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Protein

Ceramide synthase 1

Gene

CERS1

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

Functioni

May be either a bona fide (dihydro)ceramide synthase or a modulator of its activity. When overexpressed in cells is involved in the production of sphingolipids containing mainly one fatty acid donor (N-linked stearoyl- (C18) ceramide) in a fumonisin B1-independent manner (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

  • cellular response to dithiothreitol Source: UniProtKB
  • cellular response to drug Source: UniProtKB
  • cellular response to mycotoxin Source: UniProtKB
  • cellular response to UV-A Source: UniProtKB
  • ceramide biosynthetic process Source: UniProtKB
  • negative regulation of telomerase activity Source: UniProtKB
  • small molecule metabolic process Source: Reactome
  • sphingolipid biosynthetic process Source: UniProtKB
  • sphingolipid metabolic process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Lipid biosynthesis, Lipid metabolism

Enzyme and pathway databases

BioCyciMetaCyc:MONOMER66-34367.
BRENDAi2.3.1.24. 2681.
ReactomeiREACT_115810. Sphingolipid de novo biosynthesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Ceramide synthase 1
Short name:
CerS1
Alternative name(s):
LAG1 longevity assurance homolog 1
Longevity assurance gene 1 protein homolog 1
Protein UOG-1
Gene namesi
Name:CERS1
Synonyms:LAG1, LASS1, UOG1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:14253. CERS1.

Subcellular locationi

Isoform 1 :

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei53 – 7321HelicalSequence AnalysisAdd
BLAST
Transmembranei103 – 12321HelicalSequence AnalysisAdd
BLAST
Transmembranei148 – 16821HelicalSequence AnalysisAdd
BLAST
Transmembranei176 – 19621HelicalSequence AnalysisAdd
BLAST
Transmembranei239 – 25921HelicalSequence AnalysisAdd
BLAST
Transmembranei287 – 30721HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane Source: Reactome
  • Golgi membrane Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB-KW
  • intracellular membrane-bounded organelle Source: BHF-UCL
  • membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Epilepsy, progressive myoclonic 8 (EPM8)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA severe form of progressive myoclonic epilepsy characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment.

See also OMIM:616230
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti183 – 1831H → Q in EPM8; expressed and localized properly to the ER; enzymatic ceramid biosynthesis activity is impaired. 1 Publication
VAR_073336

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

MIMi616230. phenotype.
PharmGKBiPA30299.

Polymorphism and mutation databases

BioMutaiCERS1.
DMDMi137046.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 350349Ceramide synthase 1PRO_0000185507Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiP27544.
PaxDbiP27544.
PRIDEiP27544.

PTM databases

PhosphoSiteiP27544.

Expressioni

Gene expression databases

BgeeiP27544.
CleanExiHS_LASS1.
ExpressionAtlasiP27544. baseline and differential.
GenevisibleiP27544. HS.

Organism-specific databases

HPAiHPA045724.

Interactioni

Protein-protein interaction databases

BioGridi115941. 1 interaction.
IntActiP27544. 2 interactions.
MINTiMINT-8247548.
STRINGi9606.ENSP00000402697.

Structurei

3D structure databases

ProteinModelPortaliP27544.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini97 – 311215TLCPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG306914.
GeneTreeiENSGT00760000118883.
HOVERGENiHBG052309.
InParanoidiP27544.
OMAiSLSWFWF.
OrthoDBiEOG7ZD1VB.
PhylomeDBiP27544.
TreeFamiTF314319.

Family and domain databases

InterProiIPR016439. Lag1/Lac1.
IPR006634. TLC-dom.
[Graphical view]
PANTHERiPTHR12560. PTHR12560. 1 hit.
PfamiPF03798. TRAM_LAG1_CLN8. 1 hit.
[Graphical view]
SMARTiSM00724. TLC. 1 hit.
[Graphical view]
PROSITEiPS50922. TLC. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

Isoform 1 (identifier: P27544-1) [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
MAAAGPAAGP TGPEPMPSYA QLVQRGWGSA LAAARGCTDC GWGLARRGLA
60 70 80 90 100
EHAHLAPPEL LLLALGALGW TALRSAATAR LFRPLAKRCC LQPRDAAKMP
110 120 130 140 150
ESAWKFLFYL GSWSYSAYLL FGTDYPFFHD PPSVFYDWTP GMAVPRDIAA
160 170 180 190 200
AYLLQGSFYG HSIYATLYMD TWRKDSVVML LHHVVTLILI VSSYAFRYHN
210 220 230 240 250
VGILVLFLHD ISDVQLEFTK LNIYFKSRGG SYHRLHALAA DLGCLSFGFS
260 270 280 290 300
WFWFRLYWFP LKVLYATSHC SLRTVPDIPF YFFFNALLLL LTLMNLYWFL
310 320 330 340 350
YIVAFAAKVL TGQVHELKDL REYDTAEAQS LKPSKAEKPL RNGLVKDKRF
Length:350
Mass (Da):39,536
Last modified:August 1, 1992 - v1
Checksum:iF102C12C47DB4162
GO
Isoform 2 (identifier: P27544-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     338-350: Missing.

Note: No experimental confirmation available.
Show »
Length:337
Mass (Da):37,983
Checksum:i563C0D539D8E1E5C
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti111 – 1111G → C in AAH22450 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti183 – 1831H → Q in EPM8; expressed and localized properly to the ER; enzymatic ceramid biosynthesis activity is impaired. 1 Publication
VAR_073336

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei338 – 35013Missing in isoform 2. 1 PublicationVSP_003049Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M62302 mRNA. Translation: AAA58500.1.
AF105009
, AF105005, AF105006, AF105007, AF105008 Genomic DNA. Translation: AAD16892.1.
AC005197 Genomic DNA. Translation: AAC24611.1.
AC003972 Genomic DNA. No translation available.
BC022450 mRNA. Translation: AAH22450.1.
CCDSiCCDS46020.1. [P27544-1]
CCDS46021.1. [P27544-2]
PIRiD39364.
RefSeqiNP_067090.1. NM_021267.4. [P27544-1]
NP_937850.1. NM_198207.2. [P27544-2]
UniGeneiHs.412355.

Genome annotation databases

EnsembliENST00000429504; ENSP00000389044; ENSG00000223802. [P27544-2]
ENST00000623882; ENSP00000485308; ENSG00000223802.
GeneIDi10715.
UCSCiuc002nki.1. human. [P27544-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M62302 mRNA. Translation: AAA58500.1.
AF105009
, AF105005, AF105006, AF105007, AF105008 Genomic DNA. Translation: AAD16892.1.
AC005197 Genomic DNA. Translation: AAC24611.1.
AC003972 Genomic DNA. No translation available.
BC022450 mRNA. Translation: AAH22450.1.
CCDSiCCDS46020.1. [P27544-1]
CCDS46021.1. [P27544-2]
PIRiD39364.
RefSeqiNP_067090.1. NM_021267.4. [P27544-1]
NP_937850.1. NM_198207.2. [P27544-2]
UniGeneiHs.412355.

3D structure databases

ProteinModelPortaliP27544.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115941. 1 interaction.
IntActiP27544. 2 interactions.
MINTiMINT-8247548.
STRINGi9606.ENSP00000402697.

PTM databases

PhosphoSiteiP27544.

Polymorphism and mutation databases

BioMutaiCERS1.
DMDMi137046.

Proteomic databases

MaxQBiP27544.
PaxDbiP27544.
PRIDEiP27544.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000429504; ENSP00000389044; ENSG00000223802. [P27544-2]
ENST00000623882; ENSP00000485308; ENSG00000223802.
GeneIDi10715.
UCSCiuc002nki.1. human. [P27544-1]

Organism-specific databases

CTDi10715.
GeneCardsiGC19M018982.
HGNCiHGNC:14253. CERS1.
HPAiHPA045724.
MIMi606919. gene.
616230. phenotype.
neXtProtiNX_P27544.
PharmGKBiPA30299.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG306914.
GeneTreeiENSGT00760000118883.
HOVERGENiHBG052309.
InParanoidiP27544.
OMAiSLSWFWF.
OrthoDBiEOG7ZD1VB.
PhylomeDBiP27544.
TreeFamiTF314319.

Enzyme and pathway databases

BioCyciMetaCyc:MONOMER66-34367.
BRENDAi2.3.1.24. 2681.
ReactomeiREACT_115810. Sphingolipid de novo biosynthesis.

Miscellaneous databases

GeneWikiiLASS1.
GenomeRNAii10715.
NextBioi40679.
PROiP27544.
SOURCEiSearch...

Gene expression databases

BgeeiP27544.
CleanExiHS_LASS1.
ExpressionAtlasiP27544. baseline and differential.
GenevisibleiP27544. HS.

Family and domain databases

InterProiIPR016439. Lag1/Lac1.
IPR006634. TLC-dom.
[Graphical view]
PANTHERiPTHR12560. PTHR12560. 1 hit.
PfamiPF03798. TRAM_LAG1_CLN8. 1 hit.
[Graphical view]
SMARTiSM00724. TLC. 1 hit.
[Graphical view]
PROSITEiPS50922. TLC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Expression of growth/differentiation factor 1 in the nervous system: conservation of a bicistronic structure."
    Lee S.-J.
    Proc. Natl. Acad. Sci. U.S.A. 88:4250-4254(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Homologs of the yeast longevity gene LAG1 in Caenorhabditis elegans and human."
    Jiang J.C., Kirchman P.A., Zagulski M., Hunt J., Jazwinski S.M.
    Genome Res. 8:1259-1272(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
  3. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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] (ISOFORM 2).
    Tissue: Hypothalamus.
  5. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
    Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
    Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  6. Cited for: INVOLVEMENT IN EPM8, VARIANT EPM8 GLN-183, CHARACTERIZATION OF VARIANT EPM8 GLN-183.

Entry informationi

Entry nameiCERS1_HUMAN
AccessioniPrimary (citable) accession number: P27544
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1992
Last sequence update: August 1, 1992
Last modified: July 22, 2015
This is version 127 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

Miscellaneous

This protein is produced by a bicistronic gene which also produces the GDF1 protein from a non-overlapping reading frame.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: 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

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 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.