UniProtKB - Q9BX63 (FANCJ_HUMAN)

>sp|Q9BX63|FANCJ_HUMAN Fanconi anemia group J protein OS=Homo sapiens OX=9606 GN=BRIP1 PE=1 SV=2
MSSMWSEYTIGGVKIYFPYKAYPSQLAMMNSILRGLNSKQHCLLESPTGSGKSLALLCSA
LAWQQSLSGKPADEGVSEKAEVQLSCCCACHSKDFTNNDMNQGTSRHFNYPSTPPSERNG
TSSTCQDSPEKTTLAAKLSAKKQASIYRDENDDFQVEKKRIRPLETTQQIRKRHCFGTEV
HNLDAKVDSGKTVKLNSPLEKINSFSPQKPPGHCSRCCCSTKQGNSQESSNTIKKDHTGK
SKIPKIYFGTRTHKQIAQITRELRRTAYSGVPMTILSSRDHTCVHPEVVGNFNRNEKCME
LLDGKNGKSCYFYHGVHKISDQHTLQTFQGMCKAWDIEELVSLGKKLKACPYYTARELIQ
DADIIFCPYNYLLDAQIRESMDLNLKEQVVILDEAHNIEDCARESASYSVTEVQLRFARD
ELDSMVNNNIRKKDHEPLRAVCCSLINWLEANAEYLVERDYESACKIWSGNEMLLTLHKM
GITTATFPILQGHFSAVLQKEEKISPIYGKEEAREVPVISASTQIMLKGLFMVLDYLFRQ
NSRFADDYKIAIQQTYSWTNQIDISDKNGLLVLPKNKKRSRQKTAVHVLNFWCLNPAVAF
SDINGKVQTIVLTSGTLSPMKSFSSELGVTFTIQLEANHIIKNSQVWVGTIGSGPKGRNL
CATFQNTETFEFQDEVGALLLSVCQTVSQGILCFLPSYKLLEKLKERWLSTGLWHNLELV
KTVIVEPQGGEKTNFDELLQVYYDAIKYKGEKDGALLVAVCRGKVSEGLDFSDDNARAVI
TIGIPFPNVKDLQVELKRQYNDHHSKLRGLLPGRQWYEIQAYRALNQALGRCIRHRNDWG
ALILVDDRFRNNPSRYISGLSKWVRQQIQHHSTFESALESLAEFSKKHQKVLNVSIKDRT
NIQDNESTLEVTSLKYSTSPYLLEAASHLSPENFVEDEAKICVQELQCPKIITKNSPLPS
SIISRKEKNDPVFLEEAGKAEKIVISRSTSPTFNKQTKRVSWSSFNSLGQYFTGKIPKAT
PELGSSENSASSPPRFKTEKMESKTVLPFTDKCESSNLTVNTSFGSCPQSETIISSLKID
ATLTRKNHSEHPLCSEEALDPDIELSLVSEEDKQSTSNRDFETEAEDESIYFTPELYDPE
DTDEEKNDLAETDRGNRLANNSDCILAKDLFEIRTIKEVDSAREVKAEDCIDTKLNGILH
IEESKIDDIDGNVKTTWINELELGKTHEIEIKNFKPSPSKNKGMFPGFK

Entry version 181 (07 Apr 2021)
Sequence version 2 (10 Oct 2018)
Previous versions | rss

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Protein

Fanconi anemia group J protein

Gene

BRIP1

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -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
Search proteins in UniProtKB for this molecule.
Search chemical reactions in Rhea for this molecule.
See the description of this molecule in ChEBI.
+
H₂O
Search proteins in UniProtKB for this molecule.
Search chemical reactions in Rhea for this molecule.
See the description of this molecule in ChEBI.
=
ADP
Search proteins in UniProtKB for this molecule.
Search chemical reactions in Rhea for this molecule.
See the description of this molecule in ChEBI.
+
H⁺
Search proteins in UniProtKB for this molecule.
Search chemical reactions in Rhea for this molecule.
See the description of this molecule in ChEBI.
+
phosphate
Search proteins in UniProtKB for this molecule.
Search chemical reactions in Rhea for this molecule.
See the description of this molecule in ChEBI.
EC:
3.6.4.13
- Search proteins in UniProtKB for this EC number.
- See the description of this EC number in ENZYME.
Source:
Rhea
Search for this reaction in UniProtKB.
See the description of this reaction in Rhea.
. Show »« Hide
ATP
+
H₂O
=
ADP
+
H⁺
+
phosphate
zoom

Cofactorⁱ

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

Sites

Feature key	Position(s)	DescriptionActions	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

Complete GO annotation on QuickGO ...

GO - Biological processⁱ

Complete GO annotation on QuickGO ...

