Human Gene TGFBRAP1 (ENST00000393359.7_7) from GENCODE V47lift37
  Description: transforming growth factor beta receptor associated protein 1, transcript variant 4 (from RefSeq NR_137328.2)
Gencode Transcript: ENST00000393359.7_7
Gencode Gene: ENSG00000135966.14_10
Transcript (Including UTRs)
   Position: hg19 chr2:105,880,871-105,946,192 Size: 65,322 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr2:105,883,840-105,924,758 Size: 40,919 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:105,880,871-105,946,192)mRNA (may differ from genome)Protein (860 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TGFA1_HUMAN
DESCRIPTION: RecName: Full=Transforming growth factor-beta receptor-associated protein 1; Short=TGF-beta receptor-associated protein 1; Short=TRAP-1; Short=TRAP1;
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 vicinity of the receptor complex and facilitate its interaction with receptor-regulated Smads, such as SMAD2.
SUBUNIT: Interacts with TGFBR2 and ACVR2B; in the absence of ligand stimulation. Interacts with TGFBR1, ACVRL1, BMPR1A and ACVR1B; in the absence of ligand stimulation and to a less extent. Interacts with SMAD4; the interaction seems to be mutually exclusive with the interaction of SMAD4 and phosphorylated SMAD2. May interact with ALOX5.
SUBCELLULAR LOCATION: Cytoplasm. Note=Colocalizes with TGF-beta receptors in the absence of signaling.
SIMILARITY: Belongs to the TRAP1 family.
SIMILARITY: Contains 1 CNH domain.
CAUTION: In (PubMed:9545258) and in (PubMed:10051563) experimental information is given for a truncated version of TGFBRAP1 (sequence of 474-860), which was later shown to act as a dominant negative.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TGFBRAP1
Diseases sorted by gene-association score: arthrogryposis, renal dysfunction, and cholestasis 1 (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.39 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 184.24 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -69.50128-0.543 Picture PostScript Text
3' UTR -930.402969-0.313 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001180 - Citron
IPR000547 - Clathrin_H-chain/VPS_repeat
IPR019452 - VPS39/TGF_beta_rcpt-assoc_1
IPR019453 - VPS39/TGF_beta_rcpt-assoc_2

Pfam Domains:
PF00637 - Region in Clathrin and VPS
PF00780 - CNH domain
PF10366 - Vacuolar sorting protein 39 domain 1
PF10367 - Vacuolar sorting protein 39 domain 2

SCOP Domains:
51445 - (Trans)glycosidases

ModBase Predicted Comparative 3D Structure on Q8WUH2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005160 transforming growth factor beta receptor binding
GO:0005515 protein binding
GO:0046332 SMAD binding

Biological Process:
GO:0006355 regulation of transcription, DNA-templated
GO:0006886 intracellular protein transport
GO:0007165 signal transduction
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0008333 endosome to lysosome transport
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0034058 endosomal vesicle fusion

Cellular Component:
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005769 early endosome
GO:0016020 membrane
GO:0033263 CORVET complex
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  BC020548 - Homo sapiens transforming growth factor, beta receptor associated protein 1, mRNA (cDNA clone MGC:21319 IMAGE:4420120), complete cds.
AK021697 - Homo sapiens cDNA FLJ11635 fis, clone HEMBA1004286, highly similar to Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), mRNA.
AF022795 - Homo sapiens TGF beta receptor associated protein-1 mRNA, complete cds.
AK291382 - Homo sapiens cDNA FLJ77549 complete cds, highly similar to Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), mRNA.
KJ898014 - Synthetic construct Homo sapiens clone ccsbBroadEn_07408 TGFBRAP1 gene, encodes complete protein.
DQ891559 - Synthetic construct clone IMAGE:100004189; FLH178057.01X; RZPDo839G11126D transforming growth factor, beta receptor associated protein 1 (TGFBRAP1) gene, encodes complete protein.
EU176617 - Synthetic construct Homo sapiens clone IMAGE:100011411; FLH178056.01L; RZPDo839E06254D transforming growth factor, beta receptor associated protein 1 (TGFBRAP1) gene, encodes complete protein.
AB590278 - Synthetic construct DNA, clone: pFN21AE1572, Homo sapiens TGFBRAP1 gene for transforming growth factor, beta receptor associated protein 1, without stop codon, in Flexi system.
BC010093 - Homo sapiens cDNA clone IMAGE:3357443, **** WARNING: chimeric clone ****.
AK025947 - Homo sapiens cDNA: FLJ22294 fis, clone HRC04426.
BC019841 - Homo sapiens, Similar to hypothetical protein FLJ21394, clone IMAGE:4513206, mRNA.
JD096721 - Sequence 77745 from Patent EP1572962.
JD465209 - Sequence 446233 from Patent EP1572962.
JD538257 - Sequence 519281 from Patent EP1572962.
JD205420 - Sequence 186444 from Patent EP1572962.
JD467533 - Sequence 448557 from Patent EP1572962.
JD110804 - Sequence 91828 from Patent EP1572962.
JD457912 - Sequence 438936 from Patent EP1572962.
JD417400 - Sequence 398424 from Patent EP1572962.
JD172135 - Sequence 153159 from Patent EP1572962.
JD091065 - Sequence 72089 from Patent EP1572962.
JD074152 - Sequence 55176 from Patent EP1572962.
JD513400 - Sequence 494424 from Patent EP1572962.
JD286956 - Sequence 267980 from Patent EP1572962.
JD489143 - Sequence 470167 from Patent EP1572962.
JD503255 - Sequence 484279 from Patent EP1572962.
BC011136 - Homo sapiens hypothetical LOC644617, mRNA (cDNA clone IMAGE:3448872), partial cds.
JD392406 - Sequence 373430 from Patent EP1572962.
JD052422 - Sequence 33446 from Patent EP1572962.
JD433465 - Sequence 414489 from Patent EP1572962.
JD057716 - Sequence 38740 from Patent EP1572962.
JD465391 - Sequence 446415 from Patent EP1572962.
JD171053 - Sequence 152077 from Patent EP1572962.
JD553963 - Sequence 534987 from Patent EP1572962.
JD557755 - Sequence 538779 from Patent EP1572962.
JD136435 - Sequence 117459 from Patent EP1572962.
JD386509 - Sequence 367533 from Patent EP1572962.
JD271893 - Sequence 252917 from Patent EP1572962.
JD442049 - Sequence 423073 from Patent EP1572962.
JD507924 - Sequence 488948 from Patent EP1572962.
JD422511 - Sequence 403535 from Patent EP1572962.
JD361260 - Sequence 342284 from Patent EP1572962.
JD202554 - Sequence 183578 from Patent EP1572962.
JD126282 - Sequence 107306 from Patent EP1572962.
JD339316 - Sequence 320340 from Patent EP1572962.
JD377321 - Sequence 358345 from Patent EP1572962.
JD298511 - Sequence 279535 from Patent EP1572962.
JD262818 - Sequence 243842 from Patent EP1572962.
JD117583 - Sequence 98607 from Patent EP1572962.
JD103037 - Sequence 84061 from Patent EP1572962.
JD404228 - Sequence 385252 from Patent EP1572962.
JD250980 - Sequence 232004 from Patent EP1572962.
JD501094 - Sequence 482118 from Patent EP1572962.
CU676552 - Synthetic construct Homo sapiens gateway clone IMAGE:100017501 5' read TGFBRAP1 mRNA.
LF205190 - JP 2014500723-A/12693: Polycomb-Associated Non-Coding RNAs.
MA440767 - JP 2018138019-A/12693: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K5R7, D3DVJ8, ENST00000393359.1, ENST00000393359.2, ENST00000393359.3, ENST00000393359.4, ENST00000393359.5, ENST00000393359.6, NR_137328, O60466, Q8WUH2, TGFA1_HUMAN, uc318vul.1, uc318vul.2
UCSC ID: ENST00000393359.7_7
RefSeq Accession: NM_004257.6
Protein: Q8WUH2 (aka TGFA1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.