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Q9H0C5

- BTBD1_HUMAN

UniProt

Q9H0C5 - BTBD1_HUMAN

Protein

BTB/POZ domain-containing protein 1

Gene

BTBD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    Probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.1 Publication

    Pathwayi

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. protein ubiquitination Source: UniProtKB-UniPathway
    2. regulation of protein binding Source: UniProtKB

    Keywords - Biological processi

    Ubl conjugation pathway

    Enzyme and pathway databases

    UniPathwayiUPA00143.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    BTB/POZ domain-containing protein 1
    Alternative name(s):
    Hepatitis C virus NS5A-transactivated protein 8
    Short name:
    HCV NS5A-transactivated protein 8
    Gene namesi
    Name:BTBD1
    Synonyms:C15orf1, NS5ATP8
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:1120. BTBD1.

    Subcellular locationi

    CytoplasmP-body 1 Publication
    Note: Cytoplasmic bodies.

    GO - Cellular componenti

    1. cytoplasmic mRNA processing body Source: UniProtKB
    2. protein complex Source: LIFEdb

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25438.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 482482BTB/POZ domain-containing protein 1PRO_0000186208Add
    BLAST

    Proteomic databases

    MaxQBiQ9H0C5.
    PaxDbiQ9H0C5.
    PRIDEiQ9H0C5.

    PTM databases

    PhosphoSiteiQ9H0C5.

    Expressioni

    Tissue specificityi

    Ubiquitous; higher levels in heart and skeletal muscle.1 Publication

    Gene expression databases

    ArrayExpressiQ9H0C5.
    BgeeiQ9H0C5.
    CleanExiHS_BTBD1.
    GenevestigatoriQ9H0C5.

    Interactioni

    Subunit structurei

    Interacts with topoisomerase 1 and with TRIM5 isoform Delta. Interacts with CUL3.2 Publications

    Protein-protein interaction databases

    BioGridi119740. 10 interactions.
    IntActiQ9H0C5. 5 interactions.
    MINTiMINT-4716638.
    STRINGi9606.ENSP00000261721.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H0C5.
    SMRiQ9H0C5. Positions 62-247, 328-482.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini69 – 14577BTBPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi25 – 317Poly-Pro

    Sequence similaritiesi

    Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG308618.
    HOGENOMiHOG000293364.
    HOVERGENiHBG050743.
    InParanoidiQ9H0C5.
    KOiK10477.
    OMAiRIRFNVN.
    OrthoDBiEOG73BVC6.
    PhylomeDBiQ9H0C5.
    TreeFamiTF106482.

    Family and domain databases

    Gene3Di3.30.710.10. 1 hit.
    InterProiIPR011705. BACK.
    IPR000210. BTB/POZ-like.
    IPR011333. BTB/POZ_fold.
    IPR013069. BTB_POZ.
    IPR012983. PHR.
    [Graphical view]
    PfamiPF07707. BACK. 1 hit.
    PF00651. BTB. 1 hit.
    PF08005. PHR. 1 hit.
    [Graphical view]
    SMARTiSM00875. BACK. 1 hit.
    SM00225. BTB. 1 hit.
    [Graphical view]
    SUPFAMiSSF54695. SSF54695. 1 hit.
    PROSITEiPS50097. BTB. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9H0C5-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MASLGPAAAG EQASGAEAEP GPAGPPPPPS PSSLGPLLPL QREPLYNWQA    50
    TKASLKERFA FLFNSELLSD VRFVLGKGRG AAAAGGPQRI PAHRFVLAAG 100
    SAVFDAMFNG GMATTSAEIE LPDVEPAAFL ALLRFLYSDE VQIGPETVMT 150
    TLYTAKKYAV PALEAHCVEF LTKHLRADNA FMLLTQARLF DEPQLASLCL 200
    DTIDKSTMDA ISAEGFTDID IDTLCAVLER DTLSIRESRL FGAVVRWAEA 250
    ECQRQQLPVT FGNKQKVLGK ALSLIRFPLM TIEEFAAGPA QSGILSDREV 300
    VNLFLHFTVN PKPRVEYIDR PRCCLRGKEC CINRFQQVES RWGYSGTSDR 350
    IRFTVNRRIS IVGFGLYGSI HGPTDYQVNI QIIEYEKKQT LGQNDTGFSC 400
    DGTANTFRVM FKEPIEILPN VCYTACATLK GPDSHYGTKG LKKVVHETPA 450
    ASKTVFFFFS SPGNNNGTSI EDGQIPEIIF YT 482
    Length:482
    Mass (Da):52,771
    Last modified:March 1, 2001 - v1
    Checksum:i525A49E01728AFF0
    GO
    Isoform 2 (identifier: Q9H0C5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         353-386: FTVNRRISIVGFGLYGSIHGPTDYQVNIQIIEYE → SLNMRKSKPWDRMIPALVVMGQLTHSGSCSRNP
         387-482: Missing.

    Note: Gene prediction based on EST data.

    Show »
    Length:385
    Mass (Da):42,117
    Checksum:i8630C1107EFDA4E3
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti406 – 4061T → A in BAA91345. (PubMed:14702039)Curated
    Sequence conflicti422 – 4221C → G in AAK25825. (PubMed:11818025)Curated
    Sequence conflicti429 – 4291L → P in BAA91345. (PubMed:14702039)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei353 – 38634FTVNR…IIEYE → SLNMRKSKPWDRMIPALVVM GQLTHSGSCSRNP in isoform 2. CuratedVSP_047146Add
    BLAST
    Alternative sequencei387 – 48296Missing in isoform 2. CuratedVSP_047147Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136853 mRNA. Translation: CAB66787.1.
    AF355402 mRNA. Translation: AAK25825.1.
    AF257241 mRNA. Translation: AAK17068.1.
    AK000731 mRNA. Translation: BAA91345.1.
    AF529369 mRNA. Translation: AAQ09603.1.
    AC022558 Genomic DNA. No translation available.
    AC024270 Genomic DNA. No translation available.
    BC028097 mRNA. Translation: AAH28097.1.
    CCDSiCCDS10322.1. [Q9H0C5-1]
    CCDS32313.1. [Q9H0C5-2]
    RefSeqiNP_001011885.1. NM_001011885.1. [Q9H0C5-2]
    NP_079514.1. NM_025238.3. [Q9H0C5-1]
    UniGeneiHs.459149.

    Genome annotation databases

    EnsembliENST00000261721; ENSP00000261721; ENSG00000064726. [Q9H0C5-1]
    ENST00000379403; ENSP00000368713; ENSG00000064726. [Q9H0C5-2]
    GeneIDi53339.
    KEGGihsa:53339.
    UCSCiuc002bjn.3. human. [Q9H0C5-1]

    Polymorphism databases

    DMDMi20137477.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136853 mRNA. Translation: CAB66787.1 .
    AF355402 mRNA. Translation: AAK25825.1 .
    AF257241 mRNA. Translation: AAK17068.1 .
    AK000731 mRNA. Translation: BAA91345.1 .
    AF529369 mRNA. Translation: AAQ09603.1 .
    AC022558 Genomic DNA. No translation available.
    AC024270 Genomic DNA. No translation available.
    BC028097 mRNA. Translation: AAH28097.1 .
    CCDSi CCDS10322.1. [Q9H0C5-1 ]
    CCDS32313.1. [Q9H0C5-2 ]
    RefSeqi NP_001011885.1. NM_001011885.1. [Q9H0C5-2 ]
    NP_079514.1. NM_025238.3. [Q9H0C5-1 ]
    UniGenei Hs.459149.

    3D structure databases

    ProteinModelPortali Q9H0C5.
    SMRi Q9H0C5. Positions 62-247, 328-482.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119740. 10 interactions.
    IntActi Q9H0C5. 5 interactions.
    MINTi MINT-4716638.
    STRINGi 9606.ENSP00000261721.

    PTM databases

    PhosphoSitei Q9H0C5.

