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Q9BTP7

- FAP24_HUMAN

UniProt

Q9BTP7 - FAP24_HUMAN

Protein

Fanconi anemia-associated protein of 24 kDa

Gene

FAAP24

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 101 (01 Oct 2014)
      Sequence version 2 (01 Mar 2004)
      Previous versions | rss
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    Functioni

    Plays a role in DNA repair through recruitment of the FA core complex to damaged DNA. Regulates FANCD2 monoubiquitination upon DNA damage. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed. Targets FANCM/FAAP24 complex to the DNA, preferentially to single strand DNA.1 Publication

    GO - Molecular functioni

    1. chromatin binding Source: UniProtKB
    2. DNA binding Source: UniProtKB-KW
    3. protein binding Source: UniProtKB

    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 24 kDa
    Gene namesi
    Name:FAAP24
    Synonyms:C19orf40
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:28467. C19orf40.

    Subcellular locationi

    Nucleus 1 Publication

    GO - Cellular componenti

    1. Fanconi anaemia nuclear complex Source: UniProtKB
    2. intracellular membrane-bounded organelle Source: HPA
    3. nucleoplasm Source: Reactome
    4. nucleus Source: HPA

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA144596473.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 215215Fanconi anemia-associated protein of 24 kDaPRO_0000270961Add
    BLAST

    Proteomic databases

    MaxQBiQ9BTP7.
    PaxDbiQ9BTP7.
    PRIDEiQ9BTP7.

    PTM databases

    PhosphoSiteiQ9BTP7.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9BTP7.
    BgeeiQ9BTP7.
    CleanExiHS_C19orf40.
    GenevestigatoriQ9BTP7.

    Organism-specific databases

    HPAiHPA041168.

    Interactioni

    Subunit structurei

    Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9, FANCM and FAAP24. Interacts with FANCM.1 Publication

    Protein-protein interaction databases

    BioGridi124833. 15 interactions.
    DIPiDIP-50466N.
    IntActiQ9BTP7. 1 interaction.
    STRINGi9606.ENSP00000254262.

    Structurei

    Secondary structure

    1
    215
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi15 – 173
    Beta strandi18 – 225
    Helixi23 – 253
    Helixi29 – 357
    Beta strandi38 – 458
    Beta strandi47 – 6115
    Helixi63 – 686
    Helixi73 – 808
    Beta strandi82 – 843
    Beta strandi86 – 927
    Turni95 – 973
    Helixi98 – 1003
    Helixi101 – 1099
    Beta strandi115 – 1217
    Helixi122 – 13716
    Helixi140 – 1423
    Helixi156 – 1638
    Turni167 – 1693
    Helixi173 – 1808
    Beta strandi181 – 1833
    Helixi184 – 1885
    Helixi192 – 1954
    Turni196 – 1983
    Helixi201 – 21212

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2LYHNMR-A139-215[»]
    2M9MNMR-A1-139[»]
    2M9NNMR-A155-215[»]
    4BXOX-ray2.15B1-214[»]
    4M6WX-ray2.90B17-215[»]
    ProteinModelPortaliQ9BTP7.
    SMRiQ9BTP7. Positions 1-215.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni160 – 21556RuvA domain 2-likeAdd
    BLAST

    Domaini

    The C-terminal region is distantly related to RuvA domain 2, a DNA-binding domain.

    Phylogenomic databases

    eggNOGiNOG331628.
    HOGENOMiHOG000007492.
    HOVERGENiHBG056745.
    InParanoidiQ9BTP7.
    KOiK10898.
    OMAiAIQKFTV.
    OrthoDBiEOG7V1FRZ.
    PhylomeDBiQ9BTP7.

    Family and domain databases

    InterProiIPR026985. FAAP24.
    IPR010994. RuvA_2-like.
    [Graphical view]
    PANTHERiPTHR31786. PTHR31786. 1 hit.
    SUPFAMiSSF47781. SSF47781. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q9BTP7-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEKNPPDDTG PVHVPLGHIV ANEKWRGSQL AQEMQGKIKL IFEDGLTPDF    50
    YLSNRCCILY VTEADLVAGN GYRKRLVRVR NSNNLKGIVV VEKTRMSEQY 100
    FPALQKFTVL DLGMVLLPVA SQMEASCLVI QLVQEQTKEP SKNPLLGKKR 150
    ALLLSEPSLL RTVQQIPGVG KVKAPLLLQK FPSIQQLSNA SIGELEQVVG 200
    QAVAQQIHAF FTQPR 215
    Length:215
    Mass (Da):23,897
    Last modified:March 1, 2004 - v2
    Checksum:i2CADEFE1A4536D4E
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti126 – 1261S → F.
    Corresponds to variant rs36017455 [ dbSNP | Ensembl ].
    VAR_050989
    Natural varianti158 – 1581S → L.
    Corresponds to variant rs2304103 [ dbSNP | Ensembl ].
    VAR_029828
    Natural varianti192 – 1921I → T.
    Corresponds to variant rs3816032 [ dbSNP | Ensembl ].
    VAR_029829

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK128668 mRNA. Translation: BAG54708.1.
    BC003535 mRNA. Translation: AAH03535.2.
    BC010170 mRNA. Translation: AAH10170.2.
    BC020247 mRNA. Translation: AAH20247.1.
    CCDSiCCDS12426.1.
    RefSeqiNP_689479.1. NM_152266.3.
    UniGeneiHs.579899.

    Genome annotation databases

    EnsembliENST00000588258; ENSP00000466121; ENSG00000131944.
    ENST00000590281; ENSP00000468475; ENSG00000131944.
    GeneIDi91442.
    KEGGihsa:91442.
    UCSCiuc002nud.4. human.

    Polymorphism databases

    DMDMi74733136.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK128668 mRNA. Translation: BAG54708.1 .
    BC003535 mRNA. Translation: AAH03535.2 .
    BC010170 mRNA. Translation: AAH10170.2 .
    BC020247 mRNA. Translation: AAH20247.1 .
    CCDSi CCDS12426.1.
    RefSeqi NP_689479.1. NM_152266.3.
    UniGenei Hs.579899.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2LYH NMR - A 139-215 [» ]
    2M9M NMR - A 1-139 [» ]
    2M9N NMR - A 155-215 [» ]
    4BXO X-ray 2.15 B 1-214 [» ]
    4M6W X-ray 2.90 B 17-215 [» ]
    ProteinModelPortali Q9BTP7.
    SMRi Q9BTP7. Positions 1-215.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124833. 15 interactions.
    DIPi DIP-50466N.
    IntActi Q9BTP7. 1 interaction.
    STRINGi 9606.ENSP00000254262.

    PTM databases

    PhosphoSitei Q9BTP7.

    Polymorphism databases

    DMDMi 74733136.

    Proteomic databases

    MaxQBi Q9BTP7.
    PaxDbi Q9BTP7.
    PRIDEi Q9BTP7.

    Protocols and materials databases

    DNASUi 91442.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000588258 ; ENSP00000466121 ; ENSG00000131944 .
    ENST00000590281 ; ENSP00000468475 ; ENSG00000131944 .
    GeneIDi 91442.
    KEGGi hsa:91442.
    UCSCi uc002nud.4. human.

    Organism-specific databases

    CTDi 91442.
    GeneCardsi GC19P033463.
    HGNCi HGNC:28467. C19orf40.
    HPAi HPA041168.
    MIMi 610884. gene.
    neXtProti NX_Q9BTP7.
    PharmGKBi PA144596473.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG331628.
    HOGENOMi HOG000007492.
    HOVERGENi HBG056745.
    InParanoidi Q9BTP7.
    KOi K10898.
    OMAi AIQKFTV.
    OrthoDBi EOG7V1FRZ.
    PhylomeDBi Q9BTP7.

    Enzyme and pathway databases

    Reactomei REACT_18410. Fanconi Anemia pathway.

    Miscellaneous databases

    GenomeRNAii 91442.
    NextBioi 77250.
    PROi Q9BTP7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BTP7.
    Bgeei Q9BTP7.
    CleanExi HS_C19orf40.
    Genevestigatori Q9BTP7.

    Family and domain databases

    InterProi IPR026985. FAAP24.
    IPR010994. RuvA_2-like.
    [Graphical view ]
    PANTHERi PTHR31786. PTHR31786. 1 hit.
    SUPFAMi SSF47781. SSF47781. 1 hit.
    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].
      Tissue: Uterus.
    2. "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].
      Tissue: Skin and Uterus.
    3. "Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM."
      Ciccia A., Ling C., Coulthard R., Yan Z., Xue Y., Meetei A.R., Laghmani el H., Joenje H., McDonald N., de Winter J.P., Wang W., West S.C.
      Mol. Cell 25:331-343(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE FA CORE COMPLEX.

    Entry informationi

    Entry nameiFAP24_HUMAN
    AccessioniPrimary (citable) accession number: Q9BTP7
    Secondary accession number(s): B3KY46, Q8WUJ7, Q96FX6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 9, 2007
    Last sequence update: March 1, 2004
    Last modified: October 1, 2014
    This is version 101 of the entry and version 2 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: 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
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references

    External Data

    Dasty 3