Entry euk:FP100_HUMAN

ID   FP100_HUMAN             Reviewed;         881 AA.
AC   Q0VG06; A6NNM1; Q8N3F7; Q9BV13; Q9H6K7; Q9H7E8;
DT   29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT   30-NOV-2010, sequence version 3.
DT   12-APR-2017, entry version 97.
DE   RecName: Full=Fanconi anemia core complex-associated protein 100 {ECO:0000303|PubMed:17396147, ECO:0000312|HGNC:HGNC:26171};
DE   AltName: Full=Fanconi anemia-associated protein of 100 kDa;
GN   Name=FAAP100 {ECO:0000303|PubMed:17396147,
GN   ECO:0000312|HGNC:HGNC:26171}; Synonyms=C17orf70;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE
RP   SEQUENCE [LARGE SCALE MRNA] OF 557-881 (ISOFORMS 1/3), AND VARIANTS
RP   LEU-660 AND ALA-817.
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16625196; DOI=10.1038/nature04689;
RA   Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA   Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA   Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA   Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA   DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA   Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA   Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA   Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA   Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA   Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA   Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA   Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA   Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA   Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT   "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT   the human lineage.";
RL   Nature 440:1045-1049(2006).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND
RP   VARIANTS LEU-660 AND ALA-817.
RC   TISSUE=Brain;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-150 (ISOFORM 1).
RC   TISSUE=T-cell;
RA   Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT   "Cloning of human full open reading frames in Gateway(TM) system entry
RT   vector (pDONR201).";
RL   Submitted (JUN-2005) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 482-881 (ISOFORMS 1/3).
RC   TISSUE=Melanoma;
RX   PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA   Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA   Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA   Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA   Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT   "The full-ORF clone resource of the German cDNA consortium.";
RL   BMC Genomics 8:399-399(2007).
RN   [6]
RP   FUNCTION, SUBCELLULAR LOCATION, AND IDENTIFICATION IN THE FA CORE
RP   COMPLEX.
RX   PubMed=17396147; DOI=10.1038/sj.emboj.7601666;
RA   Ling C., Ishiai M., Ali A.M., Medhurst A.L., Neveling K., Kalb R.,
RA   Yan Z., Xue Y., Oostra A.B., Auerbach A.D., Hoatlin M.E.,
RA   Schindler D., Joenje H., de Winter J.P., Takata M., Meetei A.R.,
RA   Wang W.;
RT   "FAAP100 is essential for activation of the Fanconi anemia-associated
RT   DNA damage response pathway.";
RL   EMBO J. 26:2104-2114(2007).
RN   [7]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-667, AND IDENTIFICATION
RP   BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Cervix carcinoma;
RX   PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA   Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA   Elledge S.J., Gygi S.P.;
RT   "A quantitative atlas of mitotic phosphorylation.";
RL   Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN   [8]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-667, AND IDENTIFICATION
RP   BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Erythroleukemia;
RX   PubMed=23186163; DOI=10.1021/pr300630k;
RA   Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA   Mohammed S.;
RT   "Toward a comprehensive characterization of a human cancer cell
RT   phosphoproteome.";
RL   J. Proteome Res. 12:260-271(2013).
RN   [9]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-667, AND IDENTIFICATION
RP   BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Liver;
RX   PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA   Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
RA   Wang L., Ye M., Zou H.;
RT   "An enzyme assisted RP-RPLC approach for in-depth analysis of human
RT   liver phosphoproteome.";
RL   J. Proteomics 96:253-262(2014).
CC   -!- FUNCTION: Plays a role in Fanconi anemia-associated DNA damage
CC       response network. Regulates FANCD2 monoubiquitination and the
CC       stability of the FA core complex. Induces chromosomal instability
CC       as well as hypersensitivity to DNA cross-linking agents, when
CC       repressed. {ECO:0000269|PubMed:17396147}.
CC   -!- SUBUNIT: Belongs to the multisubunit FA complex composed of FANCA,
CC       FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9, FANCM, FAAP24 and
CC       FAAP100. Forms a subcomplex with FANCB and FANCL.
CC       {ECO:0000269|PubMed:17396147}.
CC   -!- INTERACTION:
CC       O15360:FANCA; NbExp=3; IntAct=EBI-2557990, EBI-81570;
CC       Q8NB91:FANCB; NbExp=4; IntAct=EBI-2557990, EBI-2557983;
CC       Q99750:MDFI; NbExp=3; IntAct=EBI-10226932, EBI-724076;
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17396147}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1; Synonyms=b;
CC         IsoId=Q0VG06-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q0VG06-2; Sequence=VSP_025922, VSP_025923;
CC         Note=No experimental confirmation available.;
CC       Name=3; Synonyms=a;
CC         IsoId=Q0VG06-3; Sequence=VSP_038262;
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH21968.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
CC       Sequence=BAB15251.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
CC       Sequence=CAD39037.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
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DR   EMBL; AK024644; BAB14944.1; -; mRNA.
