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

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; AllianceGenome:HGNC:11772
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: mouse all
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Genomic context

Location:: 9q22.33

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (99103647..99154192)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (111275348..111325904)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (101865929..101916474)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TSPYL1 as a Critical Regulator of TGFbeta Signaling through Repression of TGFBR1 and TSPYL2.
Title: TSPYL1 as a Critical Regulator of TGFβ Signaling through Repression of TGFBR1 and TSPYL2.
CD9 promotes TbetaR2-TbetaR1 association driving the transition of human dermal fibroblasts to myofibroblast under hypoxia.
Title: CD9 promotes TβR2-TβR1 association driving the transition of human dermal fibroblasts to myofibroblast under hypoxia.
Stabilization of TGF-beta Receptor 1 by a Receptor-Associated Adaptor Dictates Feedback Activation of the TGF-beta Signaling Pathway to Maintain Liver Cancer Stemness and Drug Resistance.
Title: Stabilization of TGF-β Receptor 1 by a Receptor-Associated Adaptor Dictates Feedback Activation of the TGF-β Signaling Pathway to Maintain Liver Cancer Stemness and Drug Resistance.
ISG15 accelerates acute kidney injury and the subsequent AKI-to-CKD transition by promoting TGFbetaR1 ISGylation.
Title: ISG15 accelerates acute kidney injury and the subsequent AKI-to-CKD transition by promoting TGFβR1 ISGylation.
Polymorphism of Transforming Growth Factor TGFB and Its Receptors TGFBRI, TGFBRII, TGFBRIIII Genes in Western Siberia Patients with Open-Angle Glaucoma.
Title: Polymorphism of Transforming Growth Factor TGFB and Its Receptors TGFBRI, TGFBRII, TGFBRIIII Genes in Western Siberia Patients with Open-Angle Glaucoma.
Gut microbiota regulates the ALK5/NOX1 axis by altering glutamine metabolism to inhibit ferroptosis of intrahepatic cholangiocarcinoma cells.
Title: Gut microbiota regulates the ALK5/NOX1 axis by altering glutamine metabolism to inhibit ferroptosis of intrahepatic cholangiocarcinoma cells.
Blockade of endothelial adenosine receptor 2 A suppresses atherosclerosis in vivo through inhibiting CREB-ALK5-mediated endothelial to mesenchymal transition.
Title: Blockade of endothelial adenosine receptor 2 A suppresses atherosclerosis in vivo through inhibiting CREB-ALK5-mediated endothelial to mesenchymal transition.
TGFbetaR1 inhibition drives hepatocellular carcinoma proliferation through induction of toll-like-receptor signalling.
Title: TGFβR1 inhibition drives hepatocellular carcinoma proliferation through induction of toll-like-receptor signalling.
Exosomes from human adipose-derived mesenchymal stem cells attenuate localized scleroderma fibrosis by the let-7a-5p/TGF-betaR1/Smad axis.
Title: Exosomes from human adipose-derived mesenchymal stem cells attenuate localized scleroderma fibrosis by the let-7a-5p/TGF-βR1/Smad axis.
Functional Genetic Variants in TGFbeta1 and TGFbetaR1 in miRNA-Binding Sites Predict Outcomes in Patients with HPV-positive Oropharyngeal Squamous Cell Carcinoma.
Title: Functional Genetic Variants in TGFβ1 and TGFβR1 in miRNA-Binding Sites Predict Outcomes in Patients with HPV-positive Oropharyngeal Squamous Cell Carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (370)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

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

Associated conditions

Description	Tests
Familial thoracic aortic aneurysm and aortic dissection MedGen: C4707243 GeneReviews: Heritable Thoracic Aortic Disease Overview	Compare labs
Loeys-Dietz syndrome 1 MedGen: C4551955 OMIM: 609192 GeneReviews: Loeys-Dietz Syndrome	Compare labs
Multiple self-healing squamous epithelioma MedGen: C0546476 OMIM: 132800 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2024-02-13) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2024-02-13) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH35823 (e-PCR)
- UniSTS:25098

