UniProtKB - Q96RK4 (BBS4_HUMAN)
Protein
Bardet-Biedl syndrome 4 protein
Gene
BBS4
Organism
Homo sapiens (Human)
Status
Functioni
The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome.3 Publications
GO - Molecular functioni
- alpha-tubulin binding Source: BHF-UCL
- beta-tubulin binding Source: BHF-UCL
- dynactin binding Source: BHF-UCL
- protein-macromolecule adaptor activity Source: UniProtKB
- RNA polymerase II repressing transcription factor binding Source: MGI
GO - Biological processi
- adult behavior Source: BHF-UCL
- brain morphogenesis Source: BHF-UCL
- centrosome cycle Source: UniProtKB
- cerebral cortex development Source: BHF-UCL
- cilium assembly Source: BHF-UCL
- dendrite development Source: BHF-UCL
- face development Source: Ensembl
- fat cell differentiation Source: BHF-UCL
- fat pad development Source: Ensembl
- heart looping Source: BHF-UCL
- hippocampus development Source: BHF-UCL
- intracellular transport Source: BHF-UCL
- maintenance of protein location in nucleus Source: BHF-UCL
- melanosome transport Source: BHF-UCL
- microtubule anchoring at centrosome Source: BHF-UCL
- microtubule cytoskeleton organization Source: BHF-UCL
- mitotic cytokinesis Source: BHF-UCL
- negative regulation of actin filament polymerization Source: Ensembl
- negative regulation of appetite by leptin-mediated signaling pathway Source: BHF-UCL
- negative regulation of gene expression Source: Ensembl
- negative regulation of GTPase activity Source: Ensembl
- negative regulation of systemic arterial blood pressure Source: Ensembl
- neural tube closure Source: BHF-UCL
- neuron migration Source: Ensembl
- non-motile cilium assembly Source: BHF-UCL
- photoreceptor cell maintenance Source: BHF-UCL
- photoreceptor cell outer segment organization Source: Ensembl
- positive regulation of cilium assembly Source: BHF-UCL
- positive regulation of multicellular organism growth Source: Ensembl
- protein localization to centrosome Source: BHF-UCL
- protein localization to cilium Source: GO_Central
- protein localization to organelle Source: BHF-UCL
- protein localization to photoreceptor outer segment Source: Ensembl
- protein transport Source: UniProtKB-KW
- regulation of cilium beat frequency involved in ciliary motility Source: BHF-UCL
- regulation of cytokinesis Source: BHF-UCL
- regulation of lipid metabolic process Source: BHF-UCL
- regulation of non-motile cilium assembly Source: Ensembl
- regulation of stress fiber assembly Source: Ensembl
- retina homeostasis Source: BHF-UCL
- retinal rod cell development Source: BHF-UCL
- sensory perception of smell Source: BHF-UCL
- sensory processing Source: BHF-UCL
- social behavior Source: Ensembl
- spermatid development Source: BHF-UCL
- striatum development Source: BHF-UCL
- ventricular system development Source: Ensembl
- visual perception Source: UniProtKB-KW
Keywordsi
Biological process | Cilium biogenesis/degradation, Protein transport, Sensory transduction, Transport, Vision |
Enzyme and pathway databases
PathwayCommonsi | Q96RK4 |
Reactomei | R-HSA-5620922, BBSome-mediated cargo-targeting to cilium |
Names & Taxonomyi
Protein namesi | Recommended name: Bardet-Biedl syndrome 4 protein |
Gene namesi | Name:BBS4 |
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:969, BBS4 |
MIMi | 600374, gene |
neXtProti | NX_Q96RK4 |
VEuPathDBi | HostDB:ENSG00000140463.13 |
Subcellular locationi
Cytoskeleton
- centrosome By similarity
- centriolar satellite By similarity
Plasma membrane
- cilium membrane By similarity
Other locations
