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

Gene ID: 243574, updated on 26-Sep-2022

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
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Genomic context

See Kbtbd8 in Genome Data Viewer
Location:
6; 6 D2
Exon count:
4
Annotation release Status Assembly Chr Location
109 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_000072.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 26501 Neighboring gene kelch repeat and BTB (POZ) domain containing 8, opposite strand Neighboring gene suppressor of Ty 4 homolog 1 pseudogene Neighboring gene eukaryotic translation elongation factor 1 gamma pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC91215

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

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)

  1. NM_001008785.5NP_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
    Q3UQV5, Q8CH97
    UniProtKB/TrEMBL
    A0A8C6I5Z1
    Related
    ENSMUSP00000032107.8, ENSMUST00000032107.10
    Conserved Domains (6) summary
    smart00612
    Location:335386
    Kelch; Kelch domain
    PHA03098
    Location:50514
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:328374
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:39144
    BTB; BTB/POZ domain
    pfam01344
    Location:377426
    Kelch_1; Kelch motif
    pfam07707
    Location:153250
    BACK; BTB And C-terminal Kelch
  2. NM_001102670.2NP_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:258309
    Kelch; Kelch domain
    sd00038
    Location:251297
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:167
    BTB; BTB/POZ domain
    pfam01344
    Location:300349
    Kelch_1; Kelch motif
    pfam07707
    Location:76173
    BACK; BTB And C-terminal Kelch

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000072.7 Reference GRCm39 C57BL/6J

    Range
    95094861..95106774
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)