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Protein

Ceramide synthase 3

Gene

CERS3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionDNA-binding, Transferase
Biological processLipid biosynthesis, Lipid metabolism

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

EuPathDBiHostDB:ENSG00000154227.13
HGNCiHGNC:23752 CERS3
MIMi615276 gene
neXtProtiNX_Q8IU89

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

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
ProteomicsDBi70524

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

BioGridi128485, 1 interactor
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

Keywords - Domaini

Homeobox, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR001356 Homeobox_dom
IPR016439 Lag1/Lac1-like
IPR006634 TLC-dom
PANTHERiPTHR12560 PTHR12560, 1 hit
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PF03798 TRAM_LAG1_CLN8, 1 hit
PIRSFiPIRSF005225 LAG1_LAC1, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SM00724 TLC, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS50071 HOMEOBOX_2, 1 hit
PS50922 TLC, 1 hit

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 dbSNP:rs60405735Ensembl.1
Natural variantiVAR_057276342D → G. Corresponds to variant dbSNP:rs1023783Ensembl.1
Natural variantiVAR_019328370R → G1 PublicationCorresponds to variant dbSNP:rs2439928Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiCERS3_HUMAN
AccessioniPrimary (citable) accession number: Q8IU89
Secondary accession number(s): Q8NE64, Q8NEN6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: February 8, 2011
Last modified: June 20, 2018
This is version 137 of the entry and version 2 of the sequence. See 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

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