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TGFBR1 transforming growth factor beta receptor 1 [ Homo sapiens (human) ]

Gene ID: 7046, updated on 12-Jul-2020

Summary

Official Symbol
TGFBR1provided by HGNC
Official Full Name
transforming growth factor beta receptor 1provided by HGNC
Primary source
HGNC:HGNC:11772
See related
Ensembl:ENSG00000106799 MIM:190181
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
AAT5; ALK5; ESS1; LDS1; MSSE; SKR4; TBRI; ALK-5; LDS1A; LDS2A; TBR-i; TGFR-1; ACVRLK4; tbetaR-I
Summary
The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Expression
Ubiquitous expression in placenta (RPKM 13.6), gall bladder (RPKM 8.0) and 24 other tissues See more
Orthologs

Genomic context

See TGFBR1 in Genome Data Viewer
Location:
9q22.33
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (99104038..99154192)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (101867412..101916474)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene collagen type XV alpha 1 chain Neighboring gene CRISPRi-validated cis-regulatory element chr9.1735 Neighboring gene RNA, 5S ribosomal pseudogene 290 Neighboring gene uncharacterized LOC105376174 Neighboring gene RNA, 7SL, cytoplasmic 794, pseudogene

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

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in TGFBR1 that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-04-25)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2012-04-25)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Genetics of callous-unemotional behavior in children.
NHGRI GWA Catalog
Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women.
NHGRI GWA Catalog
GWAS of dental caries patterns in the permanent dentition.
NHGRI GWA Catalog
Seven new loci associated with age-related macular degeneration.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpu vpu Antibodies against TGF-beta or a TGF-beta receptor inhibitor SB431452 reverse HIV-1 Vpu-mediated profibrogenic activation of LX2 cells, suggesting that TGF-beta mediates these effects PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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 
I-SMAD binding IPI
Inferred from Physical Interaction
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 
SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
activin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
activin receptor activity, type I IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to growth factor binding IPI
Inferred from Physical Interaction
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 activity IDA
Inferred from Direct Assay
more info
PubMed 
protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
transforming growth factor beta binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to transforming growth factor beta binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to transforming growth factor beta binding IMP
Inferred from Mutant Phenotype
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 IC
Inferred by Curator
more info
PubMed 
transforming growth factor beta-activated receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
transforming growth factor beta-activated receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
contributes_to transforming growth factor beta-activated receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
type II transforming growth factor beta receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
type II transforming growth factor beta receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
activation of MAPKK activity IDA
Inferred from Direct Assay
more info
PubMed 
activin receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
activin receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
angiogenesis involved in coronary vascular morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
anterior/posterior pattern specification ISS
Inferred from Sequence or Structural Similarity
more info
 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
artery morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
blastocyst development IEA
Inferred from Electronic Annotation
more info
 
cardiac epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
cell cycle arrest TAS
Traceable Author Statement
more info
PubMed 
cell motility IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to growth factor stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to transforming growth factor beta stimulus IDA
Inferred from Direct Assay
more info
PubMed 
collagen fibril organization ISS
Inferred from Sequence or Structural Similarity
more info
 
coronary artery morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic cranial skeleton morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
endothelial cell activation ISS
Inferred from Sequence or Structural Similarity
more info
 
endothelial cell migration IEA
Inferred from Electronic Annotation
more info
 
epicardium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
epithelial to mesenchymal transition IDA
Inferred from Direct Assay
more info
PubMed 
extracellular structure organization TAS
Traceable Author Statement
more info
PubMed 
germ cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
heart development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
in utero embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
 
intracellular signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
kidney development ISS
Inferred from Sequence or Structural Similarity
more info
 
lens development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
male gonad development IEA
Inferred from Electronic Annotation
more info
 
mesenchymal cell differentiation TAS
Traceable Author Statement
more info
PubMed 
negative regulation of chondrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of endothelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of extrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transforming growth factor beta receptor signaling pathway TAS
Traceable Author Statement
more info
 
nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron fate commitment ISS
Inferred from Sequence or Structural Similarity
more info
 
parathyroid gland development ISS
Inferred from Sequence or Structural Similarity
more info
 
pathway-restricted SMAD protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-serine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-threonine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
pharyngeal system development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of SMAD protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cellular component movement IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of endothelial cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of filopodium assembly IEA
Inferred from Electronic Annotation
more info
 
positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of pathway-restricted SMAD protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein kinase B signaling IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of stress fiber assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of tight junction disassembly ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
NOT proepicardium development ISS
Inferred from Sequence or Structural Similarity
more info
 
protein deubiquitination TAS
Traceable Author Statement
more info
 
protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cardiac muscle cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of protein binding IEA
Inferred from Electronic Annotation
more info
 
regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to cholesterol IDA
Inferred from Direct Assay
more info
PubMed 
roof of mouth development ISS
Inferred from Sequence or Structural Similarity
more info
 
signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
skeletal system development ISS
Inferred from Sequence or Structural Similarity
more info
 
skeletal system morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
thymus development ISS
Inferred from Sequence or Structural Similarity
more info
 
transforming growth factor beta receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transforming growth factor beta receptor signaling pathway IC
Inferred by Curator
more info
PubMed 
transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
transforming growth factor beta receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
transforming growth factor beta receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
transforming growth factor beta receptor signaling pathway TAS
Traceable Author Statement
more info
 
ventricular compact myocardium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
ventricular septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
ventricular trabecula myocardium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
wound healing TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
activin receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
TGF-beta receptor type-1
Names
activin A receptor type II-like kinase, 53kDa
activin A receptor type II-like protein kinase of 53kD
activin receptor-like kinase 5
mutant transforming growth factor beta receptor I
serine/threonine-protein kinase receptor R4
transforming growth factor beta receptor I
transforming growth factor-beta receptor type I
NP_001124388.1
NP_001293139.1
NP_004603.1
XP_011517250.1
XP_011517251.1
XP_011517252.1
XP_016870552.1
XP_024303426.1

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_007461.1 RefSeqGene

    Range
    4984..54063
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001130916.3NP_001124388.1  TGF-beta receptor type-1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001124388.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 3. The encoded isoform (2) is shorter than isoform 3.
    Source sequence(s)
    AJ619019, BC071181
    Consensus CDS
    CCDS47998.1
    UniProtKB/Swiss-Prot
    P36897
    UniProtKB/TrEMBL
    B4DXN7
    Related
    ENSP00000364129.2, ENST00000374990.6
    Conserved Domains (3) summary
    cd14143
    Location:132419
    STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
    pfam01064
    Location:35110
    Activin_recp; Activin types I and II receptor domain
    pfam08515
    Location:114126
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
  2. NM_001306210.2NP_001293139.1  TGF-beta receptor type-1 isoform 3 precursor

    See identical proteins and their annotated locations for NP_001293139.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
    Source sequence(s)
    AJ619019, AK302059
    Consensus CDS
    CCDS78413.1
    UniProtKB/Swiss-Prot
    P36897
    UniProtKB/TrEMBL
    B4DXN7
    Related
    ENSP00000447297.1, ENST00000552516.5
    Conserved Domains (4) summary
    cd14143
    Location:213500
    STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
    pfam01064
    Location:35114
    Activin_recp; Activin types I and II receptor domain
    pfam07714
    Location:209496
    Pkinase_Tyr; Protein tyrosine kinase
    pfam08515
    Location:180207
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
  3. NM_004612.4NP_004603.1  TGF-beta receptor type-1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_004603.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses an alternate in-frame splice site in the 5' coding region, compared to variant 3. The encoded isoform (1) is shorter than isoform 3.
    Source sequence(s)
    AJ619019, AK302059, L11695
    Consensus CDS
    CCDS6738.1
    UniProtKB/Swiss-Prot
    P36897
    UniProtKB/TrEMBL
    B4DXN7, Q5T7S2
    Related
    ENSP00000364133.4, ENST00000374994.9
    Conserved Domains (4) summary
    cd14143
    Location:209496
    STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
    pfam01064
    Location:35114
    Activin_recp; Activin types I and II receptor domain
    pfam07714
    Location:205492
    Pkinase_Tyr; Protein tyrosine kinase
    pfam08515
    Location:176203
    TGF_beta_GS; Transforming growth factor beta type I GS-motif

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    99104038..99154192
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518949.2XP_011517251.1  TGF-beta receptor type-1 isoform X2

    See identical proteins and their annotated locations for XP_011517251.1

    UniProtKB/TrEMBL
    B4DY26
    Conserved Domains (3) summary
    cd14143
    Location:140427
    STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
    pfam01064
    Location:141
    Activin_recp; Activin types I and II receptor domain
    pfam08515
    Location:107134
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
  2. XM_017015063.1XP_016870552.1  TGF-beta receptor type-1 isoform X1

    Conserved Domains (4) summary
    cd14143
    Location:144431
    STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
    pfam01064
    Location:145
    Activin_recp; Activin types I and II receptor domain
    pfam07714
    Location:140427
    Pkinase_Tyr; Protein tyrosine kinase
    pfam08515
    Location:111138
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
  3. XM_011518950.2XP_011517252.1  TGF-beta receptor type-1 isoform X3

    Conserved Domains (4) summary
    cd14143
    Location:63350
    STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
    pfam01064
    Location:145
    Activin_recp; Activin types I and II receptor domain
    pfam07714
    Location:59346
    Pkinase_Tyr; Protein tyrosine kinase
    pfam08515
    Location:4557
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
  4. XM_024447658.1XP_024303426.1  TGF-beta receptor type-1 isoform X2

    Related
    ENSP00000450052.1, ENST00000550253.1
    Conserved Domains (3) summary
    cd14143
    Location:140427
    STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
    pfam01064
    Location:141
    Activin_recp; Activin types I and II receptor domain
    pfam08515
    Location:107134
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
  5. XM_011518948.2XP_011517250.1  TGF-beta receptor type-1 isoform X1

    See identical proteins and their annotated locations for XP_011517250.1

    Conserved Domains (4) summary
    cd14143
    Location:144431
    STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
    pfam01064
    Location:145
    Activin_recp; Activin types I and II receptor domain
    pfam07714
    Location:140427
    Pkinase_Tyr; Protein tyrosine kinase
    pfam08515
    Location:111138
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
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