acvr1l activin A receptor, type 1 like [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: acvr1lprovided by ZNC
Official Full Name: activin A receptor, type 1 likeprovided by ZNC
Primary source: ZFIN:ZDB-GENE-990415-9
See related: Ensembl:ENSDARG00000014986 AllianceGenome:ZFIN:ZDB-GENE-990415-9
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: laf; mfn; alk2; alk8; acvr1; alk8sum; fk50h05; lost-a-fin; wu:fk50h05; etID124543.2
Summary: Predicted to enable ATP binding activity; SMAD binding activity; and transforming growth factor beta receptor activity, type I. Acts upstream of or within several processes, including circulatory system development; determination of bilateral symmetry; and embryonic morphogenesis. Located in cell cortex and plasma membrane. Part of BMP receptor complex. Is expressed in brain; ceratobranchial 5 tooth; immature eye; liver; and tooth placode. Human ortholog(s) of this gene implicated in exfoliation syndrome; fibrodysplasia ossificans progressiva; primary angle-closure glaucoma; and primary open angle glaucoma. Orthologous to human ACVR1 (activin A receptor type 1). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: chromosome: 2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	2	NC_007113.7 (41524241..41544425)
105	previous assembly	GRCz10 (GCF_000002035.5)	2	NC_007113.6 (41674927..41694415)

Chromosome 2 - NC_007113.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Reduced GS Domain Serine/Threonine Requirements of Fibrodysplasia Ossificans Progressiva Mutant Type I BMP Receptor ACVR1 in the Zebrafish.
Title: Reduced GS Domain Serine/Threonine Requirements of Fibrodysplasia Ossificans Progressiva Mutant Type I BMP Receptor ACVR1 in the Zebrafish.
Functional comparison of human ACVR1 and zebrafish Acvr1l FOP-associated variants in embryonic zebrafish.
Title: Functional comparison of human ACVR1 and zebrafish Acvr1l FOP-associated variants in embryonic zebrafish.
Fibrodysplasia ossificans progressiva mutant ACVR1 signals by multiple modalities in the developing zebrafish.
Title: Fibrodysplasia ossificans progressiva mutant ACVR1 signals by multiple modalities in the developing zebrafish.
Injury of Adult Zebrafish Expressing Acvr1l(Q204D) Does Not Result in Heterotopic Ossification.
Title: Injury of Adult Zebrafish Expressing Acvr1l(Q204D) Does Not Result in Heterotopic Ossification.
mutant R206H ACVR1 activated BMP signaling in the absence of BMP ligand and mediated BMP-independent chondrogenesis that was enhanced by BMP
Title: The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization.
the choice of endothelial versus myeloid fate depends on a combinatorial effect of etsrp, scl, and alk8 ge
Title: Interplay among Etsrp/ER71, Scl, and Alk8 signaling controls endothelial and myeloid cell formation.
Alk8 is required for neural crest cell formation and development of pharyngeal arch cartilages
Title: Alk8 is required for neural crest cell formation and development of pharyngeal arch cartilages.
Alk8 is required for rostral pu.1 expression and myelopoiesis.
Title: Specification of the primitive myeloid precursor pool requires signaling through Alk8 in zebrafish.

Submit: New GeneRIF Correction

General gene information

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Markers

alk8 (e-PCR), detects polymorphism
- UniSTS:186927

alk8 (e-PCR), detects polymorphism
- UniSTS:205684

fk50h05.x1 (e-PCR)
- UniSTS:201098

Z21490 (e-PCR)
- UniSTS:204703

fe50e11.y1 (e-PCR)
- UniSTS:196584

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
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 binding	IPI Inferred from Physical Interaction more info	PubMed
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
acts_upstream_of_or_within BMP signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within anterior/posterior pattern specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac atrium development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
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 central nervous system formation	IMP Inferred from Mutant Phenotype more info
acts_upstream_of_or_within determination of heart left/right asymmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of left/right asymmetry in diencephalon	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of left/right asymmetry in lateral mesoderm	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of ventral identity	IDA Inferred from Direct Assay more info
acts_upstream_of_or_within determination of ventral identity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dorsal convergence	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dorsal/ventral pattern formation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within dorsal/ventral pattern formation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within dorsal/ventral pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic caudal fin morphogenesis	IMP Inferred from Mutant Phenotype more info
acts_upstream_of_or_within embryonic heart tube development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic heart tube morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within heart jogging	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart looping	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lateral mesoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within liver development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mesoderm morphogenesis	IMP Inferred from Mutant Phenotype more info
acts_upstream_of_or_within negative regulation of calcium-dependent cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of calcium-dependent cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within odontogenesis	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within odontogenesis	IMP Inferred from Mutant Phenotype more info
acts_upstream_of_or_within ossification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within phosphorylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within proepicardium development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein phosphorylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of_or_within regulation of BMP signaling pathway	IGI Inferred from Genetic Interaction more info
acts_upstream_of_or_within regulation of BMP signaling pathway	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

Component	Evidence Code	Pubs
part_of BMP receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BMP receptor complex	IDA Inferred from Direct Assay more info	PubMed
located_in cell cortex	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: activin receptor type-1

Names: ACVR1 activin A receptor, type I; activin A receptor, type I like; lost a fin; mini fin

NP_571420.1

EC 2.7.11.30

XP_021334426.1

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_131345.1 → NP_571420.1 activin receptor type-1 precursor

See identical proteins and their annotated locations for NP_571420.1

Status: PROVISIONAL

Source sequence(s)

AF038425

UniProtKB/TrEMBL

B3DG89, O73736

Related

ENSDARP00000003221.5, ENSDART00000017977.8

Conserved Domains (3) summary

cd14142
Location:199 → 496

STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1

pfam01064
Location:28 → 94

Activin_recp; Activin types I and II receptor domain

pfam08515
Location:176 → 203

TGF_beta_GS; Transforming growth factor beta type I GS-motif

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

Reference GRCz11 Primary Assembly

Genomic

NC_007113.7 Reference GRCz11 Primary Assembly

Range

41524241..41544425

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_021478751.2 → XP_021334426.1 activin receptor type-1 isoform X1

UniProtKB/TrEMBL

B3DG89, O73736

Conserved Domains (3) summary

cd14142
Location:199 → 496

STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1

pfam01064
Location:28 → 94

Activin_recp; Activin types I and II receptor domain

pfam08515
Location:176 → 203

TGF_beta_GS; Transforming growth factor beta type I GS-motif