Gene
sharpin
- ID
- ZDB-GENE-101223-1
- Name
- SHANK-associated RH domain interacting protein
- Symbol
- sharpin Nomenclature History
- Previous Names
-
- sipl1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to enable ubiquitin binding activity and ubiquitin-protein transferase activity. Acts upstream of or within embryonic cranial skeleton morphogenesis; eye morphogenesis; and otic vesicle morphogenesis. Predicted to be part of LUBAC complex. Is expressed in brain; eye; otic vesicle; and pharyngeal arch. Orthologous to human SHARPIN (SHANK associated RH domain interactor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Landgraf et al., 2010
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Landgraf et al., 2010
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Targeting Reagent | Created Alleles | Citations |
---|---|---|
MO1-sharpin | N/A | Landgraf et al., 2010 |
MO2-sharpin | N/A | Landgraf et al., 2010 |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Autoinflammation with episodic fever and immune dysregulation | 620795 |
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Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR001876 | Zinc finger, RanBP2-type |
Domain | IPR031912 | Sharpin, PH domain |
Family | IPR051628 | Linear Ubiquitination-Associated E3 Ligases |
Homologous_superfamily | IPR011993 | PH-like domain superfamily |
Homologous_superfamily | IPR029071 | Ubiquitin-like domain superfamily |
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Domain Details Per Protein
Protein | Additional Resources | Length | Linear Ubiquitination-Associated E3 Ligases | PH-like domain superfamily | Sharpin, PH domain | Ubiquitin-like domain superfamily | Zinc finger, RanBP2-type | Zinc finger, RanBP2-type superfamily |
---|---|---|---|---|---|---|---|---|
UniProtKB:X1WDE8 | InterPro | 394 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
sharpin-201
(1)
|
Ensembl | 4,149 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-33C14 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_001333445 (1) | 4019 nt | ||
Genomic | GenBank:CU693494 (1) | 98358 nt | ||
Polypeptide | UniProtKB:X1WDE8 (1) | 394 aa |
- Cheung, C.T., Nguyen, T.V., Le Cam, A., Patinote, A., Journot, L., Reynes, C., Bobe, J. (2019) What makes a bad egg? Egg transcriptome reveals dysregulation of translational machinery and novel fertility genes important for fertilization. BMC Genomics. 20:584
- 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
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- Landgraf, K., Bollig, F., Trowe, M.O., Besenbeck, B., Ebert, C., Kruspe, D., Kispert, A., Hänel, F., and Englert, C. (2010) Sipl1 and Rbck1 are novel Eya1-binding proteins with a role in craniofacial development. Molecular and cellular biology. 30(24):5764-5775
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