Gene
sema3aa
- ID
- ZDB-GENE-991209-3
- Name
- sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3Aa
- Symbol
- sema3aa Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Predicted to enable chemorepellent activity; neuropilin binding activity; and semaphorin receptor binding activity. Acts upstream of or within blood vessel morphogenesis and nervous system development. Predicted to be located in extracellular region. Predicted to be active in several cellular components, including axon; extracellular space; and glutamatergic synapse. Is expressed in several structures, including anterior neural rod; brain; head; immature eye; and muscle. Human ortholog(s) of this gene implicated in hypogonadotropic hypogonadism 16 with or without anosmia. Orthologous to human SEMA3A (semaphorin 3A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 16 figures from 11 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa10241 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa10272 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa13618 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa18414 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa20226 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-sema3aa | van der Klaauw et al., 2019 | |
| CRISPR2-sema3aa | van der Klaauw et al., 2019 | |
| MO1-sema3aa | N/A | (4) |
| MO2-sema3aa | N/A | (2) |
| MO3-sema3aa | N/A | (4) |
| MO4-sema3aa | N/A | Torres-Vazquez et al., 2004 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hypogonadotropic hypogonadism 16 with or without anosmia | Alliance | {Hypogonadotropic hypogonadism 16 with or without anosmia} | 614897 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Immunoglobulin domain subtype | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | PSI domain | Sema domain | Sema domain superfamily | Semaphorin | WD40/YVTN repeat-like-containing domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q9W7J1 | InterPro | 860 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
sema3aa-201
(1)
|
Ensembl | 4,617 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(hsp70l:EGFP-sema3aa-6xMYC) |
|
| 2 | (6) | |
| Tg(myl7:sema3aa) |
|
| 1 | (2) |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-108D22 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-217M24 | ZFIN Curated Data | |
| Encodes | EST | af086761 | ||
| Encodes | EST | IMAGE:7147098 | Thisse et al., 2004 | |
| Encodes | cDNA | cssl:d405 | Bushell et al., 2007 | |
| Encodes | cDNA | MGC:194050 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:194078 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131060 (1) | 3148 nt | ||
| Genomic | GenBank:BX469931 (1) | 204487 nt | ||
| Polypeptide | UniProtKB:Q9W7J1 (1) | 860 aa |
- Hipke, K., Pitter, B., Hruscha, A., van Bebber, F., Modic, M., Bansal, V., Lewandowski, S.A., Orozco, D., Edbauer, D., Bonn, S., Haass, C., Pohl, U., Montanez, E., Schmid, B. (2023) Loss of TDP-43 causes ectopic endothelial sprouting and migration defects through increased fibronectin, vcam 1 and integrin α4/β1. Frontiers in cell and developmental biology. 11:11699621169962
- Britto, D.D., He, J., Misa, J.P., Chen, W., Kakadia, P.M., Grimm, L., Herbert, C.D., Crosier, K.E., Crosier, P.S., Bohlander, S.K., Hogan, B.M., Hall, C.J., Torres-Vázquez, J., Astin, J.W. (2022) Plexind1 negatively regulates zebrafish lymphatic development. Development (Cambridge, England). 149(21)
- Fazio, M., van Rooijen, E., Dang, M., van de Hoek, G., Ablain, J., Mito, J.K., Yang, S., Thomas, A., Michael, J., Fabo, T., Modhurima, R., Pessina, P., Kaufman, C.K., Zhou, Y., White, R.M., Zon, L.I. (2021) SATB2 induction of a neural crest mesenchyme-like program drives melanoma invasion and drug resistance. eLIFE. 10:
- Gong, G., Kam, H., Tse, Y.C., Giesy, J.P., Seto, S.W., Lee, S.M. (2020) Forchlorfenuron (CPPU) causes disorganization of the cytoskeleton and dysfunction of human umbilical vein endothelial cells, and abnormal vascular development in zebrafish embryos. Environmental pollution (Barking, Essex : 1987). 271:115791
- Takamiya, M., Stegmaier, J., Kobitski, A.Y., Schott, B., Weger, B.D., Margariti, D., Cereceda Delgado, A.R., Gourain, V., Scherr, T., Yang, L., Sorge, S., Otte, J.C., Hartmann, V., van Wezel, J., Stotzka, R., Reinhard, T., Schlunck, G., Dickmeis, T., Rastegar, S., Mikut, R., Nienhaus, G.U., Strähle, U. (2020) Pax6 organizes the anterior eye segment by guiding two distinct neural crest waves. PLoS Genetics. 16:e1008774
- He, Z., Crenshaw, E., Raper, J.A. (2019) Semaphorin/neuropilin binding specificities are stable over 400 million years of evolution. Biochemical and Biophysical Research Communications. 517(1):23-28
- van der Klaauw, A.A., Croizier, S., Mendes de Oliveira, E., Stadler, L.K.J., Park, S., Kong, Y., Banton, M.C., Tandon, P., Hendricks, A.E., Keogh, J.M., Riley, S.E., Papadia, S., Henning, E., Bounds, R., Bochukova, E.G., Mistry, V., O'Rahilly, S., Simerly, R.B., INTERVAL, UK10K Consortium, Minchin, J.E.N., Barroso, I., Jones, E.Y., Bouret, S.G., Farooqi, I.S. (2019) Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance. Cell. 176(4):729-742.e18
- Ward, R., Ali, Z., Slater, K., Reynolds, A.L., Jensen, L.D., Kennedy, B.N. (2019) Pharmacological restoration of visual function in a zebrafish model of von-Hippel Lindau disease. Developmental Biology. 457(2):226-234
- Xue, Y., Liu, D., Cui, G., Ding, Y., Ai, D., Gao, S., Zhang, Y., Suo, S., Wang, X., Lv, P., Zhou, C., Li, Y., Chen, X., Peng, G., Jing, N., Han, J.J., Liu, F. (2019) A 3D Atlas of Hematopoietic Stem and Progenitor Cell Expansion by Multi-dimensional RNA-Seq Analysis. Cell Reports. 27:1567-1578.e5
- Minchin, J.E.N., Scahill, C.M., Staudt, N., Busch-Nentwich, E.M., Rawls, J.F. (2018) Deep phenotyping in zebrafish reveals genetic and diet-induced adiposity changes that may inform disease risk. Journal of Lipid Research. 59(8):1536-1545
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