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ACVRL1 activin A receptor like type 1 [ Homo sapiens (human) ]

Gene ID: 94, updated on 3-Apr-2024

Summary

Official Symbol
ACVRL1provided by HGNC
Official Full Name
activin A receptor like type 1provided by HGNC
Primary source
HGNC:HGNC:175
See related
Ensembl:ENSG00000139567 MIM:601284; AllianceGenome:HGNC:175
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HHT; ALK1; HHT2; ORW2; SKR3; ALK-1; TSR-I; ACVRLK1
Summary
This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]
Expression
Broad expression in placenta (RPKM 37.6), lung (RPKM 28.7) and 18 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See ACVRL1 in Genome Data Viewer
Location:
12q13.13
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (51906944..51923361)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (51870516..51886934)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52301288..52317145)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene filamin-B-like Neighboring gene ankyrin repeat domain 33 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52301449-52301957 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52307107-52307940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52308586-52309472 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52311731-52312303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52317635-52318466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52334596-52335170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52335171-52335745 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:52345261-52345880 Neighboring gene activin A receptor type 1B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6387 Neighboring gene RNA, U6 small nuclear 574, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4477 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52399414-52400100 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4478 Neighboring gene TAMALIN antisense RNA 1 Neighboring gene trafficking regulator and scaffold protein tamalin

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2016-11-10)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2016-11-10)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
enables BMP receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables BMP receptor activity IGI
Inferred from Genetic Interaction
more info
PubMed 
enables BMP receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables SMAD binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables SMAD binding IDA
Inferred from Direct Assay
more info
PubMed 
enables activin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables activin receptor activity, type I IDA
Inferred from Direct Assay
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables transforming growth factor beta binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transforming growth factor beta receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables transforming growth factor beta receptor activity, type I IBA
Inferred from Biological aspect of Ancestor
more info
 
enables transforming growth factor beta receptor activity, type I IDA
Inferred from Direct Assay
more info
PubMed 
enables transmembrane receptor protein serine/threonine kinase activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in BMP signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in BMP signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in BMP signaling pathway TAS
Traceable Author Statement
more info
PubMed 
involved_in activin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in angiogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in artery development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in blood circulation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in blood vessel endothelial cell proliferation involved in sprouting angiogenesis TAS
Traceable Author Statement
more info
PubMed 
involved_in blood vessel maturation TAS
Traceable Author Statement
more info
PubMed 
involved_in blood vessel remodeling ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to BMP stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to growth factor stimulus IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cellular response to transforming growth factor beta stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in dorsal aorta morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in dorsal/ventral pattern formation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in endocardial cushion morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT involved_in endocardial cushion to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endothelial tube morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in heart development IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
involved_in lymphangiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in lymphatic endothelial cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of blood vessel endothelial cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of endothelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of endothelial cell migration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of endothelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of focal adhesion assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of positive regulation of Notch signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of SMAD protein signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of angiogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of bicellular tight junction assembly IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of chondrocyte differentiation TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of endothelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of endothelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of positive regulation of epithelial cell differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of DNA replication TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of blood pressure IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of blood vessel endothelial cell migration TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of endothelial cell proliferation TAS
Traceable Author Statement
more info
PubMed 
involved_in response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
involved_in retina vasculature development in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
involved_in transforming growth factor beta receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in venous blood vessel development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in wound healing, spreading of epidermal cells 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 cell surface IDA
Inferred from Direct Assay
more info
PubMed 
located_in dendrite IEA
Inferred from Electronic Annotation
more info
 
located_in neuronal cell body 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 TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
serine/threonine-protein kinase receptor R3
Names
TGF-B superfamily receptor type I
activin A receptor type II-like 1
activin A receptor type IL
activin A receptor, type II-like kinase 1
NP_000011.2
NP_001070869.1
NP_001393416.1
NP_001393417.1
NP_001393418.1
NP_001393419.1
NP_001393420.1
NP_001393421.1
NP_001393422.1
NP_001393423.1
NP_001393424.1
XP_047285857.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

Genomic

  1. NG_009549.1 RefSeqGene

    Range
    5001..20944
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_543

mRNA and Protein(s)

  1. NM_000020.3NP_000011.2  serine/threonine-protein kinase receptor R3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_000011.2

    Status: REVIEWED

    Source sequence(s)
    AC025259, DN999570, Z22533
    Consensus CDS
    CCDS31804.1
    UniProtKB/Swiss-Prot
    A6NGA8, P37023
    UniProtKB/TrEMBL
    A0A0S2Z310
    Related
    ENSP00000373574.4, ENST00000388922.9
    Conserved Domains (2) summary
    cd14142
    Location:196493
    STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1
    pfam08515
    Location:173200
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
  2. NM_001077401.2NP_001070869.1  serine/threonine-protein kinase receptor R3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001070869.1

    Status: REVIEWED

    Source sequence(s)
    AC025259, BC042637
    Consensus CDS
    CCDS31804.1
    UniProtKB/Swiss-Prot
    A6NGA8, P37023
    UniProtKB/TrEMBL
    A0A0S2Z310
    Related
    ENSP00000447884.1, ENST00000550683.5
    Conserved Domains (2) summary
    cd14142
    Location:196493
    STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1
    pfam08515
    Location:173200
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
  3. NM_001406487.1NP_001393416.1  serine/threonine-protein kinase receptor R3 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC025259
    Consensus CDS
    CCDS31804.1
    UniProtKB/Swiss-Prot
    A6NGA8, P37023
    UniProtKB/TrEMBL
    A0A0S2Z310
    Related
    ENSP00000455848.2, ENST00000551576.6
  4. NM_001406488.1NP_001393417.1  serine/threonine-protein kinase receptor R3 isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC025259
    UniProtKB/TrEMBL
    H3BTZ2
    Related
    ENSP00000457394.2, ENST00000552678.2
  5. NM_001406489.1NP_001393418.1  serine/threonine-protein kinase receptor R3 isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC025259
    UniProtKB/TrEMBL
    H3BTZ2
  6. NM_001406490.1NP_001393419.1  serine/threonine-protein kinase receptor R3 isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AC025259
  7. NM_001406491.1NP_001393420.1  serine/threonine-protein kinase receptor R3 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC025259
    UniProtKB/TrEMBL
    A0A0S2Z2Y4
  8. NM_001406492.1NP_001393421.1  serine/threonine-protein kinase receptor R3 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC025259
    UniProtKB/TrEMBL
    A0A0S2Z2Y4
    Related
    ENSP00000446724.2, ENST00000547400.6
  9. NM_001406493.1NP_001393422.1  serine/threonine-protein kinase receptor R3 isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC025259
  10. NM_001406494.1NP_001393423.1  serine/threonine-protein kinase receptor R3 isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AC025259
  11. NM_001406495.1NP_001393424.1  serine/threonine-protein kinase receptor R3 isoform 7 precursor

    Status: REVIEWED

    Source sequence(s)
    AC025259
    Related
    ENSP00000392492.2, ENST00000419526.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    51906944..51923361
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047429901.1XP_047285857.1  serine/threonine-protein kinase receptor R3 isoform X1

    UniProtKB/Swiss-Prot
    A6NGA8, P37023
    UniProtKB/TrEMBL
    A0A0S2Z310

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    51870516..51886934
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)