ZFIN Gene: acvrl1

ZFIN ID: ZDB-GENE-021003-1

ZFIN ID: ZDB-GENE-021003-1

Gene Name:

activin A receptor like type 1

Gene Symbol:

acvrl1 Nomenclature History

Previous Names:

vbg, alk1 (1), hm:zehn1109 (1), violet beauregarde, zehn1109

Gene Type:

protein_coding_gene

Location:

Chr: 23 Mapping Details/Browsers

Description:

Predicted to have transforming growth factor beta receptor activity, type I. Involved in several processes, including artery morphogenesis; blood vessel endothelial cell migration; and determination of ventral identity. Predicted to localize to BMP receptor complex. Is expressed in blood vessel and cranial vasculature. 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:

Alliance (1), Gene:266753 (1), Ensembl(GRCz11):ENSDARG00000018179 (2)

GENE EXPRESSION
All Expression Data:	7 figures from 5 publications
Directly Submitted Expression Data:	1 figure (1 image) from Thisse et al., 2005 [eu653]
Wild-type Stages, Structures:	Pharyngula:Prim-5 (24.0h-30.0h) to Pharyngula:Prim-25 (36.0h-42.0h)
	aortic arch 1 basal communicating artery caudal division of the internal carotid artery cranial division of the internal carotid artery cranial vasculature artery cranial vasculature dorsal aorta internal carotid artery lateral dorsal aorta optic artery optic vein posterior cardinal vein
High Throughput Expression:	GEO (1) , Expression Atlas (1)

MUTATIONS AND SEQUENCE TARGETING REAGENTS

Allele	Type	Localization	Consequence	Mutagen	Suppliers
ft09e	Point Mutation	Unknown	Premature Stop	ENU
s407	Point Mutation	Intron 8	Unknown	ENU
y6	Point Mutation	Unknown	Missense	ENU	Zebrafish International Resource Center (ZIRC) (order this)

Sequence Targeting Reagents

Targeting Reagent	Created Alleles	Publications
CRISPR1-acvrl1		2
CRISPR2-acvrl1		2
MO1-acvrl1	N/A	3
MO2-acvrl1	N/A	3
MO3-acvrl1	N/A	7

PHENOTYPE

Data:

23 figures from 9 publications

Observed in:

DISEASE ASSOCIATED WITH acvrl1 HUMAN ORTHOLOG

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
hereditary hemorrhagic telangiectasia	Alliance	Telangiectasia, hereditary hemorrhagic, type 2	600376

DISEASE ASSOCIATED WITH acvrl1 VIA EXPERIMENTAL MODELS

Human Disease	Fish	Conditions	Citations
arteriovenous malformation	WT + MO3-acvrl1	standard conditions	Walcott, 2014

GENE ONTOLOGY

Ontology	GO Term
Biological Process	determination of ventral identity (more)
Cellular Component	integral component of membrane (more)
Molecular Function	ATP binding (more)

GO Terms (all 32)

PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available

TRANSCRIPTS
Type	Name	Length (nt)	Analysis
mRNA	acvrl1-201 (1)	2794	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
	acvrl1-202 (1)	2321	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Browsers: UCSC, NCBI, Ensembl, ZFIN

INTERACTIONS AND PATHWAYS

SignaFish

ANTIBODIES

Name	Type	Isotype	Host Organism	Assay	Source	Publications
AB1-acvr1l	polyclonal		Rabbit			2

PLASMIDS No data available

CONSTRUCTS WITH SEQUENCES FROM acvrl1

Construct	Regulatory Regions	Coding Sequences	Species	Tg Lines	Publications
Tg(fli1:acvrl1-MYC)	fli1	acvrl1	Danio rerio	1	3

MARKER RELATIONSHIPS

acvrl1 Contained in:	[BAC] CH211-169D8 (1)
acvrl1 Encodes:	[EST] eu653 (1), zehn1109 (1) [cDNA] MGC:111915 (1)

SEQUENCE INFORMATION

Type	Accession #	Length (nt/aa)	Analysis
RNA	RefSeq:NM_153643 (1)	2674 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
Genomic	GenBank:CR387931 (1)	144701 nt	Select Tool MegaBLAST Ensembl
Polypeptide	UniProtKB:F1QH44 (1)	502 aa	Select Tool ZFIN BLAST SIB BLAST Ensembl Protein Blast

Sequence Information (all 26)

ORTHOLOGY for acvrl1 ( Chr: 23 )

CITATIONS (58)

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