Kbtbd8 kelch repeat and BTB (POZ) domain containing 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Kbtbd8provided by MGI
Official Full Name: kelch repeat and BTB (POZ) domain containing 8provided by MGI
Primary source: MGI:MGI:2661430
See related: Ensembl:ENSMUSG00000030031 AllianceGenome:MGI:2661430
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Takrp; SSEC51; SSEC-51; mKIAA1842
Summary: Predicted to be involved in neural crest cell development; neural crest formation; and protein monoubiquitination. Predicted to act upstream of or within regulation of translation. Predicted to be located in Golgi apparatus and cytoskeleton. Predicted to be part of Cul3-RING ubiquitin ligase complex. Is expressed in forelimb bud and genitourinary system. Orthologous to human KBTBD8 (kelch repeat and BTB domain containing 8). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in liver E14 (RPKM 2.0), CNS E11.5 (RPKM 1.6) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 D2; 6 44.32 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (95094861..95106774)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (95117880..95129793)

Chromosome 6 - NC_000072.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU040152 (e-PCR)
- UniSTS:179420

NoName (e-PCR)
- UniSTS:235507

Gene Ontology Provided by MGI

Process	Evidence Code	Pubs
involved_in neural crest cell development	ISO Inferred from Sequence Orthology more info
involved_in neural crest formation	ISO Inferred from Sequence Orthology more info
involved_in protein monoubiquitination	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of translation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of Cul3-RING ubiquitin ligase complex	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	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: SSEC 51; T-cell activation kelch repeat protein

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_001008785.5 → NP_001008785.2 kelch repeat and BTB domain-containing protein 8 isoform a

See identical proteins and their annotated locations for NP_001008785.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AK142080, BC088734, BF019958, CJ046115, DV653148

Consensus CDS

CCDS51856.1

UniProtKB/Swiss-Prot

Q3TJB2, Q3UQV5, Q5M7B2, Q8CH97

Related

ENSMUSP00000032107.8, ENSMUST00000032107.10

Conserved Domains (6) summary

smart00612
Location:335 → 386

Kelch; Kelch domain

PHA03098
Location:50 → 514

PHA03098; kelch-like protein; Provisional

sd00038
Location:328 → 374

Kelch; KELCH repeat [structural motif]

pfam00651
Location:39 → 144

BTB; BTB/POZ domain

pfam01344
Location:377 → 426

Kelch_1; Kelch motif

pfam07707
Location:153 → 250

BACK; BTB And C-terminal Kelch
NM_001102670.2 → NP_001096140.1 kelch repeat and BTB domain-containing protein 8 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform b, which is shorter at the N-terminus, compared to isoform a.

Source sequence(s)

AK142080, AK167507, BF019958, CJ046115

Consensus CDS

CCDS51857.1

UniProtKB/Swiss-Prot

Q3UQV5

Related

ENSMUSP00000113739.2, ENSMUST00000119582.3

Conserved Domains (5) summary

smart00612
Location:258 → 309

Kelch; Kelch domain

sd00038
Location:251 → 297

Kelch; KELCH repeat [structural motif]

pfam00651
Location:1 → 67

BTB; BTB/POZ domain

pfam01344
Location:300 → 349

Kelch_1; Kelch motif

pfam07707
Location:76 → 173

BACK; BTB And C-terminal Kelch