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P27544 (CERS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 115. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:CERS1
Synonyms:LAG1, LASS1, UOG1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length350 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein By similarity.

Isoform 1: Endoplasmic reticulum membrane; Multi-pass membrane protein By similarity. Golgi apparatus membrane; Multi-pass membrane protein By similarity. Note: Isoform 1 may recycle from the Golgi to the endoplasmic reticulum.

Miscellaneous

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

Sequence similarities

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

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P27544-1)

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.
Isoform 2 (identifier: P27544-2)

The sequence of this isoform differs from the canonical sequence as follows:
     338-350: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed
Chain2 – 350349Ceramide synthase 1
PRO_0000185507

Regions

Transmembrane53 – 7321Helical; Potential
Transmembrane103 – 12321Helical; Potential
Transmembrane148 – 16821Helical; Potential
Transmembrane176 – 19621Helical; Potential
Transmembrane239 – 25921Helical; Potential
Transmembrane287 – 30721Helical; Potential
Domain97 – 311215TLC

Amino acid modifications

Modified residue21N-acetylalanine

Natural variations

Alternative sequence338 – 35013Missing in isoform 2.
VSP_003049

Experimental info

Sequence conflict1111G → C in AAH22450. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified August 1, 1992. Version 1.
Checksum: F102C12C47DB4162

FASTA35039,536
        10         20         30         40         50         60 
MAAAGPAAGP TGPEPMPSYA QLVQRGWGSA LAAARGCTDC GWGLARRGLA EHAHLAPPEL 

        70         80         90        100        110        120 
LLLALGALGW TALRSAATAR LFRPLAKRCC LQPRDAAKMP ESAWKFLFYL GSWSYSAYLL 

       130        140        150        160        170        180 
FGTDYPFFHD PPSVFYDWTP GMAVPRDIAA AYLLQGSFYG HSIYATLYMD TWRKDSVVML 

       190        200        210        220        230        240 
LHHVVTLILI VSSYAFRYHN VGILVLFLHD ISDVQLEFTK LNIYFKSRGG SYHRLHALAA 

       250        260        270        280        290        300 
DLGCLSFGFS WFWFRLYWFP LKVLYATSHC SLRTVPDIPF YFFFNALLLL LTLMNLYWFL 

       310        320        330        340        350 
YIVAFAAKVL TGQVHELKDL REYDTAEAQS LKPSKAEKPL RNGLVKDKRF 

« Hide

Isoform 2 [UniParc].

Checksum: 563C0D539D8E1E5C
Show »

FASTA33737,983

References

« Hide 'large scale' references
[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. expand/collapse author list , 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].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M62302 mRNA. Translation: AAA58500.1.
AF105009 expand/collapse EMBL AC list , 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.
PIRD39364.
RefSeqNP_067090.1. NM_021267.3.
NP_937850.1. NM_198207.2.
UniGeneHs.412355.

3D structure databases

ProteinModelPortalP27544.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115941. 3 interactions.
IntActP27544. 2 interactions.
MINTMINT-8247548.
STRING9606.ENSP00000402697.

PTM databases

PhosphoSiteP27544.

Polymorphism databases

DMDM137046.

Proteomic databases

PaxDbP27544.
PRIDEP27544.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000427170; ENSP00000402697; ENSG00000223802. [P27544-1]
ENST00000429504; ENSP00000389044; ENSG00000223802. [P27544-2]
GeneID10715.
KEGGhsa:10715.
UCSCuc002nki.1. human. [P27544-1]

Organism-specific databases

CTD10715.
GeneCardsGC19M018982.
HGNCHGNC:14253. CERS1.
HPAHPA045724.
MIM606919. gene.
neXtProtNX_P27544.
PharmGKBPA30299.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG306914.
HOVERGENHBG052309.
KOK04710.
OMAKVLTGQM.
OrthoDBEOG7ZD1VB.
PhylomeDBP27544.
TreeFamTF314319.

Enzyme and pathway databases

BioCycMetaCyc:MONOMER66-34367.
ReactomeREACT_111217. Metabolism.

Gene expression databases

ArrayExpressP27544.
BgeeP27544.
CleanExHS_LASS1.
GenevestigatorP27544.

Family and domain databases

InterProIPR016439. Longevity_assurance_LAG1_LAC1.
IPR006634. TLC-dom.
[Graphical view]
PfamPF03798. TRAM_LAG1_CLN8. 1 hit.
[Graphical view]
PIRSFPIRSF005225. LAG1_LAC1. 1 hit.
SMARTSM00724. TLC. 1 hit.
[Graphical view]
PROSITEPS50922. TLC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiLASS1.
GenomeRNAi10715.
NextBio40679.
PROP27544.
SOURCESearch...

Entry information

Entry nameCERS1_HUMAN
AccessionPrimary (citable) accession number: P27544
Entry history
Integrated into UniProtKB/Swiss-Prot: August 1, 1992
Last sequence update: August 1, 1992
Last modified: March 19, 2014
This is version 115 of the entry and version 1 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 chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM