Human Gene KBTBD7 (uc001uxw.1) Description and Page Index
  Description: Homo sapiens kelch repeat and BTB (POZ) domain containing 7 (KBTBD7), mRNA.
RefSeq Summary (NM_032138): The protein encoded by this gene is a transcriptional activator, having been shown to increase the transcription of activator protein-1 and serum response element. The encoded protein can also form a complex with KBTBD6 and CUL3, which regulates the ubiquitylation and degradation of TIAM1, which is a regulator of RAC1. [provided by RefSeq, Jul 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript is intronless :: AK091344.1, FJ150424.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr13:41,765,711-41,768,702 Size: 2,992 Total Exon Count: 1 Strand: -
Coding Region
   Position: hg19 chr13:41,766,339-41,768,393 Size: 2,055 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr13:41,765,711-41,768,702)mRNA (may differ from genome)Protein (684 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Kelch repeat and BTB domain-containing protein 7;
INTERACTION: O95166:GABARAP; NbExp=2; IntAct=EBI-473695, EBI-712001; Q9H0R8:GABARAPL1; NbExp=3; IntAct=EBI-473695, EBI-746969; P60520:GABARAPL2; NbExp=2; IntAct=EBI-473695, EBI-720116; Q9GZQ8:MAP1LC3B; NbExp=3; IntAct=EBI-473695, EBI-373144; Q9BXW4:MAP1LC3C; NbExp=2; IntAct=EBI-473695, EBI-2603996;
SIMILARITY: Contains 1 BTB (POZ) domain.
SIMILARITY: Contains 5 Kelch repeats.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): KBTBD7
CDC HuGE Published Literature: KBTBD7

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.33 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 100.59 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -150.90309-0.488 Picture PostScript Text
3' UTR -143.40628-0.228 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011705 - BACK
IPR000210 - BTB/POZ-like
IPR011333 - BTB/POZ_fold
IPR013069 - BTB_POZ
IPR017096 - Kelch-like_gigaxonin
IPR015915 - Kelch-typ_b-propeller
IPR006652 - Kelch_1

Pfam Domains:
PF00651 - BTB/POZ domain
PF01344 - Kelch motif
PF07707 - BTB And C-terminal Kelch

SCOP Domains:
50965 - Galactose oxidase, central domain
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
54695 - POZ domain

ModBase Predicted Comparative 3D Structure on Q8WVZ9
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein SequenceProtein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0005515 protein binding
GO:0004842 ubiquitin-protein transferase activity

Biological Process:
GO:0000165 MAPK cascade
GO:0008150 biological_process
GO:0016567 protein ubiquitination
GO:0043687 post-translational protein modification

Cellular Component:
GO:0005575 cellular_component
GO:0005829 cytosol
GO:0031463 Cul3-RING ubiquitin ligase complex

-  Descriptions from all associated GenBank mRNAs
  LP895282 - Sequence 146 from Patent EP3253886.
AL136782 - Homo sapiens mRNA; cDNA DKFZp434E2318 (from clone DKFZp434E2318).
AK091344 - Homo sapiens cDNA FLJ34025 fis, clone FCBBF2003336, weakly similar to RING CANAL PROTEIN.
AX746923 - Sequence 448 from Patent EP1308459.
BC022033 - Homo sapiens kelch repeat and BTB (POZ) domain containing 7, mRNA (cDNA clone MGC:26978 IMAGE:4825536), complete cds.
FJ150424 - Homo sapiens kelch repeat and BTB POZ-domain containing 7 (KBTBD7) mRNA, complete cds.
JD541483 - Sequence 522507 from Patent EP1572962.
AK299614 - Homo sapiens cDNA FLJ51290 complete cds, highly similar to Kelch repeat and BTB domain-containing protein 7.
JD288667 - Sequence 269691 from Patent EP1572962.
JD504107 - Sequence 485131 from Patent EP1572962.
CR533558 - Homo sapiens full open reading frame cDNA clone RZPDo834H0521D for gene KBTBD7, kelch repeat and BTB (POZ) domain containing 7; complete cds, incl. stopcodon.
AK315589 - Homo sapiens cDNA, FLJ96667.
KJ894932 - Synthetic construct Homo sapiens clone ccsbBroadEn_04326 KBTBD7 gene, encodes complete protein.
DQ890838 - Synthetic construct clone IMAGE:100003468; FLH166358.01X; RZPDo839F1186D kelch repeat and BTB (POZ) domain containing 7 (KBTBD7) gene, encodes complete protein.
DQ893994 - Synthetic construct Homo sapiens clone IMAGE:100008454; FLH166354.01L; RZPDo839F1185D kelch repeat and BTB (POZ) domain containing 7 (KBTBD7) gene, encodes complete protein.
AB464601 - Synthetic construct DNA, clone: pF1KB9621, Homo sapiens KBTBD7 gene for kelch repeat and BTB (POZ) domain containing 7, without stop codon, in Flexi system.
AM393035 - Synthetic construct Homo sapiens clone IMAGE:100001695 for hypothetical protein (KBTBD7 gene).
AM393575 - Synthetic construct Homo sapiens clone IMAGE:100001693 for hypothetical protein (KBTBD7 gene).
CU692470 - Synthetic construct Homo sapiens gateway clone IMAGE:100020011 5' read KBTBD7 mRNA.
JD547258 - Sequence 528282 from Patent EP1572962.
JD120076 - Sequence 101100 from Patent EP1572962.
JD156252 - Sequence 137276 from Patent EP1572962.
JD427033 - Sequence 408057 from Patent EP1572962.
JD336355 - Sequence 317379 from Patent EP1572962.
JD336354 - Sequence 317378 from Patent EP1572962.
JD492560 - Sequence 473584 from Patent EP1572962.
JD201902 - Sequence 182926 from Patent EP1572962.
JD407105 - Sequence 388129 from Patent EP1572962.
JD173471 - Sequence 154495 from Patent EP1572962.
JD478356 - Sequence 459380 from Patent EP1572962.
JD203591 - Sequence 184615 from Patent EP1572962.
JD217532 - Sequence 198556 from Patent EP1572962.
JD487780 - Sequence 468804 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8WVZ9 (Reactome details) participates in the following event(s):

R-HSA-5658424 KBTBD7:CUL3:RBX1 ubiquitinates NF1
R-HSA-8955241 CAND1 binds cytosolic CRL E3 ubiquitin ligases
R-HSA-983157 Interaction of E3 with substrate and E2-Ub complex
R-HSA-983147 Release of E3 from polyubiquitinated substrate
R-HSA-8955289 COMMDs displace CAND1 from cytosolic CRL E3 ubiquitin ligase complexes
R-HSA-8956040 COP9 signalosome deneddylates cytosolic CRL E3 ubiquitin ligase complexes
R-HSA-983140 Transfer of Ub from E2 to substrate and release of E2
R-HSA-5658442 Regulation of RAS by GAPs
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-5684996 MAPK1/MAPK3 signaling
R-HSA-597592 Post-translational protein modification
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-5683057 MAPK family signaling cascades
R-HSA-392499 Metabolism of proteins
R-HSA-1280218 Adaptive Immune System
R-HSA-162582 Signal Transduction
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: B5TZ86, KBTB7_HUMAN, NM_032138, NP_115514, Q5T6Y7, Q8NB99, Q8WVZ9, Q9H0I6
UCSC ID: uc001uxw.1
RefSeq Accession: NM_032138
Protein: Q8WVZ9 (aka KBTB7_HUMAN or KBT7_HUMAN)
CCDS: CCDS9377.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_032138.4
exon count: 1CDS single in 3' UTR: no RNA size: 3008
ORF size: 2055CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4305.50frame shift in genome: no % Coverage: 99.47
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.