Gene
tbc1d23
- ID
- ZDB-GENE-040426-1253
- Name
- TBC1 domain family, member 23
- Symbol
- tbc1d23 Nomenclature History
- Previous Names
-
- zgc:63756 (1)
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Involved in embryonic brain development. Acts upstream of or within brain development. Predicted to be located in cytoplasmic vesicle. Predicted to be active in trans-Golgi network. Is expressed in head. Used to study pontocerebellar hypoplasia. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 11. Orthologous to human TBC1D23 (TBC1 domain family member 23).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
pontocerebellar hypoplasia type 11 | Alliance | Pontocerebellar hypoplasia, type 11 | 617695 |
1 - 1 of 1
1 - 3 of 3
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Rab-GAP-TBC domain | Rab-GAP-TBC domain superfamily | Rhodanese-like domain | Rhodanese-like domain superfamily | TBC1 domain family member 23 | TBC1 domain family member 23, C-terminal domain |
---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M2BD99 | InterPro | 695 | ||||||
UniProtKB:Q7SXV1 | InterPro | 680 |
1 - 2 of 2
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
tbc1d23-201
(1)
|
Ensembl | 3,273 nt |
1 - 1 of 1
Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | DKEY-11H2 | ZFIN Curated Data | |
Encodes | EST | IMAGE:6912731 | Thisse et al., 2004 | |
Encodes | cDNA | MGC:63756 | ZFIN Curated Data | |
Encodes | cDNA | MGC:198133 | ZFIN Curated Data |
1 - 4 of 4
Show
Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_200487 (1) | 3300 nt | ||
Genomic | GenBank:BX004878 (1) | 254657 nt | ||
Polypeptide | UniProtKB:A0A8M2BD99 (1) | 695 aa |
- Tu, Y., Yang, Q., Tang, M., Gao, L., Wang, Y., Wang, J., Liu, Z., Li, X., Mao, L., Jia, R.Z., Wang, Y., Tang, T.S., Xu, P., Liu, Y., Dai, L., Jia, D. (2024) TBC1D23 mediates Golgi-specific LKB1 signaling. Nature communications. 15:17851785
- Zhao, L., Deng, H., Yang, Q., Tang, Y., Zhao, J., Li, P., Zhang, S., Yong, X., Li, T., Billadeau, D.D., Jia, D. (2023) FAM91A1-TBC1D23 complex structure reveals human genetic variations susceptible for PCH. Proceedings of the National Academy of Sciences of the United States of America. 120:e2309910120e2309910120
- Liu, D., Yang, F., Liu, Z., Wang, J., Huang, W., Meng, W., Billadeau, D.D., Sun, Q., Mo, X., Jia, D. (2020) Structure of TBC1D23 N-terminus reveals a novel role for rhodanese domain. PLoS Biology. 18:e3000746
- Huang, W., Liu, Z., Yang, F., Zhou, H., Yong, X., Yang, X., Zhou, Y., Xue, L., Zhang, Y., Liu, D., Meng, W., Zhang, W., Zhang, X., Shen, X., Sun, Q., Li, L., Ma, C., Wei, Y., Billadeau, D.D., Mo, X., Jia, D. (2019) Structural and functional studies of TBC1D23 C-terminal domain provide a link between endosomal trafficking and PCH. Proceedings of the National Academy of Sciences of the United States of America. 116(45):22598-22608
- Marin-Valencia, I., Gerondopoulos, A., Zaki, M.S., Ben-Omran, T., Almureikhi, M., Demir, E., Guemez-Gamboa, A., Gregor, A., Issa, M.Y., Appelhof, B., Roosing, S., Musaev, D., Rosti, B., Wirth, S., Stanley, V., Baas, F., Barr, F.A., Gleeson, J.G. (2017) Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. American journal of human genetics. 101(3):441-450
- Petit, D., Teppa, E., Mir, A., Vicogne, D., Thisse, C., Thisse, B., Filloux, C., Harduin-Lepers, A. (2015) Integrative view of α2,3-sialyltransferases (ST3Gal) molecular and functional evolution in deuterostomes: significance of lineage specific losses. Mol. Biol. Evol.. 32(4):906-27
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
1 - 7 of 7
Show