RH121979 (e-PCR)
- UniSTS:137747

SHGC-57485 (e-PCR)
- UniSTS:31771

RH69005 (e-PCR)
- UniSTS:72996

SHGC-12551 (e-PCR)
- UniSTS:37420

TGFBR1_1095 (e-PCR)
- UniSTS:277808

GDB:437164 (e-PCR)
- UniSTS:157239

RH45434 (e-PCR)
- UniSTS:33095

RH45880 (e-PCR)
- UniSTS:40540

D9S2089 (e-PCR)
- UniSTS:70764

SHGC-78743 (e-PCR)
- UniSTS:95601

SHGC-12551 (e-PCR)
- UniSTS:4731

Tgfbr1 (e-PCR), detects polymorphism
- UniSTS:496000

SHGC-34660 (e-PCR)
- UniSTS:79773

SHGC-147856 (e-PCR)
- UniSTS:176054

RH45113 (e-PCR)
- UniSTS:38612

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables BMP receptor activity	IEA Inferred from Electronic Annotation more info
enables I-SMAD binding	IPI Inferred from Physical Interaction 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 SMAD binding	IPI Inferred from Physical Interaction more info	PubMed
enables activin binding	IBA Inferred from Biological aspect of Ancestor more info
enables activin receptor activity, type I	IBA Inferred from Biological aspect of Ancestor more info
enables activin receptor activity, type II	IEA Inferred from Electronic Annotation more info
contributes_to growth factor binding	IPI Inferred from Physical Interaction 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 activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to transforming growth factor beta binding	IDA Inferred from Direct Assay more info	PubMed
enables 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
enables transforming growth factor beta binding	IPI Inferred from Physical Interaction more info	PubMed
enables transforming growth factor beta binding	ISS Inferred from Sequence or Structural Similarity more info
enables transforming growth factor beta receptor activity	IC Inferred by Curator more info	PubMed
enables transforming growth factor beta receptor activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to transforming growth factor beta receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables transforming growth factor beta receptor activity	IMP Inferred from Mutant Phenotype 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 transforming growth factor beta receptor activity, type I	ISS Inferred from Sequence or Structural Similarity 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 type II transforming growth factor beta receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables type II transforming growth factor beta receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in activin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in activin receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in angiogenesis involved in coronary vascular morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in anterior/posterior pattern specification	ISS Inferred from Sequence or Structural Similarity more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in artery morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in blastocyst development	IEA Inferred from Electronic Annotation more info
involved_in cardiac epithelial to mesenchymal transition	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell motility	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 collagen fibril organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in coronary artery morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic cranial skeleton morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in endothelial cell activation	ISS Inferred from Sequence or Structural Similarity more info
involved_in endothelial cell migration	IEA Inferred from Electronic Annotation more info
involved_in epicardium morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in epithelial to mesenchymal transition	IDA Inferred from Direct Assay more info	PubMed
involved_in extracellular structure organization	TAS Traceable Author Statement more info	PubMed
involved_in filopodium assembly	IEA Inferred from Electronic Annotation more info
involved_in germ cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
involved_in heart development	ISS Inferred from Sequence or Structural Similarity more info
involved_in in utero embryonic development	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in kidney development	ISS Inferred from Sequence or Structural Similarity more info
involved_in lens development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in male gonad development	IEA Inferred from Electronic Annotation more info
involved_in mesenchymal cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in mesenchymal cell differentiation	TAS Traceable Author Statement more info	PubMed
involved_in myofibroblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of negative regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of chondrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of endothelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of extrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron fate commitment	ISS Inferred from Sequence or Structural Similarity more info
involved_in parathyroid gland development	ISS Inferred from Sequence or Structural Similarity more info
involved_in peptidyl-serine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in pharyngeal system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
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	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 apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of endothelial cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of epithelial to mesenchymal transition	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of positive regulation of extracellular matrix assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of filopodium assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of mesenchymal stem cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of stress fiber assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of tight junction disassembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of vasculature development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in post-embryonic development	IEA Inferred from Electronic Annotation more info
NOT involved_in proepicardium development	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cardiac muscle cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell cycle	TAS Traceable Author Statement more info	PubMed
involved_in regulation of epithelial to mesenchymal transition	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in response to cholesterol	IDA Inferred from Direct Assay more info	PubMed
involved_in roof of mouth development	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in skeletal system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in skeletal system morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in thymus development	ISS Inferred from Sequence or Structural Similarity 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	IC Inferred by Curator more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in vascular endothelial cell proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in ventricular compact myocardium morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in ventricular septum morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in ventricular trabecula myocardium morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in wound healing	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of activin receptor complex	IBA Inferred from Biological aspect of Ancestor more info
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
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	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed
part_of transforming growth factor beta ligand-receptor complex	IPI Inferred from Physical Interaction more info	PubMed
part_of transforming growth factor beta ligand-receptor complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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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

