Q0VG06 (FP100_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Fanconi anemia-associated protein of 100 kDa

Gene names

Name:	FAAP100
Synonyms:	C17orf70

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	881 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	DNA damage DNA repair
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	DNA-binding
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	DNA repair Traceable author statement. Source: Reactome
Cellular_component	cytoplasm Inferred from direct assay. Source: HPA intermediate filament cytoskeleton Inferred from direct assay. Source: HPA nucleoplasm Traceable author statement. Source: Reactome
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 881	881	Fanconi anemia-associated protein of 100 kDa		PRO_0000289130
Amino acid modifications
	Modified residue	667	1	Phosphoserine Ref.7
Natural variations
	Alternative sequence	1 – 628	628	Missing in isoform 2.		VSP_025922
	Alternative sequence	1 – 151	151	Missing in isoform 3.		VSP_038262
	Alternative sequence	629 – 665	37	SDVLP…PHTRA → MPASFPMLRCARSPCWTVCW SPWCRALPDGRCSCLSS in isoform 2.		VSP_025923
	Natural variant	660	1	P → L. Ref.1 Ref.3 Corresponds to variant rs11552304 [ dbSNP | Ensembl ].		VAR_032582
	Natural variant	817	1	T → A. Ref.1 Ref.3 Corresponds to variant rs14422 [ dbSNP | Ensembl ].		VAR_032583
Experimental info
	Sequence conflict	654	1	R → C in BC008883. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (b) [UniParc]. Last modified November 30, 2010. Version 3. Checksum: C586768FB1C7ABD2	FASTA	881	93,433
	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
	Isoform 2 [UniParc]. Checksum: 2E7DDEE936B426BA	FASTA	253	27,379
	10 20 30 40 50 60 MPASFPMLRC ARSPCWTVCW SPWCRALPDG RCSCLSSPSP LGPTRDPVAT FLETCREPGS 70 80 90 100 110 120 QPAGPASLRA EYLPPSVASI KVSAELLRAA LKDGHSGVPL CCATLQWLLA ENAAVDVVRA 130 140 150 160 170 180 RALSSIQGVA PDGANVHLIV REVAMTDLCP AGPIQAVEIQ VESSSLADIC RAHHAVVGRM 190 200 210 220 230 240 QTMVTEQATQ GSSAPDLRVQ YLRQIHANHE TLLREVQTLR DRLCTEDEAS SCATAQRLLQ 250 VYRQLRHPSL ILL
	Isoform 3 (a) [UniParc]. Checksum: 74F9837F3C90F630	FASTA	730	77,050
	10 20 30 40 50 60 MQLFEQPCPG EDPRPGGQIG EVELSSYTPP AGVPGKPAAP HFLPVLCSVS PSGSRVPHDL 70 80 90 100 110 120 LGGSGGFTLE DALFGLLFGA DATLLQSPVV LCGLPDGQLC CVILKALVTS RSAPGDPNAL 130 140 150 160 170 180 VKILHHLEEP VIFIGALKTE PQAAEAAENF LPDEDVHCDC LVAFGHHGRM LAIKASWDES 190 200 210 220 230 240 GKLVPELREY CLPGPVLCAA CGGGGRVYHS TPSDLCVVDL SRGSTPLGPE QPEEGPGGLP 250 260 270 280 290 300 PMLCPASLNI CSVVSLSASP RTHEGGTKLL ALSAKGRLMT CSLDLDSEMP GPARMTTESA 310 320 330 340 350 360 GQKIKELLSG IGNISERVSF LKKAVDQRNK ALTSLNEAMN VSCALLSSGT GPRPISCTTS 370 380 390 400 410 420 TTWSRLQTQD VLMATCVLEN SSSFSLDQGW TLCIQVLTSS CALDLDSACS AITYTIPVDQ 430 440 450 460 470 480 LGPGARREVT LPLGPGENGG LDLPVTVSCT LFYSLREVVG GALAPSDSED PFLDECPSDV 490 500 510 520 530 540 LPEQEGVCLP LSRHTVDMLQ CLRFPGLAPP HTRAPSPLGP TRDPVATFLE TCREPGSQPA 550 560 570 580 590 600 GPASLRAEYL PPSVASIKVS AELLRAALKD GHSGVPLCCA TLQWLLAENA AVDVVRARAL 610 620 630 640 650 660 SSIQGVAPDG ANVHLIVREV AMTDLCPAGP IQAVEIQVES SSLADICRAH HAVVGRMQTM 670 680 690 700 710 720 VTEQATQGSS APDLRVQYLR QIHANHETLL REVQTLRDRL CTEDEASSCA TAQRLLQVYR 730 QLRHPSLILL

References

	« Hide 'large scale' referencesShow '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. , 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. , 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, MASS SPECTROMETRY. 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.
IPI	IPI00477994. IPI00783034. IPI00869161.
RefSeq	NP_079437.5. NM_025161.5.
UniGene	Hs.313905.
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q0VG06. 1 interaction.
MINT	MINT-4789080.
STRING	9606.ENSP00000333283.
PTM databases
PhosphoSite	Q0VG06.
Polymorphism databases
DMDM	150403945.
Proteomic databases
PaxDb	Q0VG06.
PRIDE	Q0VG06.
Protocols and materials databases
DNASU	80233.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000327787; ENSP00000333283; ENSG00000185504. ENST00000537152; ENSP00000440151; ENSG00000185504.
GeneID	80233.
KEGG	hsa:80233.
UCSC	uc002kap.3. human.
Organism-specific databases
CTD	80233.
GeneCards	GC17M079506.
HGNC	HGNC:26171. C17orf70.
HPA	HPA023954. HPA024626. HPA026532.
MIM	611301. gene.
neXtProt	NX_Q0VG06.
PharmGKB	PA142672253.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG40999.
HOGENOM	HOG000112640.
HOVERGEN	HBG107926.
InParanoid	Q0VG06.
KO	K10993.
OMA	PVLCCVS.
OrthoDB	EOG498V03.
Enzyme and pathway databases
Reactome	REACT_216. DNA Repair.
Gene expression databases
ArrayExpress	Q0VG06.
Bgee	Q0VG06.
CleanEx	HS_C17orf70.
Genevestigator	Q0VG06.
Family and domain databases
ProtoNet	Search...
Other
ChiTaRS	C17orf70. human.
GenomeRNAi	80233.
NextBio	70677.
SOURCE	Search...

Entry information

Entry name

FP100_HUMAN

Accession

Primary (citable) accession number: Q0VG06
Secondary accession number(s): A6NNM1 , Q8N3F7, Q9BV13, Q9H6K7, Q9H7E8

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 29, 2007
Last sequence update:	November 30, 2010
Last modified:	April 3, 2013
This is version 63 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.