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Q8WUH2

- TGFA1_HUMAN

UniProt

Q8WUH2 - TGFA1_HUMAN

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
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    • History
      Entry version 85 (01 Oct 2014)
      Sequence version 1 (01 Mar 2002)
      Previous versions | rss
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    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. protein binding Source: UniProtKB
    2. SMAD binding Source: UniProtKB
    3. small GTPase regulator activity Source: InterPro
    4. transforming growth factor beta receptor binding Source: UniProtKB

    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

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

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. membrane Source: UniProtKB

    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 1PRO_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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini24 – 297274CNHPROSITE-ProRule annotationAdd
    BLAST
    Repeati564 – 728165CHCRAdd
    BLAST

    Sequence similaritiesi

    Belongs to the TRAP1 family.Curated
    Contains 1 CHCR (clathrin heavy-chain) repeat.PROSITE-ProRule annotation
    Contains 1 CNH domain.PROSITE-ProRule annotation

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti805 – 8051L → S in BAF84071. (PubMed:14702039)Curated

    Natural variant

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

    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...
    MobiDBi 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

    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: October 1, 2014
    This is version 85 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 (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.2 Publications

    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