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Protein

Fanconi anemia core complex-associated protein 24

Gene

FAAP24

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • chromatin binding Source: UniProtKB
  • DNA binding Source: UniProtKB-KW

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processDNA damage, DNA repair

Enzyme and pathway databases

ReactomeiR-HSA-6783310 Fanconi Anemia Pathway

Names & Taxonomyi

Protein namesi
Recommended name:
Fanconi anemia core complex-associated protein 241 PublicationImported
Alternative name(s):
Fanconi anemia-associated protein of 24 kDa
Gene namesi
Name:FAAP241 PublicationImported
Synonyms:C19orf40
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000131944.9
HGNCiHGNC:28467 FAAP24
MIMi610884 gene
neXtProtiNX_Q9BTP7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi91442
OpenTargetsiENSG00000131944
PharmGKBiPA144596473

Polymorphism and mutation databases

BioMutaiFAAP24
DMDMi74733136

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002709611 – 215Fanconi anemia core complex-associated protein 24Add BLAST215

Proteomic databases

MaxQBiQ9BTP7
PaxDbiQ9BTP7
PeptideAtlasiQ9BTP7
PRIDEiQ9BTP7
ProteomicsDBi79004

PTM databases

iPTMnetiQ9BTP7
PhosphoSitePlusiQ9BTP7

Expressioni

Gene expression databases

BgeeiENSG00000131944 Expressed in 178 organ(s), highest expression level in buccal mucosa cell
CleanExiHS_C19orf40
ExpressionAtlasiQ9BTP7 baseline and differential
GenevisibleiQ9BTP7 HS

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

Binary interactionsi

Protein-protein interaction databases

BioGridi124833, 17 interactors
DIPiDIP-50466N
IntActiQ9BTP7, 8 interactors
STRINGi9606.ENSP00000466121

Structurei

Secondary structure

1215
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9BTP7
SMRiQ9BTP7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni160 – 215RuvA domain 2-likeAdd BLAST56

Domaini

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

Phylogenomic databases

eggNOGiKOG2841 Eukaryota
COG5241 LUCA
GeneTreeiENSGT00390000009456
HOGENOMiHOG000007492
HOVERGENiHBG056745
InParanoidiQ9BTP7
KOiK10898
OMAiAIQKFTV
OrthoDBiEOG091G11EV
PhylomeDBiQ9BTP7

Family and domain databases

InterProiView protein in InterPro
IPR026985 FAAP24
IPR010994 RuvA_2-like
PANTHERiPTHR31786 PTHR31786, 1 hit
SUPFAMiSSF47781 SSF47781, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EKQ4K7EKQ4_HUMAN
Fanconi anemia core complex-associa...
FAAP24
120Annotation score:
X6R368X6R368_HUMAN
Chromosome 19 open reading frame 40...
FAAP24 C19orf40
69Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050989126S → F. Corresponds to variant dbSNP:rs36017455Ensembl.1
Natural variantiVAR_029828158S → L. Corresponds to variant dbSNP:rs2304103Ensembl.1
Natural variantiVAR_029829192I → T. Corresponds to variant dbSNP:rs3816032Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001287907.1, NM_001300978.1
NP_689479.1, NM_152266.4
UniGeneiHs.579899

Genome annotation databases

EnsembliENST00000588258; ENSP00000466121; ENSG00000131944
ENST00000590281; ENSP00000468475; ENSG00000131944
GeneIDi91442
KEGGihsa:91442
UCSCiuc002nud.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001287907.1, NM_001300978.1
NP_689479.1, NM_152266.4
UniGeneiHs.579899

3D structure databases

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

Protein-protein interaction databases

BioGridi124833, 17 interactors
DIPiDIP-50466N
IntActiQ9BTP7, 8 interactors
STRINGi9606.ENSP00000466121

PTM databases

iPTMnetiQ9BTP7
PhosphoSitePlusiQ9BTP7

Polymorphism and mutation databases

BioMutaiFAAP24
DMDMi74733136

Proteomic databases

MaxQBiQ9BTP7
PaxDbiQ9BTP7
PeptideAtlasiQ9BTP7
PRIDEiQ9BTP7
ProteomicsDBi79004

Protocols and materials databases

DNASUi91442
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000588258; ENSP00000466121; ENSG00000131944
ENST00000590281; ENSP00000468475; ENSG00000131944
GeneIDi91442
KEGGihsa:91442
UCSCiuc002nud.5 human

Organism-specific databases

CTDi91442
DisGeNETi91442
EuPathDBiHostDB:ENSG00000131944.9
GeneCardsiFAAP24
HGNCiHGNC:28467 FAAP24
HPAiHPA041168
MIMi610884 gene
neXtProtiNX_Q9BTP7
OpenTargetsiENSG00000131944
PharmGKBiPA144596473
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2841 Eukaryota
COG5241 LUCA
GeneTreeiENSGT00390000009456
HOGENOMiHOG000007492
HOVERGENiHBG056745
InParanoidiQ9BTP7
KOiK10898
OMAiAIQKFTV
OrthoDBiEOG091G11EV
PhylomeDBiQ9BTP7

Enzyme and pathway databases

ReactomeiR-HSA-6783310 Fanconi Anemia Pathway

Miscellaneous databases

GenomeRNAii91442
PROiPR:Q9BTP7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000131944 Expressed in 178 organ(s), highest expression level in buccal mucosa cell
CleanExiHS_C19orf40
ExpressionAtlasiQ9BTP7 baseline and differential
GenevisibleiQ9BTP7 HS

Family and domain databases

InterProiView protein in InterPro
IPR026985 FAAP24
IPR010994 RuvA_2-like
PANTHERiPTHR31786 PTHR31786, 1 hit
SUPFAMiSSF47781 SSF47781, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiFAP24_HUMAN
AccessioniPrimary (citable) accession number: Q9BTP7
Secondary accession number(s): B3KY46, Q8WUJ7, Q96FX6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: March 1, 2004
Last modified: September 12, 2018
This is version 132 of the entry and version 2 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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