DR   EMBL; AK025828; BAB15251.1; ALT_INIT; mRNA.
DR   EMBL; AC137896; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CR978826; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; BC001724; AAH01724.1; -; mRNA.
DR   EMBL; BC008883; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; BC021968; AAH21968.1; ALT_INIT; mRNA.
DR   EMBL; BC117139; AAI17140.1; -; mRNA.
DR   EMBL; BC117141; AAI17142.1; -; mRNA.
DR   EMBL; AL834374; CAD39037.2; ALT_INIT; mRNA.
DR   CCDS; CCDS32765.2; -. [Q0VG06-1]
DR   RefSeq; NP_079437.5; NM_025161.5. [Q0VG06-1]
DR   RefSeq; XP_006722175.1; XM_006722112.3. [Q0VG06-3]
DR   RefSeq; XP_016880651.1; XM_017025162.1. [Q0VG06-3]
DR   RefSeq; XP_016880652.1; XM_017025163.1. [Q0VG06-3]
DR   UniGene; Hs.313905; -.
DR   ProteinModelPortal; Q0VG06; -.
DR   BioGrid; 123196; 40.
DR   IntAct; Q0VG06; 11.
DR   MINT; MINT-4789080; -.
DR   STRING; 9606.ENSP00000333283; -.
DR   iPTMnet; Q0VG06; -.
DR   PhosphoSitePlus; Q0VG06; -.
DR   BioMuta; FAAP100; -.
DR   DMDM; 313104237; -.
DR   EPD; Q0VG06; -.
DR   MaxQB; Q0VG06; -.
DR   PaxDb; Q0VG06; -.
DR   PeptideAtlas; Q0VG06; -.
DR   PRIDE; Q0VG06; -.
DR   TopDownProteomics; Q0VG06-1; -. [Q0VG06-1]
DR   DNASU; 80233; -.
DR   Ensembl; ENST00000327787; ENSP00000333283; ENSG00000185504. [Q0VG06-1]
DR   GeneID; 80233; -.
DR   KEGG; hsa:80233; -.
DR   UCSC; uc002kaq.4; human. [Q0VG06-1]
DR   CTD; 80233; -.
DR   GeneCards; FAAP100; -.
DR   HGNC; HGNC:26171; FAAP100.
DR   HPA; HPA023954; -.
DR   HPA; HPA024626; -.
DR   HPA; HPA026532; -.
DR   MIM; 611301; gene.
DR   neXtProt; NX_Q0VG06; -.
DR   OpenTargets; ENSG00000185504; -.
DR   PharmGKB; PA142672253; -.
DR   eggNOG; ENOG410IEYW; Eukaryota.
DR   eggNOG; ENOG410YKI3; LUCA.
DR   GeneTree; ENSGT00390000016682; -.
DR   HOGENOM; HOG000112640; -.
DR   HOVERGEN; HBG107926; -.
DR   InParanoid; Q0VG06; -.
DR   KO; K10993; -.
DR   OMA; WHLELLA; -.
DR   OrthoDB; EOG091G0D5C; -.
DR   PhylomeDB; Q0VG06; -.
DR   TreeFam; TF330817; -.
DR   Reactome; R-HSA-6783310; Fanconi Anemia Pathway.
DR   ChiTaRS; C17orf70; human.
DR   GenomeRNAi; 80233; -.
DR   PRO; PR:Q0VG06; -.
DR   Proteomes; UP000005640; Chromosome 17.
DR   Bgee; ENSG00000185504; -.
DR   CleanEx; HS_C17orf70; -.
DR   ExpressionAtlas; Q0VG06; baseline and differential.
DR   Genevisible; Q0VG06; HS.
DR   GO; GO:0005829; C:cytosol; IDA:HPA.
DR   GO; GO:0043240; C:Fanconi anaemia nuclear complex; IEA:InterPro.
DR   GO; GO:0045111; C:intermediate filament cytoskeleton; IDA:HPA.
DR   GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR   GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR   GO; GO:0036297; P:interstrand cross-link repair; TAS:Reactome.
DR   Gene3D; 2.130.10.10; -; 1.
