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Q0VG06

- FP100_HUMAN

UniProt

Q0VG06 - FP100_HUMAN

Protein

Fanconi anemia-associated protein of 100 kDa

Gene

FAAP100

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 74 (01 Oct 2014)
      Sequence version 3 (30 Nov 2010)
      Previous versions | rss
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    Functioni

    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.1 Publication

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW
    2. protein binding Source: IntAct

    GO - Biological processi

    1. DNA repair Source: Reactome

    Keywords - Biological processi

    DNA damage, DNA repair

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    ReactomeiREACT_18410. Fanconi Anemia pathway.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Fanconi anemia-associated protein of 100 kDa
    Gene namesi
    Name:FAAP100
    Synonyms:C17orf70
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:26171. C17orf70.

    Subcellular locationi

    Nucleus 1 Publication

    GO - Cellular componenti

    1. cytoplasm Source: HPA
    2. Fanconi anaemia nuclear complex Source: InterPro
    3. intermediate filament cytoskeleton Source: HPA
    4. nucleoplasm Source: Reactome
    5. nucleus Source: HPA

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142672253.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 881881Fanconi anemia-associated protein of 100 kDaPRO_0000289130Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei667 – 6671Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ0VG06.
    PaxDbiQ0VG06.
    PRIDEiQ0VG06.

    PTM databases

    PhosphoSiteiQ0VG06.

    Expressioni

    Gene expression databases

    ArrayExpressiQ0VG06.
    BgeeiQ0VG06.
    CleanExiHS_C17orf70.
    GenevestigatoriQ0VG06.

    Organism-specific databases

    HPAiHPA023954.
    HPA024626.
    HPA026532.

    Interactioni

    Subunit structurei

    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.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    FANCAO153603EBI-2557990,EBI-81570
    FANCBQ8NB914EBI-2557990,EBI-2557983

    Protein-protein interaction databases

    BioGridi123196. 11 interactions.
    IntActiQ0VG06. 5 interactions.
    MINTiMINT-4789080.
    STRINGi9606.ENSP00000333283.

    Structurei

    3D structure databases

    ProteinModelPortaliQ0VG06.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Phylogenomic databases

    eggNOGiNOG40999.
    HOGENOMiHOG000112640.
    HOVERGENiHBG107926.
    InParanoidiQ0VG06.
    KOiK10993.
    OMAiIKASWDE.
    OrthoDBiEOG7WT40J.
    PhylomeDBiQ0VG06.
    TreeFamiTF330817.

    Family and domain databases

    InterProiIPR029251. Faap100.
    [Graphical view]
    PfamiPF15146. FANCAA. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q0VG06-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MAGAAPRVRY LAGFCCPLGG LAAGKPRVLC HEAEVFLSTG SELVYVYDQE    50
    GGLLTAAFRF PDQVWHLELL APRRLLYALC ARRGLYCLSL DHPGRSRSTS 100
    QDDRDSEDGD QPSPVIPVDP DACILPDAAL CAFTLLDSVL VTLVQGPARW 150
    KMQLFEQPCP GEDPRPGGQI GEVELSSYTP PAGVPGKPAA PHFLPVLCSV 200
    SPSGSRVPHD LLGGSGGFTL EDALFGLLFG ADATLLQSPV VLCGLPDGQL 250
    CCVILKALVT SRSAPGDPNA LVKILHHLEE PVIFIGALKT EPQAAEAAEN 300
    FLPDEDVHCD CLVAFGHHGR MLAIKASWDE SGKLVPELRE YCLPGPVLCA 350
    ACGGGGRVYH STPSDLCVVD LSRGSTPLGP EQPEEGPGGL PPMLCPASLN 400
    ICSVVSLSAS PRTHEGGTKL LALSAKGRLM TCSLDLDSEM PGPARMTTES 450
    AGQKIKELLS GIGNISERVS FLKKAVDQRN KALTSLNEAM NVSCALLSSG 500
    TGPRPISCTT STTWSRLQTQ DVLMATCVLE NSSSFSLDQG WTLCIQVLTS 550
    SCALDLDSAC SAITYTIPVD QLGPGARREV TLPLGPGENG GLDLPVTVSC 600
    TLFYSLREVV GGALAPSDSE DPFLDECPSD VLPEQEGVCL PLSRHTVDML 650
    QCLRFPGLAP PHTRAPSPLG PTRDPVATFL ETCREPGSQP AGPASLRAEY 700
    LPPSVASIKV SAELLRAALK DGHSGVPLCC ATLQWLLAEN AAVDVVRARA 750
    LSSIQGVAPD GANVHLIVRE VAMTDLCPAG PIQAVEIQVE SSSLADICRA 800
    HHAVVGRMQT MVTEQATQGS SAPDLRVQYL RQIHANHETL LREVQTLRDR 850
    LCTEDEASSC ATAQRLLQVY RQLRHPSLIL L 881
    Length:881
    Mass (Da):93,433
    Last modified:November 30, 2010 - v3
    Checksum:iC586768FB1C7ABD2
    GO
    Isoform 2 (identifier: Q0VG06-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-628: Missing.
         629-665: SDVLPEQEGVCLPLSRHTVDMLQCLRFPGLAPPHTRA → MPASFPMLRCARSPCWTVCWSPWCRALPDGRCSCLSS

    Note: No experimental confirmation available.

