CERS1 ceramide synthase 1 [Homo sapiens] - Gene

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Summary

Official Symbol: CERS1provided by HGNC
Official Full Name: ceramide synthase 1provided by HGNC
Primary source: HGNC:14253
See related: Ensembl:ENSG00000223802; HPRD:12114; MIM:606919
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: LAG1; UOG1; LASS1; MGC90349
Summary: This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site that is cleaved to produce a mature protein containing seven conserved cysteine residues. Members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in yeast suggest that the encoded protein is involved in aging. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 19p12

Sequence :: Chromosome: 19; NC_000019.9 (18979361..19006953, complement)

See CERS1 in Epigenomics, MapViewer

Chromosome 19 - NC_000019.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The variation in LASS1 is functional, causing enhanced expression of the gene, and it contributes to healthy aging and greater survival in the tenth decade of life.
Title: HRAS1 and LASS1 with APOE are associated with human longevity and healthy aging.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: HRAS1 and LASS1 with APOE are associated with human longevity and healthy aging.
The study suggests that diverse stresses initiate responses through different signaling pathways, which ultimately converge to regulate CerS1 localization.
Title: Stress-induced ER to Golgi translocation of ceramide synthase 1 is dependent on proteasomal processing.
regulates N-stearoyl-sphinganine (C18-(dihydro)ceramide) synthesis in a fumonisin B1-independent manner in mammalian cel
Title: Upstream of growth and differentiation factor 1 (uog1), a mammalian homolog of the yeast longevity assurance gene 1 (LAG1), regulates N-stearoyl-sphinganine (C18-(dihydro)ceramide) synthesis in a fumonisin B1-independent manner in mammalian cells.
LAG1 and C18-ceramide have roles in the regulation of growth of HNSCC
Title: Defects in cell growth regulation by C18:0-ceramide and longevity assurance gene 1 in human head and neck squamous cell carcinomas.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:115941	BioGRID:111583	MAPK6		BioGRID	PubMed	Two-hybrid
BioGRID:115941	BioGRID:113164	UBC		BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western

Function	Evidence Code	Pubs
molecular_function	ND No biological Data available more info
sphingosine N-acyltransferase activity	IEA Inferred from Electronic Annotation more info
sphingosine N-acyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
brain development	IEA Inferred from Electronic Annotation more info
ceramide biosynthetic process	IEA Inferred from Electronic Annotation more info
ceramide biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
lipid biosynthetic process	IEA Inferred from Electronic Annotation more info
small molecule metabolic process	TAS Traceable Author Statement more info
sphingolipid biosynthetic process	TAS Traceable Author Statement more info
sphingolipid metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
Golgi apparatus	IEA Inferred from Electronic Annotation more info
Golgi membrane	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum membrane	TAS Traceable Author Statement more info
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info
microsome	IEA Inferred from Electronic Annotation more info
microsome	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Preferred Names: ceramide synthase 1

Names: ceramide synthase 1; protein UOG-1; upstream of GDF1; LAG1 homolog, ceramide synthase 1; LAG1 longevity assurance homolog 1; longevity assurance gene 1 protein homolog 1; longevity assurance (LAG1, S. cerevisiae) homolog 1

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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.

mRNA and Protein(s)

NM_021267.3 → NP_067090.1 ceramide synthase 1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) is a bicistronic transcript that includes CERS1 and GDF1. Variant 1 encodes the longer isoform (1) of CERS1.

Source sequence(s)

AC003972, AC005197, AL120193, M62302

Consensus CDS

CCDS46020.1

UniProtKB/Swiss-Prot

P27544

Related

ENSP00000402697, ENST00000427170

Conserved Domains (1) summary

cl02759
Location:98 – 279
Blast Score: 248

TRAM_LAG1_CLN8; TLC domain
NM_198207.2 → NP_937850.1 ceramide synthase 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) is a monocistronic CERS1 transcript. Variant 2 uses an alternate splice pattern in the 3' end of the coding region, compared to variant 1. Variant 2 encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC005197, AL120193, BC032615

Consensus CDS

CCDS46021.1

UniProtKB/Swiss-Prot

P27544

Related

ENSP00000389044, ENST00000429504

Conserved Domains (1) summary

cl02759
Location:98 – 279
Blast Score: 243

TRAM_LAG1_CLN8; TLC domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000019.9 Reference GRCh37.p5 Primary Assembly

Range

18979361..19006953, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000151.1 Alternate HuRef

Range

18543712..18571613, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC005197.1	AAC24611.1
genomic	AF105005.1	AAD16892.1
genomic	AF105009.1	AAD16892.1
genomic	CH471106.1	EAW84745.1
		EAW84746.1
mRNA	AL120193.1	None
mRNA	BC032615.1	None
mRNA	BC084582.1	AAH84582.1
mRNA	BF343384.1	None
mRNA	BM925585.1	None
mRNA	BX453803.1	None
mRNA	M62302.1	AAA58500.1