Gene
gab1
- ID
- ZDB-GENE-040426-2674
- Name
- GRB2-associated binding protein 1
- Symbol
- gab1 Nomenclature History
- Previous Names
-
- fb11b01
- fc66d01
- wu:fb11b01
- wu:fc66d01
- zgc:56412 (1)
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to enable signaling adaptor activity. Acts upstream of or within epiboly. Predicted to be active in cytoplasm. Is expressed in brain; heart; inner ear; and swim bladder. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 26. Orthologous to human GAB1 (GRB2 associated binding protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:56412 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Yousaf et al., 2018
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| gyf3 | Allele with one deletion | Exon 2 | Unknown | CRISPR | |
| la021142Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa32710 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| zko663a | Allele with one deletion | Unknown | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-gab1 | (2) | |
| MO1-gab1 | N/A | Yousaf et al., 2018 |
| MO2-gab1 | N/A | Yousaf et al., 2018 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive nonsyndromic deafness 26 | Alliance | ?Deafness, autosomal recessive 26 | 605428 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | GRB2-associated-binding protein 1-4-like | PH-like domain superfamily | Pleckstrin homology domain |
|---|---|---|---|---|
|
UniProtKB:A0A8M9P5A1
|
754 | |||
|
UniProtKB:A0A8M6YVD8
|
742 | |||
|
UniProtKB:A0A8M6YUV9
|
770 | |||
|
UniProtKB:A0A8M9PTD5
|
726 | |||
|
UniProtKB:A0A8M9PWZ6
|
667 |
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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 | CH73-355B6 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-20H20 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-27H10 | ZFIN Curated Data | |
| Encodes | EST | fb11b01 | ||
| Encodes | EST | fc66d01 | ||
| Encodes | cDNA | MGC:56412 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001326713 (1) | 4505 nt | ||
| Genomic | GenBank:BX322570 (1) | 185032 nt | ||
| Polypeptide | UniProtKB:A0A8M6YUV9 (1) | 770 aa |
- Nascimento, L.R.D., Vieira-Silva, G.A., Kitajima, J.P.F.W., Batissoco, A.C., Lezirovitz, K. (2022) New Insights into the Identity of the DFNA58 Gene. Genes. 13(12):
- Postlethwait, J.H., Massaquoi, M.S., Farnsworth, D.R., Yan, Y.L., Guillemin, K., Miller, A.C. (2021) The SARS-CoV-2 receptor and other key components of the Renin-Angiotensin-Aldosterone System related to COVID-19 are expressed in enterocytes in larval zebrafish. Biology Open. 10(3):
- Postlethwait, J.H., Farnsworth, D.R., Miller, A.C. (2020) An intestinal cell type in zebrafish is the nexus for the SARS-CoV-2 receptor and the Renin-Angiotensin-Aldosterone System that contributes to COVID-19 comorbidities. ZFIN Direct Data Submission.
- Yousaf, R., Ahmed, Z.M., Giese, A.P., Morell, R.J., Lagziel, A., Dabdoub, A., Wilcox, E.R., Riazuddin, S., Friedman, T.B., Riazuddin, S. (2018) Modifier variant of METTL13 suppresses human GAB1-associated profound deafness. The Journal of Clinical Investigation. 128(4):1509-1522
- 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
- Wang, L., Fu, C., Fan, H., Du, T., Dong, M., Chen, Y., Jin, Y., Zhou, Y., Deng, M., Gu, A., Jing, Q., Liu, T., and Zhou, Y. (2013) miR-34b regulates multiciliogenesis during organ formation in zebrafish. Development (Cambridge, England). 140(13):2755-2764
- 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
- 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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