Gene
klhl40a
- ID
- ZDB-GENE-050916-1
- Name
- kelch-like family member 40a
- Symbol
- klhl40a Nomenclature History
- Previous Names
-
- kbtbd5
- kbtbd5a
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Acts upstream of or within skeletal muscle fiber development and swimming. Predicted to be located in A band and I band. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. Is expressed in several structures, including eye; heart; integument; skeletal muscle; and somite. Human ortholog(s) of this gene implicated in nemaline myopathy 8. Orthologous to human KLHL40 (kelch like family member 40).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Ravenscroft et al., 2013
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Ravenscroft et al., 2013
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-klhl40a | Mansur et al., 2023 | |
| CRISPR2-klhl40a | Mansur et al., 2023 | |
| MO1-klhl40a | N/A | Ravenscroft et al., 2013 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| nemaline myopathy 8 | Alliance | Nemaline myopathy 8, autosomal recessive | 615348 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000210 | BTB/POZ domain |
| Domain | IPR011705 | BTB/Kelch-associated |
| Domain | IPR030607 | Kelch-like protein 40, BTB/POZ domain |
| Family | IPR017096 | BTB-kelch protein |
| Homologous_superfamily | IPR011333 | SKP1/BTB/POZ domain superfamily |
| Homologous_superfamily | IPR015915 | Kelch-type beta propeller |
| Repeat | IPR006652 | Kelch repeat type 1 |
Domain Details Per Protein
| Protein | Additional Resources | Length | BTB/Kelch-associated | BTB-kelch protein | BTB/POZ domain | Kelch-like protein 40, BTB/POZ domain | Kelch repeat type 1 | Kelch-type beta propeller | SKP1/BTB/POZ domain superfamily |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:B3DIV9 | InterPro | 612 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
klhl40a-201
(1)
|
Ensembl | 2,528 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-145C23 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:194571 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001128682 (1) | 1958 nt | ||
| Genomic | GenBank:CU464125 (1) | 98223 nt | ||
| Polypeptide | UniProtKB:B3DIV9 (1) | 612 aa |
- Mansur, A., Joseph, R., Kim, E., Jean-Beltran, P.M., Udeshi, N.D., Pearce, C., Jiang, H., Iwase, R., Milev, M.P., Almousa, H.A., McNamara, E., Widrick, J., Perez, C., Ravenscroft, G., Sacher, M., Cole, P.A., Carr, S.A., Gupta, V.A. (2023) Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset. eLIFE. 12:
- 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
- Feiner, N., Murakami, Y., Breithut, L., Mazan, S., Meyer, A., and Kuraku, S. (2013) Saltatory evolution of the ectodermal neural cortex (ENC) gene family at the vertebrate origin. Genome biology and evolution. 5(8):1485-502
- Ravenscroft, G., Miyatake, S., Lehtokari, V.L., Todd, E.J., Vornanen, P., Yau, K.S., Hayashi, Y.K., Miyake, N., Tsurusaki, Y., Doi, H., Saitsu, H., Osaka, H., Yamashita, S., Ohya, T., Sakamoto, Y., Koshimizu, E., Imamura, S., Yamashita, M., Ogata, K., Shiina, M., Bryson-Richardson, R.J., Vaz, R., Ceyhan, O., Brownstein, C.A., Swanson, L.C., Monnot, S., Romero, N.B., Amthor, H., Kresoje, N., Sivadorai, P., Kiraly-Borri, C., Haliloglu, G., Talim, B., Orhan, D., Kale, G., Charles, A.K., Fabian, V.A., Davis, M.R., Lammens, M., Sewry, C.A., Manzur, A., Muntoni, F., Clarke, N.F., North, K.N., Bertini, E., Nevo, Y., Willichowski, E., Silberg, I.E., Topaloglu, H., Beggs, A.H., Allcock, R.J., Nishino, I., Wallgren-Pettersson, C., Matsumoto, N., and Laing, N.G. (2013) Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy. American journal of human genetics. 93(1):6-18
- 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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