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Protein

Fanconi anemia group I protein

Gene

FANCI

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • DNA binding Source: UniProtKB-KW
  • DNA polymerase binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processCell cycle, DNA damage, DNA repair

Enzyme and pathway databases

ReactomeiR-HSA-6783310 Fanconi Anemia Pathway
R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes
SIGNORiQ9NVI1

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
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000140525.17
HGNCiHGNC:25568 FANCI
MIMi611360 gene
neXtProtiNX_Q9NVI1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Fanconi anemia complementation group I (FANCI)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:609053
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03268955P → L in FANCI; unknown pathological significance; no effect on ubiquitination and DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs62020347EnsemblClinVar.1
Natural variantiVAR_032691858H → Y in FANCI. 1 Publication1
Natural variantiVAR_0326921285R → Q in FANCI; abolishes function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs121918163EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi523K → R: Abolishes monoubiquitination by FANCL and UBE2T. 1 Publication1

Keywords - Diseasei

Disease mutation, Fanconi anemia

Organism-specific databases

DisGeNETi55215
GeneReviewsiFANCI
MalaCardsiFANCI
MIMi609053 phenotype
OpenTargetsiENSG00000140525
Orphaneti84 Fanconi anemia
PharmGKBiPA162387928

Polymorphism and mutation databases

BioMutaiFANCI
DMDMi212276518

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002483761 – 1328Fanconi anemia group I proteinAdd BLAST1328

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei407PhosphoserineCombined sources1
Cross-linki523Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)3 Publications
Modified residuei556PhosphoserineBy similarity1
Modified residuei730Phosphoserine1 Publication1
Modified residuei952Phosphothreonine1 Publication1
Modified residuei1121Phosphoserine1 Publication1

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.1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9NVI1
PaxDbiQ9NVI1
PeptideAtlasiQ9NVI1
PRIDEiQ9NVI1
ProteomicsDBi82811
82812 [Q9NVI1-1]
82813 [Q9NVI1-2]
82814 [Q9NVI1-4]

PTM databases

iPTMnetiQ9NVI1
PhosphoSitePlusiQ9NVI1

Expressioni

Gene expression databases

BgeeiENSG00000140525
CleanExiHS_FANCI
ExpressionAtlasiQ9NVI1 baseline and differential
GenevisibleiQ9NVI1 HS

Organism-specific databases

HPAiHPA039972
HPA040379

Interactioni

Subunit structurei

Interacts with FANCD2; the interaction is direct. Interacts with FANCL. Interacts with MTMR15/FAN1 (PubMed:17412408, PubMed:17460694, PubMed:20603015, PubMed:21775430). Interacts with POLN (PubMed:19995904).5 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • DNA polymerase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi120511, 76 interactors
CORUMiQ9NVI1
DIPiDIP-29381N
IntActiQ9NVI1, 56 interactors
MINTiQ9NVI1
STRINGi9606.ENSP00000310842

Structurei

3D structure databases

ProteinModelPortaliQ9NVI1
SMRiQ9NVI1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domaini

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

Phylogenomic databases

eggNOGiKOG4553 Eukaryota
ENOG410XSU9 LUCA
GeneTreeiENSGT00390000005855
HOVERGENiHBG106622
InParanoidiQ9NVI1
KOiK10895
OMAiANETFCL
OrthoDBiEOG091G03X7
PhylomeDBiQ9NVI1
TreeFamiTF323694

Family and domain databases

InterProiView protein in InterPro
IPR026171 FANCI
IPR029310 FANCI_HD1
IPR029312 FANCI_HD2
IPR029308 FANCI_S1
IPR029305 FANCI_S1-cap
IPR029315 FANCI_S2
IPR029313 FANCI_S3
IPR029314 FANCI_S4
PANTHERiPTHR21818 PTHR21818, 1 hit
PfamiView protein in Pfam
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

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti528N → S in BAB47423 (PubMed:11347906).Curated1
Sequence conflicti604M → T in BAA91770 (PubMed:14702039).Curated1
Sequence conflicti877I → L in BAB47423 (PubMed:11347906).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03268955P → L in FANCI; unknown pathological significance; no effect on ubiquitination and DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs62020347EnsemblClinVar.1
Natural variantiVAR_03269086A → V1 PublicationCorresponds to variant dbSNP:rs17803620EnsemblClinVar.1
Natural variantiVAR_027278686Q → K. Corresponds to variant dbSNP:rs28378332EnsemblClinVar.1
Natural variantiVAR_027279742C → S2 PublicationsCorresponds to variant dbSNP:rs2283432EnsemblClinVar.1
Natural variantiVAR_032691858H → Y in FANCI. 1 Publication1
Natural variantiVAR_0326921285R → Q in FANCI; abolishes function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs121918163EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_035606253 – 1328Missing in isoform 4. 1 PublicationAdd BLAST1076
Alternative sequenceiVSP_026069819 – 878Missing in isoform 1 and isoform 2. 1 PublicationAdd BLAST60
Alternative sequenceiVSP_0202571117Missing in isoform 2. 1 Publication1

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]
XP_011520058.1, XM_011521756.2 [Q9NVI1-3]
XP_011520059.1, XM_011521757.2 [Q9NVI1-3]
XP_011520066.1, XM_011521764.2 [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.2 human [Q9NVI1-3]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFANCI_HUMAN
AccessioniPrimary (citable) accession number: Q9NVI1
Secondary accession number(s): A4ZVE4
, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: November 4, 2008
Last modified: July 18, 2018
This is version 142 of the entry and version 4 of the sequence. See 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

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