TGFBR1

GENERAL INFORMATION

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Gene name

TGFBR1

Gene description

Transforming growth factor, beta receptor 1

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Predicted secreted proteins

Predicted localization

Intracellular,Membrane,Secreted

Number of transcripts

9
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression mainly in glandular cells and neuropil.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 2 antibodies.
CAB002441 , CAB031481
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Cerebellum

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

TGFBR1 (HGNC Symbol)

Synonyms

ACVRLK4, ALK-5, ESS1, MSSE

Description

Transforming growth factor, beta receptor 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

9

Cytoband

q22.33

Chromosome location (bp)

99104038 - 99154192

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000106799 (version 78.38)

Entrez gene

7046

UniProt

P36897 (UniProt - Evidence at protein level)

neXtProt

NX_P36897

Antibodypedia

TGFBR1 antibodies


PROTEIN BROWSER

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ENST00000374990
 
ENST00000374994
 
ENST00000546584
 
ENST00000547314
 
ENST00000548365
 
ENST00000549021
 
ENST00000550253
 
ENST00000552516
 
ENST00000552573
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

TGFBR1-001 ENSP00000364133
ENST00000374994
P36897
Show all »
Show » Show » 503 56 Yes 1
TGFBR1-003 ENSP00000364129
ENST00000374990
P36897
Show all »
Show » Show » 426 47.7 Yes 0
TGFBR1-004 ENSP00000447297
ENST00000552516
P36897
Show all »
Show » Show » 507 56.3 Yes 1
TGFBR1-007 ENSP00000450052
ENST00000550253
B4DY26
Show all »
Show » Show » 434 48.9 No 1
TGFBR1-008 ENSP00000449934
ENST00000547314
F8VVC4
Show all »
Show » Show » 118 13 No 1
TGFBR1-009 ENSP00000447182
ENST00000552573
F8W0K6
Show all »
Show » Show » 126 13.6 No 1
TGFBR1-010 ENSP00000449028
ENST00000549021
F8VXZ5
Show all »
Show » Show » 114 13.1 No 0
TGFBR1-011 ENSP00000448518
ENST00000548365
F8VRH6
Show all »
Show » Show » 114 12.4 No 1
TGFBR1-012 ENSP00000447707
ENST00000546584
H0YHS4
Show all »
Show » Show » 188 20.6 No 1