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Reviewed, UniProtKB/Swiss-Prot Q9HB96 (FANCE_HUMAN)

Last modified February 9, 2010. Version 77. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

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

Protein attributes

Sequence length536 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. Ref.7

Subunit structure

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. Ref.8

Subcellular location

Nucleus Ref.7.

Involvement in disease

Defects in FANCE are a cause of Fanconi anemia (FA) [MIM:227650]. 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.8 Ref.1 Ref.9 Ref.10 Ref.11 Ref.14

Ontologies

Keywords
   Biological processDNA damage
DNA repair
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
Fanconi anemia
   PTMPhosphoprotein
   Technical term3D-structure
Complete proteome
Gene Ontology (GO)
   Biological processDNA repair

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular componentnucleus Ref.1

Non-traceable author statement. Source: UniProtKB

   Molecular functionprotein binding Ref.7

Inferred from physical interaction. Source: IntAct

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

FANCD2Q9BXW92EBI-396803,EBI-359343

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 536536Fanconi anemia group E protein
PRO_0000087187

Regions

Region150 – 371222Interaction with FANCC

Amino acid modifications

Modified residue2491Phosphoserine Ref.12 Ref.13

Natural variations

Natural variant891R → L: dbSNP rs45600543. Ref.2
VAR_023372
Natural variant1841P → Q in FA; uncertain pathological significance. Ref.14
VAR_038022
Natural variant2041S → L: dbSNP rs7761870. Ref.2
VAR_023373
Natural variant3401G → R: dbSNP rs45524646. Ref.2
VAR_023374
Natural variant3431R → Q: dbSNP rs45467798. Ref.2
VAR_023375
Natural variant5021A → T: dbSNP rs9462088. Ref.2
VAR_023376

Secondary structure

................................... 536
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q9HB96-1 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: 0E94D8C469C791A5

FASTA53658,711
        10         20         30         40         50         60 
MATPDAGLPG AEGVEPAPWA QLEAPARLLL QALQAGPEGA RRGLGVLRAL GSRGWEPFDW 

        70         80         90        100        110        120 
GRLLEALCRE EPVVQGPDGR LELKPLLLRL PRICQRNLMS LLMAVRPSLP ESGLLSVLQI 

       130        140        150        160        170        180 
AQQDLAPDPD AWLRALGELL RRDLGVGTSM EGASPLSERC QRQLQSLCRG LGLGGRRLKS 

       190        200        210        220        230        240 
PQAPDPEEEE NRDSQQPGKR RKDSEEEAAS PEGKRVPKRL RCWEEEEDHE KERPEHKSLE 

       250        260        270        280        290        300 
SLADGGSASP IKDQPVMAVK TGEDGSNLDD AKGLAESLEL PKAIQDQLPR LQQLLKTLEE 

       310        320        330        340        350        360 
GLEGLEDAPP VELQLLHECS PSQMDLLCAQ LQLPQLSDLG LLRLCTWLLA LSPDLSLSNA 

       370        380        390        400        410        420 
TVLTRSLFLG RILSLTSSAS RLLTTALTSF CAKYTYPVCS ALLDPVLQAP GTGPAQTELL 

       430        440        450        460        470        480 
CCLVKMESLE PDAQVLMLGQ ILELPWKEET FLVLQSLLER QVEMTPEKFS VLMEKLCKKG 

