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Protein

Ceramide synthase 5

Gene

CERS5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

Dihydroceramide synthase. Catalyzes the acylation of sphingosine to form dihydroceramide, with high selectivity toward palmitoyl-CoA as acyl donor compared to stearoyl-CoA. Inhibited by fumonisin B1 (By similarity).By similarity

Catalytic activityi

Acyl-CoA + sphingosine = CoA + N-acylsphingosine.

Pathwayi: sphingolipid metabolism

This protein is involved in the pathway sphingolipid metabolism, which is part of Lipid metabolism.
View all proteins of this organism that are known to be involved in the pathway sphingolipid metabolism and in Lipid metabolism.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi75 – 136HomeoboxPROSITE-ProRule annotationAdd BLAST62

GO - Molecular functioni

  • DNA binding Source: UniProtKB-KW
  • sphingosine N-acyltransferase activity Source: HGNC

GO - Biological processi

  • ceramide biosynthetic process Source: HGNC
  • sphingolipid biosynthetic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Biological processi

Lipid biosynthesis, Lipid metabolism, Sphingolipid metabolism

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000139624-MONOMER.
BRENDAi2.3.1.24. 2681.
ReactomeiR-HSA-1660661. Sphingolipid de novo biosynthesis.
UniPathwayiUPA00222.

Chemistry databases

SwissLipidsiSLP:000000261.

Names & Taxonomyi

Protein namesi
Recommended name:
Ceramide synthase 5 (EC:2.3.1.24)
Short name:
CerS5
Alternative name(s):
LAG1 longevity assurance homolog 5
Gene namesi
Name:CERS5
Synonyms:LASS5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:23749. CERS5.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 46LumenalSequence analysisAdd BLAST46
Transmembranei47 – 67HelicalSequence analysisAdd BLAST21
Topological domaini68 – 147CytoplasmicSequence analysisAdd BLAST80
Transmembranei148 – 168HelicalSequence analysisAdd BLAST21
Topological domaini169 – 182LumenalSequence analysisAdd BLAST14
Transmembranei183 – 203HelicalSequence analysisAdd BLAST21
Topological domaini204 – 213CytoplasmicSequence analysis10
Transmembranei214 – 234HelicalSequence analysisAdd BLAST21
Topological domaini235 – 271LumenalSequence analysisAdd BLAST37
Transmembranei272 – 292HelicalSequence analysisAdd BLAST21
Topological domaini293 – 310CytoplasmicSequence analysisAdd BLAST18
Transmembranei311 – 331HelicalSequence analysisAdd BLAST21
Topological domaini332 – 392LumenalSequence analysisAdd BLAST61

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi91012.
OpenTargetsiENSG00000139624.
PharmGKBiPA134882694.

Polymorphism and mutation databases

BioMutaiCERS5.
DMDMi51316484.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001855141 – 392Ceramide synthase 5Add BLAST392

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi26N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ8N5B7.
MaxQBiQ8N5B7.
PaxDbiQ8N5B7.
PeptideAtlasiQ8N5B7.
PRIDEiQ8N5B7.

PTM databases

iPTMnetiQ8N5B7.
PhosphoSitePlusiQ8N5B7.
SwissPalmiQ8N5B7.

Expressioni

Gene expression databases

BgeeiENSG00000139624.
CleanExiHS_LASS5.
ExpressionAtlasiQ8N5B7. baseline and differential.
GenevisibleiQ8N5B7. HS.

Organism-specific databases

HPAiHPA026589.

Interactioni

Protein-protein interaction databases

BioGridi124788. 8 interactors.
STRINGi9606.ENSP00000325485.

Structurei

3D structure databases

ProteinModelPortaliQ8N5B7.
SMRiQ8N5B7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini139 – 340TLCPROSITE-ProRule annotationAdd BLAST202

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation
Contains 1 TLC (TRAM/LAG1/CLN8) domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1607. Eukaryota.
COG5058. LUCA.
GeneTreeiENSGT00550000074401.
HOGENOMiHOG000231977.
HOVERGENiHBG052310.
InParanoidiQ8N5B7.
KOiK04710.
OMAiRGKVCND.
OrthoDBiEOG091G0BWM.
PhylomeDBiQ8N5B7.
TreeFamiTF314319.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR016439. Lag1/Lac1.
IPR006634. TLC-dom.
[Graphical view]
PANTHERiPTHR12560. PTHR12560. 1 hit.
PfamiPF00046. Homeobox. 1 hit.
PF03798. TRAM_LAG1_CLN8. 1 hit.
[Graphical view]
PIRSFiPIRSF005225. LAG1_LAC1. 1 hit.
SMARTiSM00724. TLC. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS50071. HOMEOBOX_2. 1 hit.
PS50922. TLC. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N5B7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MATAAQGPLS LLWGWLWSER FWLPENVSWA DLEGPADGYG YPRGRHILSV
60 70 80 90 100
FPLAAGIFFV RLLFERFIAK PCALCIGIED SGPYQAQPNA ILEKVFISIT
110 120 130 140 150
KYPDKKRLEG LSKQLDWNVR KIQCWFRHRR NQDKPPTLTK FCESMWRFTF
160 170 180 190 200
YLCIFCYGIR FLWSSPWFWD IRQCWHNYPF QPLSSGLYHY YIMELAFYWS
210 220 230 240 250
LMFSQFTDIK RKDFLIMFVH HLVTIGLISF SYINNMVRVG TLIMCLHDVS
260 270 280 290 300
DFLLEAAKLA NYAKYQRLCD TLFVIFSAVF MVTRLGIYPF WILNTTLFES
310 320 330 340 350
WEIIGPYASW WLLNGLLLTL QLLHVIWSYL IARIALKALI RGKVSKDDRS
360 370 380 390
DVESSSEEED VTTCTKSPCD SSSSNGANRV NGHMGGSYWA EE
Length:392
Mass (Da):45,752
Last modified:October 1, 2002 - v1
Checksum:iE95658B20CE114B5
GO
Isoform 2 (identifier: Q8N5B7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-65: MATAAQGPLSLLWGWLWSERFWLPENVSWADLEGPADGYGYPRGRHILSVFPLAAGIFFVRLLFE → MMKPRPK

