Gene
hmgcra
- ID
- ZDB-GENE-040401-2
- Name
- 3-hydroxy-3-methylglutaryl-CoA reductase a
- Symbol
- hmgcra Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable hydroxymethylglutaryl-CoA reductase (NADPH) activity. Acts upstream of or within skeletal muscle tissue development. Predicted to be located in endoplasmic reticulum; membrane; and peroxisome. Predicted to be active in endoplasmic reticulum membrane and peroxisomal membrane. Is expressed in brain; gut; inner ear; intestine; and liver. Human ortholog(s) of this gene implicated in several diseases, including attention deficit hyperactivity disorder; coronary artery disease (multiple); diabetes mellitus (multiple); muscular disease (multiple); and neurodegenerative disease (multiple). Orthologous to human HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 34 figures from 25 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Hanai et al., 2007
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa16920 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa33708 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa33709 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa40555 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-hmgcra | (2) | |
| MO1-hmgcra | N/A | Hanai et al., 2007 |
| MO2-hmgcra | N/A | Hanai et al., 2007 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive limb-girdle muscular dystrophy type 28 | Alliance | Muscular dystrophy, limb-girdle, autosomal recessive 28 | 620375 |
| [Low density lipoprotein cholesterol level QTL 3] | 620410 | ||
| [Statins, response to] | 620410 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR023076 | Hydroxymethylglutaryl-CoA reductase, class I/II, conserved site |
| Domain | IPR000731 | Sterol-sensing domain |
| Domain | IPR053958 | HMGCR/SNAP/NPC1-like, sterol-sensing domain |
| Family | IPR002202 | Hydroxymethylglutaryl-CoA reductase, class I/II |
| Family | IPR004554 | Hydroxymethylglutaryl-CoA reductase, eukaryotic/archaeal type |
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Domain Details Per Protein
| Protein | Additional Resources | Length | HMGCR/SNAP/NPC1-like, sterol-sensing domain | Hydroxymethylglutaryl-CoA reductase, class I/II | Hydroxymethylglutaryl-CoA reductase, class I/II, catalytic domain superfamily | Hydroxymethylglutaryl-CoA reductase, class I/II, conserved site | Hydroxymethylglutaryl-CoA reductase, class I/II, NAD/NADP-binding domain superfamily | Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding domain superfamily | Hydroxymethylglutaryl-CoA reductase, eukaryotic/archaeal type | Hydroxymethylglutaryl-CoA reductase, metazoan | Hydroxymethylglutaryl-CoA reductase, N-terminal | Sterol-sensing domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A9JSZ0 | InterPro | 884 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
hmgcra-201
(1)
|
Ensembl | 3,895 nt | ||
| mRNA |
hmgcra-202
(1)
|
Ensembl | 2,930 nt | ||
| mRNA |
hmgcra-203
(1)
|
Ensembl | 4,304 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 | CH211-129A6 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-106O5 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:136576 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:174232 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001079977 (1) | 3895 nt | ||
| Genomic | GenBank:BX511209 (1) | 159017 nt | ||
| Polypeptide | UniProtKB:A9JSZ0 (1) | 884 aa |
- Li, Q., Pei, R., Chen, E., Zheng, F., Zhang, Y., Meng, S. (2024) Efficacy of Jiuzao polysaccharides in ameliorating alcoholic fatty liver disease and modulating gut microbiota. Heliyon. 10:e26167e26167
- Lin, B., Wan, H., Yang, J., Yu, L., Zhou, H., Wan, H. (2024) Lipid regulation of protocatechualdehyde and hydroxysafflor yellow A via AMPK/SREBP2/PCSK9/LDLR signaling pathway in hyperlipidemic zebrafish. Heliyon. 10:e24908e24908
- Liu, N., Zhang, P., Xue, M., Zhang, M., Huang, Z., Xu, C., Meng, Y., Fan, Y., Liu, W., Zhang, F., Chen, P., Zhou, Y. (2024) Hypolipidemic Effect of Rice Bran Oil Extract Tocotrienol in High-Fat Diet-Induced Hyperlipidemia Zebrafish (Danio Rerio) Induced by High-Fat Diet. International Journal of Molecular Sciences. 25(5):
- Yinger, R.V., Evangelisto, C.J., Tucker, N.C., Billingsley, J.M., Clair, S.L.S. (2024) β-Estradiol Supplementation Regulates Cholesterol Synthesis Independent of Unsaturated Fat Consumption in Adult Zebrafish. Zebrafish. 21:223230223-230
- Yu, H.C., Bai, Q.R., Guo, J.J., Chen, M.Y., Wang, L., Tong, F.C., Zhang, S.L., Wu, J. (2024) Elucidating hydroxysafflor yellow A's multi-target mechanisms against alcoholic liver disease through integrative pharmacology. Phytomedicine : international journal of phytotherapy and phytopharmacology. 134:155956155956
- Zhang, F., Tang, C., Wang, J., Lin, T., Ge, W., He, C., Yang, C., Zuo, Z. (2024) Letrozole induced a polycystic ovary syndrome model in zebrafish by interfering with the hypothalamic-pituitary-gonadal axis. Environmental pollution (Barking, Essex : 1987). 347:123723
- Deng, R., Medico-Salsench, E., Nikoncuk, A., Ramakrishnan, R., Lanko, K., Kühn, N.A., van der Linde, H.C., Lor-Zade, S., Albuainain, F., Shi, Y., Yousefi, S., Capo, I., van den Herik, E.M., van Slegtenhorst, M., van Minkelen, R., Geeven, G., Mulder, M.T., Ruijter, G.J.G., Lütjohann, D., Jacobs, E.H., Houlden, H., Pagnamenta, A.T., Metcalfe, K., Jackson, A., Banka, S., De Simone, L., Schwaede, A., Kuntz, N., Palculict, T.B., Abbas, S., Umair, M., AlMuhaizea, M., Colak, D., AlQudairy, H., Alsagob, M., Pereira, C., Trunzo, R., Karageorgou, V., Bertoli-Avella, A.M., Bauer, P., Bouman, A., Hoefsloot, L.H., van Ham, T.J., Issa, M., Zaki, M.S., Gleeson, J.G., Willemsen, R., Kaya, N., Arold, S.T., Maroofian, R., Sanderson, L.E., Barakat, T.S. (2023) AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model. Acta Neuropathologica. 146(2):353-368
- Drepanos, L., Gans, I.M., Grendler, J., Guitar, S., Fuqua, J.H., Maki, N.J., Tilden, A.R., Graber, J.H., Coffman, J.A. (2023) Loss of Krüppel-like factor 9 deregulates both physiological gene expression and development. Scientific Reports. 13:1223912239
- Gora, A.H., Rehman, S., Dias, J., Fernandes, J.M.O., Olsvik, P.A., Sørensen, M., Kiron, V. (2023) Microbial oil, alone or paired with β-glucans, can control hypercholesterolemia in a zebrafish model. Biochimica et biophysica acta. Molecular and cell biology of lipids. 1868(11):159383
- Le Mentec, H., Monniez, E., Legrand, A., Monvoisin, C., Lagadic-Gossmann, D., Podechard, N. (2023) A New In Vivo Zebrafish Bioassay Evaluating Liver Steatosis Identifies DDE as a Steatogenic Endocrine Disruptor, Partly through SCD1 Regulation. International Journal of Molecular Sciences. 24(4):
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