Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	91012
Gene name Gene Name - the full gene name approved by the HGNC.	Ceramide synthase 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CERS5
Synonyms (NCBI Gene) Gene synonyms aliases	LASS5, Trh4
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q13.12
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein that belongs to the TLC (TRAM, LAG1 and CLN8 homology domains) family of proteins. The encoded protein functions in the synthesis of ceramide, a lipid molecule that is involved in a several cellular signaling pathways. Alternat

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miRTarBase ID	miRNA	Experiments	Reference
MIRT042119	hsa-miR-484	CLASH	23622248
MIRT1963032	hsa-miR-3189-5p	CLIP-seq
MIRT1963033	hsa-miR-4707-5p	CLIP-seq
MIRT1963034	hsa-miR-4738-3p	CLIP-seq
MIRT1963035	hsa-miR-4758-3p	CLIP-seq
MIRT2502148	hsa-miR-101	CLIP-seq
MIRT2502149	hsa-miR-1245b-3p	CLIP-seq
MIRT2502150	hsa-miR-1303	CLIP-seq
MIRT2502151	hsa-miR-136	CLIP-seq
MIRT2502152	hsa-miR-299-3p	CLIP-seq
MIRT2502153	hsa-miR-3065-5p	CLIP-seq
MIRT2502154	hsa-miR-3125	CLIP-seq
MIRT2502155	hsa-miR-3133	CLIP-seq
MIRT2502156	hsa-miR-3199	CLIP-seq
MIRT2502157	hsa-miR-335	CLIP-seq
MIRT2502158	hsa-miR-34a	CLIP-seq
MIRT2502159	hsa-miR-34c-5p	CLIP-seq
MIRT2502160	hsa-miR-3609	CLIP-seq
MIRT2502161	hsa-miR-3612	CLIP-seq
MIRT2502162	hsa-miR-3613-3p	CLIP-seq
MIRT2502163	hsa-miR-3647-3p	CLIP-seq
MIRT2502164	hsa-miR-3916	CLIP-seq
MIRT2502165	hsa-miR-3928	CLIP-seq
MIRT2502166	hsa-miR-3942-3p	CLIP-seq
MIRT2502167	hsa-miR-3973	CLIP-seq
MIRT2502168	hsa-miR-3975	CLIP-seq
MIRT2502169	hsa-miR-3977	CLIP-seq
MIRT2502170	hsa-miR-4254	CLIP-seq
MIRT2502171	hsa-miR-4267	CLIP-seq
MIRT2502172	hsa-miR-4328	CLIP-seq
MIRT2502173	hsa-miR-4428	CLIP-seq
MIRT2502174	hsa-miR-4434	CLIP-seq
MIRT2502175	hsa-miR-4443	CLIP-seq
MIRT2502176	hsa-miR-449a	CLIP-seq
MIRT2502177	hsa-miR-449b	CLIP-seq
MIRT2502178	hsa-miR-4516	CLIP-seq
MIRT2502179	hsa-miR-4539	CLIP-seq
MIRT2502180	hsa-miR-4648	CLIP-seq
MIRT2502181	hsa-miR-4654	CLIP-seq
MIRT2502182	hsa-miR-4685-5p	CLIP-seq
MIRT2502183	hsa-miR-4698	CLIP-seq
MIRT2502184	hsa-miR-4724-5p	CLIP-seq
MIRT2502185	hsa-miR-4740-5p	CLIP-seq
MIRT2502186	hsa-miR-4769-5p	CLIP-seq
MIRT2502187	hsa-miR-490-3p	CLIP-seq
MIRT2502188	hsa-miR-495	CLIP-seq
MIRT2502189	hsa-miR-501-3p	CLIP-seq
MIRT2502190	hsa-miR-502-3p	CLIP-seq
MIRT2502191	hsa-miR-520g	CLIP-seq
MIRT2502192	hsa-miR-520h	CLIP-seq
MIRT2502193	hsa-miR-548ah	CLIP-seq
MIRT2502194	hsa-miR-548b-3p	CLIP-seq
MIRT2502195	hsa-miR-583	CLIP-seq
MIRT2502196	hsa-miR-604	CLIP-seq
MIRT2502197	hsa-miR-607	CLIP-seq
MIRT2502198	hsa-miR-619	CLIP-seq
MIRT2502199	hsa-miR-629	CLIP-seq
MIRT2502200	hsa-miR-647	CLIP-seq
MIRT2502201	hsa-miR-650	CLIP-seq
MIRT2502148	hsa-miR-101	CLIP-seq
MIRT2502149	hsa-miR-1245b-3p	CLIP-seq
MIRT2502150	hsa-miR-1303	CLIP-seq
MIRT2502151	hsa-miR-136	CLIP-seq
MIRT2502152	hsa-miR-299-3p	CLIP-seq
MIRT2502154	hsa-miR-3125	CLIP-seq
MIRT2502155	hsa-miR-3133	CLIP-seq
MIRT2502156	hsa-miR-3199	CLIP-seq
MIRT2502157	hsa-miR-335	CLIP-seq
MIRT2502158	hsa-miR-34a	CLIP-seq
MIRT2502159	hsa-miR-34c-5p	CLIP-seq
MIRT2502160	hsa-miR-3609	CLIP-seq
MIRT2502161	hsa-miR-3612	CLIP-seq
MIRT2502162	hsa-miR-3613-3p	CLIP-seq
MIRT2502163	hsa-miR-3647-3p	CLIP-seq
MIRT2502164	hsa-miR-3916	CLIP-seq
MIRT2502165	hsa-miR-3928	CLIP-seq
MIRT2502166	hsa-miR-3942-3p	CLIP-seq
MIRT2502167	hsa-miR-3973	CLIP-seq
MIRT2502168	hsa-miR-3975	CLIP-seq
MIRT2502169	hsa-miR-3977	CLIP-seq
MIRT2502170	hsa-miR-4254	CLIP-seq
MIRT2502171	hsa-miR-4267	CLIP-seq
MIRT2502172	hsa-miR-4328	CLIP-seq
MIRT2502175	hsa-miR-4443	CLIP-seq
MIRT2502176	hsa-miR-449a	CLIP-seq
MIRT2502177	hsa-miR-449b	CLIP-seq
MIRT2502179	hsa-miR-4539	CLIP-seq
MIRT2502180	hsa-miR-4648	CLIP-seq
MIRT2502181	hsa-miR-4654	CLIP-seq
MIRT2502182	hsa-miR-4685-5p	CLIP-seq
MIRT2502183	hsa-miR-4698	CLIP-seq
MIRT2502184	hsa-miR-4724-5p	CLIP-seq
MIRT2502185	hsa-miR-4740-5p	CLIP-seq
MIRT2502186	hsa-miR-4769-5p	CLIP-seq
MIRT2502187	hsa-miR-490-3p	CLIP-seq
MIRT2502189	hsa-miR-501-3p	CLIP-seq
MIRT2502190	hsa-miR-502-3p	CLIP-seq
MIRT2502191	hsa-miR-520g	CLIP-seq
MIRT2502192	hsa-miR-520h	CLIP-seq
MIRT2502193	hsa-miR-548ah	CLIP-seq
MIRT2502194	hsa-miR-548b-3p	CLIP-seq
MIRT2502195	hsa-miR-583	CLIP-seq
MIRT2502196	hsa-miR-604	CLIP-seq
MIRT2502197	hsa-miR-607	CLIP-seq
MIRT2502198	hsa-miR-619	CLIP-seq
MIRT2502199	hsa-miR-629	CLIP-seq
MIRT2502200	hsa-miR-647	CLIP-seq
MIRT2502201	hsa-miR-650	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0014003	Process	Oligodendrocyte development	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	TAS
GO:0046513	Process	Ceramide biosynthetic process	IBA
GO:0046513	Process	Ceramide biosynthetic process	IDA	16951403, 29632068
GO:0046513	Process	Ceramide biosynthetic process	IEA
GO:0050291	Function	Sphingosine N-acyltransferase activity	IBA
GO:0050291	Function	Sphingosine N-acyltransferase activity	IDA	16951403, 29632068
GO:0050291	Function	Sphingosine N-acyltransferase activity	IEA
GO:0050291	Function	Sphingosine N-acyltransferase activity	TAS

MIM	HGNC	e!Ensembl
615335	23749	ENSG00000139624

Protein

UniProt ID

Q8N5B7

Protein name

Ceramide synthase 5 (CerS5) (LAG1 longevity assurance homolog 5) (Sphingoid base N-palmitoyltransferase CERS5) (EC 2.3.1.291) (Sphingosine N-acyltransferase CERS5) (EC 2.3.1.24)

Protein function

Ceramide synthase that catalyzes the transfer of the acyl chain from acyl-CoA to a sphingoid base, with high selectivity toward palmitoyl-CoA (hexadecanoyl-CoA; C16:0-CoA) (PubMed:16951403, PubMed:18541923, PubMed:22144673, PubMed:22661289, PubM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	83 → 135	Homeodomain	Domain
PF03798	TRAM_LAG1_CLN8	140 → 333	TLC domain	Domain

Sequence

MATAAQGPLSLLWGWLWSERFWLPENVSWADLEGPADGYGYPRGRHILSVFPLAAGIFFV
RLLFERFIAKPCALCIGIEDSGPYQAQPNAILEKVFISITKYPDKKRLEGLSKQLDWNVR
KIQCWFRHRRNQDKPPTLTKFCESMWRFTFYLCIFCYGIRFLWSSPWFWDIRQCWHNYPF
QPLSSGLYHYYIMELAFYWSLMFSQFTDIKRKDFLIMFVHHLVTIGLISFSYINNMVRVG
TLIMCLHDVSDFLLEAAKLANYAKYQRLCDTLFVIFSAVFMVTRLGIYPFWILNTTLFES
WEIIGPYASWWLLNGLLLTLQLLHVIWSYLIARIALKALIRGKVSKDDRSDVESSSEEED
VTTCTKSPCDSSSSNGANRVNGHMGGSYWAEE

Sequence length

392

Interactions

View interactions

	KEGG		Reactome
	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway		Sphingolipid de novo biosynthesis

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Hypertension	Hypertension (confirmatory factor analysis Factor 12), High blood pressure / hypertension, Hypertension	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Coronary Artery Disease	Stimulate	37298446
Heart Valve Diseases	Associate	37298446
Hypertension	Associate	37175507
Lupus Erythematosus Systemic	Associate	30777133
Neoplasms	Associate	38244710
Pulmonary Arterial Hypertension	Associate	37176017
Stomach Neoplasms	Associate	38244710

CERS5 (ceramide synthase 5)