Note: Localizes to the pericentriolar material. Centrosomal localization requires dynein (By similarity). Localizes to the connecting cilium of photoreceptor cells (By similarity).By similarity
Cytoskeleton
- centriolar satellite Source: UniProtKB
- centriole Source: BHF-UCL
- centrosome Source: UniProtKB
- ciliary basal body Source: BHF-UCL
- pericentriolar material Source: UniProtKB
Cytosol
- cytosol Source: HPA
Nucleus
- nucleus Source: GOC
Plasma Membrane
- ciliary membrane Source: BHF-UCL
Other locations
- BBSome Source: UniProtKB
- ciliary transition zone Source: GO_Central
- cilium Source: UniProtKB
- motile cilium Source: BHF-UCL
- non-motile cilium Source: BHF-UCL
- photoreceptor connecting cilium Source: Ensembl
- photoreceptor inner segment Source: Ensembl
- photoreceptor outer segment Source: Ensembl
Keywords - Cellular componenti
Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Flagellum, MembranePathology & Biotechi
Involvement in diseasei
Bardet-Biedl syndrome 4 (BBS4)6 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_017049 | 165 | N → H in BBS4. 1 Publication | 1 | |
Natural variantiVAR_013170 | 295 | R → P in BBS4. 1 PublicationCorresponds to variant dbSNP:rs121434632EnsemblClinVar. | 1 | |
Natural variantiVAR_017050 | 327 | L → P in BBS4. 1 Publication | 1 | |
Natural variantiVAR_038895 | 351 | L → R in BBS4. 1 Publication | 1 | |
Natural variantiVAR_017051 | 364 | A → E in BBS4. 1 PublicationCorresponds to variant dbSNP:rs28938468EnsemblClinVar. | 1 | |
Natural variantiVAR_038896 | 368 | D → G in BBS4. 1 PublicationCorresponds to variant dbSNP:rs772548770EnsemblClinVar. | 1 | |
Natural variantiVAR_017052 | 457 | S → I in BBS4. 1 Publication | 1 | |
Natural variantiVAR_017053 | 472 | M → V in BBS4. 2 PublicationsCorresponds to variant dbSNP:rs2277596EnsemblClinVar. | 1 | |
Natural variantiVAR_038897 | 503 | P → L in BBS4. Corresponds to variant dbSNP:rs756419611Ensembl. | 1 |
Keywords - Diseasei
Bardet-Biedl syndrome, Ciliopathy, Disease variant, Mental retardation, ObesityOrganism-specific databases
DisGeNETi | 585 |
GeneReviewsi | BBS4 |
MalaCardsi | BBS4 |
MIMi | 615982, phenotype |
OpenTargetsi | ENSG00000140463 |
Orphaneti | 110, Bardet-Biedl syndrome |
PharmGKBi | PA25278 |
Miscellaneous databases
Pharosi | Q96RK4, Tbio |
Genetic variation databases
BioMutai | BBS4 |
DMDMi | 160359000 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000106263 | 1 – 519 | Bardet-Biedl syndrome 4 proteinAdd BLAST | 519 |
Proteomic databases
EPDi | Q96RK4 |
MassIVEi | Q96RK4 |
MaxQBi | Q96RK4 |
PaxDbi | Q96RK4 |
PeptideAtlasi | Q96RK4 |
PRIDEi | Q96RK4 |
ProteomicsDBi | 5732 77975 [Q96RK4-1] 77976 [Q96RK4-2] |
PTM databases
iPTMneti | Q96RK4 |
PhosphoSitePlusi | Q96RK4 |
Expressioni
Tissue specificityi
Ubiquitously expressed. The highest level of expression is found in the kidney.
Gene expression databases
Bgeei | ENSG00000140463, Expressed in right uterine tube and 216 other tissues |
ExpressionAtlasi | Q96RK4, baseline and differential |
Genevisiblei | Q96RK4, HS |
Organism-specific databases
HPAi | ENSG00000140463, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsQ96RK4
GO - Molecular functioni
- alpha-tubulin binding Source: BHF-UCL
- beta-tubulin binding Source: BHF-UCL
- dynactin binding Source: BHF-UCL
- RNA polymerase II repressing transcription factor binding Source: MGI
Protein-protein interaction databases
BioGRIDi | 107060, 45 interactors |
ComplexPortali | CPX-1908, BBSome complex |
CORUMi | Q96RK4 |
DIPi | DIP-46540N |
IntActi | Q96RK4, 65 interactors |
STRINGi | 9606.ENSP00000268057 |
Miscellaneous databases
