomeRNAi55215.
NextBio59172.
PROQ9NVI1.
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 9, 2014
This is version 104 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

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