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Protein

Fanconi anemia group I protein

Gene

FANCI

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

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

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cell cycle, DNA damage, DNA repair

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

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

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

HGNCiHGNC:25568. FANCI.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • membrane Source: UniProtKB
  • nucleoplasm Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Fanconi anemia complementation group I (FANCI)1 Publication
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 rs62020347dbSNPEnsembl.1
Natural variantiVAR_032691858H → Y in FANCI. 1 Publication1
Natural variantiVAR_0326921285R → Q in FANCI; abolishes function in DNA repair. 2 PublicationsCorresponds to variant rs121918163dbSNPEnsembl.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.
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.

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/FAN1.4 Publications

Binary interactionsi

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

GO - Molecular functioni

  • DNA polymerase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi120511. 50 interactors.
DIPiDIP-29381N.
IntActiQ9NVI1. 27 interactors.
MINTiMINT-1138578.
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.
OMAiSYVQNKS.
OrthoDBiEOG091G03X7.
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. 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 rs62020347dbSNPEnsembl.1
Natural variantiVAR_03269086A → V.1 PublicationCorresponds to variant rs17803620dbSNPEnsembl.1
Natural variantiVAR_027278686Q → K.Corresponds to variant rs28378332dbSNPEnsembl.1
Natural variantiVAR_027279742C → S.2 PublicationsCorresponds to variant rs2283432dbSNPEnsembl.1
Natural variantiVAR_032691858H → Y in FANCI. 1 Publication1
Natural variantiVAR_0326921285R → Q in FANCI; abolishes function in DNA repair. 2 PublicationsCorresponds to variant rs121918163dbSNPEnsembl.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

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.
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.

3D structure databases

ProteinModelPortaliQ9NVI1.
SMRiQ9NVI1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120511. 50 interactors.
DIPiDIP-29381N.
IntActiQ9NVI1. 27 interactors.
MINTiMINT-1138578.
STRINGi9606.ENSP00000310842.

PTM databases

iPTMnetiQ9NVI1.
PhosphoSitePlusiQ9NVI1.

Polymorphism and mutation databases

BioMutaiFANCI.
DMDMi212276518.

Proteomic databases

EPDiQ9NVI1.
PaxDbiQ9NVI1.
PeptideAtlasiQ9NVI1.
PRIDEiQ9NVI1.

Protocols and materials databases

DNASUi55215.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi55215.
DisGeNETi55215.
GeneCardsiFANCI.
GeneReviewsiFANCI.
H-InvDBHIX0012562.
HGNCiHGNC:25568. FANCI.
HPAiHPA039972.
HPA040379.
MalaCardsiFANCI.
MIMi609053. phenotype.
611360. gene.
neXtProtiNX_Q9NVI1.
OpenTargetsiENSG00000140525.
Orphaneti84. Fanconi anemia.
PharmGKBiPA162387928.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4553. Eukaryota.
ENOG410XSU9. LUCA.
GeneTreeiENSGT00390000005855.
HOVERGENiHBG106622.
InParanoidiQ9NVI1.
KOiK10895.
OMAiSYVQNKS.
OrthoDBiEOG091G03X7.
PhylomeDBiQ9NVI1.
TreeFamiTF323694.

Enzyme and pathway databases

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

Miscellaneous databases

GeneWikiiFANCI.
GenomeRNAii55215.
PROiQ9NVI1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000140525.
CleanExiHS_FANCI.
ExpressionAtlasiQ9NVI1. baseline and differential.
GenevisibleiQ9NVI1. HS.

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]
ProtoNetiSearch...

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: November 30, 2016
This is version 127 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.