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Q8WUH2

- TGFA1_HUMAN

UniProt

Q8WUH2 - TGFA1_HUMAN

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Protein
Transforming growth factor-beta receptor-associated protein 1
Gene
TGFBRAP1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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 SMAD2.2 Publications

GO - Molecular functioni

  1. SMAD binding Source: UniProtKB
  2. protein binding Source: UniProtKB
  3. small GTPase regulator activity Source: InterPro
  4. transforming growth factor beta receptor binding Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. intracellular protein transport Source: InterPro
  2. regulation of transcription, DNA-templated Source: UniProtKB
  3. signal transduction Source: UniProtKB
  4. transforming growth factor beta receptor signaling pathway Source: UniProtKB
  5. vesicle-mediated transport Source: InterPro
Complete GO annotation...

Enzyme and pathway databases

SignaLinkiQ8WUH2.

Names & Taxonomyi

Protein namesi
Recommended name:
Transforming growth factor-beta receptor-associated protein 1
Short name:
TGF-beta receptor-associated protein 1
Short name:
TRAP-1
Short name:
TRAP1
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:16836. TGFBRAP1.

Subcellular locationi

Cytoplasm
Note: Colocalizes with TGF-beta receptors in the absence of signaling.1 Publication

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-SubCell
  2. membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134963946.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 860860Transforming growth factor-beta receptor-associated protein 1
PRO_0000345405Add
BLAST

Proteomic databases

MaxQBiQ8WUH2.
PaxDbiQ8WUH2.
PRIDEiQ8WUH2.

PTM databases

PhosphoSiteiQ8WUH2.

Expressioni

Gene expression databases

BgeeiQ8WUH2.
CleanExiHS_TGFBRAP1.
GenevestigatoriQ8WUH2.

Organism-specific databases

HPAiHPA038397.

Interactioni

Subunit structurei

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 ALOX5.3 Publications

Protein-protein interaction databases

BioGridi114792. 6 interactions.
IntActiQ8WUH2. 1 interaction.
STRINGi9606.ENSP00000258449.

Structurei

3D structure databases

ProteinModelPortaliQ8WUH2.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini24 – 297274CNH
Add
BLAST
Repeati564 – 728165CHCR
Add
BLAST

Sequence similaritiesi

Belongs to the TRAP1 family.
Contains 1 CNH domain.

Phylogenomic databases

eggNOGiNOG254275.
HOGENOMiHOG000007291.
HOVERGENiHBG108563.
InParanoidiQ8WUH2.
OMAiCFVYHFL.
OrthoDBiEOG7RBZ7Q.
PhylomeDBiQ8WUH2.
TreeFamiTF328650.

Family and domain databases

InterProiIPR001180. Citron.
IPR000547. Clathrin_H-chain/VPS_repeat.
IPR019452. VPS39/TGF_beta_rcpt-assoc_1.
IPR019453. VPS39/TGF_beta_rcpt-assoc_2.
[Graphical view]
PfamiPF00637. Clathrin. 1 hit.
PF00780. CNH. 1 hit.
PF10366. Vps39_1. 1 hit.
PF10367. Vps39_2. 1 hit.
[Graphical view]
PROSITEiPS50236. CHCR. 1 hit.
PS50219. CNH. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8WUH2-1 [UniParc]FASTAAdd to Basket

« Hide

MMSIKAFTLV SAVERELLMG DKERVNIECV ECCGRDLYVG TNDCFVYHFL    50
LEERPVPAGP ATFTATKQLQ RHLGFKKPVN ELRAASALNR LLVLCDNSIS 100
LVNMLNLEPV PSGARIKGAA TFALNENPVS GDPFCVEVCI ISVKRRTIQM 150
FLVYEDRVQI VKEVSTAEQP LAVAVDGHFL CLALTTQYII HNYSTGVSQD 200
LFPYCSEERP PIVKRIGRQE FLLAGPGGLG MFATVAGISQ RAPVHWSENV 250
IGAAVSFPYV IALDDEFITV HSMLDQQQKQ TLPFKEGHIL QDFEGRVIVA 300
TSKGVYILVP LPLEKQIQDL LASRRVEEAL VLAKGARRNI PKEKFQVMYR 350
RILQQAGFIQ FAQLQFLEAK ELFRSGQLDV RELISLYPFL LPTSSSFTRS 400
HPPLHEYADL NQLTQGDQEK MAKCKRFLMS YLNEVRSTEV ANGYKEDIDT 450
ALLKLYAEAD HDSLLDLLVT ENFCLLTDSA AWLEKHKKYF ALGLLYHYNN 500
QDAAAVQLWV NIVNGDVQDS TRSDLYEYIV DFLTYCLDEE LVWAYADWVL 550
QKSEEVGVQV FTKRPLDEQQ KNSFNPDDII NCLKKYPKAL VKYLEHLVID 600
KRLQKEEYHT HLAVLYLEEV LLQRASASGK GAEATETQAK LRRLLQKSDL 650
YRVHFLLERL QGAGLPMESA ILHGKLGEHE KALHILVHEL QDFAAAEDYC 700
LWCSEGRDPP HRQQLFHTLL AIYLHAGPTA HELAVAAVDL LNRHATEFDA 750
AQVLQMLPDT WSVQLLCPFL MGAMRDSIHA RRTMQVALGL ARSENLIYTY 800
DKMKLKGSSI QLSDKKLCQI CQNPFCEPVF VRYPNGGLVH THCAASRHTN 850
PSSSSPGTRT 860
Length:860
Mass (Da):97,158
Last modified:March 1, 2002 - v1
Checksum:iABDD23BEDC5F4A55
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti725 – 7251H → R.2 Publications
Corresponds to variant rs2241797 [ dbSNP | Ensembl ].
VAR_045822

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti805 – 8051L → S in BAF84071. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF022795 mRNA. Translation: AAC16903.1.
AK291382 mRNA. Translation: BAF84071.1.
AC012360 Genomic DNA. Translation: AAY15010.1.
CH471127 Genomic DNA. Translation: EAX01764.1.
CH471127 Genomic DNA. Translation: EAX01765.1.
BC020548 mRNA. Translation: AAH20548.1.
CCDSiCCDS2067.1.
PIRiT08622.
RefSeqiNP_001136093.1. NM_001142621.2.
NP_004248.2. NM_004257.5.
UniGeneiHs.446350.
Hs.592796.

Genome annotation databases

EnsembliENST00000258449; ENSP00000258449; ENSG00000135966.
ENST00000393359; ENSP00000377027; ENSG00000135966.
GeneIDi9392.
KEGGihsa:9392.
UCSCiuc002tcq.3. human.

Polymorphism databases

DMDMi74730711.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF022795 mRNA. Translation: AAC16903.1 .
AK291382 mRNA. Translation: BAF84071.1 .
AC012360 Genomic DNA. Translation: AAY15010.1 .
CH471127 Genomic DNA. Translation: EAX01764.1 .
CH471127 Genomic DNA. Translation: EAX01765.1 .
BC020548 mRNA. Translation: AAH20548.1 .
CCDSi CCDS2067.1.
PIRi T08622.
RefSeqi NP_001136093.1. NM_001142621.2.
NP_004248.2. NM_004257.5.
UniGenei Hs.446350.
Hs.592796.

3D structure databases

ProteinModelPortali Q8WUH2.
ModBasei Search...

Protein-protein interaction databases

BioGridi 114792. 6 interactions.
IntActi Q8WUH2. 1 interaction.
STRINGi 9606.ENSP00000258449.

PTM databases

PhosphoSitei Q8WUH2.

Polymorphism databases

DMDMi 74730711.

Proteomic databases

MaxQBi Q8WUH2.
PaxDbi Q8WUH2.
PRIDEi Q8WUH2.

Protocols and materials databases

DNASUi 9392.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000258449 ; ENSP00000258449 ; ENSG00000135966 .
ENST00000393359 ; ENSP00000377027 ; ENSG00000135966 .
GeneIDi 9392.
KEGGi hsa:9392.
UCSCi uc002tcq.3. human.

Organism-specific databases

CTDi 9392.
GeneCardsi GC02M105880.
HGNCi HGNC:16836. TGFBRAP1.
HPAi HPA038397.
MIMi 606237. gene.
neXtProti NX_Q8WUH2.
PharmGKBi PA134963946.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG254275.
HOGENOMi HOG000007291.
HOVERGENi HBG108563.
InParanoidi Q8WUH2.
OMAi CFVYHFL.
OrthoDBi EOG7RBZ7Q.
PhylomeDBi Q8WUH2.
TreeFami TF328650.

Enzyme and pathway databases

SignaLinki Q8WUH2.

Miscellaneous databases

GenomeRNAii 9392.
NextBioi 35191.
PROi Q8WUH2.
SOURCEi Search...

Gene expression databases

Bgeei Q8WUH2.
CleanExi HS_TGFBRAP1.
Genevestigatori Q8WUH2.

Family and domain databases

InterProi IPR001180. Citron.
IPR000547. Clathrin_H-chain/VPS_repeat.
IPR019452. VPS39/TGF_beta_rcpt-assoc_1.
IPR019453. VPS39/TGF_beta_rcpt-assoc_2.
[Graphical view ]
Pfami PF00637. Clathrin. 1 hit.
PF00780. CNH. 1 hit.
PF10366. Vps39_1. 1 hit.
PF10367. Vps39_2. 1 hit.
[Graphical view ]
PROSITEi PS50236. CHCR. 1 hit.
PS50219. CNH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A novel protein distinguishes between quiescent and activated forms of the type I transforming growth factor beta receptor."
    Charng M.-J., Zhang D., Kinnunen P., Schneider M.D.
    J. Biol. Chem. 273:9365-9368(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, INTERACTION WITH TGFBR1, VARIANT ARG-725.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ARG-725.
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Lymph.
  6. Cited for: INTERACTION WITH ALOX5.
  7. "Transforming growth factor-beta receptor-associated protein 1 is a Smad4 chaperone."
    Wurthner J.U., Frank D.B., Felici A., Green H.M., Cao Z., Schneider M.D., McNally J.G., Lechleider R.J., Roberts A.B.
    J. Biol. Chem. 276:19495-19502(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH TGFBR2; ACVR2B; TGFBR1; ACVRL1; BMPR1A; ACVR1B2 AND SMAD4, SUBCELLULAR LOCATION.
  8. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiTGFA1_HUMAN
AccessioniPrimary (citable) accession number: Q8WUH2
Secondary accession number(s): A8K5R7, D3DVJ8, O60466
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 22, 2008
Last sequence update: March 1, 2002
Last modified: July 9, 2014
This is version 84 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

In (1 Publication) and in (1 Publication) experimental information is given for a truncated version of TGFBRAP1 (sequence of 474-860), which was later shown to act as a dominant negative.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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