BTBD1 Gene
protein-coding GIFtS: 51
GCID: GC15M083685
|
|
BTB (POZ) domain containing 1
| |
Aliases
for BTBD1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| BTB (POZ) Domain Containing 11 2 | | HCV NS5A-Transactivated Protein 82 3 | | Hepatitis C Virus NS5A-Transactivated Protein 82 3 | | BTB Domain Containing 12 | | C15orf12 3 | | BTB/POZ Domain-Containing Protein 12 | | NS5ATP82 3 | | |
Export aliases for BTBD1 gene to outside databasesPrevious GC identifers: GC15M079611 GC15M076717 GC15M081263 GC15M081404 GC15M081476 GC15M059948 |
Summaries
for BTBD1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for BTBD1:
The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich regionand a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typicallyinvolved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. Alternativesplicing results in multiple transcript variants encoding different isoforms. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: BTBD1_HUMAN, Q9H0C5Function: Probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates theubiquitination and subsequent proteasomal degradation of target proteins
Gene Wiki entry for BTBD1
|
Genomic Views
for BTBD1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000015.9 NC_018926.1 NT_077661.3
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the BTBD1 gene promoter:
Lmo2 GATA-1 YY1 GATA-2 c-Ets-1 FOXJ2 (long isoform) FOXJ2 RSRFC4
Other transcription factors
Search SABiosciences Chromatin IP Primers for BTBD1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BTBD1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 15q24 Ensembl cytogenetic band: 15q25.2 HGNC cytogenetic band: 15q24BTBD1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 15 GeneLoc Exon Structure GeneLoc location for GC15M083685: view genomic region
(about GC identifiers)
Start:
|
83,685,174 bp from pter |
End:
|
83,736,106 bp from pter |
Size:
|
50,933 bases |
Orientation:
|
minus strand |
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Proteins
for BTBD1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: BTBD1_HUMAN, Q9H0C5 (See
protein sequence)Recommended Name: BTB/POZ domain-containing protein 1 Size: 482 amino acids; 52771 Da
Subunit: Interacts with topoisomerase 1 and with TRIM5 isoform Delta. Interacts with CUL3
Subcellular location: Cytoplasm, P-body. Note=Cytoplasmic bodies
Secondary accessions: Q9BX71 Q9NWN4Explore the universe of human proteins at neXtProt for BTBD1: NX_Q9H0C5
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9H0C5
BTBD1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001011885.1 NP_079514.1
ENSEMBL proteins: ENSP00000261721 ENSP00000368713 ENSP00000453104
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
BTBD1 for ontologies About GeneDecksing
BTBD1 Antibody Products:
Assay Products for BTBD1: |
Protein
Domains /
Families
for BTBD1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
BTBD1 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9H0C5ProtoNet protein and cluster: Q9H0C5 3 Blocks protein families: IPB000210 BTB/POZ domain IPB011705 BTB/Kelch-associated IPB012983 PHR
UniProtKB/Swiss-Prot: BTBD1_HUMAN, Q9H0C5Similarity: Contains 1 BTB (POZ) domain |
Function
for BTBD1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: BTBD1_HUMAN, Q9H0C5Function: Probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates theubiquitination and subsequent proteasomal degradation of target proteins
Clone
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTBD1 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table
BTBD1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for BTBD1:
|
Pathways & Interactions
for BTBD1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
UniProtKB/Swiss-Prot: BTBD1_HUMAN, Q9H0C5Pathway: Protein modification; protein ubiquitinationInteractions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BTBD1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 7)
5/8 Interacting proteins for BTBD1 (Q9H0C53 ENSP000002617214) via UniProtKB, MINT, STRING, and/or I2D (see all 8) About this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table
BTBD1 for ontologies About GeneDecksing
|
Drugs & Compounds
for BTBD1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for BTBD1
Search CenterWatch for drugs/clinical trials and news about BTBD1
|
Transcripts
for BTBD1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for BTBD1 gene (2 alternative transcripts): NM_001011885.1 NM_025238.3 Unigene Cluster for BTBD1: BTB (POZ) domain containing 1 Hs.459149 [show with all ESTs]Unigene Representative Sequence: NM_0252385 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000261721(uc002bjn.3 uc002bjo.3) ENST00000379403 ENST00000559652
ENST00000558344 ENST00000560015