DR   InterPro; IPR029251; Faap100.
DR   InterPro; IPR015943; WD40/YVTN_repeat-like_dom.
DR   Pfam; PF15146; FANCAA; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Complete proteome; DNA damage; DNA repair;
KW   DNA-binding; Nucleus; Phosphoprotein; Polymorphism;
KW   Reference proteome.
FT   CHAIN         1    881       Fanconi anemia core complex-associated
FT                                protein 100.
FT                                /FTId=PRO_0000289130.
FT   MOD_RES     667    667       Phosphoserine.
FT                                {ECO:0000244|PubMed:18669648,
FT                                ECO:0000244|PubMed:23186163,
FT                                ECO:0000244|PubMed:24275569}.
FT   VAR_SEQ       1    628       Missing (in isoform 2).
FT                                {ECO:0000303|PubMed:14702039}.
FT                                /FTId=VSP_025922.
FT   VAR_SEQ       1    151       Missing (in isoform 3).
FT                                {ECO:0000303|PubMed:15489334}.
FT                                /FTId=VSP_038262.
FT   VAR_SEQ     629    665       SDVLPEQEGVCLPLSRHTVDMLQCLRFPGLAPPHTRA ->
FT                                MPASFPMLRCARSPCWTVCWSPWCRALPDGRCSCLSS (in
FT                                isoform 2).
FT                                {ECO:0000303|PubMed:14702039}.
FT                                /FTId=VSP_025923.
FT   VARIANT     660    660       P -> L (in dbSNP:rs11552304).
FT                                {ECO:0000269|PubMed:14702039,
FT                                ECO:0000269|PubMed:15489334}.
FT                                /FTId=VAR_032582.
FT   VARIANT     817    817       T -> A (in dbSNP:rs14422).
FT                                {ECO:0000269|PubMed:14702039,
FT                                ECO:0000269|PubMed:15489334}.
FT                                /FTId=VAR_032583.
FT   CONFLICT    654    654       R -> C (in Ref. 3; BC008883).
FT                                {ECO:0000305}.
CC   --------------------------------------------------------------------------
CC   The following FT lines are automated annotations from the MyHits database.
CC   --------------------------------------------------------------------------
FT   MYHIT       450    881       ipfam:FANCAA [T]
SQ   SEQUENCE   881 AA;  93433 MW;  C586768FB1C7ABD2 CRC64;
     MAGAAPRVRY LAGFCCPLGG LAAGKPRVLC HEAEVFLSTG SELVYVYDQE GGLLTAAFRF
     PDQVWHLELL APRRLLYALC ARRGLYCLSL DHPGRSRSTS QDDRDSEDGD QPSPVIPVDP
     DACILPDAAL CAFTLLDSVL VTLVQGPARW KMQLFEQPCP GEDPRPGGQI GEVELSSYTP
     PAGVPGKPAA PHFLPVLCSV SPSGSRVPHD LLGGSGGFTL EDALFGLLFG ADATLLQSPV
     VLCGLPDGQL CCVILKALVT SRSAPGDPNA LVKILHHLEE PVIFIGALKT EPQAAEAAEN
     FLPDEDVHCD CLVAFGHHGR MLAIKASWDE SGKLVPELRE YCLPGPVLCA ACGGGGRVYH
     STPSDLCVVD LSRGSTPLGP EQPEEGPGGL PPMLCPASLN ICSVVSLSAS PRTHEGGTKL
     LALSAKGRLM TCSLDLDSEM PGPARMTTES AGQKIKELLS GIGNISERVS FLKKAVDQRN
     KALTSLNEAM NVSCALLSSG TGPRPISCTT STTWSRLQTQ DVLMATCVLE NSSSFSLDQG
     WTLCIQVLTS SCALDLDSAC SAITYTIPVD QLGPGARREV TLPLGPGENG GLDLPVTVSC
     TLFYSLREVV GGALAPSDSE DPFLDECPSD VLPEQEGVCL PLSRHTVDML QCLRFPGLAP
     PHTRAPSPLG PTRDPVATFL ETCREPGSQP AGPASLRAEY LPPSVASIKV SAELLRAALK
     DGHSGVPLCC ATLQWLLAEN AAVDVVRARA LSSIQGVAPD GANVHLIVRE VAMTDLCPAG
     PIQAVEIQVE SSSLADICRA HHAVVGRMQT MVTEQATQGS SAPDLRVQYL RQIHANHETL
     LREVQTLRDR LCTEDEASSC ATAQRLLQVY RQLRHPSLIL L
//