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
SignaLinkⁱ	Q9BX63
SIGNORⁱ	Q9BX63

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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:20473, BRIP1
MIMⁱ	605882, gene
neXtProtⁱ	NX_Q9BX63
VEuPathDBⁱ	HostDB:ENSG00000136492.8

Keywords - Cellular componentⁱ

Cytoplasm, Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Breast cancer (BC)2 Publications

Disease susceptibility is associated with variants 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.

Related information in OMIM

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

The disease is caused by variants 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.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	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	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 anemia

Organism-specific databases

DisGeNET More...DisGeNETⁱ	83990
GeneReviewsⁱ	BRIP1
MalaCards human disease database More...MalaCardsⁱ	BRIP1
MIMⁱ	114480, phenotype 609054, phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000136492
Orphanetⁱ	84, Fanconi anemia 145, Hereditary breast and ovarian cancer syndrome
PharmGKBⁱ	PA134906421

Miscellaneous databases

Pharosⁱ	Q9BX63, Tbio

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	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

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

The CPTAC Assay portal More...CPTACⁱ	CPTAC-3220 CPTAC-3221 CPTAC-3222 CPTAC-3281 CPTAC-918
EPDⁱ	Q9BX63
jPOSTⁱ	Q9BX63
MassIVEⁱ	Q9BX63
PaxDbⁱ	Q9BX63
PeptideAtlas More...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 131 other tissues
ExpressionAtlasⁱ	Q9BX63, baseline and differential
Genevisibleⁱ	Q9BX63, HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	ENSG00000136492, Tissue enhanced (lymphoid)

HPAⁱ

ENSG00000136492, Tissue enhanced (lymphoid)

Interactionⁱ

Subunit structureⁱ

Binds directly to the BRCT domains of BRCA1 (PubMed:15125843).

Interacts with the CIA complex components CIAO1, CIAO2B and MMS19 (PubMed:23585563).

2 Publications

Binary interactionsⁱ

Hide details

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, 56 interactors
ComplexPortalⁱ	CPX-4426, BRCA1-B complex
CORUMⁱ	Q9BX63
Database of interacting proteins More...DIPⁱ	DIP-41787N
ELMⁱ	Q9BX63
IntActⁱ	Q9BX63, 25 interactors
Molecular INTeraction database More...MINTⁱ	Q9BX63
STRINGⁱ	9606.ENSP00000259008

Miscellaneous databases

RNActⁱ	Q9BX63, protein

RNActⁱ

Q9BX63, protein

Structureⁱ

3D structure databases

SMRⁱ	Q9BX63
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	Q9BX63

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	888 – 1063	Interaction with BRCA11 PublicationAdd BLAST		176

Motif

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Motifⁱ	158 – 175	Nuclear localization signalSequence analysisAdd BLAST		18
Motifⁱ	393 – 396	DEAH box		4

Domainⁱ

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

Sequence similaritiesⁱ

Belongs to the DEAD box helicase family. DEAH subfamily.Curated

Phylogenomic databases

eggNOGⁱ	KOG1132, Eukaryota
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00950000182970
InParanoidⁱ	Q9BX63
OMAⁱ	GSCPQSE
Database of Orthologous Groups More...OrthoDBⁱ	186062at2759
PhylomeDBⁱ	Q9BX63
TreeFamⁱ	TF329449

Family and domain databases

IDEALⁱ	IID00181
InterProⁱ	View protein in InterPro IPR006555, ATP-dep_Helicase_C IPR010614, DEAD_2 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
Pfam protein domain database More...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

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

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

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show all Align All

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

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

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        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

Length:1,249

Mass (Da):140,867

Last modified:October 10, 2018 - v2

Checksum:ⁱ8ED691F03A442BE1

Isoform 2 (identifier: Q9BX63-2) [UniParc]FASTA Add to basket

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

« 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 VTSLKYSTSP YLLEAASHLS PENFVEDEAK ICVQELQCPK 
       960        970        980        990 
IITKNSPLPS SIISRKEKSM KSSSHLPLIE KSFIIFSEMI FIWV

Show »

Length:994

Mass (Da):112,466

Checksum:ⁱA92FE302C66F1790

Computationally mapped potential isoform sequencesⁱ

There are 3 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

J3QKX0	J3QKX0_HUMAN	Fanconi anemia group J protein Fanconi anemia group J protein	BRIP1	180	Annotation score:
J3KS24	J3KS24_HUMAN	Fanconi anemia group J protein Fanconi anemia group J protein	BRIP1	69	Annotation score:
J3QQP5	J3QQP5_HUMAN	Fanconi anemia group J protein Fanconi anemia group J protein	BRIP1	84	Annotation score:

Sequence cautionⁱ

The sequence BAC11156 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

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	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.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS11631.1 [Q9BX63-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_114432.2, NM_032043.2 [Q9BX63-1]

