acvrl1 activin A receptor like type 1 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: acvrl1provided by ZNC
Official Full Name: activin A receptor like type 1provided by ZNC
Primary source: ZFIN:ZDB-GENE-021003-1
See related: Ensembl:ENSDARG00000018179 AllianceGenome:ZFIN:ZDB-GENE-021003-1
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: vgb; alk1; zehn1109; hm:zehn1109
Summary: 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 integral component of 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). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: all
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Genomic context

Location:: chromosome: 23

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	23	NC_007134.7 (27835639..27857113, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	23	NC_007134.6 (27909112..27930559, complement)

Chromosome 23 - NC_007134.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BMP10-mediated ALK1 signaling is continuously required for vascular development and maintenance.
Title: BMP10-mediated ALK1 signaling is continuously required for vascular development and maintenance.
alk1 loss has no effect on arterial endothelial cell proliferation but alters arterial endothelial cell migration within lumenized vessels.
Title: Alk1 controls arterial endothelial cell migration in lumenized vessels.
Control of Notch targets in arterial endothelium is context-dependent, with gene-specific and region-specific requirements for Notch and Alk1
Title: Context-specific interactions between Notch and ALK1 cannot explain ALK1-associated arteriovenous malformations.
Blood flow is required not only for alk1 expression but also for Alk1 activity.
Title: Circulating Bmp10 acts through endothelial Alk1 to mediate flow-dependent arterial quiescence.
Study demonstrate that alk1 expression requires blood flow, and despite normal levels of shear stress, some flow-responsive genes are dysregulated in alk1 mutant arterial endothelial cells.
Title: Interaction between alk1 and blood flow in the development of arteriovenous malformations.
vbg encodes activin receptor-like kinase 1 (acvrl1), a TGFbeta type I receptor that is expressed predominantly in the endothelium of the vessels that become dilated in vbg mutants.
Title: Disruption of acvrl1 increases endothelial cell number in zebrafish cranial vessels.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables SMAD binding	IBA Inferred from Biological aspect of Ancestor more info
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info
enables transforming growth factor beta receptor activity, type I	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane receptor protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in angiogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within artery development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within artery development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within artery morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood vessel diameter maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood vessel endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood vessel morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within blood vessel morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell surface receptor protein serine/threonine kinase signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cellular response to growth factor stimulus	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within determination of ventral identity	IDA Inferred from Direct Assay more info	PubMed
involved_in dorsal/ventral pattern formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within response to fluid shear stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within vasculature development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of BMP receptor complex	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: serine/threonine-protein kinase receptor R3

Names: activin A receptor type II-like 1; activin receptor-like kinase 1; vbg; violet beauregarde

NP_705929.1

EC 2.7.11.30

XP_009295079.1

EC 2.7.11.30

XP_021325397.1

EC 2.7.11.30

XP_021325398.1

EC 2.7.11.30

XP_021325399.1

EC 2.7.11.30

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_153643.1 → NP_705929.1 serine/threonine-protein kinase receptor R3 precursor

See identical proteins and their annotated locations for NP_705929.1

Status: PROVISIONAL

Source sequence(s)

AF435024

UniProtKB/TrEMBL

Q78BG9, Q8JFB0

Related

ENSDARP00000043461.5, ENSDART00000043462.7

Conserved Domains (3) summary

pfam07714
Location:194 → 481

Pkinase_Tyr; Protein tyrosine kinase

pfam08515
Location:165 → 192

TGF_beta_GS; Transforming growth factor beta type I GS-motif

cl21453
Location:188 → 485

PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: Danio rerio Annotation Release 106 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCz11 Primary Assembly

Genomic

NC_007134.7 Reference GRCz11 Primary Assembly

Range

27835639..27857113 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_021469723.1 → XP_021325398.1 serine/threonine-protein kinase receptor R3 isoform X1

UniProtKB/TrEMBL

A0A8M9P4Z5

Conserved Domains (2) summary

pfam08515
Location:173 → 200

TGF_beta_GS; Transforming growth factor beta type I GS-motif

cl21453
Location:196 → 493

PKc_like; Protein Kinases, catalytic domain
XM_021469722.1 → XP_021325397.1 serine/threonine-protein kinase receptor R3 isoform X1

UniProtKB/TrEMBL

A0A8M9P4Z5

Conserved Domains (2) summary

pfam08515
Location:173 → 200

TGF_beta_GS; Transforming growth factor beta type I GS-motif

cl21453
Location:196 → 493

PKc_like; Protein Kinases, catalytic domain
XM_021469724.1 → XP_021325399.1 serine/threonine-protein kinase receptor R3 isoform X3

UniProtKB/TrEMBL

A0A8M9PKJ3

Related

ENSDARP00000123002.1, ENSDART00000137861.2

Conserved Domains (2) summary

pfam08515
Location:168 → 195

TGF_beta_GS; Transforming growth factor beta type I GS-motif

cl21453
Location:191 → 488

PKc_like; Protein Kinases, catalytic domain
XM_009296804.3 → XP_009295079.1 serine/threonine-protein kinase receptor R3 isoform X2

See identical proteins and their annotated locations for XP_009295079.1

UniProtKB/TrEMBL

A0A8M3B616

Conserved Domains (3) summary

pfam07714
Location:199 → 486

Pkinase_Tyr; Protein tyrosine kinase

pfam08515
Location:170 → 197

TGF_beta_GS; Transforming growth factor beta type I GS-motif

cl21453
Location:193 → 490

PKc_like; Protein Kinases, catalytic domain