Gene
sptan1
- ID
- ZDB-GENE-051113-60
- Name
- spectrin alpha, non-erythrocytic 1
- Symbol
- sptan1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to enable actin filament binding activity. Acts upstream of or within clustering of voltage-gated sodium channels and myelination in peripheral nervous system. Located in node of Ranvier and paranode region of axon. Is expressed in several structures, including bone tissue; cranial ganglion; eye; immature eye; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 11 and developmental and epileptic encephalopathy 5. Orthologous to human SPTAN1 (spectrin alpha, non-erythrocytic 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 16 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la013969Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la021806Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa1515 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa5681 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa23878 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa23879 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa23880 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa23881 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa45731 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| st60 | Allele with one point mutation | Unknown | Premature Stop | ENU |
1 - 10 of 12
Show
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant distal hereditary motor neuronopathy 11 | Alliance | Neuronopathy, distal hereditary motor, autosomal dominant 11 | 620528 |
| developmental and epileptic encephalopathy 5 | Alliance | Developmental and epileptic encephalopathy 5 | 613477 |
| Developmental delay with or without epilepsy | 620540 | ||
| Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | 620538 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR018247 | EF-Hand 1, calcium-binding site |
| Domain | IPR001452 | SH3 domain |
| Domain | IPR002048 | EF-hand domain |
| Domain | IPR014837 | EF-hand, Ca insensitive |
| Domain | IPR035825 | Alpha Spectrin, SH3 domain |
| Homologous_superfamily | IPR011992 | EF-hand domain pair |
| Homologous_superfamily | IPR036028 | SH3-like domain superfamily |
| Repeat | IPR002017 | Spectrin repeat |
| Repeat | IPR018159 | Spectrin/alpha-actinin |
Domain Details Per Protein
| Protein | Additional Resources | Length | Alpha Spectrin, SH3 domain | EF-Hand 1, calcium-binding site | EF-hand, Ca insensitive | EF-hand domain | EF-hand domain pair | SH3 domain | SH3-like domain superfamily | Spectrin/alpha-actinin | Spectrin repeat |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A3FG33 | InterPro | 2480 | |||||||||
| UniProtKB:A0A8M9P3B0 | InterPro | 2474 | |||||||||
| UniProtKB:A0A8M9PCM4 | InterPro | 2496 | |||||||||
| UniProtKB:A0A8M9PQF8 | InterPro | 2474 | |||||||||
| UniProtKB:A0A8M9PCN0 | InterPro | 2485 | |||||||||
| UniProtKB:A0A8M9P3A5 | InterPro | 2490 | |||||||||
| UniProtKB:A0A8M9PQF2 | InterPro | 2501 | |||||||||
| UniProtKB:A0A8M9PI94 | InterPro | 2481 | |||||||||
| UniProtKB:A0A8M9PTV0 | InterPro | 2475 | |||||||||
| UniProtKB:A0A8M9PI97 | InterPro | 2455 | |||||||||
| UniProtKB:A0A8M9PCN5 | InterPro | 2460 | |||||||||
| UniProtKB:A0AB32T7V1 | InterPro | 2480 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
sptan1-201
(1)
|
Ensembl | 7,875 nt | ||
| mRNA |
sptan1-202
(1)
|
Ensembl | 1,766 nt | ||
| mRNA |
sptan1-204
(1)
|
Ensembl | 538 nt | ||
| ncRNA |
spna2-003
(1)
|
Ensembl | 729 nt | ||
| ncRNA |
spna2-005
(1)
|
Ensembl | 861 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-156G19 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-228B2 | ZFIN Curated Data | |
| Contains | STS | chunp311 | ||
| Contains | STS | chunp313 | ||
| Contains | STS | chunp316 | ||
| Encodes | EST | fa20e05 | ||
| Encodes | EST | fb33g08 | ||
| Encodes | EST | fk32a10 | ||
| Encodes | EST | fq36d11 | Rauch et al., 2003 | |
| Encodes | EST | IMAGE:7157190 | Thisse et al., 2004 |
1 - 10 of 12
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001098488 (1) | 7879 nt | ||
| Genomic | GenBank:CR792457 (2) | 163282 nt | ||
| Polypeptide | UniProtKB:A0A8M9PQF2 (1) | 2501 aa |
- Zebrafish Nomenclature Committee (2025) Nomenclature Data Curation (2025). Nomenclature Committee Submission.
- Shen, W.Y., Fu, X.H., Cai, J., Li, W.C., Fan, B.Y., Pang, Y.L., Zhao, C.X., Abula, M., Kong, X.H., Yao, X., Feng, S.Q. (2022) Identification of key genes involved in recovery from spinal cord injury in adult zebrafish. Neural regeneration research. 17:1334-1342
- Farnsworth, D., Posner, M., Miller, A. (2021) Single cell transcriptomics of the developing zebrafish lens and identification of putative controllers of lens development. Experimental Eye Research. 206:108535
- Griffin, A., Carpenter, C., Liu, J., Paterno, R., Grone, B., Hamling, K., Moog, M., Dinday, M.T., Figueroa, F., Anvar, M., Ononuju, C., Qu, T., Baraban, S.C. (2021) Phenotypic analysis of catastrophic childhood epilepsy genes. Communications biology. 4:680
- 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
- Chen, W.C., Wang, Z., Missinato, M.A., Park, D.W., Long, D.W., Liu, H.J., Zeng, X., Yates, N.A., Kim, K., Wang, Y. (2016) Decellularized zebrafish cardiac extracellular matrix induces mammalian heart regeneration. Science advances. 2:e1600844
- 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
- Nolte, H., Konzer, A., Ruhs, A., Jungblut, B., Braun, T., Krüger, M. (2014) Global protein expression profiling of zebrafish organs based on in vivo incorporation of stable isotopes. Journal of Proteome Research. 13:2162-74
- 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
- Susuki, K., Raphael, A.R., Ogawa, Y., Stankewich, M.C., Peles, E., Talbot, W.S., and Rasband, M.N. (2011) Schwann cell spectrins modulate peripheral nerve myelination. Proceedings of the National Academy of Sciences of the United States of America. 108(19):8009-8014
1 - 10 of 14
Show