RNActi | Q96RK4, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 67 – 100 | TPR 1Add BLAST | 34 | |
Repeati | 101 – 134 | TPR 2Add BLAST | 34 | |
Repeati | 135 – 168 | TPR 3Add BLAST | 34 | |
Repeati | 169 – 201 | TPR 4Add BLAST | 33 | |
Repeati | 203 – 235 | TPR 5Add BLAST | 33 | |
Repeati | 237 – 269 | TPR 6Add BLAST | 33 | |
Repeati | 270 – 303 | TPR 7Add BLAST | 34 | |
Repeati | 304 – 337 | TPR 8Add BLAST | 34 | |
Repeati | 339 – 371 | TPR 9Add BLAST | 33 | |
Repeati | 373 – 408 | TPR 10Add BLAST | 36 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 66 | Required for localization to centrosomesAdd BLAST | 66 | |
Regioni | 101 – 337 | Interaction with PCM11 PublicationAdd BLAST | 237 | |
Regioni | 338 – 519 | Required for localization to centrosomesAdd BLAST | 182 |
Sequence similaritiesi
Belongs to the BBS4 family.Curated
Keywords - Domaini
Repeat, TPR repeatPhylogenomic databases
eggNOGi | KOG1124, Eukaryota |
GeneTreei | ENSGT00940000158166 |
HOGENOMi | CLU_033477_1_0_1 |
InParanoidi | Q96RK4 |
OMAi | NPRMGEL |
PhylomeDBi | Q96RK4 |
TreeFami | TF324966 |
Family and domain databases
Gene3Di | 1.25.40.10, 3 hits |
InterProi | View protein in InterPro IPR028786, BBS4 IPR013026, TPR-contain_dom IPR011990, TPR-like_helical_dom_sf IPR019734, TPR_repeat |
PANTHERi | PTHR44186, PTHR44186, 1 hit |
Pfami | View protein in Pfam PF13181, TPR_8, 2 hits |
SMARTi | View protein in SMART SM00028, TPR, 8 hits |
SUPFAMi | SSF48452, SSF48452, 2 hits |
PROSITEi | View protein in PROSITE PS50005, TPR, 8 hits PS50293, TPR_REGION, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q96RK4-1) [UniParc]FASTAAdd to basket
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
MAEERVATRT QFPVSTESQK PRQKKAPEFP ILEKQNWLIH LHYIRKDYEA
60 70 80 90 100
CKAVIKEQLQ ETQGLCEYAI YVQALIFRLE GNIQESLELF QTCAVLSPQS
110 120 130 140 150
ADNLKQVARS LFLLGKHKAA IEVYNEAAKL NQKDWEISHN LGVCYIYLKQ
160 170 180 190 200
FNKAQDQLHN ALNLNRHDLT YIMLGKIHLL EGDLDKAIEV YKKAVEFSPE
210 220 230 240 250
NTELLTTLGL LYLQLGIYQK AFEHLGNALT YDPTNYKAIL AAGSMMQTHG
260 270 280 290 300
DFDVALTKYR VVACAVPESP PLWNNIGMCF FGKKKYVAAI SCLKRANYLA
310 320 330 340 350
PFDWKILYNL GLVHLTMQQY ASAFHFLSAA INFQPKMGEL YMLLAVALTN
360 370 380 390 400
LEDIENAKRA YAEAVHLDKC NPLVNLNYAV LLYNQGEKKN ALAQYQEMEK
410 420 430 440 450
KVSLLKDNSS LEFDSEMVEM AQKLGAALQV GEALVWTKPV KDPKSKHQTT
460 470 480 490 500
STSKPASFQQ PLGSNQALGQ AMSSAAAYRT LPSGAGGTSQ FTKPPSLPLE
510
PEPAVESSPT ETSEQIREK
Computationally mapped potential isoform sequencesi
There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH3BSL2 | H3BSL2_HUMAN | Bardet-Biedl syndrome 4 protein | BBS4 | 281 | Annotation score: | ||
H3BQV7 | H3BQV7_HUMAN | Bardet-Biedl syndrome 4 protein | BBS4 | 141 | Annotation score: | ||
H3BU58 | H3BU58_HUMAN | Bardet-Biedl syndrome 4 protein | BBS4 | 180 | Annotation score: | ||
H3BPP7 | H3BPP7_HUMAN | Bardet-Biedl syndrome 4 protein | BBS4 | 142 | Annotation score: | ||
H3BUU1 | H3BUU1_HUMAN | Bardet-Biedl syndrome 4 protein | BBS4 | 103 | Annotation score: | ||
H3BSE2 | H3BSE2_HUMAN | Bardet-Biedl syndrome 4 protein | BBS4 | 67 | Annotation score: | ||
H3BV56 | H3BV56_HUMAN | Bardet-Biedl syndrome 4 protein | BBS4 | 33 | Annotation score: | ||
H3BN76 | H3BN76_HUMAN | Bardet-Biedl syndrome 4 protein | BBS4 | 77 | Annotation score: | ||
H3BRY9 | H3BRY9_HUMAN | Bardet-Biedl syndrome 4 protein | BBS4 | 20 | Annotation score: | ||
H3BUQ7 | H3BUQ7_HUMAN | Bardet-Biedl syndrome 4 protein | BBS4 | 50 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_038894 | 46 | K → R2 PublicationsCorresponds to variant dbSNP:rs75295839EnsemblClinVar. | 1 | |
Natural variantiVAR_066287 | 61 | E → K Found in patients with Bardet-Biedl syndrome carrying mutations in other BBS genes; uncertain pathological role. 1 PublicationCorresponds to variant dbSNP:rs1251827333Ensembl. | 1 | |
Natural variantiVAR_017049 | 165 | N → H in BBS4. 1 Publication | 1 | |
Natural variantiVAR_028722 | 268 | E → K. Corresponds to variant dbSNP:rs11638283Ensembl. | 1 | |
Natural variantiVAR_013170 | 295 | R → P in BBS4. 1 PublicationCorresponds to variant dbSNP:rs121434632EnsemblClinVar. | 1 | |
Natural variantiVAR_017050 | 327 | L → P in BBS4. 1 Publication | 1 | |
Natural variantiVAR_038895 | 351 | L → R in BBS4. 1 Publication | 1 | |
Natural variantiVAR_017054 | 354 | I → T3 PublicationsCorresponds to variant dbSNP:rs2277598EnsemblClinVar. | 1 | |
Natural variantiVAR_017051 | 364 | A → E in BBS4. 1 PublicationCorresponds to variant dbSNP:rs28938468EnsemblClinVar. | 1 | |
Natural variantiVAR_038896 | 368 | D → G in BBS4. 1 PublicationCorresponds to variant dbSNP:rs772548770EnsemblClinVar. | 1 | |
Natural variantiVAR_028723 | 393 | A → V1 PublicationCorresponds to variant dbSNP:rs17852452Ensembl. | 1 | |
Natural variantiVAR_066288 | 412 | E → D in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS1; uncertain pathological role. 1 PublicationCorresponds to variant dbSNP:rs147202164EnsemblClinVar. | 1 | |
Natural variantiVAR_017052 | 457 | S → I in BBS4. 1 Publication | 1 | |
Natural variantiVAR_017053 | 472 | M → V in BBS4. 2 PublicationsCorresponds to variant dbSNP:rs2277596EnsemblClinVar. | 1 | |
Natural variantiVAR_066289 | 488 | T → K in a patient with Bardet-Biedl syndrome homozygous for a mutation in BBS12; uncertain pathological role. 1 PublicationCorresponds to variant dbSNP:rs561284402EnsemblClinVar. | 1 | |
Natural variantiVAR_038897 | 503 | P → L in BBS4. Corresponds to variant dbSNP:rs756419611Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_047507 | 1 – 172 | Missing in isoform 3. 1 PublicationAdd BLAST | 172 | |
Alternative sequenceiVSP_024410 | 1 – 8 | MAEERVAT → MALTVVPSFSVSGVWK in isoform 2. 1 Publication | 8 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF359281 mRNA Translation: AAK58868.1 AY457143 mRNA Translation: AAS13441.1 AK075321 mRNA Translation: BAC11547.1 AK303706 mRNA Translation: BAG64690.1 AC009712 Genomic DNA No translation available. BC008923 mRNA Translation: AAH08923.2 BC027624 mRNA Translation: AAH27624.1 |
CCDSi | CCDS10246.1 [Q96RK4-1] CCDS58377.1 [Q96RK4-3] |
RefSeqi | NP_001239607.1, NM_001252678.1 [Q96RK4-3] NP_001307594.1, NM_001320665.1 NP_149017.2, NM_033028.4 [Q96RK4-1] XP_011520150.1, XM_011521848.1 [Q96RK4-3] XP_011520151.1, XM_011521849.1 [Q96RK4-3] XP_016877940.1, XM_017022451.1 XP_016877941.1, XM_017022452.1 [Q96RK4-3] XP_016877942.1, XM_017022453.1 [Q96RK4-3] XP_016877943.1, XM_017022454.1 [Q96RK4-3] |
Genome annotation databases
Ensembli | ENST00000268057; ENSP00000268057; ENSG00000140463 [Q96RK4-1] ENST00000395205; ENSP00000378631; ENSG00000140463 [Q96RK4-3] |
GeneIDi | 585 |
KEGGi | hsa:585 |
UCSCi | uc002avb.4, human [Q96RK4-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Mutations of the BBS4 gene Retina International's Scientific Newsletter |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF359281 mRNA Translation: AAK58868.1 AY457143 mRNA Translation: AAS13441.1 AK075321 mRNA Translation: BAC11547.1 AK303706 mRNA Translation: BAG64690.1 AC009712 Genomic DNA No translation available. BC008923 mRNA Translation: AAH08923.2 BC027624 mRNA Translation: AAH27624.1 |
CCDSi | CCDS10246.1 [Q96RK4-1] CCDS58377.1 [Q96RK4-3] |
RefSeqi | NP_001239607.1, NM_001252678.1 [Q96RK4-3] NP_001307594.1, NM_001320665.1 NP_149017.2, NM_033028.4 [Q96RK4-1] XP_011520150.1, XM_011521848.1 [Q96RK4-3] XP_011520151.1, XM_011521849.1 [Q96RK4-3] XP_016877940.1, XM_017022451.1 XP_016877941.1, XM_017022452.1 [Q96RK4-3] XP_016877942.1, XM_017022453.1 [Q96RK4-3] XP_016877943.1, XM_017022454.1 [Q96RK4-3] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6XT9 | electron microscopy | 3.80 | D | 1-519 | [»] | |
SMRi | Q96RK4 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 107060, 45 interactors |
ComplexPortali | CPX-1908, BBSome complex |
CORUMi | Q96RK4 |
DIPi | DIP-46540N |
IntActi | Q96RK4, 65 interactors |
STRINGi | 9606.ENSP00000268057 |
PTM databases
iPTMneti | Q96RK4 |
PhosphoSitePlusi | Q96RK4 |
Genetic variation databases
BioMutai | BBS4 |
DMDMi | 160359000 |
Proteomic databases
EPDi | Q96RK4 |
MassIVEi | Q96RK4 |
MaxQBi | Q96RK4 |
PaxDbi | Q96RK4 |
PeptideAtlasi | Q96RK4 |
PRIDEi | Q96RK4 |
ProteomicsDBi | 5732 77975 [Q96RK4-1] 77976 [Q96RK4-2] |
Protocols and materials databases
Antibodypediai | 26730, 279 antibodies |
DNASUi | 585 |
Genome annotation databases
Ensembli | ENST00000268057; ENSP00000268057; ENSG00000140463 [Q96RK4-1] ENST00000395205; ENSP00000378631; ENSG00000140463 [Q96RK4-3] |
GeneIDi | 585 |
KEGGi | hsa:585 |
UCSCi | uc002avb.4, human [Q96RK4-1] |
Organism-specific databases
CTDi | 585 |
DisGeNETi | 585 |
GeneCardsi | BBS4 |
GeneReviewsi | BBS4 |
HGNCi | HGNC:969, BBS4 |
HPAi | ENSG00000140463, Low tissue specificity |
MalaCardsi | BBS4 |
MIMi | 600374, gene 615982, phenotype |
neXtProti | NX_Q96RK4 |
OpenTargetsi | ENSG00000140463 |
Orphaneti | 110, Bardet-Biedl syndrome |
PharmGKBi | PA25278 |
VEuPathDBi | HostDB:ENSG00000140463.13 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1124, Eukaryota |
GeneTreei | ENSGT00940000158166 |
HOGENOMi | CLU_033477_1_0_1 |
InParanoidi | Q96RK4 |
OMAi | NPRMGEL |
PhylomeDBi | Q96RK4 |
TreeFami | TF324966 |
Enzyme and pathway databases
PathwayCommonsi | Q96RK4 |
Reactomei | R-HSA-5620922, BBSome-mediated cargo-targeting to cilium |
Miscellaneous databases
BioGRID-ORCSi | 585, 3 hits in 871 CRISPR screens |
ChiTaRSi | BBS4, human |
GeneWikii | BBS4 |
GenomeRNAii | 585 |
Pharosi | Q96RK4, Tbio |
PROi | PR:Q96RK4 |
RNActi | Q96RK4, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000140463, Expressed in right uterine tube and 216 other tissues |
ExpressionAtlasi | Q96RK4, baseline and differential |
Genevisiblei | Q96RK4, HS |
Family and domain databases
Gene3Di | 1.25.40.10, 3 hits |
InterProi | View protein in InterPro IPR028786, BBS4 IPR013026, TPR-contain_dom IPR011990, TPR-like_helical_dom_sf IPR019734, TPR_repeat |
PANTHERi | PTHR44186, PTHR44186, 1 hit |
Pfami | View protein in Pfam PF13181, TPR_8, 2 hits |
SMARTi | View protein in SMART SM00028, TPR, 8 hits |
SUPFAMi | SSF48452, SSF48452, 2 hits |
PROSITEi | View protein in PROSITE PS50005, TPR, 8 hits PS50293, TPR_REGION, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | BBS4_HUMAN | |
Accessioni | Q96RK4Primary (citable) accession number: Q96RK4 Secondary accession number(s): B4E178 Q96H45 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 2, 2002 |
Last sequence update: | October 23, 2007 | |
Last modified: | February 10, 2021 | |
This is version 191 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, Reference proteomeDocuments
- Human chromosome 15
Human chromosome 15: 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