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BTBD1 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BTBD1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
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Additional cDNA sequence: AF257241.1 AF355402.1 AF529369.1 AK000731.1 AK225355.1 AK225362.1 AK294410.1 AK298534.1 AL136853.1 AY364253.1 BC017464.1 BC028097.1 7 DOTS entries: DT.217919 DT.91961832 DT.95308190 DT.95308138 DT.95308189 DT.121078764 DT.121078744 24/292 AceView cDNA sequences (see all 292): AA300965 AW167409 BI917013 BF725956 BG680088 AA856635 BF594632 AA453522 BG610970 CA428676 T30688 BM739490 AI824091 BM454731 AI086075 BU161396 AA343975 CR602779 AW957449 BQ050661 AA404453 CA428620 BQ894031 BM503211
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for BTBD1 About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 |
|---|
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| SP1: | | | | | | | | | | | | | | | - | | - | | - | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | - | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for BTBD1
|
Expression
for BTBD1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| BTBD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGCCATAAA
About this image
See BTBD1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BTBD1
SOURCE GeneReport for Unigene cluster: Hs.459149
UniProtKB/Swiss-Prot: BTBD1_HUMAN, Q9H0C5Tissue specificity: Ubiquitous; higher levels in heart and skeletal muscle
SABiosciences Expression via Pathway-Focused PCR Array including BTBD1:
Primer
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Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTBD1 |
Orthologs
for BTBD1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for BTBD1 gene from 4/17 species (see all 17) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
BTBD11 |
BTB (POZ) domain containing 1 |
84.93(n)
96.01(a) |
|
415461 NM_001005819.1 NP_001005819.1 |
lizard
(Anolis carolinensis) |
Reptilia |
BTBD16 |
-- |
86(a) |
1 ↔ 1 |
GL343836.1(155894-165670) |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG170686 |
-- |
16(a) |
possible ortholog |
X(20119377-20122516) |
worm
(Caenorhabditis elegans) |
Secernentea |
F38H4.73 |
BTB (also known as BR-C/Ttk) domain. |
55(a) |
|
IV(11851206-11855056) -- |
ENSEMBL Gene Tree for BTBD1 (if available)
TreeFam Gene Tree for BTBD1 (if available) |
Paralogs
for BTBD1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for BTBD1 gene
- BTBD22 BTBD62 BTBD192 BTBD32 BTBD92
4 SIMAP similar genes for BTBD1 using alignment to 4 protein entries: BTBD1_HUMAN (see all proteins):BTBD2 BTBD3 DKFZp434B055 BTBD6
BTBD1 for paralogs About GeneDecksing
|
Genomic Variants
for BTBD1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 15 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for BTBD1 (83685174 - 83736106 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for BTBD1
1 Inversion: 37171 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BTBD1 |
|
Disorders
/ Diseases
for BTBD1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
BTBD1 for disorders About GeneDecksing
OMIM gene information: 608530
OMIM disorders: --
4  diseases for BTBD1: About MalaCardshepatitis c hepatitis cerebellar ataxia ataxia
Export disorders for BTBD1 gene to outside databases
|
Publications
for BTBD1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for BTBD1 gene, integrated from 9 sources (see all 30):
(articles sorted by number of sources associating them with BTBD1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Characterization of BTBD1 and BTBD2, two similar BTB-domain- containing Kelch-like proteins that interact with topoisomerase I. (PubMed id 11818025)1, 2, 9 Xu L....D'Arpa P. (2002)
- Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24. (PubMed id 11179693)1, 2, 9 Carim-Todd L.... Escarceller M. (2001)
- BTBD1 and BTBD2 colocalize to cytoplasmic bodies with the RBCC/tripartite motif protein, TRIM5delta. (PubMed id 12878161)1, 2, 9 Xu L.... D'Arpa P. (2003)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
- Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
- Identification of novel susceptibility Loci for kawas aki disease in a Han chinese population by a genome-wide association study. (PubMed id 21326860)1 Tsai F.J....Wu J.Y. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
|
External Searches for BTBD1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing BTBD1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing BTBD1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing BTBD1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for BTBD1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for BTBD1 gene:
Search GeneIP for patents involving BTBD1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for BTBD1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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