EC 2.7.11.30

NP_001293139.1

EC 2.7.11.30

NP_001394345.1

EC 2.7.11.30

NP_001394346.1

EC 2.7.11.30

NP_001394347.1

EC 2.7.11.30

NP_001394348.1

EC 2.7.11.30

NP_001394349.1

EC 2.7.11.30

NP_001394351.1

EC 2.7.11.30

NP_001394352.1

EC 2.7.11.30

NP_001394353.1

EC 2.7.11.30

NP_001394354.1

EC 2.7.11.30

NP_001394355.1

EC 2.7.11.30

NP_001394356.1

EC 2.7.11.30

NP_001394357.1

EC 2.7.11.30

NP_001394358.1

EC 2.7.11.30

NP_001394359.1

EC 2.7.11.30

NP_001394361.1

EC 2.7.11.30

NP_001394362.1

EC 2.7.11.30

NP_001394363.1

EC 2.7.11.30

NP_001394364.1

EC 2.7.11.30

NP_001394365.1

EC 2.7.11.30

NP_001394366.1

EC 2.7.11.30

NP_001394367.1

EC 2.7.11.30

NP_004603.1

EC 2.7.11.30

XP_011517250.1

EC 2.7.11.30

XP_054219631.1

EC 2.7.11.30

NCBI Reference Sequences (RefSeq)

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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

NG_007461.1 RefSeqGene

Range

4984..54063

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

See identical proteins and their annotated locations for NP_001124388.1

Status: REVIEWED

Source sequence(s)

AJ619019, BC071181

Consensus CDS

CCDS47998.1

UniProtKB/TrEMBL

A0AAQ5BI21

Related

ENSP00000364129.2, ENST00000374990.6

Conserved Domains (3) summary

cd14143
Location:132 → 419

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:35 → 110

Activin_recp; Activin types I and II receptor domain

pfam08515
Location:114 → 126

TGF_beta_GS; Transforming growth factor beta type I GS-motif
NM_001306210.2 → NP_001293139.1 TGF-beta receptor type-1 isoform 3 precursor

See identical proteins and their annotated locations for NP_001293139.1

Status: REVIEWED

Source sequence(s)

AJ619019, AK302059

Consensus CDS

CCDS78413.1

UniProtKB/TrEMBL

A0AAQ5BI21

Related

ENSP00000447297.1, ENST00000552516.5

Conserved Domains (4) summary

cd14143
Location:213 → 500

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:35 → 114

Activin_recp; Activin types I and II receptor domain

pfam07714
Location:209 → 496

Pkinase_Tyr; Protein tyrosine kinase

pfam08515
Location:180 → 207

TGF_beta_GS; Transforming growth factor beta type I GS-motif
NM_001407416.1 → NP_001394345.1 TGF-beta receptor type-1 isoform 4 precursor

Status: REVIEWED

Source sequence(s)

AL162427

UniProtKB/TrEMBL

A0AAQ5BHT0
NM_001407417.1 → NP_001394346.1 TGF-beta receptor type-1 isoform 5 precursor

Status: REVIEWED

Source sequence(s)

AL162427

UniProtKB/TrEMBL

A0AAQ5BHT0
NM_001407418.1 → NP_001394347.1 TGF-beta receptor type-1 isoform 6

Status: REVIEWED

Source sequence(s)

AL162427

UniProtKB/TrEMBL

A0A8V8TMH4, A0AAQ5BI21, F8W0K6
NM_001407419.1 → NP_001394348.1 TGF-beta receptor type-1 isoform 6

Status: REVIEWED

Source sequence(s)

AL162427

UniProtKB/TrEMBL

A0A8V8TMH4, A0AAQ5BI21, F8W0K6

Related

ENSP00000514048.1, ENST00000698941.1
NM_001407420.1 → NP_001394349.1 TGF-beta receptor type-1 isoform 6

Status: REVIEWED

Source sequence(s)

AL162427

UniProtKB/TrEMBL

A0A8V8TMH4, A0AAQ5BI21, F8W0K6
NM_001407422.1 → NP_001394351.1 TGF-beta receptor type-1 isoform 6

Status: REVIEWED

Source sequence(s)

AL162427

UniProtKB/TrEMBL

A0A8V8TMH4, A0AAQ5BI21, F8W0K6
NM_001407423.1 → NP_001394352.1 TGF-beta receptor type-1 isoform 7

Status: REVIEWED

Source sequence(s)

AL162427

UniProtKB/TrEMBL

A0AAQ5BI21, B4DY26, F8VVC4, H0YHS4
NM_001407424.1 → NP_001394353.1 TGF-beta receptor type-1 isoform 7

Status: REVIEWED

Source sequence(s)

AL162427

Consensus CDS

CCDS94447.1

UniProtKB/TrEMBL

A0AAQ5BI21, B4DY26, F8VVC4, H0YHS4

Related

ENSP00000449934.2, ENST00000547314.6
NM_001407425.1 → NP_001394354.1 TGF-beta receptor type-1 isoform 7

Status: REVIEWED

Source sequence(s)

AL162427

UniProtKB/TrEMBL

A0AAQ5BI21, B4DY26, F8VVC4, H0YHS4
NM_001407426.1 → NP_001394355.1 TGF-beta receptor type-1 isoform 7

Status: REVIEWED

Source sequence(s)

AL162427

UniProtKB/TrEMBL

A0AAQ5BI21, B4DY26, F8VVC4, H0YHS4
NM_001407427.1 → NP_001394356.1 TGF-beta receptor type-1 isoform 7

Status: REVIEWED

Source sequence(s)

AL162427

UniProtKB/TrEMBL

A0AAQ5BI21, B4DY26, F8VVC4, H0YHS4
NM_001407428.1 → NP_001394357.1 TGF-beta receptor type-1 isoform 7

Status: REVIEWED

Source sequence(s)

AL162427

UniProtKB/TrEMBL

A0AAQ5BI21, B4DY26, F8VVC4, H0YHS4
NM_001407429.1 → NP_001394358.1 TGF-beta receptor type-1 isoform 7

Status: REVIEWED

Source sequence(s)

AL162427

UniProtKB/TrEMBL

A0AAQ5BI21, B4DY26, F8VVC4, H0YHS4
NM_001407430.1 → NP_001394359.1 TGF-beta receptor type-1 isoform 7

Status: REVIEWED

Source sequence(s)

AL162427

UniProtKB/TrEMBL

A0AAQ5BI21, B4DY26, F8VVC4, H0YHS4
NM_001407432.1 → NP_001394361.1 TGF-beta receptor type-1 isoform 7

Status: REVIEWED

Source sequence(s)

AL162427

UniProtKB/TrEMBL

A0AAQ5BI21, B4DY26, F8VVC4, H0YHS4
NM_001407433.1 → NP_001394362.1 TGF-beta receptor type-1 isoform 7

Status: REVIEWED

Source sequence(s)

AL162427

UniProtKB/TrEMBL

A0AAQ5BI21, B4DY26, F8VVC4, H0YHS4
NM_001407434.1 → NP_001394363.1 TGF-beta receptor type-1 isoform 7

Status: REVIEWED

Source sequence(s)

AL162427

UniProtKB/TrEMBL

A0AAQ5BI21, B4DY26, F8VVC4, H0YHS4

Related

ENSP00000447707.3, ENST00000546584.2
NM_001407435.1 → NP_001394364.1 TGF-beta receptor type-1 isoform 8 precursor

Status: REVIEWED

Source sequence(s)

AL162427

UniProtKB/TrEMBL

A0AAQ5BI21
NM_001407436.1 → NP_001394365.1 TGF-beta receptor type-1 isoform 9

Status: REVIEWED

Source sequence(s)

AL162427
NM_001407437.1 → NP_001394366.1 TGF-beta receptor type-1 isoform 11 precursor

Status: REVIEWED

Source sequence(s)

AL162427
NM_001407438.1 → NP_001394367.1 TGF-beta receptor type-1 isoform 10 precursor

Status: REVIEWED

Source sequence(s)

AL162427

UniProtKB/TrEMBL

F8VXZ5
NM_004612.4 → NP_004603.1 TGF-beta receptor type-1 isoform 1 precursor

See identical proteins and their annotated locations for NP_004603.1

Status: REVIEWED

Source sequence(s)

AJ619019, AK302059, L11695

Consensus CDS

CCDS6738.1

UniProtKB/Swiss-Prot

P36897, Q6IR47, Q706C0, Q706C1

UniProtKB/TrEMBL

A0AAQ5BI21, Q5T7S2

Related

ENSP00000364133.4, ENST00000374994.9

Conserved Domains (4) summary

cd14143
Location:209 → 496

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:35 → 114

Activin_recp; Activin types I and II receptor domain

pfam07714
Location:205 → 492

Pkinase_Tyr; Protein tyrosine kinase

pfam08515
Location:176 → 203

TGF_beta_GS; Transforming growth factor beta type I GS-motif

RNA

NR_176360.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL162427

Related

ENST00000714349.1
NR_176361.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL162427

Related

ENST00000714351.1
NR_176362.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL162427
NR_176363.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL162427

Related

ENST00000714347.1

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

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

99103647..99154192

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011518948.3 → XP_011517250.1 TGF-beta receptor type-1 isoform X1

See identical proteins and their annotated locations for XP_011517250.1

UniProtKB/TrEMBL

A0A8V8TMH4, A0AAQ5BI21, F8W0K6

Conserved Domains (3) summary

cd14143
Location:144 → 431

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:6 → 41

Activin_recp; Activin types I and II receptor domain

pfam08515
Location:111 → 138

TGF_beta_GS; Transforming growth factor beta type I GS-motif