CERS5 ceramide synthase 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CERS5provided by HGNC
Official Full Name: ceramide synthase 5provided by HGNC
Primary source: HGNC:HGNC:23749
See related: Ensembl:ENSG00000139624 MIM:615335; AllianceGenome:HGNC:23749
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: Trh4; LASS5
Summary: 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. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Expression: Ubiquitous expression in endometrium (RPKM 6.0), placenta (RPKM 5.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.12

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (50129289..50167369, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (50092380..50130460, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (50523072..50561152, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Lack of ceramide synthase 5 protects retinal ganglion cells from ocular hypertensive injury.
Title: Lack of ceramide synthase 5 protects retinal ganglion cells from ocular hypertensive injury.
Identification of CERS5 as a molecular biomarker in pan-cancer through multiple omics integrative analysis.
Title: Identification of CERS5 as a molecular biomarker in pan-cancer through multiple omics integrative analysis.
in p53(wt) colon cancer cells chemosensitivity against oxaliplatin or 5-fluorouracil could be enhanced by downregulation of CerS5 expression leading to reduced autophagy and mitochondrial respiration.
Title: Chemosensitivity of human colon cancer cells is influenced by a p53-dependent enhancement of ceramide synthase 5 and induction of autophagy.
LASS5 interacts with SDHB and synergistically represses p53 and p21 activity.
Title: LASS5 Interacts with SDHB and Synergistically Represses p53 and p21 Activity.
Studied the role of ceramide synthase 5 (LASS5 or CERS5) gene in atherosclerosis. Downregulation of LASS5 by siRNA was found to attenuate ceramide production and increase expression of some AMPK target genes in HUVEC. Found that LASS5 was involved in negative regulation of atherosclerosis-related genes, such as AMPK-alpha.
Title: [Investigating the role of ceramide metabolism-associated CERS5 (LASS5) gene in atherosclerosis pathogenesis in endothelial cells].
These results suggest that the phosphorylation of ceramide synthases may be a key regulatory point in the control of the distribution and levels of sphingolipids of various acyl-chain lengths.
Title: Enzyme Activities of the Ceramide Synthases CERS2-6 Are Regulated by Phosphorylation in the C-terminal Region.
mRNA level of CerS5 is higher in cancerous cell lines and decreases following the induction of apoptosis.
Title: Linking the ceramide synthases (CerSs) 4 and 5 with apoptosis, endometrial and colon cancers.
Overexpression of CerS5 increased apoptosis in HeLa cells.
Title: Ceramide synthases 2, 5, and 6 confer distinct roles in radiation-induced apoptosis in HeLa cells.
Down-regulation of either acid sphingomyelinase or LASS 5-attenuated ceramide accumulation and H/R-induced Bax translocation to mitochondria.
Title: Ceramide generated by sphingomyelin hydrolysis and the salvage pathway is involved in hypoxia/reoxygenation-induced Bax redistribution to mitochondria in NT-2 cells.
accumulation of C(16)-ceramide in mitochondria formed from the protein kinase C-dependent salvage pathway results at least in part from the action of longevity-assurance homologue 5, and the generated ceramide modulates the p38 cascade via PP1
Title: Protein kinase C-induced activation of a ceramide/protein phosphatase 1 pathway leading to dephosphorylation of p38 MAPK.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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 variants in ClinVar

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

D12S1566 (e-PCR)
- UniSTS:154150

NIB1689 (e-PCR)
- UniSTS:17197

D12S1200E (e-PCR)
- UniSTS:15990

SHGC-57795 (e-PCR)
- UniSTS:19627

A003A47 (e-PCR)
- UniSTS:5553

RH44718 (e-PCR)
- UniSTS:41953

D12S1425 (e-PCR)
- UniSTS:60645

MARC_16364-16365:1017765966:1 (e-PCR)
- UniSTS:268011

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables sphingosine N-acyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables sphingosine N-acyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables sphingosine N-acyltransferase activity	TAS Traceable Author Statement more info

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

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ceramide synthase 5

Names: LAG1 homolog, ceramide synthase 5; LAG1 longevity assurance homolog 5; TRAM homolog 4; sphingoid base N-palmitoyltransferase CERS5; sphingosine N-acyltransferase CERS5

NP_001268660.1

EC 2.3.1.24

EC 2.3.1.291

NP_001317998.1

EC 2.3.1.24

EC 2.3.1.291

NP_001317999.1

EC 2.3.1.24

EC 2.3.1.291

NP_001318000.1

EC 2.3.1.24

EC 2.3.1.291

NP_001318001.1

EC 2.3.1.24

EC 2.3.1.291

NP_001318002.1

EC 2.3.1.24

EC 2.3.1.291

NP_671723.1

EC 2.3.1.24

EC 2.3.1.291

XP_005269277.1

EC 2.3.1.24

EC 2.3.1.291

XP_016875693.1

EC 2.3.1.24

EC 2.3.1.291

XP_047285821.1

EC 2.3.1.24

EC 2.3.1.291

XP_047285822.1

EC 2.3.1.24

EC 2.3.1.291

XP_047285823.1

EC 2.3.1.24

EC 2.3.1.291

XP_054229773.1

EC 2.3.1.24

EC 2.3.1.291

XP_054229774.1

EC 2.3.1.24

EC 2.3.1.291

XP_054229775.1

EC 2.3.1.24

EC 2.3.1.291

XP_054229776.1

EC 2.3.1.24

EC 2.3.1.291

XP_054229777.1

EC 2.3.1.24

EC 2.3.1.291

XP_054229778.1

EC 2.3.1.24

EC 2.3.1.291

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.

mRNA and Protein(s)

NM_001281731.2 → NP_001268660.1 ceramide synthase 5 isoform 2

See identical proteins and their annotated locations for NP_001268660.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate exon in the 5' region and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AC074032, AK027087, AK300937, BC014637, DA230084, HY016808

Consensus CDS

CCDS61120.1

UniProtKB/Swiss-Prot

Q8N5B7

Related

ENSP00000389050.2, ENST00000422340.6

Conserved Domains (2) summary

smart00724
Location:81 → 281

TLC; TRAM, LAG1 and CLN8 homology domains

cd00086
Location:31 → 78

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
NM_001331069.3 → NP_001317998.1 ceramide synthase 5 isoform 3

Status: REVIEWED

Source sequence(s)

AC074032, AC139016
NM_001331070.3 → NP_001317999.1 ceramide synthase 5 isoform 4

Status: REVIEWED

Source sequence(s)

AC074032, AC139016
NM_001331071.3 → NP_001318000.1 ceramide synthase 5 isoform 5

Status: REVIEWED

Source sequence(s)

AC074032, AC139016

Conserved Domains (2) summary

smart00724
Location:139 → 339

TLC; TRAM, LAG1 and CLN8 homology domains

cd00086
Location:89 → 136

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
NM_001331072.3 → NP_001318001.1 ceramide synthase 5 isoform 6

Status: REVIEWED

Source sequence(s)

AC074032, AC139016
NM_001331073.3 → NP_001318002.1 ceramide synthase 5 isoform 7

Status: REVIEWED

Source sequence(s)

AC074032, AC139016
NM_147190.5 → NP_671723.1 ceramide synthase 5 isoform 1

See identical proteins and their annotated locations for NP_671723.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC074032, AC139016, AK026014, AK300937

Consensus CDS

CCDS8801.1

UniProtKB/Swiss-Prot

B4DV54, Q8N5B7

Related

ENSP00000325485.6, ENST00000317551.12

Conserved Domains (2) summary

smart00724
Location:139 → 339

TLC; TRAM, LAG1 and CLN8 homology domains

cd00086
Location:89 → 136

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

RNA

NR_104035.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks one internal exon and contains one alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC074032, AK027087, BC033558, DA230084, HY016808

Related

ENST00000380189.8
NR_138532.3 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC074032, AC139016
NR_138533.3 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC074032, AC139016
NR_138534.3 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC074032, AC139016
NR_138535.3 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC074032, AC139016
NR_138536.3 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC074032, AC139016

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

50129289..50167369 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005269220.3 → XP_005269277.1 ceramide synthase 5 isoform X1

Conserved Domains (2) summary

cd00086
Location:89 → 136

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam03798
Location:140 → 333

TRAM_LAG1_CLN8; TLC domain
XM_047429866.1 → XP_047285822.1 ceramide synthase 5 isoform X3
XM_047429865.1 → XP_047285821.1 ceramide synthase 5 isoform X2
XM_047429867.1 → XP_047285823.1 ceramide synthase 5 isoform X5
XM_017020204.3 → XP_016875693.1 ceramide synthase 5 isoform X4

UniProtKB/TrEMBL

H0YI10

Related

ENSP00000448295.2, ENST00000547800.2