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Q9BTP7 (FAP24_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Fanconi anemia-associated protein of 24 kDa
Gene names
Name:FAAP24
Synonyms:C19orf40
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length215 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.3

Subunit structure

Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9, FANCM and FAAP24. Interacts with FANCM. Ref.3

Subcellular location

Nucleus Ref.3.

Domain

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

Ontologies

Keywords
   Biological processDNA damage
DNA repair
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   LigandDNA-binding
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processDNA repair

Traceable author statement. Source: Reactome

   Cellular_componentFanconi anaemia nuclear complex

Inferred from direct assay PubMed 20347428PubMed 20347429. Source: UniProtKB

intracellular membrane-bounded organelle

Inferred from direct assay. Source: HPA

nucleoplasm

Traceable author statement. Source: Reactome

nucleus

Inferred from direct assay. Source: HPA

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

chromatin binding

Inferred from direct assay PubMed 20347429. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 215215Fanconi anemia-associated protein of 24 kDa
PRO_0000270961

Regions

Region160 – 21556RuvA domain 2-like

Natural variations

Natural variant1261S → F.
Corresponds to variant rs36017455 [ dbSNP | Ensembl ].
VAR_050989
Natural variant1581S → L.
Corresponds to variant rs2304103 [ dbSNP | Ensembl ].
VAR_029828
Natural variant1921I → T.
Corresponds to variant rs3816032 [ dbSNP | Ensembl ].
VAR_029829

Secondary structure

......................................... 215
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q9BTP7 [UniParc].

Last modified March 1, 2004. Version 2.
Checksum: 2CADEFE1A4536D4E

FASTA21523,897
        10         20         30         40         50         60 
MEKNPPDDTG PVHVPLGHIV ANEKWRGSQL AQEMQGKIKL IFEDGLTPDF YLSNRCCILY 

        70         80         90        100        110        120 
VTEADLVAGN GYRKRLVRVR NSNNLKGIVV VEKTRMSEQY FPALQKFTVL DLGMVLLPVA 

       130        140        150        160        170        180 
SQMEASCLVI QLVQEQTKEP SKNPLLGKKR ALLLSEPSLL RTVQQIPGVG KVKAPLLLQK 

       190        200        210 
FPSIQQLSNA SIGELEQVVG QAVAQQIHAF FTQPR 

« Hide

References

« Hide '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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK128668 mRNA. Translation: BAG54708.1.
BC003535 mRNA. Translation: AAH03535.2.
BC010170 mRNA. Translation: AAH10170.2.
BC020247 mRNA. Translation: AAH20247.1.
RefSeqNP_689479.1. NM_152266.3.
UniGeneHs.579899.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2LYHNMR-A139-215[»]
2M9MNMR-A1-139[»]
2M9NNMR-A155-215[»]
4BXOX-ray2.15B1-214[»]
4M6WX-ray2.90B17-215[»]
ProteinModelPortalQ9BTP7.
SMRQ9BTP7. Positions 1-215.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124833. 15 interactions.
DIPDIP-50466N.
STRING9606.ENSP00000254262.

PTM databases

PhosphoSiteQ9BTP7.

Polymorphism databases

DMDM74733136.

Proteomic databases

PaxDbQ9BTP7.
PRIDEQ9BTP7.

Protocols and materials databases

DNASU91442.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000588258; ENSP00000466121; ENSG00000131944.
ENST00000590281; ENSP00000468475; ENSG00000131944.
GeneID91442.
KEGGhsa:91442.
UCSCuc002nud.4. human.

Organism-specific databases

CTD91442.
GeneCardsGC19P033463.
HGNCHGNC:28467. C19orf40.
HPAHPA041168.
MIM610884. gene.
neXtProtNX_Q9BTP7.
PharmGKBPA144596473.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG331628.
HOGENOMHOG000007492.
HOVERGENHBG056745.
InParanoidQ9BTP7.
KOK10898.
OMACILYVTE.
OrthoDBEOG7V1FRZ.
PhylomeDBQ9BTP7.

Enzyme and pathway databases

ReactomeREACT_216. DNA Repair.

Gene expression databases

ArrayExpressQ9BTP7.
BgeeQ9BTP7.
CleanExHS_C19orf40.
GenevestigatorQ9BTP7.

Family and domain databases

InterProIPR026985. FAAP24.
IPR010994. RuvA_2-like.
[Graphical view]
PANTHERPTHR31786. PTHR31786. 1 hit.
SUPFAMSSF47781. SSF47781. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi91442.
NextBio77250.
PROQ9BTP7.
SOURCESearch...

Entry information

Entry nameFAP24_HUMAN
AccessionPrimary (citable) accession number: Q9BTP7
Secondary accession number(s): B3KY46, Q8WUJ7, Q96FX6
Entry history
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: March 1, 2004
Last modified: April 16, 2014
This is version 96 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM