Gene
l1camb
- ID
- ZDB-GENE-980526-512
- Name
- L1 cell adhesion molecule, paralog b
- Symbol
- l1camb Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable cell-cell adhesion mediator activity. Involved in cartilage morphogenesis and positive regulation of gene expression. Acts upstream of or within axon regeneration. Predicted to be located in axonal growth cone. Predicted to be active in axon and plasma membrane. Is expressed in nervous system; pectoral fin; and pharyngeal arch. Human ortholog(s) of this gene implicated in MASA syndrome; hydrocephalus; ovarian carcinoma; pancreatic cancer; and schizophrenia. Orthologous to human L1CAM (L1 cell adhesion molecule).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 21 figures from 10 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cssl:d824 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa756 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa12283 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa37581 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa39389 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-l1camb | N/A | (5) |
| MO2-l1camb | N/A | (2) |
| MO3-l1camb | N/A | Linneberg et al., 2019 |
| MO4-l1camb | N/A | Linneberg et al., 2019 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hydrocephalus | Alliance | Hydrocephalus, congenital, X-linked | 307000 |
| MASA syndrome | Alliance | MASA syndrome | 303350 |
| ?Corpus callosum, partial agenesis of | 304100 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Fibronectin type III | Fibronectin type III superfamily | Immunoglobulin domain subtype | Immunoglobulin I-set | Immunoglobulin-like beta-sandwich domain | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 | Neurofascin/L1/NrCAM, C-terminal domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q6U7I5 | InterPro | 1269 | ||||||||||
| UniProtKB:A0A8M3AY05 | InterPro | 1094 | ||||||||||
| UniProtKB:Q90478 | InterPro | 1197 | ||||||||||
| UniProtKB:A0AB32TBH5 | InterPro | 1264 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
l1camb-201
(1)
|
Ensembl | 4,529 nt | ||
| ncRNA |
nadl1.1-002
(1)
|
Ensembl | 405 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 | DKEYP-44B8 | ZFIN Curated Data | |
| Encodes | EST | fa30h05 | ZFIN Curated Data | |
| Encodes | cDNA | cssl:d824 | Bushell et al., 2007 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131383 (1) | 4052 nt | ||
| Genomic | GenBank:BX323461 (1) | 169310 nt | ||
| Polypeptide | UniProtKB:Q6U7I5 (1) | 1269 aa |
- Song, Z., Han, A., Hu, B. (2024) Thymosin β4 promotes zebrafish Mauthner axon regeneration by facilitating actin polymerization through binding to G-actin. BMC Biology. 22:244244
- Tao, T., Shi, H., Mariani, L., Abraham, B.J., Durbin, A.D., Zimmerman, M.W., Powers, J.T., Missios, P., Ross, K.N., Perez-Atayde, A.R., Bulyk, M.L., Young, R.A., Daley, G.Q., Look, A.T. (2020) LIN28B regulates transcription and potentiates MYCN-induced neuroblastoma through binding to ZNF143 at target gene promotors. Proceedings of the National Academy of Sciences of the United States of America. 117(28):16516-16526
- Yang, S., Emelyanov, A., You, M.S., Sin, M., Korzh, V. (2020) Camel regulates development of the brain ventricular system. Cell and tissue research. 383(2):835-852
- Linneberg, C., Toft, C.L.F., Kjaer-Sorensen, K., Laursen, L.S. (2019) L1cam-mediated developmental processes of the nervous system are differentially regulated by proteolytic processing. Scientific Reports. 9:3716
- Li, R., Sahu, S., Schachner, M. (2018) Phenelzine, a cell adhesion molecule L1 mimetic small organic compound, promotes functional recovery and axonal regrowth in spinal cord-injured zebrafish. Pharmacology, biochemistry, and behavior. 171:30-38
- 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
- Sahu, S., Zhang, Z., Li, R., Hu, J., Shen, H., Loers, G., Shen, Y., Schachner, M. (2017) A Small Organic Compound Mimicking the L1 Cell Adhesion Molecule Promotes Functional Recovery after Spinal Cord Injury in Zebrafish. Molecular neurobiology. 55(1):859-878
- Hörnberg, H., Cioni, J.M., Harris, W.A., Holt, C.E. (2016) Hermes Regulates Axon Sorting in the Optic Tract by Post-Trancriptional Regulation of Neuropilin 1. The Journal of neuroscience : the official journal of the Society for Neuroscience. 36:12697-12706
- Julien, C., Lissouba, A., Madabattula, S., Fardghassemi, Y., Rosenfelt, C., Androschuk, A., Strautman, J., Wong, C., Bysice, A., O'Sullivan, J., Rouleau, G.A., Drapeau, P., Parker, J.A., Bolduc, F.V. (2016) Conserved pharmacological rescue of hereditary spastic paraplegia-related phenotypes across model organisms. Human molecular genetics. 25(6):1088-99
- 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
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