Gene
acvrl1
- ID
- ZDB-GENE-021003-1
- Name
- activin A receptor like type 1
- Symbol
- acvrl1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable SMAD binding activity and transforming growth factor beta receptor activity, type I. Acts upstream of or within several processes, including artery morphogenesis; blood vessel endothelial cell migration; and determination of ventral identity. Predicted to be located in membrane. Predicted to be part of BMP receptor complex. Predicted to be active in plasma membrane. Is expressed in cardiovascular system and liver. Used to study arteriovenous malformation. Human ortholog(s) of this gene implicated in hereditary hemorrhagic telangiectasia and pulmonary hypertension. Orthologous to human ACVRL1 (activin A receptor like type 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu653 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 25 figures from 10 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary hemorrhagic telangiectasia | Alliance | Telangiectasia, hereditary hemorrhagic, type 2 | 600376 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| arteriovenous malformation | WT + MO3-acvrl1 | standard conditions | Walcott, 2014 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR008271 | Serine/threonine-protein kinase, active site |
| Binding_site | IPR017441 | Protein kinase, ATP binding site |
| Domain | IPR000719 | Protein kinase domain |
| Domain | IPR001245 | Serine-threonine/tyrosine-protein kinase, catalytic domain |
| Domain | IPR003605 | GS domain |
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Domain Details Per Protein
| Protein | Length | GS domain | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Serine/threonine-protein kinase, active site | Serine-threonine/tyrosine-protein kinase, catalytic domain | Ser/Thr protein kinase, TGFB receptor | Snake toxin-like superfamily |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PKJ3
|
502 | ||||||||
|
UniProtKB:A0A8M9P4Z5
|
507 | ||||||||
|
UniProtKB:A0A8M3B616
|
504 | ||||||||
|
UniProtKB:Q8JFB0
|
499 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
acvrl1-201
(1)
|
Ensembl | 2,794 nt | ||
| mRNA |
acvrl1-202
(1)
|
Ensembl | 2,321 nt |
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Interactions and Pathways
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| AB1-acvr1l | polyclonal | Rabbit |
|
2 |
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Plasmids
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-169D8 | ZFIN Curated Data | |
| Encodes | EST | eu653 | Thisse et al., 2005 | |
| Encodes | EST | zehn1109 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:111915 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_153643 (1) | 2674 nt | ||
| Genomic | GenBank:CR387931 (1) | 144701 nt | ||
| Polypeptide | UniProtKB:A0A8M9P4Z5 (1) | 507 aa |
- Lalonde, R.L., Nicolas, H.A., Cutler, R.S., Pantekidis, I., Zhang, W., Yelick, P.C. (2023) Functional comparison of human ACVR1 and zebrafish Acvr1l FOP-associated variants in embryonic zebrafish. Developmental Dynamics : an official publication of the American Association of Anatomists. 252(5):605-628
- Zhai, Y., Zhang, X., Zhao, C., Geng, R., Wu, K., Yuan, M., Ai, N., Ge, W. (2023) Rescue of bmp15 deficiency in zebrafish by mutation of inha reveals mechanisms of BMP15 regulation of folliculogenesis. PLoS Genetics. 19:e1010954e1010954
- Hsu, P.J., Wang, H.D., Tseng, Y.C., Pan, S.W., Sampurna, B.P., Jong, Y.J., Yuh, C.H. (2021) L-Carnitine ameliorates congenital myopathy in a tropomyosin 3 de novo mutation transgenic zebrafish. Journal of Biomedical Science. 28:8
- Ka, J., Kim, J.D., Pak, B., Han, O., Choi, W., Kim, H., Jin, S.W. (2020) Bone Morphogenetic Protein Signaling Restricts Proximodistal Extension of the Ventral Fin Fold. Frontiers in cell and developmental biology. 8:603306
- Sidhwani, P., Leerberg, D.M., Boezio, G.L.M., Capasso, T.L., Yang, H., Chi, N.C., Roman, B.L., Stainier, D.Y.R., Yelon, D. (2020) Cardiac function modulates endocardial cell dynamics to shape the cardiac outflow tract. Development (Cambridge, England). 147(12):
- Ando, K., Wang, W., Peng, D., Chiba, A., Lagendijk, A., Barske, L., Crump, J.G., Stainier, D.Y.R., Lendahl, U., Koltowska, K., Hogan, B.M., Fukuhara, S., Mochizuki, N., Betsholtz, C. (2019) Peri-arterial specification of vascular mural cells from naïve mesenchyme requires Notch signaling. Development (Cambridge, England). 146(2):
- Capasso, T.L., Li, B., Volek, H.J., Khalid, W., Rochon, E.R., Anbalagan, A., Herdman, C., Yost, H.J., Villanueva, F.S., Kim, K., Roman, B.L. (2019) BMP10-mediated ALK1 signaling is continuously required for vascular development and maintenance. Angiogenesis. 23(2):203-220
- Lu, T., Zhang, T., Wang, C., Yang, N., Pan, Y.H., Dang, S., Zhang, W. (2019) Adamts18 deficiency in zebrafish embryo causes defective trunk angiogenesis and caudal vein plexus formation. Biochemical and Biophysical Research Communications. 521(4):907-913
- Neal, A., Nornes, S., Payne, S., Wallace, M.D., Fritzsche, M., Louphrasitthiphol, P., Wilkinson, R.N., Chouliaras, K.M., Liu, K., Plant, K., Sholapurkar, R., Ratnayaka, I., Herzog, W., Bond, G., Chico, T., Bou-Gharios, G., De Val, S. (2019) Venous identity requires BMP signalling through ALK3. Nature communications. 10:453
- Watterston, C., Zeng, L., Onabadejo, A., Childs, S.J. (2019) MicroRNA26 attenuates vascular smooth muscle maturation via endothelial BMP signalling. PLoS Genetics. 15:e1008163
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