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Q8IU89

- CERS3_HUMAN

UniProt

Q8IU89 - CERS3_HUMAN

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Protein

Ceramide synthase 3

Gene

CERS3

Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi66 – 12762HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
  2. sphingosine N-acyltransferase activity Source: UniProtKB-EC

GO - Biological processi

  1. ceramide biosynthetic process Source: UniProtKB
  2. keratinocyte differentiation Source: UniProtKB
  3. small molecule metabolic process Source: Reactome
  4. sphingolipid biosynthetic process Source: Reactome
  5. sphingolipid metabolic 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

ReactomeiREACT_115810. Sphingolipid de novo biosynthesis.

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
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:23752. CERS3.

Subcellular locationi

Nucleus membrane PROSITE-ProRule annotation; Multi-pass membrane protein Curated

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei32 – 5221HelicalSequence AnalysisAdd
BLAST
Transmembranei139 – 15921HelicalSequence AnalysisAdd
BLAST
Transmembranei174 – 19421HelicalSequence AnalysisAdd
BLAST
Transmembranei205 – 22521HelicalSequence AnalysisAdd
BLAST
Transmembranei264 – 28421HelicalSequence AnalysisAdd
BLAST
Transmembranei298 – 31821HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: Reactome
  2. integral component of membrane Source: UniProtKB-KW
  3. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Ichthyosis

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 383383Ceramide synthase 3PRO_0000185511Add
BLAST

Proteomic databases

PaxDbiQ8IU89.
PRIDEiQ8IU89.

PTM databases

PhosphoSiteiQ8IU89.

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

BgeeiQ8IU89.
CleanExiHS_LASS3.
ExpressionAtlasiQ8IU89. baseline and differential.
GenevestigatoriQ8IU89.

Organism-specific databases

HPAiHPA006092.
HPA024356.

Interactioni

Protein-protein interaction databases

BioGridi128485. 3 interactions.
STRINGi9606.ENSP00000284382.

Structurei

3D structure databases

ProteinModelPortaliQ8IU89.
SMRiQ8IU89. Positions 79-127.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini130 – 331202TLCPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi346 – 35510Poly-Glu

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

eggNOGiCOG5058.
GeneTreeiENSGT00550000074401.
HOVERGENiHBG052310.
InParanoidiQ8IU89.
KOiK04710.
OMAiFRSRRNQ.
OrthoDBiEOG7CZK7X.
PhylomeDBiQ8IU89.
TreeFamiTF314319.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR016439. Longevity_assurance_LAG1_LAC1.
IPR006634. TLC-dom.
[Graphical view]
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti144 – 1441Missing in AAH34500. (PubMed:15489334)Curated
Sequence conflicti316 – 3161L → R in AAH28703. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti45 – 451Y → C.
Corresponds to variant rs60405735 [ dbSNP | Ensembl ].
VAR_061847
Natural varianti342 – 3421D → G.
Corresponds to variant rs1023783 [ dbSNP | Ensembl ].
VAR_057276
Natural varianti370 – 3701R → G.1 Publication
Corresponds to variant rs2439928 [ dbSNP | Ensembl ].
VAR_019328

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_001290341.1.
NP_001277271.1. NM_001290342.1.
NP_001277272.1. NM_001290343.1.
NP_849164.2. NM_178842.3.
XP_006720497.1. XM_006720434.1.
UniGeneiHs.662371.

Genome annotation databases

EnsembliENST00000284382; ENSP00000284382; ENSG00000154227.
ENST00000394113; ENSP00000377672; ENSG00000154227.
ENST00000538112; ENSP00000437640; ENSG00000154227.
GeneIDi204219.
KEGGihsa:204219.
UCSCiuc002bvz.3. human.

Polymorphism databases

DMDMi322510043.

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 .
CCDSi CCDS10384.1.
RefSeqi NP_001277270.1. NM_001290341.1.
NP_001277271.1. NM_001290342.1.
NP_001277272.1. NM_001290343.1.
NP_849164.2. NM_178842.3.
XP_006720497.1. XM_006720434.1.
UniGenei Hs.662371.

3D structure databases

ProteinModelPortali Q8IU89.
SMRi Q8IU89. Positions 79-127.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 128485. 3 interactions.
STRINGi 9606.ENSP00000284382.

PTM databases

PhosphoSitei Q8IU89.

Polymorphism databases

DMDMi 322510043.

Proteomic databases

PaxDbi Q8IU89.
PRIDEi Q8IU89.

Protocols and materials databases

DNASUi 204219.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000284382 ; ENSP00000284382 ; ENSG00000154227 .
ENST00000394113 ; ENSP00000377672 ; ENSG00000154227 .
ENST00000538112 ; ENSP00000437640 ; ENSG00000154227 .
GeneIDi 204219.
KEGGi hsa:204219.
UCSCi uc002bvz.3. human.

Organism-specific databases

CTDi 204219.
GeneCardsi GC15M100941.
HGNCi HGNC:23752. CERS3.
HPAi HPA006092.
HPA024356.
MIMi 615023. phenotype.
615276. gene.
neXtProti NX_Q8IU89.
Orphaneti 79394. Congenital non-bullous ichthyosiform erythroderma.
363992. Ichthyosis-short stature-brachydactyly-microspherophakia syndrome.
PharmGKBi PA134873153.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5058.
GeneTreei ENSGT00550000074401.
HOVERGENi HBG052310.
InParanoidi Q8IU89.
KOi K04710.
OMAi FRSRRNQ.
OrthoDBi EOG7CZK7X.
PhylomeDBi Q8IU89.
TreeFami TF314319.

Enzyme and pathway databases

Reactomei REACT_115810. Sphingolipid de novo biosynthesis.

Miscellaneous databases

GenomeRNAii 204219.
NextBioi 90468.
PROi Q8IU89.
SOURCEi Search...

Gene expression databases

Bgeei Q8IU89.
CleanExi HS_LASS3.
ExpressionAtlasi Q8IU89. baseline and differential.
Genevestigatori Q8IU89.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR016439. Longevity_assurance_LAG1_LAC1.
IPR006634. TLC-dom.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
PF03798. TRAM_LAG1_CLN8. 1 hit.
[Graphical view ]
PIRSFi PIRSF005225. LAG1_LAC1. 1 hit.
SMARTi SM00389. HOX. 1 hit.
SM00724. TLC. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS50071. HOMEOBOX_2. 1 hit.
PS50922. TLC. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. Cited for: FUNCTION, TISSUE SPECIFICITY, INVOLVEMENT IN ARCI9.

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: October 29, 2014
This is version 111 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

External Data

Dasty 3