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| # | Reference Title | Reference Citation |
| 1. | Three novel mutations in the activin receptor-like kinase 1 (ALK-1) gene in hereditary hemorrhagic telangiectasia type 2 in Brazilian patients. | Assis AM, etal., J Hum Genet. 2007;52(3):237-43. Epub 2007 Jan 12. |
| 2. | Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype. | Bossler AD, etal., Hum Mutat. 2006 Jul;27(7):667-75. |
| 3. | The transforming growth factor-beta superfamily of receptors. | de Caestecker M Cytokine Growth Factor Rev. 2004 Feb;15(1):1-11. |
| 4. | Ovarian follicle populations of the rat express TGF-beta signalling pathways. | Drummond AE, etal., Mol Cell Endocrinol. 2003 Apr 28;202(1-2):53-7. |
| 5. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 6. | Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation. | Girerd B, etal., Am J Respir Crit Care Med. 2010 Apr 15;181(8):851-61. Epub 2010 Jan 7. |
| 7. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 8. | Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. | Harrison RE, etal., J Med Genet. 2003 Dec;40(12):865-71. |
| 9. | TGF-{beta}1 activates two distinct type I receptors in neurons: implications for neuronal NF-{kappa}B signaling. | Konig HG, etal., J Cell Biol. 2005 Mar 28;168(7):1077-86. Epub 2005 Mar 21. |
| 10. | Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. | Lesca G, etal., Hum Mutat 2004 Apr;23(4):289-99. |
| 11. | Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. | Levy GG, etal., Nature. 2001 Oct 4;413(6855):488-94. |
| 12. | Adenosine protected against pulmonary edema through transporter- and receptor A2-mediated endothelial barrier enhancement. | Lu Q, etal., Am J Physiol Lung Cell Mol Physiol. 2010 Jun;298(6):L755-67. Epub 2010 Mar 12. |
| 13. | [Mutations of ACVRL1 gene in a pedigree with hereditary hemorrhagic telangiectasia]. | Luo JW, etal., Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Jun;25(3):308-10. |
| 14. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 15. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 16. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 17. | Type I receptor serine-threonine kinase preferentially expressed in pulmonary blood vessels. | Panchenko MP, etal., Am J Physiol 1996 Apr;270(4 Pt 1):L547-58. |
| 18. | Activin signal transduction pathways. | Pangas SA and Woodruff TK, Trends Endocrinol Metab. 2000 Oct;11(8):309-14. |
| 19. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 20. | RefSeq and LocusLink: NCBI gene-centered resources | Pruitt KD and Maglott DR, Nucleic Acids Res. 2001 Jan 1;29(1):137-40. |
| 21. | GOA pipeline | RGD automated data pipeline |
| 22. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 23. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 24. | A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2. | Srinivasan S, etal., Hum Mol Genet. 2003 Mar 1;12(5):473-82. |
| 25. | Hypoxia induces alteration of bone morphogenetic protein receptor signaling in pulmonary artery endothelial cell. | Takahashi K, etal., Pediatr Res. 2007 Apr;61(4):392-7. |
| 26. | Tentative Sequence Identification Numbers | Tentative Sequence Data IDs. TIGR Gene Index, Rat Data |
| 27. | Arteriovenous malformations in mice lacking activin receptor-like kinase-1. | Urness LD, etal., Nat Genet 2000 Nov;26(3):328-31. |
| 28. | The TGF-{beta}/Smad2,3 signalling axis is impaired in experimental pulmonary hypertension. | Zakrzewicz A, etal., Eur Respir J. 2007 Mar 28;. |
| PMID:8242742 | PMID:8395914 | PMID:10716993 | PMID:12065756 | PMID:12393874 | PMID:12453878 | PMID:12477932 | PMID:12941632 | PMID:14580334 | PMID:15489334 | PMID:15702480 | PMID:15851468 |
| PMID:17068149 | PMID:17530030 | PMID:17911384 | PMID:19366699 | PMID:19494318 | PMID:19592636 | PMID:19903896 | PMID:20406889 | PMID:22783020 | PMID:23868260 | PMID:25424912 | PMID:26176610 |
| PMID:26540443 | PMID:30262595 | PMID:31322216 |
| Acvrl1 (Rattus norvegicus - Norway rat) |
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| ACVRL1 (Homo sapiens - human) |
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| Acvrl1 (Mus musculus - house mouse) |
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| Acvrl1 (Chinchilla lanigera - long-tailed chinchilla) |
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| ACVRL1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| ACVRL1 (Canis lupus familiaris - dog) |
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| Acvrl1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| ACVRL1 (Sus scrofa - pig) |
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| ACVRL1 (Chlorocebus sabaeus - green monkey) |
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| Acvrl1 (Heterocephalus glaber - naked mole-rat) |
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| Acvrl1 (Rattus rattus - black rat) |
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.
