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KBTBD13 kelch repeat and BTB domain containing 13 [ Homo sapiens (human) ]

Gene ID: 390594, updated on 5-Aug-2018

Summary

Official Symbol
KBTBD13provided by HGNC
Official Full Name
kelch repeat and BTB domain containing 13provided by HGNC
Primary source
HGNC:HGNC:37227
See related
Ensembl:ENSG00000234438 MIM:613727; Vega:OTTHUMG00000172424
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NEM6; HCG1645727
Summary
The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010]
Orthologs

Genomic context

See KBTBD13 in Genome Data Viewer
Location:
15q22.31
Exon count:
1
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (65076816..65079938)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (65369154..65372276)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene mitochondrial methionyl-tRNA formyltransferase Neighboring gene transmembrane protein 126A pseudogene Neighboring gene solute carrier family 51 beta subunit Neighboring gene RAS like family 12 Neighboring gene ubiquitin associated protein 1 like Neighboring gene programmed cell death 7

Genomic regions, transcripts, and products

Bibliography

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
    Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
kelch repeat and BTB domain-containing protein 13
Names
kelch repeat and BTB (POZ) domain containing 13
nemaline myopathy type 6

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_021411.1 RefSeqGene

    Range
    5001..8123
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_682

mRNA and Protein(s)

  1. NM_001101362.2NP_001094832.1  kelch repeat and BTB domain-containing protein 13

    See identical proteins and their annotated locations for NP_001094832.1

    Status: REVIEWED

    Source sequence(s)
    AC013553, DB331058
    Consensus CDS
    CCDS45281.1
    UniProtKB/Swiss-Prot
    C9JR72
    Related
    ENSP00000388723.2, OTTHUMP00000255396, ENST00000432196.3, OTTHUMT00000418468
    Conserved Domains (4) summary
    smart00225
    Location:13101
    BTB; Broad-Complex, Tramtrack and Bric a brac
    sd00038
    Location:202244
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:247292
    Kelch_1; Kelch motif
    cl02518
    Location:7101
    BTB; BTB/POZ domain

RefSeqs of Annotated Genomes: Homo sapiens 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 GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    65076816..65079938
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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