Gene
loxhd1a
- ID
- ZDB-GENE-091112-20
- Name
- lipoxygenase homology PLAT domains 1a
- Symbol
- loxhd1a Nomenclature History
- Previous Names
-
- loxhd1
- si:ch211-14i19.1
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in Fuchs' endothelial dystrophy; autosomal recessive nonsyndromic deafness 77; and orofacial cleft. Orthologous to human LOXHD1 (lipoxygenase homology PLAT domains 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive nonsyndromic deafness 77 | Alliance | Deafness, autosomal recessive 77 | 613079 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Inner ear hair cell lipoxygenase homology domain-containing protein | PLAT/LH2 domain | PLAT/LH2 domain superfamily |
|---|---|---|---|---|---|
| UniProtKB:A0A8M9PUC9 | InterPro | 1232 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
loxhd1a-201
(1)
|
Ensembl | 6,367 nt | ||
| mRNA |
loxhd1a-202
(1)
|
Ensembl | 6,354 nt | ||
| mRNA |
loxhd1a-203
(1)
|
Ensembl | 5,982 nt | ||
| mRNA |
loxhd1a-204
(1)
|
Ensembl | 6,054 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 | CH211-14I19 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-121H17 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_021468985 (1) | 7553 nt | ||
| Genomic | GenBank:CT025863 (1) | 164813 nt | ||
| Polypeptide | UniProtKB:A0A8M9PUC9 (1) | 1232 aa |
- Smith, E.T., Sun, P., Yu, S.K., Raible, D.W., Nicolson, T. (2023) Differential expression of mechanotransduction complex genes in auditory/vestibular hair cells in zebrafish. Frontiers in molecular neuroscience. 16:12748221274822
- Matern, M.S., Beirl, A., Ogawa, Y., Song, Y., Paladugu, N., Kindt, K.S., Hertzano, R. (2018) Transcriptomic Profiling of Zebrafish Hair Cells Using RiboTag. Frontiers in cell and developmental biology. 6:47
- 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
- Varshney, G.K., Pei, W., LaFave, M.C., Idol, J., Xu, L., Gallardo, V., Carrington, B., Bishop, K., Jones, M., Li, M., Harper, U., Huang, S.C., Prakash, A., Chen, W., Sood, R., Ledin, J., Burgess, S.M. (2015) High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9. Genome research. 25(7):1030-42
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