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Q8IU89 (CERS3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 105. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ceramide synthase 3

Short name=CerS3
EC=2.3.1.24
Alternative name(s):
Dihydroceramide synthase 3
LAG1 longevity assurance homolog 3
Gene names
Name:CERS3
Synonyms:LASS3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length383 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.3

Catalytic activity

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

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

Subcellular location

Nucleus membrane; Multi-pass membrane protein Potential.

Tissue specificity

Expressed in the epidermis, where it localizes at the interface between the stratum granulosum and the stratum corneum (at protein level). Ref.3

Involvement in disease

Ichthyosis, congenital, autosomal recessive 9 (ARCI9) [MIM:615023]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3

Sequence similarities

Contains 1 homeobox DNA-binding domain.

Contains 1 TLC (TRAM/LAG1/CLN8) domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 383383Ceramide synthase 3
PRO_0000185511

Regions

Transmembrane32 – 5221Helical; Potential
Transmembrane139 – 15921Helical; Potential
Transmembrane174 – 19421Helical; Potential
Transmembrane205 – 22521Helical; Potential
Transmembrane264 – 28421Helical; Potential
Transmembrane298 – 31821Helical; Potential
Domain130 – 331202TLC
DNA binding66 – 12762Homeobox
Compositional bias346 – 35510Poly-Glu

Natural variations

Natural variant451Y → C.
Corresponds to variant rs60405735 [ dbSNP | Ensembl ].
VAR_061847
Natural variant3421D → G.
Corresponds to variant rs1023783 [ dbSNP | Ensembl ].
VAR_057276
Natural variant3701R → G. Ref.2
Corresponds to variant rs2439928 [ dbSNP | Ensembl ].
VAR_019328

Experimental info

Sequence conflict1441Missing in AAH34500. Ref.2
Sequence conflict3161L → R in AAH28703. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q8IU89 [UniParc].

Last modified February 8, 2011. Version 2.
Checksum: 6711189C189C8469

FASTA38346,316
        10         20         30         40         50         60 
MFWTFKEWFW LERFWLPPTI KWSDLEDHDG LVFVKPSHLY VTIPYAFLLL IIRRVFEKFV 

        70         80         90        100        110        120 
ASPLAKSFGI KETVRKVTPN TVLENFFKHS TRQPLQTDIY GLAKKCNLTE RQVERWFRSR 

       130        140        150        160        170        180 
RNQERPSRLK KFQEACWRFA FYLMITVAGI AFLYDKPWLY DLWEVWNGYP KQPLLPSQYW 

       190        200        210        220        230        240 
YYILEMSFYW SLLFRLGFDV KRKDFLAHII HHLAAISLMS FSWCANYIRS GTLVMIVHDV 

       250        260        270        280        290        300 
ADIWLESAKM FSYAGWTQTC NTLFFIFSTI FFISRLIVFP FWILYCTLIL PMYHLEPFFS 

       310        320        330        340        350        360 
YIFLNLQLMI LQVLHLYWGY YILKMLNRCI FMKSIQDVRS DDEDYEEEEE EEEEEATKGK 

       370        380 
EMDCLKNGLR AERHLIPNGQ HGH 

« Hide

References

« Hide 'large scale' references
[1]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLY-370.
Tissue: Testis.
[3]"Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans."
Radner F.P., Marrakchi S., Kirchmeier P., Kim G.J., Ribierre F., Kamoun B., Abid L., Leipoldt M., Turki H., Schempp W., Heilig R., Lathrop M., Fischer J.
PLoS Genet. 9:E1003536-E1003536(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, TISSUE SPECIFICITY, INVOLVEMENT IN ARCI9.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_849164.2. NM_178842.3.
UniGeneHs.662371.

3D structure databases

ProteinModelPortalQ8IU89.
SMRQ8IU89. Positions 79-127.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid128485. 3 interactions.
STRING9606.ENSP00000284382.

PTM databases

PhosphoSiteQ8IU89.

Polymorphism databases

DMDM322510043.

Proteomic databases

PaxDbQ8IU89.
PRIDEQ8IU89.

Protocols and materials databases

DNASU204219.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000284382; ENSP00000284382; ENSG00000154227.
ENST00000394113; ENSP00000377672; ENSG00000154227.
ENST00000538112; ENSP00000437640; ENSG00000154227.
GeneID204219.
KEGGhsa:204219.
UCSCuc002bvz.3. human.

Organism-specific databases

CTD204219.
GeneCardsGC15M100941.
HGNCHGNC:23752. CERS3.
HPAHPA006092.
HPA024356.
MIM615023. phenotype.
615276. gene.
neXtProtNX_Q8IU89.
Orphanet363992. Ichthyosis-short stature-brachydactyly-microspherophakia syndrome.
PharmGKBPA134873153.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5058.
HOVERGENHBG052310.
InParanoidQ8IU89.
KOK04710.
OMALYDLWEV.
OrthoDBEOG7CZK7X.
PhylomeDBQ8IU89.
TreeFamTF314319.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

ArrayExpressQ8IU89.
BgeeQ8IU89.
CleanExHS_LASS3.
GenevestigatorQ8IU89.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR016439. Longevity_assurance_LAG1_LAC1.
IPR006634. TLC-dom.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
PF03798. TRAM_LAG1_CLN8. 1 hit.
[Graphical view]
PIRSFPIRSF005225. LAG1_LAC1. 1 hit.
SMARTSM00389. HOX. 1 hit.
SM00724. TLC. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS50071. HOMEOBOX_2. 1 hit.
PS50922. TLC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi204219.
NextBio90468.
PROQ8IU89.
SOURCESearch...

Entry information

Entry nameCERS3_HUMAN
AccessionPrimary (citable) accession number: Q8IU89
Secondary accession number(s): Q8NE64, Q8NEN6
Entry history
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: February 8, 2011
Last modified: April 16, 2014
This is version 105 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM