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

Gene ID: 7046, updated on 8-Jul-2024

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See TGFBR1 in Genome Data Viewer
Location:
9q22.33
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (99103647..99154192)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (111275348..111325904)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (101867395..101916474)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene adipocyte associated pyruvate carboxylase interacting lncRNA Neighboring gene CRISPRi-validated cis-regulatory element chr9.1708 Neighboring gene Sharpr-MPRA regulatory region 4619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:101724037-101724537 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:101725038-101725622 Neighboring gene collagen type XV alpha 1 chain Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:101733335-101733912 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:101733913-101734490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:101760575-101761331 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:101761332-101762087 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:101834020-101834520 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:101834521-101835021 Neighboring gene CRISPRi-validated cis-regulatory element chr9.1735 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20124 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20125 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28699 Neighboring gene RNA, 5S ribosomal pseudogene 290 Neighboring gene Sharpr-MPRA regulatory region 12902 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:101932965-101933747 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_103896 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:101941126-101941626 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:101941627-101942127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28700 Neighboring gene uncharacterized LOC105376174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28701 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 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
Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women.
EBI GWAS Catalog
GWAS of dental caries patterns in the permanent dentition.
EBI GWAS Catalog
Seven new loci associated with age-related macular degeneration.
EBI GWAS 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
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
 
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 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 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 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 endothelial cell proliferation 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 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 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 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 protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
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 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 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 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

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_001394345.1
NP_001394346.1
NP_001394347.1
NP_001394348.1
NP_001394349.1
NP_001394351.1
NP_001394352.1
NP_001394353.1
NP_001394354.1
NP_001394355.1
NP_001394356.1
NP_001394357.1
NP_001394358.1
NP_001394359.1
NP_001394361.1
NP_001394362.1
NP_001394363.1
NP_001394364.1
NP_001394365.1
NP_001394366.1
NP_001394367.1
NP_004603.1
XP_011517250.1
XP_054219631.1

NCBI Reference Sequences (RefSeq)

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_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

    Source sequence(s)
    AJ619019, BC071181
    Consensus CDS
    CCDS47998.1
    UniProtKB/TrEMBL
    F8VXZ5
    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

    Source sequence(s)
    AJ619019, AK302059
    Consensus CDS
    CCDS78413.1
    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_001407416.1NP_001394345.1  TGF-beta receptor type-1 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AL162427
    UniProtKB/TrEMBL
    B4DXN7
  4. NM_001407417.1NP_001394346.1  TGF-beta receptor type-1 isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AL162427
    UniProtKB/TrEMBL
    B4DXN7
  5. NM_001407418.1NP_001394347.1  TGF-beta receptor type-1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL162427
    UniProtKB/TrEMBL
    A0A8V8TMH4, F8VXZ5, F8W0K6
  6. NM_001407419.1NP_001394348.1  TGF-beta receptor type-1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL162427
    UniProtKB/TrEMBL
    A0A8V8TMH4, F8VXZ5, F8W0K6
    Related
    ENSP00000514048.1, ENST00000698941.1
  7. NM_001407420.1NP_001394349.1  TGF-beta receptor type-1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL162427
    UniProtKB/TrEMBL
    A0A8V8TMH4, F8VXZ5, F8W0K6
  8. NM_001407422.1NP_001394351.1  TGF-beta receptor type-1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL162427
    UniProtKB/TrEMBL
    A0A8V8TMH4, F8VXZ5, F8W0K6
  9. NM_001407423.1NP_001394352.1  TGF-beta receptor type-1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL162427
    UniProtKB/TrEMBL
    B4DY26, F8VVC4, F8VXZ5
  10. NM_001407424.1NP_001394353.1  TGF-beta receptor type-1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL162427
    Consensus CDS
    CCDS94447.1
    UniProtKB/TrEMBL
    B4DY26, F8VVC4, F8VXZ5
    Related
    ENSP00000449934.2, ENST00000547314.6
  11. NM_001407425.1NP_001394354.1  TGF-beta receptor type-1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL162427
    UniProtKB/TrEMBL
    B4DY26, F8VVC4, F8VXZ5
  12. NM_001407426.1NP_001394355.1  TGF-beta receptor type-1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL162427
    UniProtKB/TrEMBL
    B4DY26, F8VVC4, F8VXZ5
  13. NM_001407427.1NP_001394356.1  TGF-beta receptor type-1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL162427
    UniProtKB/TrEMBL
    B4DY26, F8VVC4, F8VXZ5
  14. NM_001407428.1NP_001394357.1  TGF-beta receptor type-1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL162427
    UniProtKB/TrEMBL
    B4DY26, F8VVC4, F8VXZ5
  15. NM_001407429.1NP_001394358.1  TGF-beta receptor type-1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL162427
    UniProtKB/TrEMBL
    B4DY26, F8VVC4, F8VXZ5
  16. NM_001407430.1NP_001394359.1  TGF-beta receptor type-1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL162427
    UniProtKB/TrEMBL
    B4DY26, F8VVC4, F8VXZ5
  17. NM_001407432.1NP_001394361.1  TGF-beta receptor type-1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL162427
    UniProtKB/TrEMBL
    B4DY26, F8VVC4, F8VXZ5
  18. NM_001407433.1NP_001394362.1  TGF-beta receptor type-1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL162427
    UniProtKB/TrEMBL
    B4DY26, F8VVC4, F8VXZ5
  19. NM_001407434.1NP_001394363.1  TGF-beta receptor type-1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL162427
    UniProtKB/TrEMBL
    B4DY26, F8VVC4, F8VXZ5
    Related
    ENSP00000447707.3, ENST00000546584.2
  20. NM_001407435.1NP_001394364.1  TGF-beta receptor type-1 isoform 8 precursor

    Status: REVIEWED

    Source sequence(s)
    AL162427
    UniProtKB/TrEMBL
    B4DXN7
  21. NM_001407436.1NP_001394365.1  TGF-beta receptor type-1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AL162427
  22. NM_001407437.1NP_001394366.1  TGF-beta receptor type-1 isoform 11 precursor

    Status: REVIEWED

    Source sequence(s)
    AL162427
  23. NM_001407438.1NP_001394367.1  TGF-beta receptor type-1 isoform 10 precursor

    Status: REVIEWED

    Source sequence(s)
    AL162427
    UniProtKB/TrEMBL
    F8VXZ5
  24. 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

    Source sequence(s)
    AJ619019, AK302059, L11695
    Consensus CDS
    CCDS6738.1
    UniProtKB/Swiss-Prot
    P36897, Q6IR47, Q706C0, Q706C1
    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

RNA

  1. NR_176360.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL162427
    Related
    ENST00000714349.1
  2. NR_176361.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL162427
    Related
    ENST00000714351.1
  3. NR_176362.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL162427
  4. NR_176363.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL162427
    Related
    ENST00000714347.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    99103647..99154192
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for XP_011517250.1

    UniProtKB/TrEMBL
    A0A8V8TMH4, F8VXZ5, F8W0K6
    Conserved Domains (3) 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:641
    Activin_recp; Activin types I and II receptor domain
    pfam08515
    Location:111138
    TGF_beta_GS; Transforming growth factor beta type I GS-motif

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    111275348..111325904
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054363656.1XP_054219631.1  TGF-beta receptor type-1 isoform X1

    UniProtKB/TrEMBL
    A0A8V8TMH4, F8VXZ5, F8W0K6