    Polymorphism databases

    DMDMi 20137477.

    Proteomic databases

    MaxQBi Q9H0C5.
    PaxDbi Q9H0C5.
    PRIDEi Q9H0C5.

    Protocols and materials databases

    DNASUi 53339.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000261721 ; ENSP00000261721 ; ENSG00000064726 . [Q9H0C5-1 ]
    ENST00000379403 ; ENSP00000368713 ; ENSG00000064726 . [Q9H0C5-2 ]
    GeneIDi 53339.
    KEGGi hsa:53339.
    UCSCi uc002bjn.3. human. [Q9H0C5-1 ]

    Organism-specific databases

    CTDi 53339.
    GeneCardsi GC15M083685.
    HGNCi HGNC:1120. BTBD1.
    MIMi 608530. gene.
    neXtProti NX_Q9H0C5.
    PharmGKBi PA25438.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG308618.
    HOGENOMi HOG000293364.
    HOVERGENi HBG050743.
    InParanoidi Q9H0C5.
    KOi K10477.
    OMAi RIRFNVN.
    OrthoDBi EOG73BVC6.
    PhylomeDBi Q9H0C5.
    TreeFami TF106482.

    Enzyme and pathway databases

    UniPathwayi UPA00143 .

    Miscellaneous databases

    GeneWikii BTBD1.
    GenomeRNAii 53339.
    NextBioi 55964.
    PROi Q9H0C5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H0C5.
    Bgeei Q9H0C5.
    CleanExi HS_BTBD1.
    Genevestigatori Q9H0C5.

    Family and domain databases

    Gene3Di 3.30.710.10. 1 hit.
    InterProi IPR011705. BACK.
    IPR000210. BTB/POZ-like.
    IPR011333. BTB/POZ_fold.
    IPR013069. BTB_POZ.
    IPR012983. PHR.
    [Graphical view ]
    Pfami PF07707. BACK. 1 hit.
    PF00651. BTB. 1 hit.
    PF08005. PHR. 1 hit.
    [Graphical view ]
    SMARTi SM00875. BACK. 1 hit.
    SM00225. BTB. 1 hit.
    [Graphical view ]
    SUPFAMi SSF54695. SSF54695. 1 hit.
    PROSITEi PS50097. BTB. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24."
      Carim-Todd L., Sumoy L., Andreu N., Estivill X., Escarceller M.
      Gene 262:275-281(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    2. "Characterization of BTBD1 and BTBD2, two similar BTB-domain-containing Kelch-like proteins that interact with topoisomerase I."
      Xu L., Yang L., Hashimoto K., Anderson M., Kohlhagen G., Pommier Y., D'Arpa P.
      BMC Genomics 3:1-1(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. "Cloning and identification of human gene 8 transactivated by hepatitis C virus NS5A protein."
      Liu Y., Cheng J., Wang G., Wang J., Zhang L., Chen J., Li L.
      Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Testis.
    5. "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] (ISOFORM 1).
    6. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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] (ISOFORM 1).
      Tissue: Brain.
    8. "BTBD1 and BTBD2 colocalize to cytoplasmic bodies with the RBCC/tripartite motif protein, TRIM5delta."
      Xu L., Yang L., Moitra P.K., Hashimoto K., Rallabhandi P., Kaul S., Meroni G., Jensen J.P., Weissman A.M., D'Arpa P.
      Exp. Cell Res. 288:84-93(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, INTERACTION WITH TRIM5.
    9. "Targeting of protein ubiquitination by BTB-Cullin 3-Roc1 ubiquitin ligases."
      Furukawa M., He Y.J., Borchers C., Xiong Y.
      Nat. Cell Biol. 5:1001-1007(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION AS AN E3 UBIQUITIN-PROTEIN LIGASE, INTERACTION WITH CUL3.

    Entry informationi

    Entry nameiBTBD1_HUMAN
    AccessioniPrimary (citable) accession number: Q9H0C5
    Secondary accession number(s): A6NMI8, Q9BX71, Q9NWN4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 23, 2002
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 119 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3