Variants in Acvrl1
58 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| RH133448 |
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| BE100434 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 67 | 165 | 91 | 90 | 59 | 86 | 59 | 6 | 349 | 186 | 11 | 142 | 80 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_022441 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_006242303 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006242304 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006242305 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008765673 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017594667 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017594668 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039078441 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039078443 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039078444 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039078445 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039078446 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039078447 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039078448 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039078449 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063263008 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC119007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| BC083173 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH474035 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| FQ223580 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| L36088 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000008673 ⟹ ENSRNOP00000008673 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000081047 ⟹ ENSRNOP00000072526 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000129074 ⟹ ENSRNOP00000109151 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000162298 ⟹ ENSRNOP00000104153 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_022441 ⟹ NP_071886 | ||||||||||||||||||||||||||||
| RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_006242303 ⟹ XP_006242365 | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_039078441 ⟹ XP_038934369 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_039078443 ⟹ XP_038934371 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_039078444 ⟹ XP_038934372 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_039078445 ⟹ XP_038934373 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_039078446 ⟹ XP_038934374 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_039078447 ⟹ XP_038934375 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_039078448 ⟹ XP_038934376 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_039078449 ⟹ XP_038934377 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_063263008 ⟹ XP_063119078 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Protein RefSeqs | NP_071886 | (Get FASTA) | NCBI Sequence Viewer |
| XP_006242365 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038934369 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038934371 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038934372 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038934373 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038934374 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038934375 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038934376 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038934377 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063119078 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAC37705 | (Get FASTA) | NCBI Sequence Viewer |
| AAH83173 | (Get FASTA) | NCBI Sequence Viewer | |
| EDL86910 | (Get FASTA) | NCBI Sequence Viewer | |
| EDL86911 | (Get FASTA) | NCBI Sequence Viewer | |
| EDL86912 | (Get FASTA) | NCBI Sequence Viewer | |
| EDL86913 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000008673 | ||
| ENSRNOP00000008673.3 | |||
| ENSRNOP00000104153 | |||
| GenBank Protein | P80203 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_071886 ⟸ NM_022441 |
| - Peptide Label: | precursor |
| - UniProtKB: | Q63559 (UniProtKB/Swiss-Prot), P80203 (UniProtKB/Swiss-Prot), A6KCN1 (UniProtKB/TrEMBL), A6KCM9 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_006242365 ⟸ XM_006242303 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q63559 (UniProtKB/Swiss-Prot), P80203 (UniProtKB/Swiss-Prot), A6KCN1 (UniProtKB/TrEMBL), A6KCM9 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000008673 ⟸ ENSRNOT00000008673 |
| Ensembl Acc Id: | ENSRNOP00000072526 ⟸ ENSRNOT00000081047 |
