Gene
emilin1b
- ID
- ZDB-GENE-060818-36
- Name
- elastin microfibril interfacer 1b
- Symbol
- emilin1b Nomenclature History
- Previous Names
-
- fc16f07
- wu:fc16f07
- zgc:136949 (1)
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to be located in extracellular region. Is expressed in several structures, including midbrain; neurocranium; pericardial region; primitive meninx; and tail bud. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 10. Orthologous to human EMILIN1 (elastin microfibril interfacer 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Milanetto et al., 2008
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-emilin1b | Prendergast et al., 2022 | |
| CRISPR2-emilin1b | Prendergast et al., 2022 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant distal hereditary motor neuronopathy 10 | Alliance | Neuronopathy, distal hereditary motor, autosomal dominant 10 | 620080 |
| Arterial tortuosity-bone fragility syndrome | 620908 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Collagen/C1q domain-containing | EMI domain |
|---|---|---|---|---|
| UniProtKB:Q0VA81 | InterPro | 415 | ||
| UniProtKB:A0A8M1NAR4 | InterPro | 1059 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
emilin1b-201
(1)
|
Ensembl | 3,706 nt | ||
| mRNA |
emilin1b-202
(1)
|
Ensembl | 4,012 nt | ||
| mRNA |
emilin1b-203
(1)
|
Ensembl | 3,583 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-256J24 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-35P13 | ZFIN Curated Data | |
| Contains | SNP | rs3728836 | ZFIN Curated Data | |
| Encodes | EST | fc16f07 | ||
| Encodes | cDNA | MGC:136949 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001045342 (1) | 5020 nt | ||
| Genomic | GenBank:CU539063 (2) | 76894 nt | ||
| Polypeptide | UniProtKB:A0A8M1NAR4 (1) | 1059 aa |
- Mizoguchi, T., Okita, M., Minami, Y., Fukunaga, M., Maki, A., Itoh, M. (2023) Age-dependent dysfunction of the cerebrovascular system in the zebrafish telencephalon. Experimental gerontology. 178:112206
- Prendergast, A., Ziganshin, B.A., Papanikolaou, D., Zafar, M.A., Nicoli, S., Mukherjee, S., Elefteriades, J.A. (2022) Phenotyping Zebrafish Mutant Models to Assess Candidate Genes Associated with Aortic Aneurysm. Genes. 13(1):
- 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
- 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
- Rossi, A., Kontarakis, Z., Gerri, C., Nolte, H., Hölper, S., Krüger, M., Stainier, D.Y. (2015) Genetic compensation induced by deleterious mutations but not gene knockdowns. Nature. 524(7564):230-3
- Hu, Y.L., Pan, X.M., Xiang, L.X., and Shao, J.Z. (2010) Characterization of C1Q in teleosts: insight into the molecular and functional evolution of C1Q family and classical pathway. The Journal of biological chemistry. 285(37):28777-28786
- Milanetto, M., Tiso, N., Braghetta, P., Volpin, D., Argenton, F., and Bonaldo, P. (2008) Emilin genes are duplicated and dynamically expressed during zebrafish embryonic development. Developmental Dynamics : an official publication of the American Association of Anatomists. 237(1):222-232
- 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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