FAP24_HUMAN
ID FAP24_HUMAN Reviewed; 215 AA.
AC Q9BTP7; B3KY46; Q8WUJ7; Q96FX6;
DT 09-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2004, sequence version 2.
DT 03-AUG-2022, entry version 152.
DE RecName: Full=Fanconi anemia core complex-associated protein 24 {ECO:0000303|PubMed:17289582, ECO:0000312|HGNC:HGNC:28467};
DE AltName: Full=Fanconi anemia-associated protein of 24 kDa;
GN Name=FAAP24 {ECO:0000303|PubMed:17289582, ECO:0000312|HGNC:HGNC:28467};
GN Synonyms=C19orf40;
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].
RC TISSUE=Uterus;
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 MRNA].
RC TISSUE=Skin, and Uterus;
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 [3]
RP FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION BY MASS SPECTROMETRY, AND
RP IDENTIFICATION IN THE FA CORE COMPLEX.
RX PubMed=17289582; DOI=10.1016/j.molcel.2007.01.003;
RA Ciccia A., Ling C., Coulthard R., Yan Z., Xue Y., Meetei A.R.,
RA Laghmani el H., Joenje H., McDonald N., de Winter J.P., Wang W., West S.C.;
RT "Identification of FAAP24, a Fanconi anemia core complex protein that
RT interacts with FANCM.";
RL Mol. Cell 25:331-343(2007).
CC -!- FUNCTION: Plays a role in DNA repair through recruitment of the FA core
CC complex to damaged DNA. Regulates FANCD2 monoubiquitination upon DNA
CC damage. Induces chromosomal instability as well as hypersensitivity to
CC DNA cross-linking agents, when repressed. Targets FANCM/FAAP24 complex
CC to the DNA, preferentially to single strand DNA.
CC {ECO:0000269|PubMed:17289582}.
CC -!- SUBUNIT: Belongs to the multisubunit FA complex composed of FANCA,
CC FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9, FANCM and FAAP24.
CC Interacts with FANCM. {ECO:0000269|PubMed:17289582}.
CC -!- INTERACTION:
CC Q9BTP7; Q8IYD8: FANCM; NbExp=10; IntAct=EBI-1045650, EBI-3957237;
CC Q9BTP7; Q8IYD8-1: FANCM; NbExp=2; IntAct=EBI-1045650, EBI-16067666;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17289582}.
CC -!- DOMAIN: The C-terminal region is distantly related to RuvA domain 2, a
CC DNA-binding domain.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK128668; BAG54708.1; -; mRNA.
DR EMBL; BC003535; AAH03535.2; -; mRNA.
DR EMBL; BC010170; AAH10170.2; -; mRNA.
DR EMBL; BC020247; AAH20247.1; -; mRNA.
DR CCDS; CCDS12426.1; -.
DR RefSeq; NP_001287907.1; NM_001300978.1.
DR RefSeq; NP_689479.1; NM_152266.4.
DR PDB; 2LYH; NMR; -; A=139-215.
DR PDB; 2M9M; NMR; -; A=1-139.
DR PDB; 2M9N; NMR; -; A=155-215.
DR PDB; 4BXO; X-ray; 2.15 A; B=1-214.
DR PDB; 4M6W; X-ray; 2.90 A; B=17-215.
DR PDBsum; 2LYH; -.
DR PDBsum; 2M9M; -.
DR PDBsum; 2M9N; -.
DR PDBsum; 4BXO; -.
DR PDBsum; 4M6W; -.
DR AlphaFoldDB; Q9BTP7; -.
DR BMRB; Q9BTP7; -.
DR SMR; Q9BTP7; -.
DR BioGRID; 124833; 23.
DR ComplexPortal; CPX-6266; Fanconi anemia FANCM-FAAP24-MHF anchoring complex.
DR CORUM; Q9BTP7; -.
DR DIP; DIP-50466N; -.
DR IntAct; Q9BTP7; 8.
DR STRING; 9606.ENSP00000466121; -.
DR iPTMnet; Q9BTP7; -.
DR PhosphoSitePlus; Q9BTP7; -.
DR BioMuta; FAAP24; -.
DR DMDM; 74733136; -.
DR jPOST; Q9BTP7; -.
DR MassIVE; Q9BTP7; -.
DR MaxQB; Q9BTP7; -.
DR PaxDb; Q9BTP7; -.
DR PeptideAtlas; Q9BTP7; -.
DR PRIDE; Q9BTP7; -.
DR ProteomicsDB; 79004; -.
DR Antibodypedia; 47946; 40 antibodies from 13 providers.
DR DNASU; 91442; -.
DR Ensembl; ENST00000588258.6; ENSP00000466121.1; ENSG00000131944.10.
DR Ensembl; ENST00000590281.1; ENSP00000468475.1; ENSG00000131944.10.
DR GeneID; 91442; -.
DR KEGG; hsa:91442; -.
DR MANE-Select; ENST00000588258.6; ENSP00000466121.1; NM_152266.5; NP_689479.1.
DR UCSC; uc002nud.5; human.
DR CTD; 91442; -.
DR DisGeNET; 91442; -.
DR GeneCards; FAAP24; -.
DR HGNC; HGNC:28467; FAAP24.
DR HPA; ENSG00000131944; Low tissue specificity.
DR MIM; 610884; gene.
DR neXtProt; NX_Q9BTP7; -.
DR OpenTargets; ENSG00000131944; -.
DR PharmGKB; PA144596473; -.
DR VEuPathDB; HostDB:ENSG00000131944; -.
