U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    ACVR1 activin A receptor type 1 [ Homo sapiens (human) ]

    Gene ID: 90, updated on 14-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    ACVR1provided by HGNC
    Official Full Name
    activin A receptor type 1provided by HGNC
    Primary source
    HGNC:HGNC:171
    See related
    Ensembl:ENSG00000115170 MIM:102576; AllianceGenome:HGNC:171
    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
    FOP; ALK2; SKR1; TSRI; ACTRI; ACVR1A; ACVRLK2
    Summary
    Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 15.1), gall bladder (RPKM 9.4) and 23 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See ACVR1 in Genome Data Viewer
    Location:
    2q24.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (157736446..157876330, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (158189880..158329404, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (158592958..158732842, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene activin A receptor type 1C Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12029 Neighboring gene uncharacterized LOC124907898 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:158590437-158591636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:158605968-158606478 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:158606479-158606988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:158608073-158608572 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:158616153-158616973 Neighboring gene NANOG hESC enhancer GRCh37_chr2:158617891-158618482 Neighboring gene NANOG hESC enhancer GRCh37_chr2:158687547-158688048 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:158694657-158695856 Neighboring gene uncharacterized LOC124907899 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12031 Neighboring gene Sharpr-MPRA regulatory region 13798 Neighboring gene uncharacterized LOC105373714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12034 Neighboring gene RNA, U6 small nuclear 436, pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:158789161-158789872 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:158789873-158790582 Neighboring gene MTA3 pseudogene 1

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Kaplan FS, et al. Hum Mutat, 2009 Mar. PMID 19085907, Free PMC Article
    2. Uncovering Molecular Bases Underlying Bone Morphogenetic Protein Receptor Inhibitor Selectivity. Alsamarah A, et al. PLoS One, 2015. PMID 26133550, Free PMC Article
    3. Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients. Petrie KA, et al. PLoS One, 2009. PMID 19330033, Free PMC Article
    4. Effects of normal and high circulating concentrations of activin A on vascular endothelial cell functions and vasoactive factor production. Yong HE, et al. Pregnancy Hypertens, 2015 Oct. PMID 26597752
    5. A recurrent mutation c.617G>A in the ACVR1 gene causes fibrodysplasia ossificans progressiva in two Chinese patients. Sun Y, et al. Calcif Tissue Int, 2009 May. PMID 19300893

    See all (187) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Unlocking the Door for Precision Medicine in Rare Conditions: Structural and Functional Consequences of Missense ACVR1 Variants.
      Title: Unlocking the Door for Precision Medicine in Rare Conditions: Structural and Functional Consequences of Missense ACVR1 Variants.
    2. BRCC3 Regulation of ALK2 in Vascular Smooth Muscle Cells: Implication in Pulmonary Hypertension.
      Title: BRCC3 Regulation of ALK2 in Vascular Smooth Muscle Cells: Implication in Pulmonary Hypertension.
    3. BMP-ACVR1 Axis is Critical for Efficacy of PRC2 Inhibitors in B-Cell Lymphoma.
      Title: BMP-ACVR1 Axis is Critical for Efficacy of PRC2 Inhibitors in B-Cell Lymphoma.
    4. AAV-Mediated Targeting of the Activin A-ACVR1[R206H] Signaling in Fibrodysplasia Ossificans Progressiva.
      Title: AAV-Mediated Targeting of the Activin A-ACVR1(R206H) Signaling in Fibrodysplasia Ossificans Progressiva.
    5. A blocking monoclonal antibody reveals dimerization of intracellular domains of ALK2 associated with genetic disorders.
      Title: A blocking monoclonal antibody reveals dimerization of intracellular domains of ALK2 associated with genetic disorders.
    6. 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.
    7. Multi-omics therapeutic perspective on ACVR1 gene: from genetic alterations to potential targeting.
      Title: Multi-omics therapeutic perspective on ACVR1 gene: from genetic alterations to potential targeting.
    8. FKBP12 is a major regulator of ALK2 activity in multiple myeloma cells.
      Title: FKBP12 is a major regulator of ALK2 activity in multiple myeloma cells.
    9. Recapitulation of pro-inflammatory signature of monocytes with ACVR1A mutation using FOP patient-derived iPSCs.
      Title: Recapitulation of pro-inflammatory signature of monocytes with ACVR1A mutation using FOP patient-derived iPSCs.
    10. Recurrent ACVR1 mutations in posterior fossa ependymoma.
      Title: Recurrent ACVR1 mutations in posterior fossa ependymoma.
    Submit: New GeneRIF Correction See all GeneRIFs (118)

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Progressive myositis ossificans
    MedGen: C0016037 OMIM: 135100 GeneReviews: Fibrodysplasia Ossificans Progressiva
    		Compare labs

    Variation

    Go to the top of the page Help

    See Variation Viewer (GRCh37.p13)

    HIV-1 interactions

    Go to the top of the page Help

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of activin A receptor, type I (ACVR1) in human B cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    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 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 
    contributes_to activin receptor activity, type I IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables activin receptor activity, type II IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cadherin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables peptide hormone binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein tyrosine kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transforming growth factor beta binding 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 II IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transforming growth factor beta receptor activity, type III IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transmembrane receptor protein serine/threonine kinase activity 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in activin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in activin receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in acute inflammatory response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in atrial septum primum morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in atrial septum primum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in atrioventricular valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in branching involved in blood vessel morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cardiac muscle cell fate commitment IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    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 determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dorsal/ventral pattern formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in embryonic heart tube morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endocardial cushion cell fate commitment IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endocardial cushion formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in endocardial cushion fusion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in gastrulation with mouth forming second IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in germ cell development IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 mesoderm formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitral valve morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of G1/S transition of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of activin receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of extrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neural crest cell migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT involved_in outflow tract septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in pharyngeal system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of SMAD protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cardiac epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of cell migration IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of determination of dorsal identity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of peptidyl-tyrosine phosphorylation IMP
    Inferred from Mutant Phenotype
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of ossification IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in smooth muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 ventricular septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of BMP receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of activin receptor complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in apical part of cell 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 

    General protein information

    Go to the top of the page Help
    Preferred Names
    activin receptor type-1
    Names
    TGF-B superfamily receptor type I
    activin A receptor, type I
    activin A receptor, type II-like kinase 2
    activin receptor type I
    activin receptor-like kinase 2
    hydroxyalkyl-protein kinase
    serine/threonine-protein kinase receptor R1
    NP_001096.1
    NP_001104537.1
    NP_001334592.1
    NP_001334593.1
    NP_001334594.1
    NP_001334595.1
    NP_001334596.1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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_008004.1 RefSeqGene

      Range
      3782..143666
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001105.5 → NP_001096.1  activin receptor type-1 precursor

      See identical proteins and their annotated locations for NP_001096.1

      Status: REVIEWED

      Source sequence(s)
      AC013731, BC033867, L02911
      Consensus CDS
      CCDS2206.1
      UniProtKB/Swiss-Prot
      Q04771
      UniProtKB/TrEMBL
      A0A0B5HR54, D3DPA4, D3DPA5
      Related
      ENSP00000263640.3, ENST00000263640.7
      Conserved Domains (3) summary
      cd14142
      Location:202 → 499
      STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1
      pfam01064
      Location:37 → 103
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:179 → 206
      TGF_beta_GS; Transforming growth factor beta type I GS-motif

    2. NM_001111067.4 → NP_001104537.1  activin receptor type-1 precursor

      See identical proteins and their annotated locations for NP_001104537.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR compared to variant 1. All seven variants encode the same protein.
      Source sequence(s)
      AC013731, AK313630, BC033867, KU177885, L02911
      Consensus CDS
      CCDS2206.1
      UniProtKB/Swiss-Prot
      Q04771
      UniProtKB/TrEMBL
      A0A0B5HR54, D3DPA4, D3DPA5
      Related
      ENSP00000405004.1, ENST00000434821.7
      Conserved Domains (3) summary
      cd14142
      Location:202 → 499
      STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1
      pfam01064
      Location:37 → 103
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:179 → 206
      TGF_beta_GS; Transforming growth factor beta type I GS-motif

