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Q9H0C5

- BTBD1_HUMAN

UniProt

Q9H0C5 - BTBD1_HUMAN

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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

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 - Biological processi

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

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
Complete GO annotation...

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

BgeeiQ9H0C5.
CleanExiHS_BTBD1.
ExpressionAtlasiQ9H0C5. baseline and differential.
GenevestigatoriQ9H0C5.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi119740. 19 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.
GeneTreeiENSGT00550000074511.
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

        10         20         30         40         50
MASLGPAAAG EQASGAEAEP GPAGPPPPPS PSSLGPLLPL QREPLYNWQA
60 70 80 90 100
TKASLKERFA FLFNSELLSD VRFVLGKGRG AAAAGGPQRI PAHRFVLAAG
110 120 130 140 150
SAVFDAMFNG GMATTSAEIE LPDVEPAAFL ALLRFLYSDE VQIGPETVMT
160 170 180 190 200
TLYTAKKYAV PALEAHCVEF LTKHLRADNA FMLLTQARLF DEPQLASLCL
210 220 230 240 250
DTIDKSTMDA ISAEGFTDID IDTLCAVLER DTLSIRESRL FGAVVRWAEA
260 270 280 290 300
ECQRQQLPVT FGNKQKVLGK ALSLIRFPLM TIEEFAAGPA QSGILSDREV
310 320 330 340 350
VNLFLHFTVN PKPRVEYIDR PRCCLRGKEC CINRFQQVES RWGYSGTSDR
360 370 380 390 400
IRFTVNRRIS IVGFGLYGSI HGPTDYQVNI QIIEYEKKQT LGQNDTGFSC
410 420 430 440 450
DGTANTFRVM FKEPIEILPN VCYTACATLK GPDSHYGTKG LKKVVHETPA
460 470 480
ASKTVFFFFS SPGNNNGTSI EDGQIPEIIF YT
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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. 19 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.
GeneTreei ENSGT00550000074511.
HOGENOMi HOG000293364.
HOVERGENi HBG050743.
InParanoidi Q9H0C5.
KOi K10477.
OMAi RIRFNVN.
OrthoDBi EOG73BVC6.
PhylomeDBi Q9H0C5.
TreeFami TF106482.

Enzyme and pathway databases

UniPathwayi UPA00143 .

Miscellaneous databases

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

Gene expression databases

Bgeei Q9H0C5.
CleanExi HS_BTBD1.
ExpressionAtlasi Q9H0C5. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 121 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