| RefSeq Acc Id: | XP_038934375 ⟸ XM_039078447 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | P80203 (UniProtKB/Swiss-Prot), Q63559 (UniProtKB/Swiss-Prot), A6KCN1 (UniProtKB/TrEMBL), A6KCM9 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_038934369 ⟸ XM_039078441 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | P80203 (UniProtKB/Swiss-Prot), Q63559 (UniProtKB/Swiss-Prot), A6KCN1 (UniProtKB/TrEMBL), A6KCM9 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_038934371 ⟸ XM_039078443 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | P80203 (UniProtKB/Swiss-Prot), Q63559 (UniProtKB/Swiss-Prot), A6KCN1 (UniProtKB/TrEMBL), A6KCM9 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_038934374 ⟸ XM_039078446 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | P80203 (UniProtKB/Swiss-Prot), Q63559 (UniProtKB/Swiss-Prot), A6KCN1 (UniProtKB/TrEMBL), A6KCM9 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_038934373 ⟸ XM_039078445 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | P80203 (UniProtKB/Swiss-Prot), Q63559 (UniProtKB/Swiss-Prot), A6KCN1 (UniProtKB/TrEMBL), A6KCM9 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_038934372 ⟸ XM_039078444 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | P80203 (UniProtKB/Swiss-Prot), Q63559 (UniProtKB/Swiss-Prot), A6KCN1 (UniProtKB/TrEMBL), A6KCM9 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_038934376 ⟸ XM_039078448 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | P80203 (UniProtKB/Swiss-Prot), Q63559 (UniProtKB/Swiss-Prot), A6KCN1 (UniProtKB/TrEMBL), A6KCM9 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_038934377 ⟸ XM_039078449 |
| - Peptide Label: | isoform X2 |
| RefSeq Acc Id: | XP_063119078 ⟸ XM_063263008 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q63559 (UniProtKB/Swiss-Prot), P80203 (UniProtKB/Swiss-Prot), A6KCN1 (UniProtKB/TrEMBL), A6KCM9 (UniProtKB/TrEMBL) |
| Ensembl Acc Id: | ENSRNOP00000104153 ⟸ ENSRNOT00000162298 |
| Ensembl Acc Id: | ENSRNOP00000109151 ⟸ ENSRNOT00000129074 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-P80203-F1-model_v2 | AlphaFold | P80203 | 1-504 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:2029 | AgrOrtholog |
| BioCyc Gene | G2FUF-31998 | BioCyc |
| Ensembl Genes | ENSRNOG00000028713 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Transcript | ENSRNOT00000008673 | ENTREZGENE |
| ENSRNOT00000008673.5 | UniProtKB/Swiss-Prot | |
| ENSRNOT00000162298 | ENTREZGENE | |
| Gene3D-CATH | 2.10.60.10 | UniProtKB/Swiss-Prot |
| Phosphorylase Kinase, domain 1 | UniProtKB/Swiss-Prot | |
| Transferase(Phosphotransferase) domain 1 | UniProtKB/Swiss-Prot | |
| IMAGE_CLONE | IMAGE:7098096 | IMAGE-MGC_LOAD |
| InterPro | GS_dom | UniProtKB/Swiss-Prot |
| Kinase-like_dom_sf | UniProtKB/Swiss-Prot | |
| Prot_kinase_dom | UniProtKB/Swiss-Prot | |
| Protein_kinase_ATP_BS | UniProtKB/Swiss-Prot | |
| Ser-Thr/Tyr_kinase_cat_dom | UniProtKB/Swiss-Prot | |
| Ser/Thr_kinase_AS | UniProtKB/Swiss-Prot | |
| Snake_toxin-like_sf | UniProtKB/Swiss-Prot | |
| TGFB_receptor | UniProtKB/Swiss-Prot | |
| KEGG Report | rno:25237 | UniProtKB/Swiss-Prot |
| MGC_CLONE | MGC:91691 | IMAGE-MGC_LOAD |
| NCBI Gene | 25237 | ENTREZGENE |
| PANTHER | PTHR23255 | UniProtKB/Swiss-Prot |
| SERINE/THREONINE-PROTEIN KINASE RECEPTOR R3 | UniProtKB/Swiss-Prot | |
| Pfam | Pkinase_Tyr | UniProtKB/Swiss-Prot |
| TGF_beta_GS | UniProtKB/Swiss-Prot | |
| PhenoGen | Acvrl1 | PhenoGen |
| PROSITE | PROTEIN_KINASE_ATP | UniProtKB/Swiss-Prot |
| PROTEIN_KINASE_DOM | UniProtKB/Swiss-Prot | |
| PROTEIN_KINASE_ST | UniProtKB/Swiss-Prot | |
| PS51256 | UniProtKB/Swiss-Prot | |
| RatGTEx | ENSRNOG00000028713 | RatGTEx |
| SMART | S_TKc | UniProtKB/Swiss-Prot |
| SM00467 | UniProtKB/Swiss-Prot | |
| Superfamily-SCOP | SSF56112 | UniProtKB/Swiss-Prot |
| SSF57302 | UniProtKB/Swiss-Prot | |
| TIGR | TC209468 | |
| UniProt | A0ABK0L406_RAT | UniProtKB/TrEMBL |
| A0ABK0LVX4_RAT | UniProtKB/TrEMBL | |
| A6KCM9 | ENTREZGENE, UniProtKB/TrEMBL | |
| A6KCN1 | ENTREZGENE, UniProtKB/TrEMBL | |
| ACVL1_RAT | UniProtKB/Swiss-Prot, ENTREZGENE | |
| Q63559 | ENTREZGENE | |
| UniProt Secondary | Q63559 | UniProtKB/Swiss-Prot |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-03-15 | Acvrl1 | activin A receptor like type 1 | Acvrl1 | activin A receptor type IL | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2015-11-11 | Acvrl1 | activin A receptor type IL | Acvrl1 | activin A receptor type II-like 1 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2003-04-09 | Acvrl1 | activin A receptor type II-like 1 | Activin receptor like kinase 1 | Name updated | 629478 | APPROVED | |
| 2002-06-10 | Acvrl1 | Activin receptor like kinase 1 | Symbol and Name status set to approved | 70586 | APPROVED |
| Note Type | Note | Reference |
|---|---|---|
| gene_expression | expressed in pulmonary and other blood vessel endothelium | 631799 |
| gene_expression | expressed in macrophages and lymphoid tissues of spleen | 631799 |
| gene_expression | expressed in fetal lung blood vessels | 631799 |
| gene_product | member of the family of type I receptor serine-threonine kinases | 631799 |