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

Gene ID: 94, updated on 5-Aug-2018

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; Vega:OTTHUMG00000169507
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

Genomic context

See ACVRL1 in Genome Data Viewer
Location:
12q13.13
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (51906913..51923361)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52300657..52317145)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene filamin-B-like Neighboring gene ankyrin repeat domain 33 Neighboring gene activin A receptor type 1B Neighboring gene RNA, U6 small nuclear 574, pseudogene Neighboring gene GRASP antisense RNA 1 Neighboring gene general receptor for phosphoinositides 1 associated scaffold protein

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hereditary hemorrhagic telangiectasia type 2 Compare labs

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

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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
XP_005269292.1
XP_011537310.1
XP_024305047.1

NCBI Reference Sequences (RefSeq)

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_000020.2NP_000011.2  serine/threonine-protein kinase receptor R3 precursor

    See identical proteins and their annotated locations for NP_000011.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AC025259, DN999570, Z22533
    Consensus CDS
    CCDS31804.1
    UniProtKB/Swiss-Prot
    P37023
    UniProtKB/TrEMBL
    A0A0S2Z310
    Related
    ENSP00000373574.4, OTTHUMP00000241377, ENST00000388922.8, OTTHUMT00000404520
    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_001077401.1NP_001070869.1  serine/threonine-protein kinase receptor R3 precursor

    See identical proteins and their annotated locations for NP_001070869.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform. This variant contains an upstream in-frame start codon, but this upstream start codon is poorly conserved and would result in a protein that is 14 aa longer at the N-terminus and lacks a predicted signal peptide. The downstream translational start codon, as used in variant 1, is selected for this RefSeq based on its better conservation in mammalian species and on the presence of a predicted signal peptide in the protein N-terminus. Leaky scanning by ribosomes may allow translation initiation at the downstream start codon.
    Source sequence(s)
    AC025259, BC042637
    Consensus CDS
    CCDS31804.1
    UniProtKB/Swiss-Prot
    P37023
    UniProtKB/TrEMBL
    A0A0S2Z310
    Related
    ENSP00000447884.1, OTTHUMP00000241379, ENST00000550683.5, OTTHUMT00000404523
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    51906913..51923361
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269235.2XP_005269292.1  serine/threonine-protein kinase receptor R3 isoform X1

    See identical proteins and their annotated locations for XP_005269292.1

    UniProtKB/Swiss-Prot
    P37023
    UniProtKB/TrEMBL
    A0A0S2Z310
    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. XM_011539008.1XP_011537310.1  serine/threonine-protein kinase receptor R3 isoform X2

    See identical proteins and their annotated locations for XP_011537310.1

    Conserved Domains (2) summary
    cd14142
    Location:119403
    STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1
    pfam07714
    Location:119399
    Pkinase_Tyr; Protein tyrosine kinase
  3. XM_024449279.1XP_024305047.1  serine/threonine-protein kinase receptor R3 isoform X3

    Conserved Domains (1) summary
    cl21453
    Location:1230
    PKc_like; Protein Kinases, catalytic domain
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