Note: No experimental confirmation available.
Show »
Length:334
Mass (Da):39,259
Checksum:i6B5BF2BE15719766
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01955875C → R.Corresponds to variant rs7302981dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0545721 – 65MATAA…RLLFE → MMKPRPK in isoform 2. 1 PublicationAdd BLAST65

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK300937 mRNA. Translation: BAG62566.1.
AC074032 Genomic DNA. No translation available.
AC139016 Genomic DNA. No translation available.
CH471111 Genomic DNA. Translation: EAW58133.1.
BC032565 mRNA. Translation: AAH32565.1.
CCDSiCCDS61120.1. [Q8N5B7-2]
CCDS8801.1. [Q8N5B7-1]
RefSeqiNP_001268660.1. NM_001281731.1. [Q8N5B7-2]
NP_671723.1. NM_147190.3. [Q8N5B7-1]
UniGeneiHs.270525.

Genome annotation databases

EnsembliENST00000317551; ENSP00000325485; ENSG00000139624. [Q8N5B7-1]
ENST00000422340; ENSP00000389050; ENSG00000139624. [Q8N5B7-2]
GeneIDi91012.
KEGGihsa:91012.
UCSCiuc001rwd.6. human. [Q8N5B7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK300937 mRNA. Translation: BAG62566.1.
AC074032 Genomic DNA. No translation available.
AC139016 Genomic DNA. No translation available.
CH471111 Genomic DNA. Translation: EAW58133.1.
BC032565 mRNA. Translation: AAH32565.1.
CCDSiCCDS61120.1. [Q8N5B7-2]
CCDS8801.1. [Q8N5B7-1]
RefSeqiNP_001268660.1. NM_001281731.1. [Q8N5B7-2]
NP_671723.1. NM_147190.3. [Q8N5B7-1]
UniGeneiHs.270525.

3D structure databases

ProteinModelPortaliQ8N5B7.
SMRiQ8N5B7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124788. 8 interactors.
STRINGi9606.ENSP00000325485.

Chemistry databases

SwissLipidsiSLP:000000261.

PTM databases

iPTMnetiQ8N5B7.
PhosphoSitePlusiQ8N5B7.
SwissPalmiQ8N5B7.

Polymorphism and mutation databases

BioMutaiCERS5.
DMDMi51316484.

Proteomic databases

EPDiQ8N5B7.
MaxQBiQ8N5B7.
PaxDbiQ8N5B7.
PeptideAtlasiQ8N5B7.
PRIDEiQ8N5B7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317551; ENSP00000325485; ENSG00000139624. [Q8N5B7-1]
ENST00000422340; ENSP00000389050; ENSG00000139624. [Q8N5B7-2]
GeneIDi91012.
KEGGihsa:91012.
UCSCiuc001rwd.6. human. [Q8N5B7-1]

Organism-specific databases

CTDi91012.
DisGeNETi91012.
GeneCardsiCERS5.
HGNCiHGNC:23749. CERS5.
HPAiHPA026589.
MIMi615335. gene.
neXtProtiNX_Q8N5B7.
OpenTargetsiENSG00000139624.
PharmGKBiPA134882694.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1607. Eukaryota.
COG5058. LUCA.
GeneTreeiENSGT00550000074401.
HOGENOMiHOG000231977.
HOVERGENiHBG052310.
InParanoidiQ8N5B7.
KOiK04710.
OMAiRGKVCND.
OrthoDBiEOG091G0BWM.
PhylomeDBiQ8N5B7.
TreeFamiTF314319.

Enzyme and pathway databases

UniPathwayiUPA00222.
BioCyciZFISH:ENSG00000139624-MONOMER.
BRENDAi2.3.1.24. 2681.
ReactomeiR-HSA-1660661. Sphingolipid de novo biosynthesis.

Miscellaneous databases

ChiTaRSiCERS5. human.
GenomeRNAii91012.
PROiQ8N5B7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000139624.
CleanExiHS_LASS5.
ExpressionAtlasiQ8N5B7. baseline and differential.
GenevisibleiQ8N5B7. HS.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR016439. Lag1/Lac1.
IPR006634. TLC-dom.
[Graphical view]
PANTHERiPTHR12560. PTHR12560. 1 hit.
PfamiPF00046. Homeobox. 1 hit.
PF03798. TRAM_LAG1_CLN8. 1 hit.
[Graphical view]
PIRSFiPIRSF005225. LAG1_LAC1. 1 hit.
SMARTiSM00724. TLC. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS50071. HOMEOBOX_2. 1 hit.
PS50922. TLC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCERS5_HUMAN
AccessioniPrimary (citable) accession number: Q8N5B7
Secondary accession number(s): B4DV54
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: October 1, 2002
Last modified: November 2, 2016
This is version 134 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.