Gene
sh3kbp1
- ID
- ZDB-GENE-091204-186
- Name
- SH3-domain kinase binding protein 1
- Symbol
- sh3kbp1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to enable kinase activity. Acts upstream of or within blood vessel lumenization. Is expressed in axial blood vessel; caudal vein plexus; intermediate mesoderm; and notochord. Human ortholog(s) of this gene implicated in immunodeficiency 61. Orthologous to human SH3KBP1 (SH3 domain containing kinase binding protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Zhao et al., 2013
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Zhao et al., 2013
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
la028626Tg | Transgenic insertion | Unknown | Unknown | DNA | |
mn0283Gt | Transgenic insertion | Unknown | Unknown | DNA | |
sa12980 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa16738 | Allele with one point mutation | Unknown | Splice Site | ENU |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
immunodeficiency 61 | Alliance | ?Immunodeficiency 61 | 300310 |
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Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR001452 | SH3 domain |
Domain | IPR035770 | SH3 domain-containing kinase-binding protein 1, first SH3 domain |
Domain | IPR035772 | SH3 domain-containing kinase-binding protein 1, third SH3 domain |
Family | IPR050384 | Endophilin/SH3RF |
Homologous_superfamily | IPR036028 | SH3-like domain superfamily |
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Domain Details Per Protein
Protein | Additional Resources | Length | Endophilin/SH3RF | SH3 domain | SH3 domain-containing kinase-binding protein 1, first SH3 domain | SH3 domain-containing kinase-binding protein 1, third SH3 domain | SH3-like domain superfamily |
---|---|---|---|---|---|---|---|
UniProtKB:A0A8M9P657 | InterPro | 632 | |||||
UniProtKB:A0A8M9PGF3 | InterPro | 622 | |||||
UniProtKB:A0A8M2B9Q8 | InterPro | 393 | |||||
UniProtKB:A0A8M9PX84 | InterPro | 580 | |||||
UniProtKB:A0A8M1RMS5 | InterPro | 634 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
sh3kbp1-201
(1)
|
Ensembl | 2,007 nt | ||
mRNA |
sh3kbp1-202
(1)
|
Ensembl | 2,651 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | DKEY-108D10 | ZFIN Curated Data | |
Contained in | BAC | DKEY-218C16 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_068219089 (1) | 2371 nt | ||
Genomic | GenBank:CR936282 (1) | 137077 nt | ||
Polypeptide | UniProtKB:A0A8M1RMS5 (1) | 634 aa |
- Ghilardi, A., Diana, A., Prosperi, L., Del Giacco, L. (2020) Expression pattern of the small muscle protein, X-linked (smpx) gene during zebrafish embryonic and larval developmental stages. Gene expression patterns : GEP. 36:119110
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Zhao, Y., and Lin, S. (2013) Essential Role of Sh3gl3 for Vascular Lumen Maintenance in Zebrafish. Arterioscler. Thromb. Vasc. Biol.. 33(6):1280-6
- Clark, K.J., Balciunas, D., Pogoda, H.M., Ding, Y., Westcot, S.E., Bedell, V.M., Greenwood, T.M., Urban, M.D., Skuster, K.J., Petzold, A.M., Ni, J., Nielsen, A.L., Patowary, A., Scaria, V., Sivasubbu, S., Xu, X., Hammerschmidt, M., and Ekker, S.C. (2011) In vivo protein trapping produces a functional expression codex of the vertebrate proteome. Nature Methods. 8(6):506-512
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
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