Gene
sash1a
- ID
- ZDB-GENE-030131-9960
- Name
- SAM and SH3 domain containing 1a
- Symbol
- sash1a Nomenclature History
- Previous Names
-
- fi33a01
- ik:tdsubc_2e1
- si:dkey-264g21.1
- tdsubc_2e1
- wu:fi33a01 (1)
- xx:tdsubc_2e1
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Acts upstream of or within astrocyte development and swimming behavior. Predicted to be located in cytoplasm. Is expressed in forebrain; hindbrain; midbrain; and spinal cord. Human ortholog(s) of this gene implicated in dyschromatosis universalis hereditaria. Orthologous to human SASH1 (SAM and SH3 domain containing 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Zhou et al., 2023
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la010225Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la021550Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la028245Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa10306 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa11349 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa37072 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa43477 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa43478 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-sash1a | Zhou et al., 2023 | |
| MO1-sash1a | N/A | Zhou et al., 2023 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| dyschromatosis universalis hereditaria | Alliance | Dyschromatosis universalis hereditaria 1 | 127500 |
| ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | 618373 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | SAM and SH3 domain-containing protein | SAM and SH3 domain-containing protein 1, SH3 domain | SASH1, SAM domain repeat 1 | SASH1, SAM domain repeat 2 | SH3 domain | SH3-like domain superfamily | SLy proteins associated disordered region | Sterile alpha motif domain | Sterile alpha motif/pointed domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q5TZ33 | InterPro | 1192 | |||||||||
| UniProtKB:A0A8M9PPD1 | InterPro | 1304 | |||||||||
| UniProtKB:A0A8M9PSQ8 | InterPro | 1326 | |||||||||
| UniProtKB:A0A8M9P2L4 | InterPro | 1471 | |||||||||
| UniProtKB:A0A8M9PHC0 | InterPro | 1338 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
sash1a-201
(1)
|
Ensembl | 7,137 nt | ||
| mRNA |
sash1a-202
(1)
|
Ensembl | 495 nt | ||
| mRNA |
sash1a-203
(1)
|
Ensembl | 3,742 nt | ||
| mRNA |
sash1a-204
(1)
|
Ensembl | 780 nt | ||
| mRNA |
sash1a-205
(1)
|
Ensembl | 718 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 | CH211-279M15 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-220E22 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-264G21 | ZFIN Curated Data | |
| Encodes | EST | fi33a01 | ||
| Encodes | EST | tdsubc_2e1 | ||
| Encodes | cDNA | MGC:162728 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:198337 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001044819 (1) | 5770 nt | ||
| Genomic | GenBank:BX511140 (1) | 166153 nt | ||
| Polypeptide | UniProtKB:A0A8M9PPC5 (1) | 1505 aa |
- Zhou, Z., Wang, P., Wang, Q., Dong, Z., Chen, X., Zhuo, R., Wu, R., Liu, Y., Yang, L., Liu, M. (2023) SASH1 contributes to glial cell migration in the early development of the central nervous system. Developmental Biology. 504:495749-57
- Hu, J., Chen, L., Yin, J., Yin, H., Huang, Y., Tian, J. (2020) Hyperactivity, Memory Defects, and Craniofacial Abnormalities in Zebrafish fmr1 Mutant Larvae. Behavior Genetics. 50(3):152-160
- 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
- Coppola, U., Annona, G., D'Aniello, S., Ristoratore, F. (2016) Rab32 and Rab38 genes in chordate pigmentation: an evolutionary perspective. BMC Evolutionary Biology. 16:26
- 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
- Shamay-Ramot, A., Khermesh, K., Porath, H.T., Barak, M., Pinto, Y., Wachtel, C., Zilberberg, A., Lerer-Goldshtein, T., Efroni, S., Levanon, E.Y., Appelbaum, L. (2015) Fmrp Interacts with Adar and Regulates RNA Editing, Synaptic Density and Locomotor Activity in Zebrafish. PLoS Genetics. 11:e1005702
- 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, 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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