Tgfbr1 transforming growth factor, beta receptor I [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tgfbr1provided by MGI
Official Full Name: transforming growth factor, beta receptor Iprovided by MGI
Primary source: MGI:MGI:98728
See related: Ensembl:ENSMUSG00000007613 AllianceGenome:MGI:98728
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ALK5; ESK2; Alk-5; TGFR-1; TbetaRI; TbetaR-I
Summary: This gene encodes a member of the transforming growth factor beta (TGF-beta) receptor family of proteins. These proteins comprise one component of the TGF-beta signaling pathway, which transduces extracellular signals into gene expression changes to regulate a wide range of cellular responses, including proliferation, migration, differentiation and apoptosis. Homozygous knockout mice for this gene exhibit impaired angiogenesis and embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Expression: Broad expression in CNS E11.5 (RPKM 19.6), placenta adult (RPKM 12.8) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 B1; 4 26.02 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (47353258..47414926)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (47353222..47414926)

Chromosome 4 - NC_000070.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Tgfbr1 controls developmental plasticity between the hindlimb and external genitalia by remodeling their regulatory landscape.
Title: Tgfbr1 controls developmental plasticity between the hindlimb and external genitalia by remodeling their regulatory landscape.
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.
Integrin beta8 prevents pericyte-myofibroblast transition and renal fibrosis through inhibiting the TGF-beta1/TGFBR1/Smad3 pathway in diabetic kidney disease.
Title: Integrin β8 prevents pericyte-myofibroblast transition and renal fibrosis through inhibiting the TGF-β1/TGFBR1/Smad3 pathway in diabetic kidney disease.
Expression of constitutively active TbetaRI leads to attenuation of ovalbumin-induced allergic airway inflammation associated with augmented M2 polarization of alveolar macrophage.
Title: Expression of constitutively active TβRI leads to attenuation of ovalbumin-induced allergic airway inflammation associated with augmented M2 polarization of alveolar macrophage.
Hydronidone ameliorates liver fibrosis by inhibiting activation of hepatic stellate cells via Smad7-mediated degradation of TGFbetaRI.
Title: Hydronidone ameliorates liver fibrosis by inhibiting activation of hepatic stellate cells via Smad7-mediated degradation of TGFβRI.
Periderm Fate during Palatogenesis: TGF-beta and Periderm Dedifferentiation.
Title: Periderm Fate during Palatogenesis: TGF-β and Periderm Dedifferentiation.
The long noncoding RNA THBS1-AS1 promotes cardiac fibroblast activation in cardiac fibrosis by regulating TGFBR1.
Title: The long noncoding RNA THBS1-AS1 promotes cardiac fibroblast activation in cardiac fibrosis by regulating TGFBR1.
Mitochondrial dysfunction induces ALK5-SMAD2-mediated hypovascularization and arteriovenous malformations in mouse retinas.
Title: Mitochondrial dysfunction induces ALK5-SMAD2-mediated hypovascularization and arteriovenous malformations in mouse retinas.
miR-210-3p protects against osteoarthritis through inhibiting subchondral angiogenesis by targeting the expression of TGFBR1 and ID4.
Title: miR-210-3p protects against osteoarthritis through inhibiting subchondral angiogenesis by targeting the expression of TGFBR1 and ID4.
GDF11 inhibits adipogenesis and improves mature adipocytes metabolic function via WNT/beta-catenin and ALK5/SMAD2/3 pathways.
Title: GDF11 inhibits adipogenesis and improves mature adipocytes metabolic function via WNT/β-catenin and ALK5/SMAD2/3 pathways.

Submit: New GeneRIF Correction See all GeneRIFs (148)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (9) 1 citation
Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU017191 (e-PCR)
- UniSTS:178996

D25540 (e-PCR)
- UniSTS:178997

Tgfbr1 (e-PCR), detects polymorphism
- UniSTS:496700

Tgfbr1 (e-PCR), detects polymorphism
- UniSTS:480354

38.MMHAP32FLE5.seq (e-PCR)
- UniSTS:124270

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

Tgfbr1 (e-PCR), detects polymorphism
- UniSTS:507276

PMC145465P1 (e-PCR)
- UniSTS:271003

NoName (e-PCR)
- UniSTS:548552

NoName (e-PCR)
- UniSTS:548567

Tgfbr1 (e-PCR), detects polymorphism
- UniSTS:144614

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables I-SMAD binding	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
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
contributes_to growth factor binding	ISO Inferred from Sequence Orthology more info
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	ISO Inferred from Sequence Orthology more info
enables protein serine/threonine kinase activity	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables transferase activity	IEA Inferred from Electronic Annotation more info
enables transforming growth factor beta binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to transforming growth factor beta binding	ISO Inferred from Sequence Orthology more info
enables transforming growth factor beta binding	ISO Inferred from Sequence Orthology more info
enables transforming growth factor beta receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables transforming growth factor beta receptor activity	IGI Inferred from Genetic Interaction more info	PubMed
contributes_to transforming growth factor beta receptor activity	ISO Inferred from Sequence Orthology more info
enables transforming growth factor beta receptor activity	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
enables transmembrane receptor protein serine/threonine kinase activity	ISO Inferred from Sequence Orthology more info
enables type II transforming growth factor beta receptor binding	ISO Inferred from Sequence Orthology more info
enables ubiquitin protein ligase binding	ISO Inferred from Sequence Orthology more info

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

Component	Evidence Code	Pubs
part_of activin receptor complex	IBA Inferred from Biological aspect of Ancestor more info
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in bicellular tight junction	ISO Inferred from Sequence Orthology more info
located_in caveola	ISO Inferred from Sequence Orthology more info	PubMed
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in membrane raft	ISO Inferred from Sequence Orthology more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
part_of receptor complex	ISO Inferred from Sequence Orthology more info
part_of transforming growth factor beta ligand-receptor complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: TGF-beta receptor type-1

Names: TGF-beta receptor type I; transforming growth factor-beta receptor type I

NP_001299797.1

EC 2.7.11.30

NP_001299798.1

EC 2.7.11.30

NP_001411815.1

EC 2.7.11.30

NP_001411816.1

EC 2.7.11.30

NP_001411817.1

EC 2.7.11.30

NP_001411818.1

EC 2.7.11.30

NP_033396.1

EC 2.7.11.30

XP_036019848.1

EC 2.7.11.30

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001312868.2 → NP_001299797.1 TGF-beta receptor type-1 isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AL772150, AL772232

Consensus CDS

CCDS84728.1

UniProtKB/TrEMBL

E9Q418

Related

ENSMUSP00000048501.8, ENSMUST00000044234.14

Conserved Domains (4) summary

cd14143
Location:205 → 492

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:30 → 110

Activin_recp; Activin types I and II receptor domain

pfam07714
Location:201 → 488

Pkinase_Tyr; Protein tyrosine kinase

pfam08515
Location:172 → 199

TGF_beta_GS; Transforming growth factor beta type I GS-motif
NM_001312869.2 → NP_001299798.1 TGF-beta receptor type-1 isoform 3

Status: VALIDATED

Source sequence(s)

AL772150

Consensus CDS

CCDS84729.1

UniProtKB/TrEMBL

Q3U485, Q9D5H8

Related

ENSMUSP00000103353.3, ENSMUST00000107725.3

Conserved Domains (3) summary

cd14143
Location:126 → 413

STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors

pfam07714
Location:122 → 409

Pkinase_Tyr; Protein tyrosine kinase

pfam08515
Location:93 → 120

TGF_beta_GS; Transforming growth factor beta type I GS-motif
NM_001424886.1 → NP_001411815.1 TGF-beta receptor type-1 isoform 4

Status: VALIDATED

Source sequence(s)

AL772150, AL772232
NM_001424887.1 → NP_001411816.1 TGF-beta receptor type-1 isoform 5 precursor

Status: VALIDATED

Source sequence(s)

AL772150, AL772232
NM_001424888.1 → NP_001411817.1 TGF-beta receptor type-1 isoform 6

Status: VALIDATED

Source sequence(s)

AL772150
NM_001424889.1 → NP_001411818.1 TGF-beta receptor type-1 isoform 7 precursor

Status: VALIDATED

Source sequence(s)

AL772150, AL772232
NM_009370.4 → NP_033396.1 TGF-beta receptor type-1 isoform 1 precursor

See identical proteins and their annotated locations for NP_033396.1

Status: VALIDATED

Source sequence(s)

AL772150, AL772232

Consensus CDS

CCDS18160.1

UniProtKB/Swiss-Prot

A2AJN0, Q64729

UniProtKB/TrEMBL

E9Q418, Q4FJL1

Related

ENSMUSP00000007757.9, ENSMUST00000007757.15

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:30 → 110

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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

47353258..47414926

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036163955.1 → XP_036019848.1 TGF-beta receptor type-1 isoform X1

Conserved Domains (3) summary

cd14143
Location:250 → 537

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:82 → 147

Activin_recp; Activin types I and II receptor domain

pfam08515
Location:217 → 244

TGF_beta_GS; Transforming growth factor beta type I GS-motif