Gene Gene information from NCBI Gene database.
Entrez ID 9392
Gene name Transforming growth factor beta receptor associated protein 1
Gene symbol TGFBRAP1
Synonyms (NCBI Gene)
TRAP-1TRAP1VPS3
Chromosome 2
Chromosome location 2q12.1-q12.2
Summary This gene encodes a protein that binds to transforming growth factor-beta (TGF-beta) receptors and plays a role in TGF-beta signaling. The encoded protein acts as a chaprone in signaling downstream of TGF-beta. It is involved in signal-dependent associati
miRNA miRNA information provided by mirtarbase database.
130
miRTarBase ID miRNA Experiments Reference
MIRT023387 hsa-miR-122-5p Microarray 17612493
MIRT049371 hsa-miR-92a-3p CLASH 23622248
MIRT039586 hsa-miR-628-3p CLASH 23622248
MIRT053662 hsa-miR-181a-5p Microarray 22942087
MIRT053662 hsa-miR-181a-5p Luciferase reporter assayqRT-PCRWestern blot 22714950
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0005160 Function Transforming growth factor beta receptor binding IDA 11278302
GO:0005515 Function Protein binding IPI 11278302, 25266290, 26496610, 28514442, 33961781, 35271311
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005768 Component Endosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606237 16836 ENSG00000135966
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WUH2
Protein name Transforming growth factor-beta receptor-associated protein 1 (TGF-beta receptor-associated protein 1) (TRAP-1) (TRAP1)
Protein function Plays a role in the TGF-beta/activin signaling pathway. It associates with inactive heteromeric TGF-beta and activin receptor complexes, mainly through the type II receptor, and is released upon activation of signaling. May recruit SMAD4 to the
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00780 CNH 34 292 CNH domain Family
PF10366 Vps39_1 448 550 Vacuolar sorting protein 39 domain 1 Family
PF00637 Clathrin 569 729 Region in Clathrin and VPS Family
PF10367 Vps39_2 738 846 Vacuolar sorting protein 39 domain 2 Domain
Sequence
MMSIKAFTLVSAVERELLMGDKERVNIECVECCGRDLYVGTNDCFVYHFLLEERPVPAGP
ATFTATKQLQRHLGFKKPVNELRAASALNRLLVLCDNSISLVNMLNLEPVPSGARIKGAA
TFALNENPVSGDPFCVEVCIISVKRRTIQMFLVYEDRVQIVKEVSTAEQPLAVAVDGHFL
CLALTTQYIIHNYSTGVSQDLFPYCSEERPPIVKRIGRQEFLLAGPGGLGMFATVAGISQ
RAPVHWSENVIGAAVSFPYVIALDDEFITVHSMLDQQQKQTLPFKEGHILQD
FEGRVIVA
TSKGVYILVPLPLEKQIQDLLASRRVEEALVLAKGARRNIPKEKFQVMYRRILQQAGFIQ
FAQLQFLEAKELFRSGQLDVRELISLYPFLLPTSSSFTRSHPPLHEYADLNQLTQGDQEK
MAKCKRFLMSYLNEVRSTEVANGYKEDIDTALLKLYAEADHDSLLDLLVTENFCLLTDSA
AWLEKHKKYFALGLLYHYNNQDAAAVQLWVNIVNGDVQDSTRSDLYEYIVDFLTYCLDEE
LVWAYADWVL
QKSEEVGVQVFTKRPLDEQQKNSFNPDDIINCLKKYPKALVKYLEHLVID
KRLQKEEYHTHLAVLYLEEVLLQRASASGKGAEATETQAKLRRLLQKSDLYRVHFLLERL
QGAGLPMESAILHGKLGEHEKALHILVHELQDFAAAEDYCLWCSEGRDPPHRQQLFHTLL
AIYLHAGPT
AHELAVAAVDLLNRHATEFDAAQVLQMLPDTWSVQLLCPFLMGAMRDSIHA
RRTMQVALGLARSENLIYTYDKMKLKGSSIQLSDKKLCQICQNPFCEPVFVRYPNGGLVH
THCAAS
RHTNPSSSSPGTRT
Sequence length 860
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Efferocytosis  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Long QT syndrome Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Aggressive Periodontitis Aggressive Periodontitis BEFREE 25466412
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 23139614, 29552185
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease BEFREE 25466412
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes mellitus Pubtator 30461200 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 30461200 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 30461200
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophageal neoplasm Pubtator 34725559 Inhibit
★☆☆☆☆
Found in Text Mining only
Essential Hypertension Hypertension BEFREE 25856002
★☆☆☆☆
Found in Text Mining only
Essential Hypertension Hypertension Pubtator 25856002 Associate
★☆☆☆☆
Found in Text Mining only
Hypertension Hypertension Pubtator 25856002 Associate
★☆☆☆☆
Found in Text Mining only