Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	84078
Gene name	Kelch repeat and BTB domain containing 7
Gene symbol	KBTBD7
Synonyms (NCBI Gene)	-
Chromosome	13
Chromosome location	13q14.11
Summary	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 ubiqu

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miRTarBase ID	miRNA	Experiments	Reference
MIRT030713	hsa-miR-21-5p	Microarray	18591254
MIRT036875	hsa-miR-877-3p	CLASH	23622248
MIRT1079837	hsa-miR-2115	CLIP-seq
MIRT1079838	hsa-miR-3168	CLIP-seq
MIRT1079839	hsa-miR-3977	CLIP-seq
MIRT1079840	hsa-miR-4762-5p	CLIP-seq
MIRT1079841	hsa-miR-516a-3p	CLIP-seq
MIRT1079842	hsa-miR-587	CLIP-seq
MIRT2019875	hsa-miR-190	CLIP-seq
MIRT2019876	hsa-miR-190b	CLIP-seq
MIRT2019877	hsa-miR-3591-5p	CLIP-seq
MIRT2019878	hsa-miR-3646	CLIP-seq
MIRT2019879	hsa-miR-3662	CLIP-seq
MIRT2019880	hsa-miR-4528	CLIP-seq
MIRT2019881	hsa-miR-4698	CLIP-seq
MIRT2019882	hsa-miR-491-3p	CLIP-seq
MIRT2251731	hsa-miR-181a	CLIP-seq
MIRT2251732	hsa-miR-181b	CLIP-seq
MIRT2251733	hsa-miR-181c	CLIP-seq
MIRT2251734	hsa-miR-181d	CLIP-seq
MIRT2019875	hsa-miR-190	CLIP-seq
MIRT2019876	hsa-miR-190b	CLIP-seq
MIRT2251735	hsa-miR-4262	CLIP-seq
MIRT2251736	hsa-miR-4274	CLIP-seq
MIRT2251737	hsa-miR-4519	CLIP-seq
MIRT2251738	hsa-miR-936	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16169070, 20562859, 21145461, 21900206, 25416956, 25684205, 26496610, 28514442, 30190310, 32296183, 33961781, 34591642
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0009968	Process	Negative regulation of signal transduction	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IBA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IDA	25684205
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IEA
GO:0035020	Process	Regulation of Rac protein signal transduction	IBA
GO:0035020	Process	Regulation of Rac protein signal transduction	IEA
GO:0035020	Process	Regulation of Rac protein signal transduction	IMP	25684205
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	25684205
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	25684205
GO:0070936	Process	Protein K48-linked ubiquitination	IEA
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IBA

MIM	HGNC	e!Ensembl
617739	25266	ENSG00000120696

Q8WVZ9

Protein name

Kelch repeat and BTB domain-containing protein 7

Protein function

As part of the CUL3(KBTBD6/7) E3 ubiquitin ligase complex functions as a substrate adapter for the RAC1 guanine exchange factor (GEF) TIAM1, mediating its 'Lys-48' ubiquitination and proteasomal degradation (PubMed:25684205). By controlling this

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00651	BTB	53 → 168	BTB/POZ domain	Domain
PF01344	Kelch_1	424 → 471	Kelch motif	Repeat
PF07707	BACK	173 → 277	BTB And C-terminal Kelch	Domain

Sequence

MQSREDVPRSRRLASPRGGRRPKRISKPSVSAFFTGPEELKDTAHSAALLAQLKSFYDAR
LLCDVTIEVVTPGSGPGTGRLFSCNRNVLAAACPYFKSMFTGGMYESQQASVTMHDVDAE
SFEVLVDYCYTGRVSLSEANVQRLYAASDMLQLEYVREACASFLARRLDLTNCTAILKFA
DAFDHHKLRSQAQSYIAHNFKQLSRMGSIREETLADLTLAQLLAVLRLDSLDIESERTVC
HVAVQWLEAAAKERGPSAAEVFKCVRWMHFTEEDQDYLEGLLTKPIVKKYCLDVIEGALQ
MRYGDLLYKSLVPVPNSSSSSSSSNSLVSAAENPPQRLGMCAKEMVIFFGHPRDPFLCYD
PYSGDIYTMPSPLTSFAHTKTVTSSAVCVSPDHDIYLAAQPRKDLWVYKPAQNSWQQLAD
RLLCREGMDVAYLNGYIYILGGRDPITGVKLKEVECYSVQRNQWALVAPVPHSFYSFELI
VVQNYLYAVNSKRMLCYDPSHNMWLNCASLKRSDFQEACVFNDEIYCICDIPVMKVYNPA
RGEWRRISNIPLDSETHNYQIVNHDQKLLLITSTTPQWKKNRVTVYEYDTREDQWINIGT
MLGLLQFDSGFICLCARVYPSCLEPGQSFITEEDDARSESSTEWDLDGFSELDSESGSSS
SFSDDEVWVQVAPQRNAQDQQGSL

Sequence length

684

Interactions

View interactions

Reactome Pathway
Regulation of RAS by GAPs
Neddylation
Antigen processing: Ubiquitination & Proteasome degradation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Oromandibular-limb hypogenesis spectrum	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Glioblastoma	Glioblastoma	BEFREE	23661552		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	36174000	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	35499228	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29991775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	35499228	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

KBTBD7 (kelch repeat and BTB domain containing 7)

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