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Q9H0C5 (BTBD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 115. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:BTBD1
Synonyms:C15orf1, NS5ATP8
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length482 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Ref.9

Pathway

Protein modification; protein ubiquitination.

Subunit structure

Interacts with topoisomerase 1 and with TRIM5 isoform Delta Interacts with CUL3. Ref.8 Ref.9

Subcellular location

CytoplasmP-body. Note: Cytoplasmic bodies. Ref.8

Tissue specificity

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

Sequence similarities

Contains 1 BTB (POZ) domain.

Ontologies

Keywords
   Biological processUbl conjugation pathway
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processprotein ubiquitination

Inferred from electronic annotation. Source: UniProtKB-UniPathway

regulation of protein binding

Non-traceable author statement Ref.1. Source: UniProtKB

   Cellular_componentcytoplasmic mRNA processing body

Inferred from direct assay Ref.8. Source: UniProtKB

protein complex

Inferred from direct assay. Source: LIFEdb

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9H0C5-1)

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.
Isoform 2 (identifier: Q9H0C5-2)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 482482BTB/POZ domain-containing protein 1
PRO_0000186208

Regions

Domain69 – 14577BTB
Compositional bias25 – 317Poly-Pro

Natural variations

Alternative sequence353 – 38634FTVNR…IIEYE → SLNMRKSKPWDRMIPALVVM GQLTHSGSCSRNP in isoform 2.
VSP_047146
Alternative sequence387 – 48296Missing in isoform 2.
VSP_047147

Experimental info

Sequence conflict4061T → A in BAA91345. Ref.5
Sequence conflict4221C → G in AAK25825. Ref.2
Sequence conflict4291L → P in BAA91345. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: 525A49E01728AFF0

FASTA48252,771
        10         20         30         40         50         60 
MASLGPAAAG EQASGAEAEP GPAGPPPPPS PSSLGPLLPL QREPLYNWQA TKASLKERFA 

        70         80         90        100        110        120 
FLFNSELLSD VRFVLGKGRG AAAAGGPQRI PAHRFVLAAG SAVFDAMFNG GMATTSAEIE 

       130        140        150        160        170        180 
LPDVEPAAFL ALLRFLYSDE VQIGPETVMT TLYTAKKYAV PALEAHCVEF LTKHLRADNA 

       190        200        210        220        230        240 
FMLLTQARLF DEPQLASLCL DTIDKSTMDA ISAEGFTDID IDTLCAVLER DTLSIRESRL 

       250        260        270        280        290        300 
FGAVVRWAEA ECQRQQLPVT FGNKQKVLGK ALSLIRFPLM TIEEFAAGPA QSGILSDREV 

       310        320        330        340        350        360 
VNLFLHFTVN PKPRVEYIDR PRCCLRGKEC CINRFQQVES RWGYSGTSDR IRFTVNRRIS 

       370        380        390        400        410        420 
IVGFGLYGSI HGPTDYQVNI QIIEYEKKQT LGQNDTGFSC DGTANTFRVM FKEPIEILPN 

       430        440        450        460        470        480 
VCYTACATLK GPDSHYGTKG LKKVVHETPA ASKTVFFFFS SPGNNNGTSI EDGQIPEIIF 


YT 

« Hide

Isoform 2 [UniParc].

Checksum: 8630C1107EFDA4E3
Show »

FASTA38542,117

References

« Hide 'large scale' references
[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]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001011885.1. NM_001011885.1.
NP_079514.1. NM_025238.3.
UniGeneHs.459149.

3D structure databases

ProteinModelPortalQ9H0C5.
SMRQ9H0C5. Positions 53-250, 328-482.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119740. 10 interactions.
IntActQ9H0C5. 5 interactions.
MINTMINT-4716638.
STRING9606.ENSP00000261721.

PTM databases

PhosphoSiteQ9H0C5.

Polymorphism databases

DMDM20137477.

Proteomic databases

PaxDbQ9H0C5.
PRIDEQ9H0C5.

Protocols and materials databases

DNASU53339.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000261721; ENSP00000261721; ENSG00000064726. [Q9H0C5-1]
ENST00000379403; ENSP00000368713; ENSG00000064726. [Q9H0C5-2]
GeneID53339.
KEGGhsa:53339.
UCSCuc002bjn.3. human. [Q9H0C5-1]

Organism-specific databases

CTD53339.
GeneCardsGC15M083685.
HGNCHGNC:1120. BTBD1.
MIM608530. gene.
neXtProtNX_Q9H0C5.
PharmGKBPA25438.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG308618.
HOGENOMHOG000293364.
HOVERGENHBG050743.
InParanoidQ9H0C5.
KOK10477.
OMARIRFNVN.
OrthoDBEOG73BVC6.
PhylomeDBQ9H0C5.
TreeFamTF106482.

Enzyme and pathway databases

UniPathwayUPA00143.

Gene expression databases

ArrayExpressQ9H0C5.
BgeeQ9H0C5.
CleanExHS_BTBD1.
GenevestigatorQ9H0C5.

Family and domain databases

Gene3D3.30.710.10. 1 hit.
InterProIPR011705. BACK.
IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR012983. PHR.
[Graphical view]
PfamPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF08005. PHR. 1 hit.
[Graphical view]
SMARTSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
[Graphical view]
SUPFAMSSF54695. SSF54695. 1 hit.
PROSITEPS50097. BTB. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiBTBD1.
GenomeRNAi53339.
NextBio55964.
PROQ9H0C5.
SOURCESearch...

Entry information

Entry nameBTBD1_HUMAN
AccessionPrimary (citable) accession number: Q9H0C5
Secondary accession number(s): A6NMI8, Q9BX71, Q9NWN4
Entry history
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: March 1, 2001
Last modified: March 19, 2014
This is version 115 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM