Gene
fhl1a
- ID
- ZDB-GENE-040206-1
- Name
- four and a half LIM domains 1a
- Symbol
- fhl1a Nomenclature History
- Previous Names
-
- fhla
- zgc:92025
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable transmembrane transporter binding activity. Acts upstream of or within heart development; locomotory behavior; and skeletal muscle satellite cell differentiation. Located in Z disc. Is expressed in several structures, including adaxial cell; blastomere; heart rudiment; musculature system; and pericardial region. Used to study myopathy. Human ortholog(s) of this gene implicated in Uruguay faciocardiomusculoskeletal syndrome; X-linked Emery-Dreifuss muscular dystrophy 6; reducing body myopathy 1A; and reducing body myopathy 1B. Orthologous to human FHL1 (four and a half LIM domains 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 19 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu340 (12 images)
- IMAGE:7156115 (19 images)
Wild Type Expression Summary
- All Phenotype Data
- 14 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| reducing body myopathy 1A | Alliance | Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset | 300717 |
| reducing body myopathy 1B | Alliance | Reducing body myopathy, X-linked 1b, with late childhood or adult onset | 300718 |
| scapuloperoneal myopathy | Alliance | Scapuloperoneal myopathy, X-linked dominant | 300695 |
| Uruguay faciocardiomusculoskeletal syndrome | Alliance | ?Uruguay faciocardiomusculoskeletal syndrome | 300280 |
| X-linked Emery-Dreifuss muscular dystrophy 6 | Alliance | Emery-Dreifuss muscular dystrophy 6, X-linked | 300696 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| myopathy | WT + MO3-fhl1a | standard conditions | Keßler et al., 2018 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Four and a half LIM domains protein 1 | Zinc finger, LIM-type |
|---|---|---|---|---|
| UniProtKB:A0A140LFQ9 | InterPro | 281 | ||
| UniProtKB:Q6GQL7 | InterPro | 297 |
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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 | DKEY-100E19 | ZFIN Curated Data | |
| Encodes | EST | eu340 | Thisse et al., 2005 | |
| Encodes | EST | IMAGE:7156115 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:92025 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:191234 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001007287 (1) | 1435 nt | ||
| Genomic | GenBank:BX511227 (1) | 262038 nt | ||
| Polypeptide | UniProtKB:Q6GQL7 (1) | 297 aa |
- Dennhag, N., Kahsay, A., Nissen, I., Nord, H., Chermenina, M., Liu, J., Arner, A., Liu, J.X., Backman, L.J., Remeseiro, S., von Hofsten, J., Pedrosa Domellöf, F. (2024) fhl2b mediates extraocular muscle protection in zebrafish models of muscular dystrophies and its ectopic expression ameliorates affected body muscles. Nature communications. 15:19501950
- Giffen, K.P., Liu, H., Kramer, K.L., He, D.Z. (2019) Expression of Protein-Coding Gene Orthologs in Zebrafish and Mouse Inner Ear Non-sensory Supporting Cells. Frontiers in neuroscience. 13:1117
- Chen, F., Yuan, W., Mo, X., Zhuang, J., Wang, Y., Chen, J., Jiang, Z., Zhu, X., Zeng, Q., Wan, Y., Li, F., Shi, Y., Cao, L., Fan, X., Luo, S., Ye, X., Chen, Y., Dai, G., Gao, J., Wang, X., Xie, H., Zhu, P., Li, Y., Wu, X. (2018) Role of zebrafish fhl1A in satellite cell and skeletal muscle development. Current Molecular Medicine. 17(9):627-636
- Keßler, M., Kieltsch, A., Kayvanpour, E., Katus, H.A., Schoser, B., Schessl, J., Just, S., Rottbauer, W. (2018) A zebrafish model for FHL1-opathy reveals loss-of-function effects of human FHL1 mutations. Neuromuscular disorders : NMD. 28(6):521-531
- Bührdel, J.B., Hirth, S., Keßler, M., Westphal, S., Forster, M., Manta, L., Wiche, G., Schoser, B., Schessl, J., Schröder, R., Clemen, C.S., Eichinger, L., Fürst, D.O., van der Ven, P.F., Rottbauer, W., Just, S. (2015) In vivo characterization of human myofibrillar myopathy genes in zebrafish. Biochemical and Biophysical Research Communications. 461(2):217-23
- Xie, H., Fan, X., Tang, X., Wan, Y., Chen, F., Wang, X., Wang, Y., Li, Y., Tang, M., Liu, D., Jiang, Z., Liu, X., Yuan, W., Li, G., Ye, X., Zhou, J., Deng, Y., and Wu, X. (2013) The LIM protein fhlA is essential for heart chamber development in zebrafish embryos. Current Molecular Medicine. 13(6):979-92
- Poon, K.L., Liebling, M., Kondrychyn, I., Garcia-Lecea, M., and Korzh, V. (2010) Zebrafish cardiac enhancer trap lines: New tools for in vivo studies of cardiovascular development and disease. Developmental Dynamics : an official publication of the American Association of Anatomists. 239(3):914-926
- 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
- Morgan, M.J. and Madgwick, A.J. (1999) The LIM proteins FHL1 and FHL3 are expressed differently in skeletal muscle. Biochemical and Biophysical Research Communications. 255(2):245-250
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