UniProtKB - Q9BX63 (FANCJ_HUMAN)
Fanconi anemia group J protein
BRIP1
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 PublicationsCatalytic activityi
Cofactori
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 283 | Iron-sulfur (4Fe-4S)By similarity | 1 | |
Metal bindingi | 298 | Iron-sulfur (4Fe-4S)By similarity | 1 | |
Metal bindingi | 310 | Iron-sulfur (4Fe-4S)By similarity | 1 | |
Metal bindingi | 350 | Iron-sulfur (4Fe-4S)By similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 185 – 192 | ATPPROSITE-ProRule annotation | 8 |
GO - Molecular functioni
- 4 iron, 4 sulfur cluster binding Source: UniProtKB-KW
- 5'-3' DNA helicase activity Source: HGNC
- ATP binding Source: UniProtKB-KW
- ATP hydrolysis activity Source: RHEA
- chromatin binding Source: Ensembl
- DNA binding Source: UniProtKB
- DNA helicase activity Source: GO_Central
- metal ion binding Source: UniProtKB-KW
- RNA helicase activity Source: UniProtKB-EC
GO - Biological processi
- cellular response to angiotensin Source: Ensembl
- cellular response to hypoxia Source: Ensembl
- cellular response to vitamin Source: Ensembl
- chiasma assembly Source: Ensembl
- DNA damage checkpoint signaling Source: UniProtKB
- DNA repair Source: ComplexPortal
- double-strand break repair Source: UniProtKB
- double-strand break repair involved in meiotic recombination Source: GO_Central
- homologous recombination Source: ComplexPortal
- meiotic DNA double-strand break processing involved in reciprocal meiotic recombination Source: Ensembl
- negative regulation of cell population proliferation Source: Ensembl
- negative regulation of gene expression Source: Ensembl
- nucleotide-excision repair Source: GO_Central
- regulation of transcription by RNA polymerase II Source: MGI
- response to toxic substance Source: Ensembl
- seminiferous tubule development Source: Ensembl
- spermatid development Source: Ensembl
- spermatogonial cell division Source: Ensembl
Keywordsi
Molecular function | Helicase, Hydrolase |
Biological process | DNA damage, DNA repair |
Ligand | 4Fe-4S, ATP-binding, Iron, Iron-sulfur, Metal-binding, Nucleotide-binding |
Enzyme and pathway databases
BRENDAi | 3.6.4.12, 2681 |
PathwayCommonsi | Q9BX63 |
Reactomei | R-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 R-HSA-9701192, Defective HDR through Homologous Recombination (HRR) due to BRCA1 loss-of-function R-HSA-9704331, Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function R-HSA-9704646, Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function |
SignaLinki | Q9BX63 |
SIGNORi | Q9BX63 |
Names & Taxonomyi
Protein namesi | Recommended name: Fanconi anemia group J proteinCurated (EC:3.6.4.131 Publication)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 | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:20473, BRIP1 |
MIMi | 605882, gene |
neXtProti | NX_Q9BX63 |
VEuPathDBi | HostDB:ENSG00000136492 |
Subcellular locationi
Nucleus
- BRCA1-B complex Source: ComplexPortal
- nuclear membrane Source: HPA
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Breast cancer (BC)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_020896 | 47 | P → A in BC; early onset; loss of ATPase and helicase activities. 2 PublicationsCorresponds to variant dbSNP:rs28903098EnsemblClinVar. | 1 | |
Natural variantiVAR_020900 | 299 | M → I in BC; early onset; reduces helicase efficiency on longer substrates. 2 PublicationsCorresponds to variant dbSNP:rs137852985EnsemblClinVar. | 1 |
Fanconi anemia complementation group J (FANCJ)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023700 | 255 | Q → H in FANCJ. 1 Publication | 1 | |
Natural variantiVAR_023702 | 349 | A → P in FANCJ; destabilizes iron-sulfur-binding and abolishes helicase activity. 2 PublicationsCorresponds to variant dbSNP:rs149364097EnsemblClinVar. | 1 | |
Natural variantiVAR_023703 | 647 | W → C in FANCJ; associated with C-707. 1 PublicationCorresponds to variant dbSNP:rs786202760EnsemblClinVar. | 1 | |
Natural variantiVAR_023704 | 707 | R → C in FANCJ; associated with C-647. 1 PublicationCorresponds to variant dbSNP:rs764803896EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 52 | K → R: Disrupts BRCA1-mediated double-strand break repair. Loss of ATPase and DNA helicase activities. 3 Publications | 1 | |
Mutagenesisi | 986 | S → A: Does not affect the interaction with BRCA1. 1 Publication | 1 | |
Mutagenesisi | 988 | S → A: Does not affect the interaction with BRCA1. 1 Publication | 1 | |
Mutagenesisi | 989 | T → A: Does not affect the interaction with BRCA1. 1 Publication | 1 | |
Mutagenesisi | 990 | S → A: Disrupts the interaction with BRCA1. 1 Publication | 1 | |
Mutagenesisi | 991 | P → A: Abolishes phosphorylation of S-990. Impairs the interaction with BRCA1. 1 Publication | 1 | |
Mutagenesisi | 992 | T → A: Does not affect the interaction with BRCA1. 1 Publication | 1 | |
Mutagenesisi | 993 | F → A: Abolishes phosphorylation of S-990. Impairs the interaction with BRCA1. 1 Publication | 1 | |
Mutagenesisi | 997 | T → A: Does not affect the interaction with BRCA1. 1 Publication | 1 | |
Mutagenesisi | 1001 | S → A: Does not affect the interaction with BRCA1. 1 Publication | 1 | |
Mutagenesisi | 1003 | S → A: Does not affect the interaction with BRCA1. 1 Publication | 1 | |
Mutagenesisi | 1004 | S → A: Does not affect the interaction with BRCA1. 1 Publication | 1 | |
Mutagenesisi | 1007 | S → A: Does not affect the interaction with BRCA1. 1 Publication | 1 | |
Mutagenesisi | 1011 | Y → A: Does not affect the interaction with BRCA1. 1 Publication | 1 | |
Mutagenesisi | 1013 | T → A: Does not affect the interaction with BRCA1. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Fanconi anemiaOrganism-specific databases
DisGeNETi | 83990 |
GeneReviewsi | BRIP1 |
MalaCardsi | BRIP1 |
MIMi | 114480, phenotype 609054, phenotype |
OpenTargetsi | ENSG00000136492 |
Orphaneti | 84, Fanconi anemia 145, Hereditary breast and ovarian cancer syndrome |
PharmGKBi | PA134906421 |
Miscellaneous databases
Pharosi | Q9BX63, Tbio |
Genetic variation databases
BioMutai | BRIP1 |
DMDMi | 57012613 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000055173 | 1 – 1249 | Fanconi anemia group J proteinAdd BLAST | 1249 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 505 | PhosphoserineCombined sources | 1 | |
Modified residuei | 927 | PhosphoserineCombined sources | 1 | |
Modified residuei | 930 | PhosphoserineCombined sources | 1 | |
Modified residuei | 956 | PhosphoserineCombined sources | 1 | |
Modified residuei | 990 | PhosphoserineCombined sources1 Publication | 1 | |
Modified residuei | 1004 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1032 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1237 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1249 | N6-acetyllysine1 Publication | 1 |
Post-translational modificationi
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
CPTACi | CPTAC-3220 CPTAC-3221 CPTAC-3222 CPTAC-3281 CPTAC-918 |
EPDi | Q9BX63 |
jPOSTi | Q9BX63 |
MassIVEi | Q9BX63 |
MaxQBi | Q9BX63 |
PaxDbi | Q9BX63 |
PeptideAtlasi | Q9BX63 |
PRIDEi | Q9BX63 |
ProteomicsDBi | 79352 [Q9BX63-1] 79353 [Q9BX63-2] |
PTM databases
iPTMneti | Q9BX63 |
PhosphoSitePlusi | Q9BX63 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000136492, Expressed in lung and 132 other tissues |
ExpressionAtlasi | Q9BX63, baseline and differential |
Genevisiblei | Q9BX63, HS |
Organism-specific databases
HPAi | ENSG00000136492, Tissue enhanced (bone marrow, lymphoid tissue, testis) |
Interactioni
Subunit structurei
Binary interactionsi
Q9BX63
With | #Exp. | IntAct |
---|---|---|
BLM [P54132] | 16 | EBI-3509650,EBI-621372 |
BRCA1 [P38398] | 24 | EBI-3509650,EBI-349905 |
HSD17B14 [Q9BPX1] | 3 | EBI-3509650,EBI-742664 |
MLH1 [P40692] | 14 | EBI-3509650,EBI-744248 |
Protein-protein interaction databases
BioGRIDi | 123841, 73 interactors |
ComplexPortali | CPX-4426, BRCA1-B complex |
CORUMi | Q9BX63 |
DIPi | DIP-41787N |
ELMi | Q9BX63 |
IntActi | Q9BX63, 25 interactors |
MINTi | Q9BX63 |
STRINGi | 9606.ENSP00000259008 |
Chemistry databases
BindingDBi | Q9BX63 |
Miscellaneous databases
RNActi | Q9BX63, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q9BX63 |
SMRi | Q9BX63 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9BX63 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 11 – 442 | Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST | 432 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 102 – 131 | DisorderedSequence analysisAdd BLAST | 30 | |
Regioni | 888 – 1063 | Interaction with BRCA11 PublicationAdd BLAST | 176 | |
Regioni | 1018 – 1042 | DisorderedSequence analysisAdd BLAST | 25 | |
Regioni | 1108 – 1127 | DisorderedSequence analysisAdd BLAST | 20 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 158 – 175 | Nuclear localization signalSequence analysisAdd BLAST | 18 | |
Motifi | 393 – 396 | DEAH box | 4 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1022 – 1036 | Polar residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 1108 – 1126 | Basic and acidic residuesSequence analysisAdd BLAST | 19 |
Domaini
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG1132, Eukaryota |
GeneTreei | ENSGT00950000182970 |
InParanoidi | Q9BX63 |
OMAi | CHSKNFT |
OrthoDBi | 186062at2759 |
PhylomeDBi | Q9BX63 |
TreeFami | TF329449 |
Family and domain databases
Gene3Di | 3.40.50.300, 3 hits |
IDEALi | IID00181 |
InterProi | View protein in InterPro IPR006555, ATP-dep_Helicase_C IPR010614, DEAD_2 IPR045028, DinG/Rad3-like IPR014013, Helic_SF1/SF2_ATP-bd_DinG/Rad3 IPR006554, Helicase-like_DEXD_c2 IPR014001, Helicase_ATP-bd IPR027417, P-loop_NTPase IPR013020, Rad3/Chl1-like |
PANTHERi | PTHR11472, PTHR11472, 1 hit |
Pfami | View protein in Pfam PF06733, DEAD_2, 1 hit PF13307, Helicase_C_2, 1 hit |
SMARTi | View protein in SMART SM00487, DEXDc, 1 hit SM00488, DEXDc2, 1 hit SM00491, HELICc2, 1 hit |
SUPFAMi | SSF52540, SSF52540, 2 hits |
TIGRFAMsi | TIGR00604, rad3, 1 hit |
PROSITEi | View protein in PROSITE PS51193, HELICASE_ATP_BIND_2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 14 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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 VTSLKYSTSP 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
Computationally mapped potential isoform sequencesi
There are 14 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A804HJV4 | A0A804HJV4_HUMAN | Fanconi anemia group J protein | BRIP1 | 1,175 | Annotation score: | ||
A0A804HKS0 | A0A804HKS0_HUMAN | Fanconi anemia group J protein | BRIP1 | 970 | Annotation score: | ||
J3QKX0 | J3QKX0_HUMAN | Fanconi anemia group J protein | BRIP1 | 852 | Annotation score: | ||
A0A804HL36 | A0A804HL36_HUMAN | Fanconi anemia group J protein | BRIP1 | 872 | Annotation score: | ||
A0A804HJU1 | A0A804HJU1_HUMAN | Fanconi anemia group J protein | BRIP1 | 833 | Annotation score: | ||
A0A804HK62 | A0A804HK62_HUMAN | Fanconi anemia group J protein | BRIP1 | 870 | Annotation score: | ||
A0A804HIH9 | A0A804HIH9_HUMAN | Fanconi anemia group J protein | BRIP1 | 460 | Annotation score: | ||
A0A804HJY1 | A0A804HJY1_HUMAN | Fanconi anemia group J protein | BRIP1 | 232 | Annotation score: | ||
J3KS24 | J3KS24_HUMAN | Fanconi anemia group J protein | BRIP1 | 220 | Annotation score: | ||
J3QQP5 | J3QQP5_HUMAN | Fanconi anemia group J protein | BRIP1 | 380 | Annotation score: | ||
There are more potential isoformsShow all |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 641 | I → V in BAC11156 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 767 | E → I AA sequence (PubMed:11301010).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_020896 | 47 | P → A in BC; early onset; loss of ATPase and helicase activities. 2 PublicationsCorresponds to variant dbSNP:rs28903098EnsemblClinVar. | 1 | |
Natural variantiVAR_020897 | 173 | R → C2 PublicationsCorresponds to variant dbSNP:rs4988345EnsemblClinVar. | 1 | |
Natural variantiVAR_020898 | 193 | V → I2 PublicationsCorresponds to variant dbSNP:rs4988346EnsemblClinVar. | 1 | |
Natural variantiVAR_020899 | 195 | L → P1 PublicationCorresponds to variant dbSNP:rs4988347EnsemblClinVar. | 1 | |
Natural variantiVAR_023700 | 255 | Q → H in FANCJ. 1 Publication | 1 | |
Natural variantiVAR_023701 | 264 | R → W1 PublicationCorresponds to variant dbSNP:rs28997569EnsemblClinVar. | 1 | |
Natural variantiVAR_020900 | 299 | M → I in BC; early onset; reduces helicase efficiency on longer substrates. 2 PublicationsCorresponds to variant dbSNP:rs137852985EnsemblClinVar. | 1 | |
Natural variantiVAR_023702 | 349 | A → P in FANCJ; destabilizes iron-sulfur-binding and abolishes helicase activity. 2 PublicationsCorresponds to variant dbSNP:rs149364097EnsemblClinVar. | 1 | |
Natural variantiVAR_020901 | 419 | R → W1 PublicationCorresponds to variant dbSNP:rs150624408EnsemblClinVar. | 1 | |
Natural variantiVAR_020902 | 531 | F → V1 PublicationCorresponds to variant dbSNP:rs4988350EnsemblClinVar. | 1 | |
Natural variantiVAR_020903 | 540 | Q → L1 PublicationCorresponds to variant dbSNP:rs4988349EnsemblClinVar. | 1 | |
Natural variantiVAR_052192 | 633 | I → M. Corresponds to variant dbSNP:rs28997572EnsemblClinVar. | 1 | |
Natural variantiVAR_023703 | 647 | W → C in FANCJ; associated with C-707. 1 PublicationCorresponds to variant dbSNP:rs786202760EnsemblClinVar. | 1 | |
Natural variantiVAR_023704 | 707 | R → C in FANCJ; associated with C-647. 1 PublicationCorresponds to variant dbSNP:rs764803896EnsemblClinVar. | 1 | |
Natural variantiVAR_020904 | 832 | C → Y1 PublicationCorresponds to variant dbSNP:rs4988355Ensembl. | 1 | |
Natural variantiVAR_020905 | 919 | S → P7 PublicationsCorresponds to variant dbSNP:rs4986764EnsemblClinVar. | 1 | |
Natural variantiVAR_020906 | 935 | V → G1 PublicationCorresponds to variant dbSNP:rs4988356EnsemblClinVar. | 1 | |
Natural variantiVAR_020907 | 1034 | P → L in a patient with ovarian cancer; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1199923024EnsemblClinVar. | 1 | |
Natural variantiVAR_052193 | 1148 | D → E. Corresponds to variant dbSNP:rs28997573EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_012540 | 969 – 994 | NDPVF…SPTFN → SMKSSSHLPLIEKSFIIFSE MIFIWV in isoform 2. 1 PublicationAdd BLAST | 26 | |
Alternative sequenceiVSP_012541 | 995 – 1249 | Missing in isoform 2. 1 PublicationAdd BLAST | 255 |
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. CH471179 Genomic DNA Translation: EAW51430.1 CH471179 Genomic DNA Translation: EAW51432.1 CH471179 Genomic DNA Translation: EAW51431.1 CH471179 Genomic DNA Translation: EAW51433.1 BC101472 mRNA Translation: AAI01473.1 BC101474 mRNA Translation: AAI01475.1 AK074713 mRNA Translation: BAC11156.1 Different initiation. |
CCDSi | CCDS11631.1 [Q9BX63-1] |
RefSeqi | NP_114432.2, NM_032043.2 [Q9BX63-1] |
Genome annotation databases
Ensembli | ENST00000259008.7; ENSP00000259008.2; ENSG00000136492.10 ENST00000577598.5; ENSP00000464654.1; ENSG00000136492.10 [Q9BX63-2] ENST00000682453.1; ENSP00000506943.1; ENSG00000136492.10 ENST00000683039.1; ENSP00000508303.1; ENSG00000136492.10 |
GeneIDi | 83990 |
KEGGi | hsa:83990 |
MANE-Selecti | ENST00000259008.7; ENSP00000259008.2; NM_032043.3; NP_114432.2 |
UCSCi | uc002izk.3, human [Q9BX63-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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. CH471179 Genomic DNA Translation: EAW51430.1 CH471179 Genomic DNA Translation: EAW51432.1 CH471179 Genomic DNA Translation: EAW51431.1 CH471179 Genomic DNA Translation: EAW51433.1 BC101472 mRNA Translation: AAI01473.1 BC101474 mRNA Translation: AAI01475.1 AK074713 mRNA Translation: BAC11156.1 Different initiation. |
CCDSi | CCDS11631.1 [Q9BX63-1] |
RefSeqi | NP_114432.2, NM_032043.2 [Q9BX63-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1T15 | X-ray | 1.85 | B | 988-995 | [»] | |
1T29 | X-ray | 2.30 | B | 985-998 | [»] | |
3AL3 | X-ray | 2.15 | B | 1129-1138 | [»] | |
AlphaFoldDBi | Q9BX63 | |||||
SMRi | Q9BX63 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 123841, 73 interactors |
ComplexPortali | CPX-4426, BRCA1-B complex |
CORUMi | Q9BX63 |
DIPi | DIP-41787N |
ELMi | Q9BX63 |
IntActi | Q9BX63, 25 interactors |
MINTi | Q9BX63 |
STRINGi | 9606.ENSP00000259008 |
Chemistry databases
BindingDBi | Q9BX63 |
PTM databases
iPTMneti | Q9BX63 |
PhosphoSitePlusi | Q9BX63 |
Genetic variation databases
BioMutai | BRIP1 |
DMDMi | 57012613 |
Proteomic databases
CPTACi | CPTAC-3220 CPTAC-3221 CPTAC-3222 CPTAC-3281 CPTAC-918 |
EPDi | Q9BX63 |
jPOSTi | Q9BX63 |
MassIVEi | Q9BX63 |
MaxQBi | Q9BX63 |
PaxDbi | Q9BX63 |
PeptideAtlasi | Q9BX63 |
PRIDEi | Q9BX63 |
ProteomicsDBi | 79352 [Q9BX63-1] 79353 [Q9BX63-2] |
Protocols and materials databases
Antibodypediai | 18594, 313 antibodies from 36 providers |
CPTCi | Q9BX63, 5 antibodies |
DNASUi | 83990 |
Genome annotation databases
Ensembli | ENST00000259008.7; ENSP00000259008.2; ENSG00000136492.10 ENST00000577598.5; ENSP00000464654.1; ENSG00000136492.10 [Q9BX63-2] ENST00000682453.1; ENSP00000506943.1; ENSG00000136492.10 ENST00000683039.1; ENSP00000508303.1; ENSG00000136492.10 |
GeneIDi | 83990 |
KEGGi | hsa:83990 |
MANE-Selecti | ENST00000259008.7; ENSP00000259008.2; NM_032043.3; NP_114432.2 |
UCSCi | uc002izk.3, human [Q9BX63-1] |
Organism-specific databases
CTDi | 83990 |
DisGeNETi | 83990 |
GeneCardsi | BRIP1 |
GeneReviewsi | BRIP1 |
HGNCi | HGNC:20473, BRIP1 |
HPAi | ENSG00000136492, Tissue enhanced (bone marrow, lymphoid tissue, testis) |
MalaCardsi | BRIP1 |
MIMi | 114480, phenotype 605882, gene 609054, phenotype |
neXtProti | NX_Q9BX63 |
OpenTargetsi | ENSG00000136492 |
Orphaneti | 84, Fanconi anemia 145, Hereditary breast and ovarian cancer syndrome |
PharmGKBi | PA134906421 |
VEuPathDBi | HostDB:ENSG00000136492 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1132, Eukaryota |
GeneTreei | ENSGT00950000182970 |
InParanoidi | Q9BX63 |
OMAi | CHSKNFT |
OrthoDBi | 186062at2759 |
PhylomeDBi | Q9BX63 |
TreeFami | TF329449 |
Enzyme and pathway databases
BRENDAi | 3.6.4.12, 2681 |
PathwayCommonsi | Q9BX63 |
Reactomei | R-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 R-HSA-9701192, Defective HDR through Homologous Recombination (HRR) due to BRCA1 loss-of-function R-HSA-9704331, Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function R-HSA-9704646, Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function |
SignaLinki | Q9BX63 |
SIGNORi | Q9BX63 |
Miscellaneous databases
BioGRID-ORCSi | 83990, 98 hits in 1082 CRISPR screens |
ChiTaRSi | BRIP1, human |
EvolutionaryTracei | Q9BX63 |
GeneWikii | BRIP1 |
GenomeRNAii | 83990 |
Pharosi | Q9BX63, Tbio |
PROi | PR:Q9BX63 |
RNActi | Q9BX63, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000136492, Expressed in lung and 132 other tissues |
ExpressionAtlasi | Q9BX63, baseline and differential |
Genevisiblei | Q9BX63, HS |
Family and domain databases
Gene3Di | 3.40.50.300, 3 hits |
IDEALi | IID00181 |
InterProi | View protein in InterPro IPR006555, ATP-dep_Helicase_C IPR010614, DEAD_2 IPR045028, DinG/Rad3-like IPR014013, Helic_SF1/SF2_ATP-bd_DinG/Rad3 IPR006554, Helicase-like_DEXD_c2 IPR014001, Helicase_ATP-bd IPR027417, P-loop_NTPase IPR013020, Rad3/Chl1-like |
PANTHERi | PTHR11472, PTHR11472, 1 hit |
Pfami | View protein in Pfam PF06733, DEAD_2, 1 hit PF13307, Helicase_C_2, 1 hit |
SMARTi | View protein in SMART SM00487, DEXDc, 1 hit SM00488, DEXDc2, 1 hit SM00491, HELICc2, 1 hit |
SUPFAMi | SSF52540, SSF52540, 2 hits |
TIGRFAMsi | TIGR00604, rad3, 1 hit |
PROSITEi | View protein in PROSITE PS51193, HELICASE_ATP_BIND_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | FANCJ_HUMAN | |
Accessioni | Q9BX63Primary (citable) accession number: Q9BX63 Secondary accession number(s): A0A024QZ45, Q3MJE2, Q8NCI5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 4, 2005 |
Last sequence update: | October 10, 2018 | |
Last modified: | May 25, 2022 | |
This is version 185 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families