Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

KBTBD13

contributors: mct - updated : 15-03-2016

HGNC name	kelch repeat and BTB (POZ) domain containing 13
HGNC id	37227

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NEM6 nemaline myopathy 6
Location	15q22.31      Physical location : 65.369.153 - 65.372.276
Synonym name	kelch repeat and BTB domain-containing protein 13
Synonym symbol(s)	hCG_1645727, HCG1645727, NEM6

DNA

TYPE	functioning gene
STRUCTURE	3.12 kb     1 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001101362 1 - 3123 NP_001094832 49 458 - 2010 21109227

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum cardiac     Homo sapiens Muscular striatum skeletal     Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal 68-AA BTB/POZ domain (BTB for Bric-a-brac, Tramtrack, Broad-complex; and POZ for Poxvirus and Zinc-finger)
	a central alpha-helical linker region
	C-terminal five Kelch repeats domain

HOMOLOGY

Homologene

FAMILY

BTB/Kelch family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton
text	is a cytoplasmic protein that co-localizes with ubiquitin

basic FUNCTION	likely to have a significant though as-yet-unknown role in muscle structure and/or function
	participates in the formation of a CUL3 based RING ubiquitin ligase (CUL3-RL) capable of ubiquitin conjugation
	is a putative adaptor for CUL3-RL and raise the possible involvement of the ubiquitin–proteasome machinery in the pathogenesis of NEM

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

is able to form a complex with CUL3 and RBX1 to reconstitute a functional ubiquitin ligase capable of conjugating ubiquitin onto KBTBD13

INTERACTION

DNA

RNA

small molecule

protein

interacts with Cullin 3 (CUL3) and the BTB domain mediates this interaction

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NEM6

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS