CERK ceramide kinase [Homo sapiens (human)] - Gene

Summary

Official Symbol: CERKprovided by HGNC
Official Full Name: ceramide kinaseprovided by HGNC
Primary source: HGNC:HGNC:19256
See related: Ensembl:ENSG00000100422 MIM:610307; AllianceGenome:HGNC:19256
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LK4; hCERK; dA59H18.2; dA59H18.3
Summary: CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM, Mar 2008]
Expression: Ubiquitous expression in small intestine (RPKM 16.4), duodenum (RPKM 15.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.31

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (46684410..46738252, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (47172367..47226215, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (47080307..47134149, complement)

Chromosome 22 - NC_000022.11 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ceramide kinase-mediated C1P metabolism attenuates acute liver injury by inhibiting the interaction between KEAP1 and NRF2.
Title: Ceramide kinase-mediated C1P metabolism attenuates acute liver injury by inhibiting the interaction between KEAP1 and NRF2.
Ceramide kinase confers tamoxifen resistance in estrogen receptor-positive breast cancer by altering sphingolipid metabolism.
Title: Ceramide kinase confers tamoxifen resistance in estrogen receptor-positive breast cancer by altering sphingolipid metabolism.
Clinical relevance of CERK and SPHK1 in breast cancer and their association with metastasis and drug resistance.
Title: Clinical relevance of CERK and SPHK1 in breast cancer and their association with metastasis and drug resistance.
Ceramide kinase regulates TNF-alpha-induced immune responses in human monocytic cells.
Title: Ceramide kinase regulates TNF-α-induced immune responses in human monocytic cells.
MicroRNA-34a causes ceramide accumulation and effects insulin signaling pathway by targeting ceramide kinase (CERK) in aging skeletal muscle.
Title: MicroRNA-34a causes ceramide accumulation and effects insulin signaling pathway by targeting ceramide kinase (CERK) in aging skeletal muscle.
Ceramide Kinase Is Upregulated in Metastatic Breast Cancer Cells and Contributes to Migration and Invasion by Activation of PI 3-Kinase and Akt.
Title: Ceramide Kinase Is Upregulated in Metastatic Breast Cancer Cells and Contributes to Migration and Invasion by Activation of PI 3-Kinase and Akt.
Inhibitory effects of ceramide kinase on Rac1 activation, lamellipodium formation, cell migration, and metastasis of A549 lung cancer cells.
Title: Inhibitory effects of ceramide kinase on Rac1 activation, lamellipodium formation, cell migration, and metastasis of A549 lung cancer cells.
an acid sphingomyelinase ceramide kinase pathway in the regulation of the chemokine CCL5
Title: Identification of an acid sphingomyelinase ceramide kinase pathway in the regulation of the chemokine CCL5.
Our study expands the genotypic spectra of CERKL variants, providing insights into the relevant pathogenesis of RP/CRD
Title: Novel CERKL variant in consanguineous Jordanian pedigrees with inherited retinal dystrophies.
results suggest that intracellular ceramide kinase is required for the migration of bone marrow-derived mesenchymal stem cells, and the roles of the intrinsic ceramide kinase in the migration are associated with N-cadherin regulation
Title: Ceramide kinase regulates the migration of bone marrow-derived mesenchymal stem cells.

Submit: New GeneRIF Correction See all GeneRIFs (31)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH119610 (e-PCR)
- UniSTS:133925

G54699 (e-PCR)
- UniSTS:117801

G59458 (e-PCR)
- UniSTS:136765

A007D26 (e-PCR)
- UniSTS:48960

NoName (e-PCR)
- UniSTS:489934

Clone Names

FLJ21430, FLJ23239, KIAA1646, MGC131878, DKFZp434E0211

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ceramide kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ceramide kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables ceramide kinase activity	IEA Inferred from Electronic Annotation more info
enables ceramide kinase activity	TAS Traceable Author Statement more info
enables magnesium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ceramide metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ceramide metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in ceramide metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in glycosphingolipid biosynthetic process	TAS Traceable Author Statement more info
involved_in phosphorylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ceramide kinase

Names: acylsphingosine kinase; lipid kinase 4; lipid kinase LK4

NP_073603.2

EC 2.7.1.138

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.