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Protein

Fanconi anemia group J protein

Gene

BRIP1

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

Functioni

DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1.4 Publications

Catalytic activityi

ATP + H2O = ADP + phosphate.

Cofactori

[4Fe-4S] cluster1 PublicationNote: Binds 1 [4Fe-4S] cluster.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi283Iron-sulfur (4Fe-4S)By similarity1
Metal bindingi298Iron-sulfur (4Fe-4S)By similarity1
Metal bindingi310Iron-sulfur (4Fe-4S)By similarity1
Metal bindingi350Iron-sulfur (4Fe-4S)By similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi185 – 192ATPPROSITE-ProRule annotation8

GO - Molecular functioni

  • 4 iron, 4 sulfur cluster binding Source: UniProtKB-KW
  • ATP binding Source: UniProtKB-KW
  • ATP-dependent DNA helicase activity Source: UniProtKB
  • DNA binding Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Helicase, Hydrolase

Keywords - Biological processi

DNA damage, DNA repair

Keywords - Ligandi

4Fe-4S, ATP-binding, Iron, Iron-sulfur, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000136492-MONOMER.
BRENDAi3.6.4.12. 2681.
ReactomeiR-HSA-2564830. Cytosolic iron-sulfur cluster assembly.
R-HSA-5685938. HDR through Single Strand Annealing (SSA).
R-HSA-5685942. HDR through Homologous Recombination (HRR).
R-HSA-5693554. Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA).
R-HSA-5693568. Resolution of D-loop Structures through Holliday Junction Intermediates.
R-HSA-5693579. Homologous DNA Pairing and Strand Exchange.
R-HSA-5693607. Processing of DNA double-strand break ends.
R-HSA-5693616. Presynaptic phase of homologous DNA pairing and strand exchange.
R-HSA-6804756. Regulation of TP53 Activity through Phosphorylation.
R-HSA-69473. G2/M DNA damage checkpoint.
SignaLinkiQ9BX63.

Names & Taxonomyi

Protein namesi
Recommended name:
Fanconi anemia group J protein (EC:3.6.4.13)
Short name:
Protein FACJ
Alternative name(s):
ATP-dependent RNA helicase BRIP1
BRCA1-associated C-terminal helicase 1
BRCA1-interacting protein C-terminal helicase 1
Short name:
BRCA1-interacting protein 1
Gene namesi
Name:BRIP1
Synonyms:BACH1, FANCJ
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:20473. BRIP1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: MGI
  • nuclear membrane Source: HPA
  • nucleoplasm Source: Reactome
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Breast cancer (BC)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
See also OMIM:114480
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02089647P → A in BC; early onset; loss of ATPase and helicase activities. 2 PublicationsCorresponds to variant rs28903098dbSNPEnsembl.1
Natural variantiVAR_020900299M → I in BC; early onset; reduces helicase efficiency on longer substrates. 2 Publications1
Fanconi anemia complementation group J (FANCJ)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
See also OMIM:609054
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023700255Q → H in FANCJ. 1 Publication1
Natural variantiVAR_023702349A → P in FANCJ; destabilizes iron-sulfur-binding and abolishes helicase activity. 2 Publications1
Natural variantiVAR_023703647W → C in FANCJ; associated with C-707. 1 Publication1
Natural variantiVAR_023704707R → C in FANCJ; associated with C-647. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi52K → R: Disrupts BRCA1-mediated double-strand break repair. Loss of ATPase and DNA helicase activities. 3 Publications1
Mutagenesisi986S → A: Does not affect the interaction with BRCA1. 1 Publication1
Mutagenesisi988S → A: Does not affect the interaction with BRCA1. 1 Publication1
Mutagenesisi989T → A: Does not affect the interaction with BRCA1. 1 Publication1
Mutagenesisi990S → A: Disrupts the interaction with BRCA1. 1 Publication1
Mutagenesisi991P → A: Abolishes phosphorylation of S-990. Impairs the interaction with BRCA1. 1 Publication1
Mutagenesisi992T → A: Does not affect the interaction with BRCA1. 1 Publication1
Mutagenesisi993F → A: Abolishes phosphorylation of S-990. Impairs the interaction with BRCA1. 1 Publication1
Mutagenesisi997T → A: Does not affect the interaction with BRCA1. 1 Publication1
Mutagenesisi1001S → A: Does not affect the interaction with BRCA1. 1 Publication1
Mutagenesisi1003S → A: Does not affect the interaction with BRCA1. 1 Publication1
Mutagenesisi1004S → A: Does not affect the interaction with BRCA1. 1 Publication1
Mutagenesisi1007S → A: Does not affect the interaction with BRCA1. 1 Publication1
Mutagenesisi1011Y → A: Does not affect the interaction with BRCA1. 1 Publication1
Mutagenesisi1013T → A: Does not affect the interaction with BRCA1. 1 Publication1

Keywords - Diseasei

Disease mutation, Fanconi anemia

Organism-specific databases

DisGeNETi83990.
MalaCardsiBRIP1.
MIMi114480. phenotype.
609054. phenotype.
Orphaneti84. Fanconi anemia.
145. Hereditary breast and ovarian cancer syndrome.
PharmGKBiPA134906421.

Polymorphism and mutation databases

BioMutaiBRIP1.
DMDMi57012613.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000551731 – 1249Fanconi anemia group J proteinAdd BLAST1249

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei505PhosphoserineCombined sources1
Modified residuei927PhosphoserineCombined sources1
Modified residuei930PhosphoserineCombined sources1
Modified residuei956PhosphoserineCombined sources1
Modified residuei990PhosphoserineCombined sources1 Publication1
Modified residuei1004PhosphoserineCombined sources1
Modified residuei1032PhosphoserineCombined sources1
Modified residuei1237PhosphoserineCombined sources1
Modified residuei1249N6-acetyllysine1 Publication1

Post-translational modificationi

Phosphorylated. Phosphorylation is necessary for interaction with BRCA1, and is cell-cycle regulated.1 Publication
Acetylation at Lys-1249 facilitates DNA end processing required for repair and checkpoint signaling.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9BX63.
MaxQBiQ9BX63.
PaxDbiQ9BX63.
PeptideAtlasiQ9BX63.
PRIDEiQ9BX63.

PTM databases

iPTMnetiQ9BX63.
PhosphoSitePlusiQ9BX63.

Expressioni

Tissue specificityi

Ubiquitously expressed, with highest levels in testis.1 Publication

Gene expression databases

BgeeiENSG00000136492.
CleanExiHS_BACH1.
HS_BRIP1.
ExpressionAtlasiQ9BX63. baseline and differential.
GenevisibleiQ9BX63. HS.

Organism-specific databases

HPAiHPA005474.

Interactioni

Subunit structurei

Binds directly to the BRCT domains of BRCA1.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
BLMP5413216EBI-3509650,EBI-621372
BRCA1P3839812EBI-3509650,EBI-349905
MLH1P4069211EBI-3509650,EBI-744248

Protein-protein interaction databases

BioGridi123841. 29 interactors.
DIPiDIP-41787N.
IntActiQ9BX63. 6 interactors.
MINTiMINT-275883.
STRINGi9606.ENSP00000259008.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1T15X-ray1.85B988-995[»]
1T29X-ray2.30B985-998[»]
3AL3X-ray2.15B1129-1138[»]
ProteinModelPortaliQ9BX63.
SMRiQ9BX63.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9BX63.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini11 – 442Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST432

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni888 – 1063Interaction with BRCA11 PublicationAdd BLAST176

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi158 – 175Nuclear localization signalSequence analysisAdd BLAST18
Motifi393 – 396DEAH box4

Domaini

4Fe-4S iron-sulfur-binding is required for helicase activity.1 Publication

Sequence similaritiesi

Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG1132. Eukaryota.
COG1199. LUCA.
HOGENOMiHOG000068083.
HOVERGENiHBG081519.
InParanoidiQ9BX63.
KOiK15362.
OrthoDBiEOG091G00LK.
PhylomeDBiQ9BX63.
TreeFamiTF329449.

Family and domain databases

Gene3Di3.40.50.300. 3 hits.
InterProiIPR006555. ATP-dep_Helicase_C.
IPR010614. DEAD_2.
IPR013020. DNA_helicase_DNA-repair_Rad3.
IPR014013. Helic_SF1/SF2_ATP-bd_DinG/Rad3.
IPR006554. Helicase-like_DEXD_c2.
IPR014001. Helicase_ATP-bd.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF06733. DEAD_2. 1 hit.
PF13307. Helicase_C_2. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00488. DEXDc2. 1 hit.
SM00491. HELICc2. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 6 hits.
TIGRFAMsiTIGR00604. rad3. 1 hit.
PROSITEiPS51193. HELICASE_ATP_BIND_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BX63-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS
60 70 80 90 100
GKSLALLCSA LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM
110 120 130 140 150
NQGTSRHFNY PSTPPSERNG TSSTCQDSPE KTTLAAKLSA KKQASIYRDE
160 170 180 190 200
NDDFQVEKKR IRPLETTQQI RKRHCFGTEV HNLDAKVDSG KTVKLNSPLE
210 220 230 240 250
KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK SKIPKIYFGT
260 270 280 290 300
RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME
310 320 330 340 350
LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC
360 370 380 390 400
PYYTARELIQ DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED
410 420 430 440 450
CARESASYSV TEVQLRFARD ELDSMVNNNI RKKDHEPLRA VCCSLINWLE
460 470 480 490 500
ANAEYLVERD YESACKIWSG NEMLLTLHKM GITTATFPIL QGHFSAVLQK
510 520 530 540 550
EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ NSRFADDYKI
560 570 580 590 600
AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF
610 620 630 640 650
SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT
660 670 680 690 700
IGSGPKGRNL CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL
710 720 730 740 750
LEKLKERWLS TGLWHNLELV KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG
760 770 780 790 800
EKDGALLVAV CRGKVSEGLD FSDDNARAVI TIGIPFPNVK DLQVELKRQY
810 820 830 840 850
NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RCIRHRNDWG ALILVDDRFR
860 870 880 890 900
NNPSRYISGL SKWVRQQIQH HSTFESALES LAEFSKKHQK VLNVSIKDRT
910 920 930 940 950
NIQDNESTLE VTSLKYSTPP YLLEAASHLS PENFVEDEAK ICVQELQCPK
960 970 980 990 1000
IITKNSPLPS SIISRKEKND PVFLEEAGKA EKIVISRSTS PTFNKQTKRV
1010 1020 1030 1040 1050
SWSSFNSLGQ YFTGKIPKAT PELGSSENSA SSPPRFKTEK MESKTVLPFT
1060 1070 1080 1090 1100
DKCESSNLTV NTSFGSCPQS ETIISSLKID ATLTRKNHSE HPLCSEEALD
1110 1120 1130 1140 1150
PDIELSLVSE EDKQSTSNRD FETEAEDESI YFTPELYDPE DTDEEKNDLA
1160 1170 1180 1190 1200
ETDRGNRLAN NSDCILAKDL FEIRTIKEVD SAREVKAEDC IDTKLNGILH
1210 1220 1230 1240
IEESKIDDID GNVKTTWINE LELGKTHEIE IKNFKPSPSK NKGMFPGFK
Length:1,249
Mass (Da):140,878
Last modified:June 1, 2001 - v1
Checksum:i8FA4CDF15577D58E
GO
Isoform 2 (identifier: Q9BX63-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     969-994: NDPVFLEEAGKAEKIVISRSTSPTFN → SMKSSSHLPLIEKSFIIFSEMIFIWV
     995-1249: Missing.

Note: No experimental confirmation available.
Show »
Length:994
Mass (Da):112,476
Checksum:i14BFE3010AA0145C
GO

Sequence cautioni

The sequence BAC11156 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti641I → V in BAC11156 (PubMed:14702039).Curated1
Sequence conflicti767E → I AA sequence (PubMed:11301010).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02089647P → A in BC; early onset; loss of ATPase and helicase activities. 2 PublicationsCorresponds to variant rs28903098dbSNPEnsembl.1
Natural variantiVAR_020897173R → C.2 PublicationsCorresponds to variant rs4988345dbSNPEnsembl.1
Natural variantiVAR_020898193V → I.2 PublicationsCorresponds to variant rs4988346dbSNPEnsembl.1
Natural variantiVAR_020899195L → P.1 PublicationCorresponds to variant rs4988347dbSNPEnsembl.1
Natural variantiVAR_023700255Q → H in FANCJ. 1 Publication1
Natural variantiVAR_023701264R → W Rare polymorphism. 1 PublicationCorresponds to variant rs28997569dbSNPEnsembl.1
Natural variantiVAR_020900299M → I in BC; early onset; reduces helicase efficiency on longer substrates. 2 Publications1
Natural variantiVAR_023702349A → P in FANCJ; destabilizes iron-sulfur-binding and abolishes helicase activity. 2 Publications1
Natural variantiVAR_020901419R → W.1 Publication1
Natural variantiVAR_020902531F → V.1 PublicationCorresponds to variant rs4988350dbSNPEnsembl.1
Natural variantiVAR_020903540Q → L.1 PublicationCorresponds to variant rs4988349dbSNPEnsembl.1
Natural variantiVAR_052192633I → M.Corresponds to variant rs28997572dbSNPEnsembl.1
Natural variantiVAR_023703647W → C in FANCJ; associated with C-707. 1 Publication1
Natural variantiVAR_023704707R → C in FANCJ; associated with C-647. 1 Publication1
Natural variantiVAR_020904832C → Y.1 PublicationCorresponds to variant rs4988355dbSNPEnsembl.1
Natural variantiVAR_020905919P → S Very frequent polymorphism. 7 PublicationsCorresponds to variant rs4986764dbSNPEnsembl.1
Natural variantiVAR_020906935V → G.1 PublicationCorresponds to variant rs4988356dbSNPEnsembl.1
Natural variantiVAR_0209071034P → L in a patient with ovarian cancer; unknown pathological significance. 1 Publication1
Natural variantiVAR_0521931148D → E.Corresponds to variant rs28997573dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_012540969 – 994NDPVF…SPTFN → SMKSSSHLPLIEKSFIIFSE MIFIWV in isoform 2. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_012541995 – 1249Missing in isoform 2. 1 PublicationAdd BLAST255

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF360549 mRNA. Translation: AAK38111.1.
AC002994 Genomic DNA. No translation available.
AC005969 Genomic DNA. No translation available.
AC060798 Genomic DNA. No translation available.
BC101472 mRNA. Translation: AAI01473.1.
BC101474 mRNA. Translation: AAI01475.1.
AK074713 mRNA. Translation: BAC11156.1. Different initiation.
CCDSiCCDS11631.1. [Q9BX63-1]
RefSeqiNP_114432.2. NM_032043.2.
UniGeneiHs.128903.

Genome annotation databases

EnsembliENST00000259008; ENSP00000259008; ENSG00000136492.
GeneIDi83990.
KEGGihsa:83990.
UCSCiuc002izk.3. human. [Q9BX63-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Fanconi Anemia Mutation Database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF360549 mRNA. Translation: AAK38111.1.
AC002994 Genomic DNA. No translation available.
AC005969 Genomic DNA. No translation available.
AC060798 Genomic DNA. No translation available.
BC101472 mRNA. Translation: AAI01473.1.
BC101474 mRNA. Translation: AAI01475.1.
AK074713 mRNA. Translation: BAC11156.1. Different initiation.
CCDSiCCDS11631.1. [Q9BX63-1]
RefSeqiNP_114432.2. NM_032043.2.
UniGeneiHs.128903.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1T15X-ray1.85B988-995[»]
1T29X-ray2.30B985-998[»]
3AL3X-ray2.15B1129-1138[»]
ProteinModelPortaliQ9BX63.
SMRiQ9BX63.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123841. 29 interactors.
DIPiDIP-41787N.
IntActiQ9BX63. 6 interactors.
MINTiMINT-275883.
STRINGi9606.ENSP00000259008.

PTM databases

iPTMnetiQ9BX63.
PhosphoSitePlusiQ9BX63.

Polymorphism and mutation databases

BioMutaiBRIP1.
DMDMi57012613.

Proteomic databases

EPDiQ9BX63.
MaxQBiQ9BX63.
PaxDbiQ9BX63.
PeptideAtlasiQ9BX63.
PRIDEiQ9BX63.

Protocols and materials databases

DNASUi83990.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000259008; ENSP00000259008; ENSG00000136492.
GeneIDi83990.
KEGGihsa:83990.
UCSCiuc002izk.3. human. [Q9BX63-1]

Organism-specific databases

CTDi83990.
DisGeNETi83990.
GeneCardsiBRIP1.
GeneReviewsiBRIP1.
H-InvDBHIX0202529.
HGNCiHGNC:20473. BRIP1.
HPAiHPA005474.
MalaCardsiBRIP1.
MIMi114480. phenotype.
605882. gene.
609054. phenotype.
neXtProtiNX_Q9BX63.
Orphaneti84. Fanconi anemia.
145. Hereditary breast and ovarian cancer syndrome.
PharmGKBiPA134906421.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1132. Eukaryota.
COG1199. LUCA.
HOGENOMiHOG000068083.
HOVERGENiHBG081519.
InParanoidiQ9BX63.
KOiK15362.
OrthoDBiEOG091G00LK.
PhylomeDBiQ9BX63.
TreeFamiTF329449.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000136492-MONOMER.
BRENDAi3.6.4.12. 2681.
ReactomeiR-HSA-2564830. Cytosolic iron-sulfur cluster assembly.
R-HSA-5685938. HDR through Single Strand Annealing (SSA).
R-HSA-5685942. HDR through Homologous Recombination (HRR).
R-HSA-5693554. Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA).
R-HSA-5693568. Resolution of D-loop Structures through Holliday Junction Intermediates.
R-HSA-5693579. Homologous DNA Pairing and Strand Exchange.
R-HSA-5693607. Processing of DNA double-strand break ends.
R-HSA-5693616. Presynaptic phase of homologous DNA pairing and strand exchange.
R-HSA-6804756. Regulation of TP53 Activity through Phosphorylation.
R-HSA-69473. G2/M DNA damage checkpoint.
SignaLinkiQ9BX63.

Miscellaneous databases

EvolutionaryTraceiQ9BX63.
GeneWikiiBRIP1.
GenomeRNAii83990.
PROiQ9BX63.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000136492.
CleanExiHS_BACH1.
HS_BRIP1.
ExpressionAtlasiQ9BX63. baseline and differential.
GenevisibleiQ9BX63. HS.

Family and domain databases

Gene3Di3.40.50.300. 3 hits.
InterProiIPR006555. ATP-dep_Helicase_C.
IPR010614. DEAD_2.
IPR013020. DNA_helicase_DNA-repair_Rad3.
IPR014013. Helic_SF1/SF2_ATP-bd_DinG/Rad3.
IPR006554. Helicase-like_DEXD_c2.
IPR014001. Helicase_ATP-bd.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF06733. DEAD_2. 1 hit.
PF13307. Helicase_C_2. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00488. DEXDc2. 1 hit.
SM00491. HELICc2. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 6 hits.
TIGRFAMsiTIGR00604. rad3. 1 hit.
PROSITEiPS51193. HELICASE_ATP_BIND_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFANCJ_HUMAN
AccessioniPrimary (citable) accession number: Q9BX63
Secondary accession number(s): Q3MJE2, Q8NCI5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 4, 2005
Last sequence update: June 1, 2001
Last modified: November 30, 2016
This is version 145 of the entry and version 1 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: 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
  6. SIMILARITY comments
    Index of protein domains and families

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.