    3. NM_001347663.1 → NP_001334592.1  activin receptor type-1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' UTR compared to variant 1. All seven variants encode the same protein.
      Source sequence(s)
      AC013731, AC019186
      Consensus CDS
      CCDS2206.1
      UniProtKB/Swiss-Prot
      Q04771
      UniProtKB/TrEMBL
      A0A0B5HR54, D3DPA4, D3DPA5
      Related
      ENSP00000508136.1, ENST00000684348.1
      Conserved Domains (3) summary
      cd14142
      Location:202 → 499
      STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1
      pfam01064
      Location:37 → 103
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:179 → 206
      TGF_beta_GS; Transforming growth factor beta type I GS-motif

    4. NM_001347664.1 → NP_001334593.1  activin receptor type-1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has an alternate 5' UTR compared to variant 1. All seven variants encode the same protein.
      Source sequence(s)
      AC013731, AC019186
      Consensus CDS
      CCDS2206.1
      UniProtKB/Swiss-Prot
      Q04771
      UniProtKB/TrEMBL
      A0A0B5HR54, D3DPA4, D3DPA5
      Related
      ENSP00000440091.2, ENST00000539637.6
      Conserved Domains (3) summary
      cd14142
      Location:202 → 499
      STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1
      pfam01064
      Location:37 → 103
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:179 → 206
      TGF_beta_GS; Transforming growth factor beta type I GS-motif

    5. NM_001347665.1 → NP_001334594.1  activin receptor type-1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has an alternate 5' UTR compared to variant 1. All seven variants encode the same protein.
      Source sequence(s)
      AC013731, AC019186
      Consensus CDS
      CCDS2206.1
      UniProtKB/Swiss-Prot
      Q04771
      UniProtKB/TrEMBL
      A0A0B5HR54, D3DPA4, D3DPA5
      Related
      ENSP00000400767.2, ENST00000424669.6
      Conserved Domains (3) summary
      cd14142
      Location:202 → 499
      STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1
      pfam01064
      Location:37 → 103
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:179 → 206
      TGF_beta_GS; Transforming growth factor beta type I GS-motif

    6. NM_001347666.1 → NP_001334595.1  activin receptor type-1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has an alternate 5' UTR compared to variant 1. All seven variants encode the same protein.
      Source sequence(s)
      AC013731, AC019186
      Consensus CDS
      CCDS2206.1
      UniProtKB/Swiss-Prot
      Q04771
      UniProtKB/TrEMBL
      A0A0B5HR54, D3DPA4, D3DPA5
      Related
      ENSP00000500109.1, ENST00000673324.1
      Conserved Domains (3) summary
      cd14142
      Location:202 → 499
      STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1
      pfam01064
      Location:37 → 103
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:179 → 206
      TGF_beta_GS; Transforming growth factor beta type I GS-motif

    7. NM_001347667.2 → NP_001334596.1  activin receptor type-1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) has an alternate 5' UTR compared to variant 1. All seven variants encode the same protein.
      Source sequence(s)
      AC013731, AC019186
      Consensus CDS
      CCDS2206.1
      UniProtKB/Swiss-Prot
      Q04771
      UniProtKB/TrEMBL
      A0A0B5HR54, D3DPA4, D3DPA5
      Related
      ENSP00000387127.2, ENST00000410057.6
      Conserved Domains (3) summary
      cd14142
      Location:202 → 499
      STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1
      pfam01064
      Location:37 → 103
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:179 → 206
      TGF_beta_GS; Transforming growth factor beta type I GS-motif

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      157736446..157876330 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      158189880..158329404 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q04771.1 GenPept UniProtKB/Swiss-Prot:Q04771

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools