Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q0VG06 (FP100_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 72. 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·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Fanconi anemia-associated protein of 100 kDa
Gene names
Name:FAAP100
Synonyms:C17orf70
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length881 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Plays a role in Fanconi anemia-associated DNA damage response network. Regulates FANCD2 monoubiquitination and the stability of the FA core complex. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed. Ref.6

Subunit structure

Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9, FANCM, FAAP24 and FAAP100. Forms a subcomplex with FANCB and FANCL. Ref.6

Subcellular location

Nucleus Ref.6.

Sequence caution

The sequence AAH21968.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAB15251.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence CAD39037.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Biological processDNA damage
DNA repair
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   LigandDNA-binding
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processDNA repair

Traceable author statement. Source: Reactome

   Cellular_componentcytoplasm

Inferred from direct assay. Source: HPA

intermediate filament cytoskeleton

Inferred from direct assay. Source: HPA

nucleoplasm

Traceable author statement. Source: Reactome

nucleus

Inferred from direct assay. Source: HPA

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

protein binding

Inferred from physical interaction Ref.6. Source: IntAct

Complete GO annotation...

Binary interactions

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q0VG06-1)

Also known as: b;

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: Q0VG06-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-628: Missing.
     629-665: SDVLPEQEGVCLPLSRHTVDMLQCLRFPGLAPPHTRA → MPASFPMLRCARSPCWTVCWSPWCRALPDGRCSCLSS
Note: No experimental confirmation available.
Isoform 3 (identifier: Q0VG06-3)

Also known as: a;

The sequence of this isoform differs from the canonical sequence as follows:
     1-151: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 881881Fanconi anemia-associated protein of 100 kDa
PRO_0000289130

Amino acid modifications

Modified residue6671Phosphoserine Ref.7

Natural variations

Alternative sequence1 – 628628Missing in isoform 2.
VSP_025922
Alternative sequence1 – 151151Missing in isoform 3.
VSP_038262
Alternative sequence629 – 66537SDVLP…PHTRA → MPASFPMLRCARSPCWTVCW SPWCRALPDGRCSCLSS in isoform 2.
VSP_025923
Natural variant6601P → L. Ref.1 Ref.3
Corresponds to variant rs11552304 [ dbSNP | Ensembl ].
VAR_032582
Natural variant8171T → A. Ref.1 Ref.3
Corresponds to variant rs14422 [ dbSNP | Ensembl ].
VAR_032583

Experimental info

Sequence conflict6541R → C in BC008883. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (b) [UniParc].

Last modified November 30, 2010. Version 3.
Checksum: C586768FB1C7ABD2

FASTA88193,433
        10         20         30         40         50         60 
MAGAAPRVRY LAGFCCPLGG LAAGKPRVLC HEAEVFLSTG SELVYVYDQE GGLLTAAFRF 

        70         80         90        100        110        120 
PDQVWHLELL APRRLLYALC ARRGLYCLSL DHPGRSRSTS QDDRDSEDGD QPSPVIPVDP 

       130        140        150        160        170        180 
DACILPDAAL CAFTLLDSVL VTLVQGPARW KMQLFEQPCP GEDPRPGGQI GEVELSSYTP 

       190        200        210        220        230        240 
PAGVPGKPAA PHFLPVLCSV SPSGSRVPHD LLGGSGGFTL EDALFGLLFG ADATLLQSPV 

       250        260        270        280        290        300 
VLCGLPDGQL CCVILKALVT SRSAPGDPNA LVKILHHLEE PVIFIGALKT EPQAAEAAEN 

       310        320        330        340        350        360 
FLPDEDVHCD CLVAFGHHGR MLAIKASWDE SGKLVPELRE YCLPGPVLCA ACGGGGRVYH 

       370        380        390        400        410        420 
STPSDLCVVD LSRGSTPLGP EQPEEGPGGL PPMLCPASLN ICSVVSLSAS PRTHEGGTKL 

       430        440        450        460        470        480 
LALSAKGRLM TCSLDLDSEM PGPARMTTES AGQKIKELLS GIGNISERVS FLKKAVDQRN 

       490        500        510        520        530        540 
KALTSLNEAM NVSCALLSSG TGPRPISCTT STTWSRLQTQ DVLMATCVLE NSSSFSLDQG 

       550        560        570        580        590        600 
WTLCIQVLTS SCALDLDSAC SAITYTIPVD QLGPGARREV TLPLGPGENG GLDLPVTVSC 

       610        620        630        640        650        660 
TLFYSLREVV GGALAPSDSE DPFLDECPSD VLPEQEGVCL PLSRHTVDML QCLRFPGLAP 

       670        680        690        700        710        720 
PHTRAPSPLG PTRDPVATFL ETCREPGSQP AGPASLRAEY LPPSVASIKV SAELLRAALK 

       730        740        750        760        770        780 
DGHSGVPLCC ATLQWLLAEN AAVDVVRARA LSSIQGVAPD GANVHLIVRE VAMTDLCPAG 

       790        800        810        820        830        840 
PIQAVEIQVE SSSLADICRA HHAVVGRMQT MVTEQATQGS SAPDLRVQYL RQIHANHETL 

       850        860        870        880 
LREVQTLRDR LCTEDEASSC ATAQRLLQVY RQLRHPSLIL L 

« Hide

Isoform 2 [UniParc].

