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Protein

Ceramide synthase 3

Gene

CERS3

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

Functioni

Has (dihydro)ceramide synthesis activity with relatively broad substrate specificity, but a preference for C18:0 and other middle- to long-chain fatty acyl-CoAs (By similarity). It is crucial for the synthesis of very long-chain ceramides in the epidermis, to maintain epidermal lipid homeostasis and terminal differentiation.By similarity1 Publication

Catalytic activityi

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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi66 – 127HomeoboxPROSITE-ProRule annotationAdd BLAST62

GO - Molecular functioni

GO - Biological processi

  • ceramide biosynthetic process Source: UniProtKB
  • keratinocyte differentiation Source: UniProtKB
  • sphingolipid biosynthetic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Biological processi

Lipid biosynthesis, Lipid metabolism

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiR-HSA-1660661. Sphingolipid de novo biosynthesis.

Chemistry databases

SwissLipidsiSLP:000000259.

Names & Taxonomyi

Protein namesi
Recommended name:
Ceramide synthase 3 (EC:2.3.1.24)
Short name:
CerS3
Alternative name(s):
Dihydroceramide synthase 3
LAG1 longevity assurance homolog 3
Gene namesi
Name:CERS3
Synonyms:LASS3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:23752. CERS3.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei32 – 52HelicalSequence analysisAdd BLAST21
Transmembranei139 – 159HelicalSequence analysisAdd BLAST21
Transmembranei174 – 194HelicalSequence analysisAdd BLAST21
Transmembranei205 – 225HelicalSequence analysisAdd BLAST21
Transmembranei264 – 284HelicalSequence analysisAdd BLAST21
Transmembranei298 – 318HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Ichthyosis, congenital, autosomal recessive 9 (ARCI9)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.
See also OMIM:615023

Keywords - Diseasei

Ichthyosis

Organism-specific databases

DisGeNETi204219.
MalaCardsiCERS3.
MIMi615023. phenotype.
OpenTargetsiENSG00000154227.
Orphaneti79394. Congenital non-bullous ichthyosiform erythroderma.
363992. Ichthyosis-short stature-brachydactyly-microspherophakia syndrome.
PharmGKBiPA134873153.

Polymorphism and mutation databases

BioMutaiCERS3.
DMDMi322510043.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001855111 – 383Ceramide synthase 3Add BLAST383

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei340PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ8IU89.
PeptideAtlasiQ8IU89.
PRIDEiQ8IU89.

PTM databases

iPTMnetiQ8IU89.
PhosphoSitePlusiQ8IU89.

Expressioni

Tissue specificityi

Expressed in the epidermis, where it localizes at the interface between the stratum granulosum and the stratum corneum (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000154227.
CleanExiHS_LASS3.
ExpressionAtlasiQ8IU89. baseline and differential.
GenevisibleiQ8IU89. HS.

Organism-specific databases

HPAiHPA006092.
HPA024356.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000284382.

Structurei

3D structure databases

ProteinModelPortaliQ8IU89.
SMRiQ8IU89.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini130 – 331TLCPROSITE-ProRule annotationAdd BLAST202

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi346 – 355Poly-Glu10

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.
HOVERGENiHBG052310.
InParanoidiQ8IU89.
KOiK04710.
OMAiFQEACWR.
OrthoDBiEOG091G0BWM.
PhylomeDBiQ8IU89.
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.
SMARTiSM00389. HOX. 1 hit.
SM00724. TLC. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS50071. HOMEOBOX_2. 1 hit.
PS50922. TLC. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8IU89-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MFWTFKEWFW LERFWLPPTI KWSDLEDHDG LVFVKPSHLY VTIPYAFLLL
60 70 80 90 100
IIRRVFEKFV ASPLAKSFGI KETVRKVTPN TVLENFFKHS TRQPLQTDIY
110 120 130 140 150
GLAKKCNLTE RQVERWFRSR RNQERPSRLK KFQEACWRFA FYLMITVAGI
160 170 180 190 200
AFLYDKPWLY DLWEVWNGYP KQPLLPSQYW YYILEMSFYW SLLFRLGFDV
210 220 230 240 250
KRKDFLAHII HHLAAISLMS FSWCANYIRS GTLVMIVHDV ADIWLESAKM
260 270 280 290 300
FSYAGWTQTC NTLFFIFSTI FFISRLIVFP FWILYCTLIL PMYHLEPFFS
310 320 330 340 350
YIFLNLQLMI LQVLHLYWGY YILKMLNRCI FMKSIQDVRS DDEDYEEEEE
360 370 380
EEEEEATKGK EMDCLKNGLR AERHLIPNGQ HGH
Length:383
Mass (Da):46,316
Last modified:February 8, 2011 - v2
Checksum:i6711189C189C8469
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti144Missing in AAH34500 (PubMed:15489334).Curated1
Sequence conflicti316L → R in AAH28703 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06184745Y → C.Corresponds to variant rs60405735dbSNPEnsembl.1
Natural variantiVAR_057276342D → G.Corresponds to variant rs1023783dbSNPEnsembl.1
Natural variantiVAR_019328370R → G.1 PublicationCorresponds to variant rs2439928dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC015723 Genomic DNA. No translation available.
AC027020 Genomic DNA. No translation available.
BC028703 mRNA. Translation: AAH28703.1.
BC034500 mRNA. Translation: AAH34500.1.
BC034970 mRNA. Translation: AAH34970.1.
CCDSiCCDS10384.1.
RefSeqiNP_001277270.1. NM_001290341.2.
NP_001277271.1. NM_001290342.2.
NP_001277272.1. NM_001290343.1.
NP_849164.2. NM_178842.4.
XP_016877492.1. XM_017022003.1.
XP_016877493.1. XM_017022004.1.
UniGeneiHs.662371.

