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 03-AUG-2022, entry version 131.
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, ECO:0000312|HGNC:HGNC:26171};
GN Synonyms=C17orf70;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 557-881 (ISOFORMS 1/3), AND VARIANTS LEU-660 AND
RP 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., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., 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., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA 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., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., 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 the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND VARIANTS
RP 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 project:
RT 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., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA 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 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., Yan Z.,
RA Xue Y., Oostra A.B., Auerbach A.D., Hoatlin M.E., Schindler D., Joenje H.,
RA de Winter J.P., Takata M., Meetei A.R., Wang W.;
RT "FAAP100 is essential for activation of the Fanconi anemia-associated DNA
RT damage response pathway.";
RL EMBO J. 26:2104-2114(2007).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-667, AND IDENTIFICATION BY
RP 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 BY
RP 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 BY
RP 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., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- FUNCTION: Plays a role in Fanconi anemia-associated DNA damage response
CC network. Regulates FANCD2 monoubiquitination and the stability of the
CC FA core complex. Induces chromosomal instability as well as
CC hypersensitivity to DNA cross-linking agents, when repressed.
CC {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 Q0VG06; O15360: FANCA; NbExp=3; IntAct=EBI-2557990, EBI-81570;
CC Q0VG06; Q8NB91: FANCB; NbExp=4; IntAct=EBI-2557990, EBI-2557983;
CC Q0VG06-3; Q9BTE6-2: AARSD1; NbExp=3; IntAct=EBI-10226932, EBI-9357295;
CC Q0VG06-3; P49639: HOXA1; NbExp=3; IntAct=EBI-10226932, EBI-740785;
CC Q0VG06-3; 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 Name=3; Synonyms=a;
CC IsoId=Q0VG06-3; Sequence=VSP_038262;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH21968.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB15251.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAD39037.2; Type=Erroneous initiation; Note=Truncated N-terminus.; 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 PDB; 7KZP; EM; 3.10 A; P/Q=1-881.
DR PDB; 7KZQ; EM; 4.20 A; P/Q=1-881.
DR PDB; 7KZR; EM; 4.20 A; P/Q=1-881.
DR PDB; 7KZS; EM; 4.20 A; P/Q=1-881.
DR PDB; 7KZT; EM; 4.20 A; P/Q=1-881.
DR PDB; 7KZV; EM; 4.20 A; P/Q=1-881.
DR PDBsum; 7KZP; -.
DR PDBsum; 7KZQ; -.
DR PDBsum; 7KZR; -.
DR PDBsum; 7KZS; -.
DR PDBsum; 7KZT; -.
DR PDBsum; 7KZV; -.
DR AlphaFoldDB; Q0VG06; -.
DR SMR; Q0VG06; -.
DR BioGRID; 123196; 118.
DR ComplexPortal; CPX-6263; Fanconi anemia ubiquitin ligase complex.
DR CORUM; Q0VG06; -.
DR IntAct; Q0VG06; 30.
DR MINT; Q0VG06; -.
DR STRING; 9606.ENSP00000333283; -.
DR iPTMnet; Q0VG06; -.
DR PhosphoSitePlus; Q0VG06; -.
DR BioMuta; FAAP100; -.
DR DMDM; 313104237; -.
DR CPTAC; CPTAC-3224; -.
DR CPTAC; CPTAC-3225; -.
DR EPD; Q0VG06; -.
DR jPOST; Q0VG06; -.
DR MassIVE; Q0VG06; -.
DR MaxQB; Q0VG06; -.
DR PaxDb; Q0VG06; -.
DR PeptideAtlas; Q0VG06; -.
DR PRIDE; Q0VG06; -.
DR ProteomicsDB; 58837; -. [Q0VG06-1]
DR ProteomicsDB; 58838; -. [Q0VG06-2]
DR ProteomicsDB; 58839; -. [Q0VG06-3]
DR TopDownProteomics; Q0VG06-1; -. [Q0VG06-1]
DR Antibodypedia; 19824; 70 antibodies from 17 providers.
DR CPTC; Q0VG06; 4 antibodies.
DR DNASU; 80233; -.
DR Ensembl; ENST00000327787.13; ENSP00000333283.8; ENSG00000185504.17. [Q0VG06-1]
DR GeneID; 80233; -.
DR KEGG; hsa:80233; -.
DR MANE-Select; ENST00000327787.13; ENSP00000333283.8; NM_025161.6; NP_079437.5.
DR UCSC; uc002kaq.4; human. [Q0VG06-1]
DR CTD; 80233; -.
DR DisGeNET; 80233; -.
DR GeneCards; FAAP100; -.
DR GeneReviews; FAAP100; -.
DR HGNC; HGNC:26171; FAAP100.
DR HPA; ENSG00000185504; Low tissue specificity.
DR MIM; 611301; gene.
DR neXtProt; NX_Q0VG06; -.
DR OpenTargets; ENSG00000185504; -.
DR PharmGKB; PA142672253; -.
DR VEuPathDB; HostDB:ENSG00000185504; -.
DR eggNOG; ENOG502QTI0; Eukaryota.
DR GeneTree; ENSGT00390000016682; -.
DR HOGENOM; CLU_018470_0_0_1; -.
DR InParanoid; Q0VG06; -.
DR OMA; MYHSTPS; -.
DR PhylomeDB; Q0VG06; -.
DR TreeFam; TF330817; -.
DR PathwayCommons; Q0VG06; -.
DR Reactome; R-HSA-6783310; Fanconi Anemia Pathway.
DR SignaLink; Q0VG06; -.
DR SIGNOR; Q0VG06; -.
DR BioGRID-ORCS; 80233; 88 hits in 1067 CRISPR screens.
DR ChiTaRS; FAAP100; human.
DR GenomeRNAi; 80233; -.
DR Pharos; Q0VG06; Tdark.
DR PRO; PR:Q0VG06; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q0VG06; protein.
DR Bgee; ENSG00000185504; Expressed in right hemisphere of cerebellum and 123 other tissues.
DR ExpressionAtlas; Q0VG06; baseline and differential.
DR Genevisible; Q0VG06; HS.
DR GO; GO:0000785; C:chromatin; IDA:ComplexPortal.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0043240; C:Fanconi anaemia nuclear complex; IC:ComplexPortal.
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; IC:ComplexPortal.
DR GO; GO:0006513; P:protein monoubiquitination; IDA:ComplexPortal.
DR InterPro; IPR029251; Faap100.
DR PANTHER; PTHR14890; PTHR14890; 1.
DR Pfam; PF15146; FANCAA; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; DNA damage; DNA repair; DNA-binding;
KW Nucleus; Phosphoprotein; Reference proteome.
FT CHAIN 1..881
FT /note="Fanconi anemia core complex-associated protein 100"
FT /id="PRO_0000289130"
FT REGION 94..119
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 96..110
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 667
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569"
FT VAR_SEQ 1..628
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025922"
FT VAR_SEQ 1..151
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_038262"
FT VAR_SEQ 629..665
FT /note="SDVLPEQEGVCLPLSRHTVDMLQCLRFPGLAPPHTRA -> MPASFPMLRCA
FT RSPCWTVCWSPWCRALPDGRCSCLSS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025923"
FT VARIANT 660
FT /note="P -> L (in dbSNP:rs11552304)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_032582"
FT VARIANT 817
FT /note="T -> A (in dbSNP:rs14422)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_032583"
FT CONFLICT 654
FT /note="R -> C (in Ref. 3; BC008883)"
FT /evidence="ECO:0000305"
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
