Gene
sec61a1b
- ID
- ZDB-GENE-021016-2
- Name
- SEC61 translocon subunit alpha 1b
- Symbol
- sec61a1b Nomenclature History
- Previous Names
-
- cb413 (1)
- sec61a1l
- sec61al2
- sec61b
- wu:fb36f05
- wu:fb36f12
- wu:fb37d04
- wu:fi26f11
- 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. Acts upstream of or within pronephros development. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be part of Sec61 translocon complex. Is expressed in several structures, including EVL; anterior axial hypoblast; axis; ectoderm; and mesoderm. Human ortholog(s) of this gene implicated in common variable immunodeficiency; familial juvenile hyperuricemic nephropathy; and severe congenital neutropenia. Orthologous to human SEC61A1 (SEC61 translocon subunit alpha 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 18 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb413 (17 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Bolar et al., 2016
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa40769 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-sec61a1b | Bolar et al., 2016 | |
| CRISPR2-sec61a1b | Bolar et al., 2016 | |
| CRISPR3-sec61a1b | (2) | |
| MO1-sec61a1b | N/A | Bolar et al., 2016 |
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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 |
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:A0A0J9YIG5 | InterPro | 476 | ||||
| UniProtKB:Q90YL4 | InterPro | 476 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
sec61a1l-201
(1)
|
Ensembl | 2,553 nt | ||
| ncRNA |
sec61a1l-002
(1)
|
Ensembl | 687 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-178O3 | ZFIN Curated Data | |
| Contains | SNP | rs3727996 | ZFIN Curated Data | |
| Encodes | EST | cb413 | Thisse et al., 2001 | |
| Encodes | EST | fb36f05 | ||
| Encodes | EST | fb36f12 | ||
| Encodes | EST | fb37d04 | ||
| Encodes | EST | fb61b01 | Rauch et al., 2003 | |
| Encodes | EST | fc60f11 | Rauch et al., 2003 | |
| Encodes | EST | fi26f11 | ||
| Encodes | cDNA | MGC:55672 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_201577 (1) | 2550 nt | ||
| Genomic | GenBank:BX957236 (1) | 211391 nt | ||
| Polypeptide | UniProtKB:A0A0J9YIG5 (1) | 476 aa |
- Unal Eroglu, A., Mulligan, T.S., Zhang, L., White, D.T., Sengupta, S., Nie, C., Lu, N.Y., Qian, J., Xu, L., Pei, W., Burgess, S.M., Saxena, M.T., Mumm, J.S. (2018) Multiplexed CRISPR/Cas9 Targeting of Genes Implicated in Retinal Regeneration and Degeneration. Frontiers in cell and developmental biology. 6:88
- 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
- Du, Z., Chen, X., Li, X., He, K., Ji, S., Shi, W., Hao, A. (2016) Protein palmitoylation activate zygotic gene expression during the maternal-to-zygotic transition. Biochemical and Biophysical Research Communications. 475(2):194-201
- 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
- Hu, M.C., Gong, H.Y., Lin, G.H., Hu, S.Y., Chen, M.H., Huang, S.J., Liao, C.F., and Wu, J.L. (2007) XBP-1, a key regulator of unfolded protein response, activates transcription of IGF1 and Akt phosphorylation in zebrafish embryonic cell line. Biochemical and Biophysical Research Communications. 359(3):778-783
- 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
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