KBTBD8 kelch repeat and BTB domain containing 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KBTBD8provided by HGNC
Official Full Name: kelch repeat and BTB domain containing 8provided by HGNC
Primary source: HGNC:HGNC:30691
See related: Ensembl:ENSG00000163376 MIM:616607; AllianceGenome:HGNC:30691
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TAKRP; TA-KRP
Summary: Involved in neural crest cell development; neural crest formation; and protein monoubiquitination. Part of Cul3-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in lymph node (RPKM 10.1), testis (RPKM 4.7) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p14.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (66998307..67011210)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (67043303..67056206)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (67048731..67061634)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Downregulation of the ubiquitin ligase KBTBD8 prevented epithelial ovarian cancer progression.
Title: Downregulation of the ubiquitin ligase KBTBD8 prevented epithelial ovarian cancer progression.
The authors found that CUL3 complexed with KBTBD8 monoubiquitylates its essential targets only after these have been phosphorylated in multiple motifs by CK2, a kinase whose levels gradually increase during embryogenesis.
Title: Multisite dependency of an E3 ligase controls monoubiquitylation-dependent cell fate decisions.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Identification of 15 loci influencing height in a Korean population.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3S4381 (e-PCR)
- UniSTS:474132

TA-KRP_1687 (e-PCR)
- UniSTS:277793

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-like ligase-substrate adaptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in neural crest cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neural crest formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein monoubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of translation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of Cul3-RING ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Cul3-RING ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in spindle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: kelch repeat and BTB domain-containing protein 8

Names: T-cell activation kelch repeat protein; kelch repeat and BTB (POZ) domain containing 8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_032505.3 → NP_115894.2 kelch repeat and BTB domain-containing protein 8

See identical proteins and their annotated locations for NP_115894.2

Status: VALIDATED

Source sequence(s)

AF385438, AK096640, DA246470, DB065239

Consensus CDS

CCDS2906.2

UniProtKB/Swiss-Prot

B4DTW6, Q8NFY9, Q96JI5

Related

ENSP00000401878.2, ENST00000417314.2

Conserved Domains (6) summary

smart00612
Location:337 → 388

Kelch; Kelch domain

PHA03098
Location:50 → 516

PHA03098; kelch-like protein; Provisional

sd00038
Location:330 → 376

Kelch; KELCH repeat [structural motif]

pfam00651
Location:39 → 144

BTB; BTB/POZ domain

pfam01344
Location:379 → 428

Kelch_1; Kelch motif

pfam07707
Location:153 → 250

BACK; BTB And C-terminal Kelch

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

66998307..67011210

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005264771.4 → XP_005264828.1 kelch repeat and BTB domain-containing protein 8 isoform X1

Conserved Domains (5) summary

smart00612
Location:260 → 311

Kelch; Kelch domain

sd00038
Location:253 → 299

Kelch; KELCH repeat [structural motif]

pfam00651
Location:1 → 67

BTB; BTB/POZ domain

pfam01344
Location:302 → 351

Kelch_1; Kelch motif

pfam07707
Location:76 → 173

BACK; BTB And C-terminal Kelch