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Q9BTP7

- FAP24_HUMAN

UniProt

Q9BTP7 - FAP24_HUMAN

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Protein

Fanconi anemia-associated protein of 24 kDa

Gene

FAAP24

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

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

GO - Biological processi

  1. DNA repair Source: Reactome
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ9BTP7.
CleanExiHS_C19orf40.
ExpressionAtlasiQ9BTP7. baseline and differential.
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.
GeneTreeiENSGT00390000009456.
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

        10         20         30         40         50
MEKNPPDDTG PVHVPLGHIV ANEKWRGSQL AQEMQGKIKL IFEDGLTPDF
60 70 80 90 100
YLSNRCCILY VTEADLVAGN GYRKRLVRVR NSNNLKGIVV VEKTRMSEQY
110 120 130 140 150
FPALQKFTVL DLGMVLLPVA SQMEASCLVI QLVQEQTKEP SKNPLLGKKR
160 170 180 190 200
ALLLSEPSLL RTVQQIPGVG KVKAPLLLQK FPSIQQLSNA SIGELEQVVG
210
QAVAQQIHAF FTQPR
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_152266.4.
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_152266.4.
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.
GeneTreei ENSGT00390000009456.
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

Bgeei Q9BTP7.
CleanExi HS_C19orf40.
ExpressionAtlasi Q9BTP7. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 102 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