    Show »
    Length:253
    Mass (Da):27,379
    Checksum:i2E7DDEE936B426BA
    GO
    Isoform 3 (identifier: Q0VG06-3) [UniParc]FASTAAdd to Basket

    Also known as: a

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

    Show »
    Length:730
    Mass (Da):77,050
    Checksum:i74F9837F3C90F630
    GO

    Sequence cautioni

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti654 – 6541R → C in BC008883. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti660 – 6601P → L.2 Publications
    Corresponds to variant rs11552304 [ dbSNP | Ensembl ].
    VAR_032582
    Natural varianti817 – 8171T → A.2 Publications
    Corresponds to variant rs14422 [ dbSNP | Ensembl ].
    VAR_032583

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 628628Missing in isoform 2. 1 PublicationVSP_025922Add
    BLAST
    Alternative sequencei1 – 151151Missing in isoform 3. 1 PublicationVSP_038262Add
    BLAST
    Alternative sequencei629 – 66537SDVLP…PHTRA → MPASFPMLRCARSPCWTVCW SPWCRALPDGRCSCLSS in isoform 2. 1 PublicationVSP_025923Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS32765.2. [Q0VG06-1]
    RefSeqiNP_079437.5. NM_025161.5. [Q0VG06-1]
    XP_006722175.1. XM_006722112.1. [Q0VG06-3]
    UniGeneiHs.313905.

    Genome annotation databases

    EnsembliENST00000327787; ENSP00000333283; ENSG00000185504. [Q0VG06-1]
    GeneIDi80233.
    KEGGihsa:80233.
    UCSCiuc002kap.3. human. [Q0VG06-1]

    Polymorphism databases

    DMDMi313104237.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSi CCDS32765.2. [Q0VG06-1 ]
    RefSeqi NP_079437.5. NM_025161.5. [Q0VG06-1 ]
    XP_006722175.1. XM_006722112.1. [Q0VG06-3 ]
    UniGenei Hs.313905.

    3D structure databases

    ProteinModelPortali Q0VG06.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123196. 11 interactions.
    IntActi Q0VG06. 5 interactions.
    MINTi MINT-4789080.
    STRINGi 9606.ENSP00000333283.

    PTM databases

    PhosphoSitei Q0VG06.

    Polymorphism databases

    DMDMi 313104237.

    Proteomic databases

    MaxQBi Q0VG06.
    PaxDbi Q0VG06.
    PRIDEi Q0VG06.

    Protocols and materials databases

    DNASUi 80233.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000327787 ; ENSP00000333283 ; ENSG00000185504 . [Q0VG06-1 ]
    GeneIDi 80233.
    KEGGi hsa:80233.
    UCSCi uc002kap.3. human. [Q0VG06-1 ]

    Organism-specific databases

    CTDi 80233.
    GeneCardsi GC17M079506.
    HGNCi HGNC:26171. C17orf70.
    HPAi HPA023954.
    HPA024626.
    HPA026532.
    MIMi 611301. gene.
    neXtProti NX_Q0VG06.
    PharmGKBi PA142672253.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG40999.
    HOGENOMi HOG000112640.
    HOVERGENi HBG107926.
    InParanoidi Q0VG06.
    KOi K10993.
    OMAi IKASWDE.
    OrthoDBi EOG7WT40J.
    PhylomeDBi Q0VG06.
    TreeFami TF330817.

    Enzyme and pathway databases

    Reactomei REACT_18410. Fanconi Anemia pathway.

    Miscellaneous databases

    ChiTaRSi C17orf70. human.
    GenomeRNAii 80233.
    NextBioi 70677.
    PROi Q0VG06.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q0VG06.
    Bgeei Q0VG06.
    CleanExi HS_C17orf70.
    Genevestigatori Q0VG06.

    Family and domain databases

    InterProi IPR029251. Faap100.
    [Graphical view ]
    Pfami PF15146. FANCAA. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 482-881 (ISOFORMS 1/3).
      Tissue: Melanoma.
    6. Cited for: FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION IN THE FA CORE COMPLEX.
    7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-667, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.

    Entry informationi

    Entry nameiFP100_HUMAN
    AccessioniPrimary (citable) accession number: Q0VG06
    Secondary accession number(s): A6NNM1
    , Q8N3F7, Q9BV13, Q9H6K7, Q9H7E8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 29, 2007
    Last sequence update: November 30, 2010
    Last modified: October 1, 2014
    This is version 74 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3