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Protein

Fanconi anemia core complex-associated protein 24

Gene

FAAP24

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

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

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

DNA damage, DNA repair

Keywords - Ligandi

DNA-binding

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

HGNCiHGNC:28467. FAAP24.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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.

PTM databases

iPTMnetiQ9BTP7.
PhosphoSitePlusiQ9BTP7.

Expressioni

Gene expression databases

BgeeiENSG00000131944.
CleanExiHS_C19orf40.
ExpressionAtlasiQ9BTP7. baseline and differential.
GenevisibleiQ9BTP7. HS.

Organism-specific databases

HPAiHPA041168.
HPA055664.

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 interactors.
DIPiDIP-50466N.
IntActiQ9BTP7. 2 interactors.
STRINGi9606.ENSP00000466121.

Structurei

Secondary structure

1215
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi15 – 17Combined sources3
Beta strandi18 – 22Combined sources5
Helixi23 – 25Combined sources3
Helixi29 – 35Combined sources7
Beta strandi38 – 45Combined sources8
Beta strandi47 – 61Combined sources15
Helixi63 – 68Combined sources6
Helixi73 – 80Combined sources8
Beta strandi82 – 84Combined sources3
Beta strandi86 – 92Combined sources7
Turni95 – 97Combined sources3
Helixi98 – 100Combined sources3
Helixi101 – 109Combined sources9
Beta strandi115 – 121Combined sources7
Helixi122 – 137Combined sources16
Helixi140 – 142Combined sources3
Helixi156 – 163Combined sources8
Turni167 – 169Combined sources3
Helixi173 – 180Combined sources8
Beta strandi181 – 183Combined sources3
Helixi184 – 188Combined sources5
Helixi192 – 195Combined sources4
Turni196 – 198Combined sources3
Helixi201 – 212Combined sources12

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...

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

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_050989126S → F.Corresponds to variant rs36017455dbSNPEnsembl.1
Natural variantiVAR_029828158S → L.Corresponds to variant rs2304103dbSNPEnsembl.1
Natural variantiVAR_029829192I → T.Corresponds to variant rs3816032dbSNPEnsembl.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

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. 15 interactors.
DIPiDIP-50466N.
IntActiQ9BTP7. 2 interactors.
STRINGi9606.ENSP00000466121.

PTM databases

iPTMnetiQ9BTP7.
PhosphoSitePlusiQ9BTP7.

Polymorphism and mutation databases

BioMutaiFAAP24.
DMDMi74733136.

Proteomic databases

MaxQBiQ9BTP7.
PaxDbiQ9BTP7.
PeptideAtlasiQ9BTP7.
PRIDEiQ9BTP7.

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.
GeneCardsiC19orf40.
HGNCiHGNC:28467. FAAP24.
HPAiHPA041168.
HPA055664.
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.
PROiQ9BTP7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000131944.
CleanExiHS_C19orf40.
ExpressionAtlasiQ9BTP7. baseline and differential.
GenevisibleiQ9BTP7. HS.

Family and domain databases

InterProiIPR026985. FAAP24.
IPR010994. RuvA_2-like.
[Graphical view]
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 historyi
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: March 1, 2004
Last modified: November 2, 2016
This is version 121 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.