DR eggNOG; KOG2841; Eukaryota.
DR GeneTree; ENSGT00390000009456; -.
DR HOGENOM; CLU_111628_0_0_1; -.
DR InParanoid; Q9BTP7; -.
DR OMA; RHFSSIQ; -.
DR OrthoDB; 1471232at2759; -.
DR PhylomeDB; Q9BTP7; -.
DR PathwayCommons; Q9BTP7; -.
DR Reactome; R-HSA-6783310; Fanconi Anemia Pathway.
DR SignaLink; Q9BTP7; -.
DR SIGNOR; Q9BTP7; -.
DR BioGRID-ORCS; 91442; 128 hits in 1051 CRISPR screens.
DR GenomeRNAi; 91442; -.
DR Pharos; Q9BTP7; Tbio.
DR PRO; PR:Q9BTP7; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q9BTP7; protein.
DR Bgee; ENSG00000131944; Expressed in buccal mucosa cell and 156 other tissues.
DR ExpressionAtlas; Q9BTP7; baseline and differential.
DR Genevisible; Q9BTP7; HS.
DR GO; GO:0000785; C:chromatin; IDA:ComplexPortal.
DR GO; GO:0071821; C:FANCM-MHF complex; IPI:ComplexPortal.
DR GO; GO:0043240; C:Fanconi anaemia nuclear complex; IDA:UniProtKB.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0003682; F:chromatin binding; IDA:UniProtKB.
DR GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR GO; GO:0036297; P:interstrand cross-link repair; IDA:ComplexPortal.
DR InterPro; IPR041663; DisA/LigA_HHH.
DR InterPro; IPR026985; FAAP24.
DR InterPro; IPR040646; PND.
DR InterPro; IPR010994; RuvA_2-like.
DR PANTHER; PTHR31786; PTHR31786; 1.
DR Pfam; PF12826; HHH_2; 1.
DR Pfam; PF17949; PND; 1.
DR SUPFAM; SSF47781; SSF47781; 1.
PE 1: Evidence at protein level;
KW 3D-structure; DNA damage; DNA repair; DNA-binding; Nucleus;
KW Reference proteome.
FT CHAIN 1..215
FT /note="Fanconi anemia core complex-associated protein 24"
FT /id="PRO_0000270961"
FT REGION 160..215
FT /note="RuvA domain 2-like"
FT VARIANT 126
FT /note="S -> F (in dbSNP:rs36017455)"
FT /id="VAR_050989"
FT VARIANT 158
FT /note="S -> L (in dbSNP:rs2304103)"
FT /id="VAR_029828"
FT VARIANT 192
FT /note="I -> T (in dbSNP:rs3816032)"
FT /id="VAR_029829"
FT STRAND 15..17
FT /evidence="ECO:0007829|PDB:2M9M"
FT STRAND 18..22
FT /evidence="ECO:0007829|PDB:4BXO"
FT HELIX 23..25
FT /evidence="ECO:0007829|PDB:4BXO"
FT HELIX 29..35
FT /evidence="ECO:0007829|PDB:4BXO"
FT STRAND 38..45
FT /evidence="ECO:0007829|PDB:4BXO"
FT STRAND 47..61
FT /evidence="ECO:0007829|PDB:4BXO"
FT HELIX 63..68
FT /evidence="ECO:0007829|PDB:4BXO"
FT HELIX 73..80
FT /evidence="ECO:0007829|PDB:4BXO"
FT STRAND 82..84
FT /evidence="ECO:0007829|PDB:4M6W"
FT STRAND 86..92
FT /evidence="ECO:0007829|PDB:4BXO"
FT TURN 95..97
FT /evidence="ECO:0007829|PDB:4BXO"
FT HELIX 98..100
FT /evidence="ECO:0007829|PDB:4BXO"
FT HELIX 101..109
FT /evidence="ECO:0007829|PDB:4BXO"
FT STRAND 115..121
FT /evidence="ECO:0007829|PDB:4BXO"
FT HELIX 122..137
FT /evidence="ECO:0007829|PDB:4BXO"
FT HELIX 140..142
FT /evidence="ECO:0007829|PDB:4BXO"
FT HELIX 156..163
FT /evidence="ECO:0007829|PDB:4BXO"
FT TURN 167..169
FT /evidence="ECO:0007829|PDB:2LYH"
FT HELIX 173..180
FT /evidence="ECO:0007829|PDB:4BXO"
FT STRAND 181..183
FT /evidence="ECO:0007829|PDB:2LYH"
FT HELIX 184..188
FT /evidence="ECO:0007829|PDB:4BXO"
FT HELIX 192..195
FT /evidence="ECO:0007829|PDB:4BXO"
FT TURN 196..198
FT /evidence="ECO:0007829|PDB:4BXO"
FT HELIX 201..212
FT /evidence="ECO:0007829|PDB:4BXO"
SQ SEQUENCE 215 AA; 23897 MW; 2CADEFE1A4536D4E CRC64;
MEKNPPDDTG PVHVPLGHIV ANEKWRGSQL AQEMQGKIKL IFEDGLTPDF YLSNRCCILY
VTEADLVAGN GYRKRLVRVR NSNNLKGIVV VEKTRMSEQY FPALQKFTVL DLGMVLLPVA
SQMEASCLVI QLVQEQTKEP SKNPLLGKKR ALLLSEPSLL RTVQQIPGVG KVKAPLLLQK
FPSIQQLSNA SIGELEQVVG QAVAQQIHAF FTQPR