Checksum: 2E7DDEE936B426BA
Show »

FASTA25327,379
Isoform 3 (a) [UniParc].

Checksum: 74F9837F3C90F630
Show »

FASTA73077,050

References

« Hide 'large scale' references
[1]"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] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 557-881 (ISOFORMS 1/3), VARIANTS LEU-660 AND ALA-817.
[2]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"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 1 AND 3), VARIANTS LEU-660 AND ALA-817.
Tissue: Brain.
[4]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-150 (ISOFORM 1).
Tissue: T-cell.
[5]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 482-881 (ISOFORMS 1/3).
Tissue: Melanoma.
[6]"FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway."
Ling C., Ishiai M., Ali A.M., Medhurst A.L., Neveling K., Kalb R., Yan Z., Xue Y., Oostra A.B., Auerbach A.D., Hoatlin M.E., Schindler D., Joenje H., de Winter J.P., Takata M., Meetei A.R., Wang W.
EMBO J. 26:2104-2114(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION IN THE FA CORE COMPLEX.
[7]"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-667, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK024644 mRNA. Translation: BAB14944.1.
AK025828 mRNA. Translation: BAB15251.1. Different initiation.
AC137896 Genomic DNA. No translation available.
CR978826 mRNA. No translation available.
BC001724 mRNA. Translation: AAH01724.1.
BC008883 mRNA. No translation available.
BC021968 mRNA. Translation: AAH21968.1. Different initiation.
BC117139 mRNA. Translation: AAI17140.1.
BC117141 mRNA. Translation: AAI17142.1.
AL834374 mRNA. Translation: CAD39037.2. Different initiation.
CCDSCCDS32765.2. [Q0VG06-1]
RefSeqNP_079437.5. NM_025161.5. [Q0VG06-1]
XP_006722175.1. XM_006722112.1. [Q0VG06-3]
UniGeneHs.313905.

3D structure databases

ProteinModelPortalQ0VG06.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123196. 11 interactions.
IntActQ0VG06. 5 interactions.
MINTMINT-4789080.
STRING9606.ENSP00000333283.

PTM databases

PhosphoSiteQ0VG06.

Polymorphism databases

DMDM313104237.

Proteomic databases

MaxQBQ0VG06.
PaxDbQ0VG06.
PRIDEQ0VG06.

Protocols and materials databases

DNASU80233.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000327787; ENSP00000333283; ENSG00000185504. [Q0VG06-1]
ENST00000537152; ENSP00000440151; ENSG00000185504. [Q0VG06-3]
GeneID80233.
KEGGhsa:80233.
UCSCuc002kap.3. human. [Q0VG06-1]

Organism-specific databases

CTD80233.
GeneCardsGC17M079506.
HGNCHGNC:26171. C17orf70.
HPAHPA023954.
HPA024626.
HPA026532.
MIM611301. gene.
neXtProtNX_Q0VG06.
PharmGKBPA142672253.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG40999.
HOGENOMHOG000112640.
HOVERGENHBG107926.
InParanoidQ0VG06.
KOK10993.
OMAIKASWDE.
OrthoDBEOG7WT40J.
PhylomeDBQ0VG06.
TreeFamTF330817.

Enzyme and pathway databases

ReactomeREACT_216. DNA Repair.

Gene expression databases

ArrayExpressQ0VG06.
BgeeQ0VG06.
CleanExHS_C17orf70.
GenevestigatorQ0VG06.

Family and domain databases

InterProIPR029251. Faap100.
[Graphical view]
PfamPF15146. FANCAA. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSC17orf70. human.
GenomeRNAi80233.
NextBio70677.
PROQ0VG06.
SOURCESearch...

Entry information

Entry nameFP100_HUMAN
AccessionPrimary (citable) accession number: Q0VG06
Secondary accession number(s): A6NNM1 expand/collapse secondary AC list , Q8N3F7, Q9BV13, Q9H6K7, Q9H7E8
Entry history
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: November 30, 2010
Last modified: July 9, 2014
This is version 72 of the entry and version 3 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 17

Human chromosome 17: entries, gene names and cross-references to MIM