Gene
jag1b
- ID
- ZDB-GENE-011128-4
- Name
- jagged canonical Notch ligand 1b
- Symbol
- jag1b Nomenclature History
- Previous Names
-
- jag3
- jagged1b
- kmi (1)
- puc
- unp1069
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable Notch binding activity. Acts upstream of or within several processes, including exocrine pancreas development; face morphogenesis; and inner ear development. Predicted to be located in membrane. Is expressed in several structures, including digestive system; endocrine system; nervous system; otic vesicle; and pharyngeal arch. Human ortholog(s) of this gene implicated in Alagille syndrome; Charcot-Marie-Tooth disease; congenital heart disease; multiple sclerosis; and tetralogy of Fallot. Orthologous to human JAG1 (jagged canonical Notch ligand 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 38 figures from 34 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 27 figures from 13 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| b1105 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| gd2Gt | Transgenic insertion | Unknown | Unknown | DNA | |
| ion31h | Allele with one deletion | Exon 2 | Unknown | CRISPR | |
| jj59 | Allele with one point mutation | Donor Splice Site | Frameshift | ENU | |
| la018582Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la018583Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa17080 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa18567 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa42247 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sid24 | Allele with one deletion | Exon 25 | Unknown | CRISPR |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Alagille syndrome | Alliance | Alagille syndrome 1 | 118450 |
| tetralogy of Fallot | Alliance | Tetralogy of Fallot | 187500 |
| Charcot-Marie-Tooth disease, axonal, type 2HH | 619574 | ||
| ?Deafness, congenital heart defects, and posterior embryotoxon | 617992 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR013032 | EGF-like, conserved site |
| Conserved_site | IPR018097 | EGF-like calcium-binding, conserved site |
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR001007 | VWFC domain |
| Domain | IPR001774 | Delta/Serrate/lag-2 (DSL) protein |
| Domain | IPR001881 | EGF-like calcium-binding domain |
| Domain | IPR011651 | Notch ligand, N-terminal domain |
| Domain | IPR049883 | NOTCH1 EGF-like calcium-binding domain |
| Family | IPR026219 | Jagged/Serrate protein |
| Homologous_superfamily | IPR009030 | Growth factor receptor cysteine-rich domain superfamily |
| PTM | IPR000152 | EGF-type aspartate/asparagine hydroxylation site |
Domain Details Per Protein
| Protein | Additional Resources | Length | Delta/Serrate/lag-2 (DSL) protein | EGF-like calcium-binding, conserved site | EGF-like calcium-binding domain | EGF-like, conserved site | EGF-like domain | EGF-type aspartate/asparagine hydroxylation site | Growth factor receptor cysteine-rich domain superfamily | Jagged/Serrate protein | NOTCH1 EGF-like calcium-binding domain | Notch ligand, N-terminal domain | VWFC domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q90Y54 | InterPro | 1213 | |||||||||||
| UniProtKB:F1R986 | InterPro | 1213 |
Interactions and Pathways
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(kdrl:Hsa.H2BC11-mScarlet-2A-jag1b) |
| 1 | Zi et al., 2024 |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-159E5 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131863 (1) | 6754 nt | ||
| Genomic | GenBank:CU138575 (2) | 156198 nt | ||
| Polypeptide | UniProtKB:F1R986 (1) | 1213 aa |
- Doll, L., Welte, K., Skokowa, J., Bajoghli, B. (2024) A JAGN1-associated severe congenital neutropenia zebrafish model revealed an altered G-CSFR signaling and UPR activation. Blood advances. 8(15):4050-4065
- Jędrychowska, J., Vardanyan, V., Wieczor, M., Marciniak, A., Czub, J., Amini, R., Jain, R., Shen, H., Choi, H., Kuznicki, J., Korzh, V. (2024) Mutant analysis of Kcng4b reveals how the different functional states of the voltage-gated potassium channel regulate ear development. Developmental Biology. 513:50-62
- Miller, B.M., Goessling, W. (2024) The proteasome subunit psmb1 is essential for craniofacial cartilage maturation and morphogenesis. JCI insight. 9(16):
- Zi, H., Peng, X., Cao, J., Xie, T., Liu, T., Li, H., Bu, J., Du, J., Li, J. (2024) Piezo1-dependent regulation of pericyte proliferation by blood flow during brain vascular development. Cell Reports. 43:113652113652
- Bai, M.R., Pei, H.Y., Zhou, Y., Song, H.L., Pan, W.H., Gong, Y.M., Wu, W.J., Yu, W.W., Cui, M.M., Gu, B.L., Chu, X., Cai, W. (2023) Association analysis and functional follow-up identified common variants of JAG1 accounting for risk to biliary atresia. Frontiers in genetics. 14:11868821186882
- Cotellessa, L., Marelli, F., Duminuco, P., Adamo, M., Papadakis, G.E., Bartoloni, L., Sato, N., Lang-Muritano, M., Troendle, A., Dhillo, W.S., Morelli, A., Guarnieri, G., Pitteloud, N., Persani, L., Bonomi, M., Giacobini, P., Vezzoli, V. (2023) Defective Jagged1 signaling impacts GnRH development and contributes to congenital hypogonadotropic hypogonadism. JCI insight. 8(5):
- Hu, H., Long, Y., Song, G., Chen, S., Xu, Z., Li, Q., Wu, Z. (2023) Dysfunction of Prkcaa Links Social Behavior Defects with Disturbed Circadian Rhythm in Zebrafish. International Journal of Molecular Sciences. 24(4):
- Kondo, M., Kimura, K., Kobayashi-Sun, J., Yamamori, S., Taniguchi, M., Traver, D., Kobayashi, I. (2023) The sinusoidal hematopoietic niche is formed by Jam1a via Notch signaling in the zebrafish kidney. iScience. 26:106508106508
- Jin, M., Zhang, H., Xu, B., Li, Y., Qin, H., Yu, S., He, J. (2022) Jag2b-Notch3/1b-mediated neuron-to-glia crosstalk controls retinal gliogenesis. EMBO reports. 23(10):e54922
- Kraus, J.M., Giovannone, D., Rydzik, R., Balsbaugh, J.L., Moss, I.L., Schwedler, J.L., Bertrand, J.Y., Traver, D., Hankenson, K.D., Crump, J.G., Youngstrom, D.W. (2022) Notch signaling enhances bone regeneration in the zebrafish mandible. Development (Cambridge, England). 149(5)
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