Gene
sec61a1a
- ID
- ZDB-GENE-020418-2
- Name
- SEC61 translocon subunit alpha 1a
- Symbol
- sec61a1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to enable protein transmembrane transporter activity; ribosome binding activity; and signal sequence binding activity. Involved in pronephric nephron development. Acts upstream of or within habenula development. Predicted to be located in endoplasmic reticulum membrane. Predicted to be part of Sec61 translocon complex. Is expressed in several structures, including axis; digestive system; hatching gland; midbrain hindbrain boundary; and polster. Human ortholog(s) of this gene implicated in autosomal dominant tubulointerstitial kidney disease 5; common variable immunodeficiency; and severe congenital neutropenia. Orthologous to human SEC61A1 (SEC61 translocon subunit alpha 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 15 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6907835 (14 images)
Wild Type Expression Summary
- All Phenotype Data
- 15 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| c163 | Allele with one point mutation | Exon 6 | Premature Stop | ENU | |
| hi1058Tg | Transgenic insertion | Intron 1 | Unknown | DNA | |
| hi2839bTg | Transgenic insertion | Intron 1 | Unknown | DNA | |
| la011479Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa31532 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa40755 | 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 |
|---|---|---|---|
| autosomal dominant tubulointerstitial kidney disease 5 | Alliance | Tubulointerstitial kidney disease, autosomal dominant, 5 | 617056 |
| Immunodeficiency, common variable, 15 | 620670 | ||
| ?Neutropenia, severe congenital, 11, autosomal dominant | 620674 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | SecY conserved site | SecY domain superfamily | SecY/SEC61-alpha family | Translocon Sec61/SecY, plug domain |
|---|---|---|---|---|---|---|
| UniProtKB:Q90ZM2 | InterPro | 476 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
sec61a1-201
(1)
|
Ensembl | 2,586 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-197J19 | ZFIN Curated Data | |
| Encodes | EST | fb62c11 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:6907835 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:55256 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:76848 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_153659 (1) | 2586 nt | ||
| Genomic | GenBank:CU467879 (2) | 109354 nt | ||
| Polypeptide | UniProtKB:Q90ZM2 (1) | 476 aa |
- Uszczynska-Ratajczak, B., Sugunan, S., Kwiatkowska, M., Migdal, M., Carbonell-Sala, S., Sokol, A., Winata, C.L., Chacinska, A. (2022) Profiling subcellular localization of nuclear-encoded mitochondrial gene products in zebrafish. Life science alliance. 6(1):
- Colucci-Guyon, E., Rifflet, A., Saint-Auret, S., da Costa, A., Boucontet, L., Laval, T., Prehaud, C., Blanchard, N., Levraud, J.P., Boneca, I.G., Demangel, C., Guenin-Macé, L. (2020) Spatiotemporal analysis of mycolactone distribution in vivo reveals partial diffusion in the central nervous system. PLoS neglected tropical diseases. 14:e0008878
- Saddala, M.S., Lennikov, A., Bouras, A., Huang, H. (2020) RNA-Seq reveals differential expression profiles and functional annotation of genes involved in retinal degeneration in Pde6c mutant Danio rerio. BMC Genomics. 21:132
- Pei, W., Xu, L., Huang, S.C., Pettie, K., Idol, J., Rissone, A., Jimenez, E., Sinclair, J.W., Slevin, C., Varshney, G.K., Jones, M., Carrington, B., Bishop, K., Huang, H., Sood, R., Lin, S., Burgess, S.M. (2018) Guided genetic screen to identify genes essential in the regeneration of hair cells and other tissues. NPJ Regenerative medicine. 3:11
- 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
- Bolar, N.A., Golzio, C., Živná, M., Hayot, G., Van Hemelrijk, C., Schepers, D., Vandeweyer, G., Hoischen, A., Huyghe, J.R., Raes, A., Matthys, E., Sys, E., Azou, M., Gubler, M.C., Praet, M., Van Camp, G., McFadden, K., Pediaditakis, I., Přistoupilová, A., Hodaňová, K., Vyleťal, P., Hartmannová, H., Stránecký, V., Hůlková, H., Barešová, V., Jedličková, I., Sovová, J., Hnízda, A., Kidd, K., Bleyer, A.J., Spong, R.S., Vande Walle, J., Mortier, G., Brunner, H., Van Laer, L., Kmoch, S., Katsanis, N., Loeys, B.L. (2016) Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia. American journal of human genetics. 99:174-187
- Frøyset, A.K., Khan, E.A., Fladmark, K.E. (2016) Quantitative proteomics analysis of zebrafish exposed to sub-lethal dosages of β-methyl-amino-L-alanine (BMAA). Scientific Reports. 6:29631
- Pashay Ahi, E., Walker, B.S., Lassiter, C.S., Jónsson, Z.O. (2016) Investigation of the effects of estrogen on skeletal gene expression during zebrafish larval head development. PeerJ. 4:e1878
- 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
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