Genome annotation databases

Ensemblⁱ	ENST00000259008; ENSP00000259008; ENSG00000136492 [Q9BX63-1] ENST00000577598; ENSP00000464654; ENSG00000136492 [Q9BX63-2]
GeneIDⁱ	83990
KEGGⁱ	hsa:83990
UCSC genome browser More...UCSCⁱ	uc002izk.3, human [Q9BX63-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9BX63	Helicase ATP-binding domain-containing protein		PANPA		1249	UniRef90_Q9BX63
BRCA1 interacting protein C-terminal helicase 1		GORGO		1249
BRCA1 interacting protein C-terminal helicase 1		PANTR		1249
Helicase ATP-binding domain-containing protein		NOMLE		1229
Helicase ATP-binding domain-containing protein		CERAT		1170
+21

Protein	Similar proteins		Species	Score	Length	Source
Q9BX63	BRCA1 interacting protein C-terminal helicase 1		PANTR		1249	UniRef50_Q9BX63
BRCA1 interacting protein C-terminal helicase 1		GORGO		1249
Helicase ATP-binding domain-containing protein		PANPA		1249
Helicase ATP-binding domain-containing protein		NOMLE		1229
Helicase ATP-binding domain-containing protein		CERAT		1170
+335
Q9BX63-2	Fanconi anemia group J protein isoform X1		TURTR		1182	UniRef50_Q9BX63-2
LOW QUALITY PROTEIN: Fanconi anemia group J protein		LIPVE		1241
LOW QUALITY PROTEIN: Fanconi anemia group J protein		BALAS		1239
Fanconi anemia group J protein		NEOAA		1186
Fanconi anemia group J protein		DELLE		1186
+56

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: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...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	[»]
SMRⁱ	Q9BX63
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Protein-protein interaction databases

BioGRIDⁱ	123841, 56 interactors
ComplexPortalⁱ	CPX-4426, BRCA1-B complex
CORUMⁱ	Q9BX63
DIPⁱ	DIP-41787N
ELMⁱ	Q9BX63
IntActⁱ	Q9BX63, 25 interactors
MINTⁱ	Q9BX63
STRINGⁱ	9606.ENSP00000259008

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
PaxDbⁱ	Q9BX63
PeptideAtlasⁱ	Q9BX63
PRIDEⁱ	Q9BX63
ProteomicsDBⁱ	79352 [Q9BX63-1] 79353 [Q9BX63-2]

Protocols and materials databases

Antibodypediaⁱ	18594, 305 antibodies
The CPTC Antibody Portal More...CPTCⁱ	Q9BX63, 5 antibodies
The DNASU plasmid repository More...DNASUⁱ	83990

Genome annotation databases

Ensemblⁱ	ENST00000259008; ENSP00000259008; ENSG00000136492 [Q9BX63-1] ENST00000577598; ENSP00000464654; ENSG00000136492 [Q9BX63-2]
GeneIDⁱ	83990
KEGGⁱ	hsa:83990
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 (lymphoid)
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:ENSG00000136492.8
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG1132, Eukaryota
GeneTreeⁱ	ENSGT00950000182970
InParanoidⁱ	Q9BX63
OMAⁱ	GSCPQSE
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
SignaLinkⁱ	Q9BX63
SIGNORⁱ	Q9BX63

Miscellaneous databases

BioGRID-ORCSⁱ	83990, 88 hits in 999 CRISPR screens
ChiTaRSⁱ	BRIP1, human
EvolutionaryTraceⁱ	Q9BX63
GeneWikiⁱ	BRIP1
GenomeRNAiⁱ	83990
Pharosⁱ	Q9BX63, Tbio
Protein Ontology More...PROⁱ	PR:Q9BX63
RNActⁱ	Q9BX63, protein
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000136492, Expressed in lung and 131 other tissues
ExpressionAtlasⁱ	Q9BX63, baseline and differential
Genevisibleⁱ	Q9BX63, HS

Family and domain databases

IDEALⁱ	IID00181
InterProⁱ	View protein in InterPro IPR006555, ATP-dep_Helicase_C IPR010614, DEAD_2 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
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
ProtoNetⁱ	Search...
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:	April 7, 2021
	This is version 181 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 proteome

Documents

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

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UniProtKB - Q9BX63 (FANCJ_HUMAN)

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Fanconi anemia group J protein

BRIP1

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Cytoplasm and Cytosol

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Nucleus

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Keywords - Diseasei

Organism-specific databases

Miscellaneous databases

Genetic variation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Q9BX63

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

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Motif

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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Sequence databases

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Protein-protein interaction databases

PTM databases

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Proteomic databases

Protocols and materials databases

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Functionⁱ

Catalytic activityⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