Catalog No.
YHN12701
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Met1-Ser260
Predicted molecular weight
31.77 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
Q8N3I7
Applications
ELISA, Immunogen, SDS-PAGE, WB, Bioactivity testing in progress
Form
Lyophilized
Storage buffer
Lyophilized from a solution in PBS pH 7.4, 0.02% NLS, 1mM EDTA, 4% Trehalose, 1% Mannitol.
Reconstitution
Reconstitute in sterile water for a stock solution. A copy of datasheet will be provided with the products, please refer to it for details.
Shipping
In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise.
Stability and Storage
Use a manual defrost freezer and avoid repeated freeze thaw cycles. Store at 2 to 8°C for frequent use. Store at -20 to -80°C for twelve months from the date of receipt.
Alternative Names
Bardet-Biedl syndrome 5 protein, BBS5
The Immune Checkpoint Protein PD-L1 Regulates Ciliogenesis and Hedgehog Signaling., PMID:38920633
Patterns of Gene Expression, Splicing, and Allele-Specific Expression Vary among Macular Tissues and Clinical Stages of Age-Related Macular Degeneration., PMID:38067097
Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families., PMID:37897612
Comparative single-cell transcriptomic analysis of primate brains highlights human-specific regulatory evolution., PMID:37667001
A review of standardized high-throughput cardiovascular phenotyping with a link to metabolism in mice., PMID:37326672
Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants., PMID:37293956
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects., PMID:37240074
Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome., PMID:37239474
Two novel variants in a Bardet-Biedl syndrome type 5 patient with severe renal phenotype., PMID:35951741
Evolutionarily conserved genetic interactions between nphp-4 and bbs-5 mutations exacerbate ciliopathy phenotypes., PMID:34850872
BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells., PMID:33572860
A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities., PMID:33560420
Photoreceptor cilia, in contrast to primary cilia, grant entry to a partially assembled BBSome., PMID:33517424
Novel compound heterozygous pathogenic BBS5 variants in Filipino siblings with Bardet-Biedl syndrome (BBS)., PMID:32811249
BBSome Component BBS5 Is Required for Cone Photoreceptor Protein Trafficking and Outer Segment Maintenance., PMID:32776140
Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes., PMID:31888296
Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant., PMID:31760295
ERICH3 in Primary Cilia Regulates Cilium Formation and the Localisations of Ciliary Transport and Sonic Hedgehog Signaling Proteins., PMID:31712586
Identification of genes involved in glaucoma pathogenesis using combined network analysis and empirical studies., PMID:31518395
Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model., PMID:31506453
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan., PMID:31173343
Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice., PMID:30901771
Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing., PMID:30850397
Screening for mutation hotspots in Bardet-Biedl syndrome patients from India., PMID:29806606
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons., PMID:29126234
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum., PMID:27708425
Expression of CXCL6 and BBS5 that may be glaucoma relevant genes is regulated by PITX2., PMID:27520585
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome., PMID:27486776
A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina., PMID:26867008
Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling., PMID:26540106
The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan., PMID:26325687
BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors., PMID:26150102
Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery., PMID:25552655
Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein., PMID:24939912
Functional modelling of a novel mutation in BBS5., PMID:24559376
The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome., PMID:24550735
Light-dependent phosphorylation of Bardet-Biedl syndrome 5 in photoreceptor cells modulates its interaction with arrestin1., PMID:23817741
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis., PMID:23432027
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome., PMID:22500027
Genotype-phenotype correlations in Bardet-Biedl syndrome., PMID:22410627
A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened., PMID:22072986
Dopamine receptor 1 localizes to neuronal cilia in a dynamic process that requires the Bardet-Biedl syndrome proteins., PMID:21152952
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population., PMID:20472660
Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients., PMID:18203199
Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis., PMID:17379567
Prevention of warm ischemic injury by neuropeptide bombesin in small bowel transplantation., PMID:16908283
Screening of the eight BBS genes in Tunisian families: no evidence of triallelism., PMID:16877420
Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function., PMID:16399798
For research use only. Not for human or drug use.