       490        500        510        520        530 
LAATTSMAYA KLMLTVMTKY QANITETQRL GLAMALEPNT TFLRKSLKAA LKHLGP 

« Hide

References

« Hide 'large scale' references
[1]"Isolation of a cDNA representing the Fanconi anemia complementation group E gene."
de Winter J.P., Leveille F., van Berkel C.G.M., Rooimans M.A., van der Weel L., Steltenpool J., Demuth I., Morgan N.V., Alon N., Bosnoyan-Collins L., Lightfoot J., Leegwater P.A., Waisfisz Q., Komatsu K., Arwert F., Pronk J.C., Mathew C.G., Digweed M., Buchwald M., Joenje H.
Am. J. Hum. Genet. 67:1306-1308(2000) [PubMed: 11001585] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], DISEASE.
[2]NIEHS SNPs program
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS LEU-89; LEU-204; ARG-340; GLN-343 AND THR-502.
[3]"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].
Tissue: Testis.
[4]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed: 14574404] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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].
Tissue: Eye.
[7]"FANCE: the link between Fanconi anaemia complex assembly and activity."
Pace P., Johnson M., Tan W.M., Mosedale G., Sng C., Hoatlin M.E., de Winter J.P., Joenje H., Gergely F., Patel K.J.
EMBO J. 21:3414-3423(2002) [PubMed: 12093742] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.
[8]"Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid systems."
Gordon S.M., Buchwald M.
Blood 102:136-141(2003) [PubMed: 12649160] [Abstract]
Cited for: INTERACTION WITH FANCC AND FANCD2.
[9]"A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome."
Meetei A.R., Sechi S., Wallisch M., Yang D., Young M.K., Joenje H., Hoatlin M.E., Wang W.
Mol. Cell. Biol. 23:3417-3426(2003) [PubMed: 12724401] [Abstract]
Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCC; FANCF; FANCG AND FANCL.
[10]"X-linked inheritance of Fanconi anemia complementation group B."
Meetei A.R., Levitus M., Xue Y., Medhurst A.L., Zwaan M., Ling C., Rooimans M.A., Bier P., Hoatlin M., Pals G., de Winter J.P., Wang W., Joenje H.
Nat. Genet. 36:1219-1224(2004) [PubMed: 15502827] [Abstract]
Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCB; FANCC; FANCF; FANCG AND FANCL.
[11]"A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M."
Meetei A.R., Medhurst A.L., Ling C., Xue Y., Singh T.R., Bier P., Steltenpool J., Stone S., Dokal I., Mathew C.G., Hoatlin M., Joenje H., de Winter J.P., Wang W.
Nat. Genet. 37:958-963(2005) [PubMed: 16116422] [Abstract]
Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCB; FANCC; FANCF; FANCG; FANCL AND FANCM.
[12]"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-249, MASS SPECTROMETRY.
[13]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-249, MASS SPECTROMETRY.
Tissue: T-cell.
[14]"Genetic subtyping of Fanconi anemia by comprehensive mutation screening."
Ameziane N., Errami A., Leveille F., Fontaine C., de Vries Y., van Spaendonk R.M., de Winter J.P., Pals G., Joenje H.
Hum. Mutat. 29:159-166(2008) [PubMed: 17924555] [Abstract]
Cited for: VARIANT FA GLN-184.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF265210 mRNA. Translation: AAG16743.1.
DQ020173 Genomic DNA. Translation: AAY26395.1.
AK292522 mRNA. Translation: BAF85211.1.
AL022721 Genomic DNA. Translation: CAD92504.1.
CH471081 Genomic DNA. Translation: EAX03830.1.
BC046359 mRNA. Translation: AAH46359.1.
IPIIPI00030252.
RefSeqNP_068741.1.
UniGeneHs.302003

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2ILRX-ray2.00A273-536[»]
ModBaseSearch...

Protein-protein interaction databases

IntActQ9HB96. 6 interactions.
STRINGQ9HB96.

PTM databases

PhosphoSiteQ9HB96.

Proteomic databases

PRIDEQ9HB96.

Genome annotation databases

EnsemblENST00000229769; ENSP00000229769; ENSG00000112039; Homo sapiens. [Genome view]
GeneID2178.
KEGGhsa:2178.
UCSCuc003oko.1. human.

Organism-specific databases

CTD2178.
GeneCardsGC06P035528.
H-InvDBHIX0025034.
HGNCHGNC:3586. FANCE.
HPACAB014893.
MIM227650. phenotype.
600901. gene+phenotype.
Orphanet84. Fanconi anemia.
PharmGKBPA28000.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG04723.
HOGENOMHBG279196.
HOVERGENQ9HB96.
InParanoidQ9HB96.
OMALCQRNLM.
OrthoDBEOG9H48Q2.
PhylomeDBQ9HB96.

Enzyme and pathway databases

Pathway_Interaction_DBbard1pathway. BARD1 signaling events.
ReactomeREACT_216. DNA Repair.

Gene expression databases

ArrayExpressQ9HB96.
BgeeQ9HB96.
CleanExHS_FANCE.
GenevestigatorQ9HB96.
GermOnlineENSG00000112039. Homo sapiens.

Family and domain databases

InterProIPR021025. Fanconi_anaemia_gr_E_prot_C.
[Graphical view]
PfamPF11510. FA_FANCE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio8797.
SOURCESearch...

Entry information

Entry nameFANCE_HUMAN
AccessionPrimary (citable) accession number: Q9HB96
Secondary accession number(s): A8K907, Q4ZGH2
Entry history
Integrated into UniProtKB/Swiss-Prot: March 15, 2004
Last sequence update: March 1, 2001
Last modified: February 9, 2010
This is version 77 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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.

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Human chromosome 6: entries, gene names and cross-references to MIM

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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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

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