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FLASH GENE

Symbol

CERKL

contributors: mct/shn - updated : 13-07-2016

HGNC name	ceramide kinase-like
HGNC id	21699

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	RP26 retinitis pigmentosa 26
Location	2q31.3      Physical location : 182.401.401 - 182.521.834
Synonym name	ceramide kinase-like protein
	retinitis pigmentosa 26 (autosomal recessive)

DNA

TYPE	functioning gene
STRUCTURE	120.43 kb     13 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D2S384 - D2S2310 - CERKL - D2S364 - D2S350 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_201548 (transcript variant 1) 13 splicing 3226 NP_963842 - 532 - - NM_001030313 (transcript variant 4) 11 splicing 3019 NP_001025484 - 463 - - NR_027689 (transcript variant 5 12 splicing 3030 NM_001160277 (transcript variant 7) 13 splicing 3172 NP_001153749 - 514 - - NM_001030312 (transcript variant 3) 9 splicing 2887 NP_001025483 - 419 - - NM_001030311 (transcript variant 2) 14 splicing 3304 NP_001025482 - 558 - - NR_027690 (transcript variant 6) 13 splicing 3162

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine pancreas       highly Nervous brain       moderately Reproductive female system placenta     moderately Respiratory lung       highly Urinary kidney       highly Visual eye retina     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial sensory visual ganglion cell layer

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

Text	brain, lung, liver, kidney

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	nuclear localization signal
	one DAGKc (Diacylglycerol kinase) catalyticdomain
	ceramide kinase-like domains

HOMOLOGY

interspecies	ortholog to Cerkl, Rattus norvegicus
	ortholog to Cerkl, Mus musculus
	ortholog to CERKL, Pan troglodytes

Homologene

FAMILY

ceramide kinase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleolus
text	many cell compartments including specific association with nucleoli

basic FUNCTION	converting the sphingolipid metabolite ceramide into ceramide-1-phosphate, both key mediators of cellular apoptosis and survival
	playing an essential role in the viability of neuronal cells
	protects cells from apoptosis induced by oxidative stress (Tuson et al, 2009)
	antioxidant protein which is critical to photoreceptor survival, its deficiency causes retinal degeneration as a result of oxidative damage

CELLULAR PROCESS	cell life, antiapoptosis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

sensory transduction/vision

a component

INTERACTION

DNA

RNA

small molecule

protein

VHL is an important regulator of CERKL, and ubiquitinates CERKL for proteasomal degradation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

RP26

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS