Gene
snapc4
- ID
- ZDB-GENE-030131-5794
- Name
- small nuclear RNA activating complex, polypeptide 4
- Symbol
- snapc4 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable RNA polymerase III type 3 promoter sequence-specific DNA binding activity. Predicted to contribute to RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within intrahepatic bile duct development and pancreas development. Predicted to be located in nucleus. Predicted to be part of snRNA-activating protein complex. Is expressed in brain; digestive system; and head. Orthologous to human SNAPC4 (small nuclear RNA activating complex polypeptide 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
la025147Tg | Transgenic insertion | Unknown | Unknown | DNA | |
m1045 | Allele with one point mutation | Exon 10 | Premature Stop | ENU | |
s445 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa26575 | Allele with one point mutation | Unknown | Unknown | ENU | |
sa38504 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
MO1-snapc4 | N/A | Schaub et al., 2012 |
MO2-snapc4 | N/A | Schaub et al., 2012 |
MO3-snapc4 | N/A | Schaub et al., 2012 |
MO4-snapc4 | N/A | Voz et al., 2012 |
MO5-snapc4 | N/A | Voz et al., 2012 |
MO6-snapc4 | N/A | Voz et al., 2012 |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction | 620515 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Homedomain-like superfamily | Myb domain | Myb-like DNA-binding | SANT domain | SANT/Myb domain |
---|---|---|---|---|---|---|---|
UniProtKB:F1QVS5 | InterPro | 1561 | |||||
UniProtKB:I1V1W6 | InterPro | 1557 | |||||
UniProtKB:A0A8M3ASS0 | InterPro | 1598 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
snapc4-201
(1)
|
Ensembl | 9,947 nt | ||
mRNA |
snapc4-202
(1)
|
Ensembl | 631 nt | ||
mRNA |
snapc4-203
(1)
|
Ensembl | 1,880 nt | ||
mRNA |
snapc4-204
(1)
|
Ensembl | 9,852 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 | CH73-214K13 | ZFIN Curated Data | |
Contained in | BAC | DKEY-1O2 | ZFIN Curated Data | |
Encodes | EST | fi18h02 |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001258410 (1) | 5371 nt | ||
Genomic | GenBank:CR381619 (2) | 236334 nt | ||
Polypeptide | UniProtKB:A0A8M3ASS0 (1) | 1598 aa |
- Casey, M.A., Hill, J.T., Hoshijima, K., Bryan, C.D., Gribble, S.L., Brown, J.T., Chien, C.B., Yost, H.J., Kwan, K.M. (2021) Shutdown corner, a large deletion mutant isolated from a haploid mutagenesis screen in zebrafish. G3 (Bethesda). 12(3):
- Lee, Y.R., Khan, K., Armfield-Uhas, K., Srikanth, S., Thompson, N.A., Pardo, M., Yu, L., Norris, J.W., Peng, Y., Gripp, K.W., Aleck, K.A., Li, C., Spence, E., Choi, T.I., Kwon, S.J., Park, H.M., Yu, D., Do Heo, W., Mooney, M.R., Baig, S.M., Wentzensen, I.M., Telegrafi, A., McWalter, K., Moreland, T., Roadhouse, C., Ramsey, K., Lyons, M.J., Skinner, C., Alexov, E., Katsanis, N., Stevenson, R.E., Choudhary, J.S., Adams, D.J., Kim, C.H., Davis, E.E., Schwartz, C.E. (2020) Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. Nature communications. 11:3698
- 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
- Wilkins, B.J., and Pack, M. (2013) Zebrafish models of human liver development and disease. Comprehensive Physiology. 3(3):1213-1230
- Schaub, M., Nussbaum, J., Verkade, H., Ober, E.A., Stainier, D.Y., and Sakaguchi, T.F. (2012) Mutation of zebrafish Snapc4 is associated with loss of the intrahepatic biliary network. Developmental Biology. 363(1):128-137
- Voz, M.L., Coppieters, W., Manfroid, I., Baudhuin, A., Von Berg, V., Charlier, C., Meyer, D., Driever, W., Martial, J.A., and Peers, B. (2012) Fast Homozygosity Mapping and Identification of a Zebrafish ENU-Induced Mutation by Whole-Genome Sequencing. PLoS One. 7(4):e34671
- Chang, M.X., Chen, W.Q., and Nie, P. (2010) Structure and expression pattern of teleost caspase recruitment domain (CARD) containing proteins that are potentially involved in NF-kappaB signalling. Developmental and comparative immunology. 34(1):1-13
- 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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