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Protein

Fanconi anemia group E protein

Gene

FANCE

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

Functioni

As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair. Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.2 Publications

GO - Biological processi

Keywordsi

Biological processDNA damage, DNA repair

Enzyme and pathway databases

ReactomeiR-HSA-6783310 Fanconi Anemia Pathway
SIGNORiQ9HB96

Names & Taxonomyi

Protein namesi
Recommended name:
Fanconi anemia group E protein
Short name:
Protein FACE
Gene namesi
Name:FANCE
Synonyms:FACE
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000112039.3
HGNCiHGNC:3586 FANCE
MIMi613976 gene
neXtProtiNX_Q9HB96

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 E (FANCE)2 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:600901
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038022184P → Q in FANCE; uncertain pathological significance. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi346T → A: Non-phosphorylatable by CHEK1, not polyubiquitinated and unable to complement the mitomycin C hypersensitivity of cells lacking FANCE; when associated with A-374. 1 Publication1
Mutagenesisi374S → A: Non-phosphorylatable by CHEK1, not polyubiquitinated and unable to complement the mitomycin C hypersensitivity of cells lacking FANCE; when associated with A-346. 1 Publication1

Keywords - Diseasei

Disease mutation, Fanconi anemia

Organism-specific databases

DisGeNETi2178
GeneReviewsiFANCE
MalaCardsiFANCE
MIMi600901 phenotype
OpenTargetsiENSG00000112039
Orphaneti84 Fanconi anemia
PharmGKBiPA28000

Polymorphism and mutation databases

BioMutaiFANCE
DMDMi45476978

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000871871 – 536Fanconi anemia group E proteinAdd BLAST536

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei249PhosphoserineCombined sources1
Modified residuei346Phosphothreonine; by CHEK11 Publication1
Modified residuei374Phosphoserine; by CHEK11 Publication1

Post-translational modificationi

Phosphorylated. Phosphorylation by CHEK1 at Thr-346 and Ser-374 regulates its function in DNA cross-links repair.1 Publication
Ubiquitinated. Phosphorylation by CHEK1 induces polyubiquitination and degradation.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9HB96
MaxQBiQ9HB96
PaxDbiQ9HB96
PeptideAtlasiQ9HB96
PRIDEiQ9HB96
TopDownProteomicsiQ9HB96

PTM databases

iPTMnetiQ9HB96
PhosphoSitePlusiQ9HB96

Expressioni

Gene expression databases

BgeeiENSG00000112039
CleanExiHS_FANCE
GenevisibleiQ9HB96 HS

Organism-specific databases

HPAiCAB014893

Interactioni

Subunit structurei

Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. Interacts with FANCC and FANCD2.5 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi10847527 interactors.
CORUMiQ9HB96
DIPiDIP-32845N
IntActiQ9HB96 9 interactors.
MINTiQ9HB96
STRINGi9606.ENSP00000229769

Structurei

Secondary structure

1536
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi282 – 299Combined sources18
Helixi311 – 314Combined sources4
Helixi315 – 318Combined sources4
Helixi321 – 331Combined sources11
Helixi333 – 335Combined sources3
Helixi338 – 350Combined sources13
Helixi357 – 374Combined sources18
Helixi381 – 393Combined sources13
Helixi395 – 408Combined sources14
Helixi414 – 425Combined sources12
Helixi431 – 443Combined sources13
Helixi448 – 458Combined sources11
Helixi466 – 477Combined sources12
Helixi487 – 499Combined sources13
Helixi501 – 503Combined sources3
Helixi506 – 516Combined sources11
Beta strandi518 – 523Combined sources6
Helixi524 – 534Combined sources11

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2ILRX-ray2.00A273-536[»]
ProteinModelPortaliQ9HB96
SMRiQ9HB96
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9HB96

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni150 – 371Interaction with FANCC1 PublicationAdd BLAST222

Phylogenomic databases

eggNOGiENOG410IVFU Eukaryota
ENOG4112DCN LUCA
GeneTreeiENSGT00390000000705
HOGENOMiHOG000013179
InParanoidiQ9HB96
KOiK10892
OMAiIQDQVPR
OrthoDBiEOG091G0CLU
PhylomeDBiQ9HB96
TreeFamiTF330720

Family and domain databases

CDDicd07439 FANCE_c-term, 1 hit
InterProiView protein in InterPro
IPR021025 Fanconi_anaemia_gr_E_prot_C
PfamiView protein in Pfam
PF11510 FA_FANCE, 1 hit

Sequencei

Sequence statusi: Complete.

Q9HB96-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MATPDAGLPG AEGVEPAPWA QLEAPARLLL QALQAGPEGA RRGLGVLRAL
60 70 80 90 100
GSRGWEPFDW GRLLEALCRE EPVVQGPDGR LELKPLLLRL PRICQRNLMS
110 120 130 140 150
LLMAVRPSLP ESGLLSVLQI AQQDLAPDPD AWLRALGELL RRDLGVGTSM
160 170 180 190 200
EGASPLSERC QRQLQSLCRG LGLGGRRLKS PQAPDPEEEE NRDSQQPGKR
210 220 230 240 250
RKDSEEEAAS PEGKRVPKRL RCWEEEEDHE KERPEHKSLE SLADGGSASP
260 270 280 290 300
IKDQPVMAVK TGEDGSNLDD AKGLAESLEL PKAIQDQLPR LQQLLKTLEE
310 320 330 340 350
GLEGLEDAPP VELQLLHECS PSQMDLLCAQ LQLPQLSDLG LLRLCTWLLA
360 370 380 390 400
LSPDLSLSNA TVLTRSLFLG RILSLTSSAS RLLTTALTSF CAKYTYPVCS
410 420 430 440 450
ALLDPVLQAP GTGPAQTELL CCLVKMESLE PDAQVLMLGQ ILELPWKEET
460 470 480 490 500
FLVLQSLLER QVEMTPEKFS VLMEKLCKKG LAATTSMAYA KLMLTVMTKY
510 520 530
QANITETQRL GLAMALEPNT TFLRKSLKAA LKHLGP
Length:536
Mass (Da):58,711
Last modified:March 1, 2001 - v1
Checksum:i0E94D8C469C791A5
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02337289R → L1 PublicationCorresponds to variant dbSNP:rs45600543Ensembl.1
Natural variantiVAR_038022184P → Q in FANCE; uncertain pathological significance. 1 Publication1
Natural variantiVAR_023373204S → L1 PublicationCorresponds to variant dbSNP:rs7761870Ensembl.1
Natural variantiVAR_023374340G → R1 PublicationCorresponds to variant dbSNP:rs45524646Ensembl.1
Natural variantiVAR_023375343R → Q1 PublicationCorresponds to variant dbSNP:rs45467798Ensembl.1
Natural variantiVAR_023376502A → T1 PublicationCorresponds to variant dbSNP:rs9462088Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF265210 mRNA Translation: AAG16743.1
DQ020173 Genomic DNA Translation: AAY26395.1
AK292522 mRNA Translation: BAF85211.1
AL022721 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX03830.1
BC046359 mRNA Translation: AAH46359.1
CCDSiCCDS4805.1
RefSeqiNP_068741.1, NM_021922.2
UniGeneiHs.302003

Genome annotation databases

EnsembliENST00000229769; ENSP00000229769; ENSG00000112039
GeneIDi2178
KEGGihsa:2178
UCSCiuc003oko.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFANCE_HUMAN
AccessioniPrimary (citable) accession number: Q9HB96
Secondary accession number(s): A8K907, Q4ZGH2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 15, 2004
Last sequence update: March 1, 2001
Last modified: March 28, 2018
This is version 146 of the entry and version 1 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

3D-structure, Complete proteome, Reference proteome