Genome annotation databases

EnsembliENST00000284382; ENSP00000284382; ENSG00000154227.
ENST00000394113; ENSP00000377672; ENSG00000154227.
ENST00000538112; ENSP00000437640; ENSG00000154227.
GeneIDi204219.
KEGGihsa:204219.
UCSCiuc002bvz.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC015723 Genomic DNA. No translation available.
AC027020 Genomic DNA. No translation available.
BC028703 mRNA. Translation: AAH28703.1.
BC034500 mRNA. Translation: AAH34500.1.
BC034970 mRNA. Translation: AAH34970.1.
CCDSiCCDS10384.1.
RefSeqiNP_001277270.1. NM_001290341.2.
NP_001277271.1. NM_001290342.2.
NP_001277272.1. NM_001290343.1.
NP_849164.2. NM_178842.4.
XP_016877492.1. XM_017022003.1.
XP_016877493.1. XM_017022004.1.
UniGeneiHs.662371.

3D structure databases

ProteinModelPortaliQ8IU89.
SMRiQ8IU89.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000284382.

Chemistry databases

SwissLipidsiSLP:000000259.

PTM databases

iPTMnetiQ8IU89.
PhosphoSitePlusiQ8IU89.

Polymorphism and mutation databases

BioMutaiCERS3.
DMDMi322510043.

Proteomic databases

PaxDbiQ8IU89.
PeptideAtlasiQ8IU89.
PRIDEiQ8IU89.

Protocols and materials databases

DNASUi204219.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000284382; ENSP00000284382; ENSG00000154227.
ENST00000394113; ENSP00000377672; ENSG00000154227.
ENST00000538112; ENSP00000437640; ENSG00000154227.
GeneIDi204219.
KEGGihsa:204219.
UCSCiuc002bvz.4. human.

Organism-specific databases

CTDi204219.
DisGeNETi204219.
GeneCardsiCERS3.
HGNCiHGNC:23752. CERS3.
HPAiHPA006092.
HPA024356.
MalaCardsiCERS3.
MIMi615023. phenotype.
615276. gene.
neXtProtiNX_Q8IU89.
OpenTargetsiENSG00000154227.
Orphaneti79394. Congenital non-bullous ichthyosiform erythroderma.
363992. Ichthyosis-short stature-brachydactyly-microspherophakia syndrome.
PharmGKBiPA134873153.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1607. Eukaryota.
COG5058. LUCA.
GeneTreeiENSGT00550000074401.
HOVERGENiHBG052310.
InParanoidiQ8IU89.
KOiK04710.
OMAiFQEACWR.
OrthoDBiEOG091G0BWM.
PhylomeDBiQ8IU89.
TreeFamiTF314319.

Enzyme and pathway databases

ReactomeiR-HSA-1660661. Sphingolipid de novo biosynthesis.

Miscellaneous databases

GenomeRNAii204219.
PROiQ8IU89.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000154227.
CleanExiHS_LASS3.
ExpressionAtlasiQ8IU89. baseline and differential.
GenevisibleiQ8IU89. 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.
SMARTiSM00389. HOX. 1 hit.
SM00724. TLC. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS50071. HOMEOBOX_2. 1 hit.
PS50922. TLC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCERS3_HUMAN
AccessioniPrimary (citable) accession number: Q8IU89
Secondary accession number(s): Q8NE64, Q8NEN6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: February 8, 2011
Last modified: November 2, 2016
This is version 127 of the entry and version 2 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 15
    Human chromosome 15: 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. 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.