C57BL/6JCya-Tbc1d31em1/Cya
Common Name:
Tbc1d31-KO
Product ID:
S-KO-17948
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Tbc1d31-KO
Strain ID
KOCMP-210544-Tbc1d31-B6J-VB
Gene Name
Product ID
S-KO-17948
Gene Alias
4B3; D330013L20Rik; Gm85; Wdr67
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
15
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Tbc1d31em1/Cya mice (Catalog S-KO-17948) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000022992
NCBI RefSeq
NM_001081396
Target Region
Exon 3~8
Size of Effective Region
~22.8 kb
Detailed Document
Overview of Gene Research
Tbc1d31, a Rab GTPase activating protein, is involved in multiple biological processes. It assembles a complex at centrosomes with E3 ubiquitin ligase praja2, protein kinase A (PKA), and OFD1, playing a crucial role in primary ciliogenesis. This process links GPCR signalling to ubiquitylation and proteolysis of OFD1, which is important for cilium biology and development [1].
In hepatocellular carcinoma (HCC), genomic amplification of Tbc1d31 promotes tumour growth and metastasis. It reduces the Rab22A-mediated endolysosomal trafficking and degradation of EGFR, activating EGFR signalling. Additionally, ZSCAN16 can activate TBC1D31 transcriptionally, accelerating HCC progression [2,3]. A homozygous missense variant in Tbc1d31 has been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans [4]. In breast cancer, Tbc1d31 is among TBC1 domain-containing proteins expressed at higher levels in triple-negative breast cancers, correlating with elevated glycolytic metabolism [5].
In conclusion, Tbc1d31 is essential for primary ciliogenesis and is involved in multiple disease conditions such as HCC, CAKUT, and triple-negative breast cancer. Studies on Tbc1d31 contribute to understanding biological processes and disease mechanisms, potentially offering new therapeutic strategies for these diseases.
References：
1. Senatore, Emanuela, Chiuso, Francesco, Rinaldi, Laura, Conte, Ivan, Feliciello, Antonio. 2021. The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylation. In The EMBO journal, 40, e106503. doi:10.15252/embj.2020106503. https://pubmed.ncbi.nlm.nih.gov/33934390/
2. Cao, Pengbo, Chen, Hongxia, Zhang, Ying, He, Fuchu, Zhou, Gangqiao. 2024. Genomic Amplification of TBC1D31 Promotes Hepatocellular Carcinoma Through Reducing the Rab22A-Mediated Endolysosomal Trafficking and Degradation of EGFR. In Advanced science (Weinheim, Baden-Wurttemberg, Germany), 11, e2405459. doi:10.1002/advs.202405459. https://pubmed.ncbi.nlm.nih.gov/39206796/
3. Wang, Xiaofang, Xiao, Bo, Zhong, Fuping, Wang, Qibo, Jiang, Jihao. 2024. ZSCAN16 expedites hepatocellular carcinoma progression via activating TBC1D31. In Cell division, 19, 31. doi:10.1186/s13008-024-00135-9. https://pubmed.ncbi.nlm.nih.gov/39511655/
4. Saygılı, Seha, Koşukcu, Can, Baştuğ, Turgut, Çalışkan, Salim, Ozaltin, Fatih. 2023. A novel homozygous missense variant in TBC1D31 in a consanguineous family with congenital anomalies of the kidney and urinary tract (CAKUT). In Clinical genetics, 104, 679-685. doi:10.1111/cge.14406. https://pubmed.ncbi.nlm.nih.gov/37468454/
5. Lupi, Mariadomenica, Avanzato, Daniele, Confalonieri, Stefano, Di Fiore, Pier Paolo, Lanzetti, Letizia. 2024. TBC1 domain-containing proteins are frequently involved in triple-negative breast cancers in connection with the induction of a glycolytic phenotype. In Cell death & disease, 15, 647. doi:10.1038/s41419-024-07037-2. https://pubmed.ncbi.nlm.nih.gov/39231952/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen