P27544 (CERS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	CERS1
Synonyms:	LAG1, LASS1, UOG1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	350 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript 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.

Ontologies

Keywords
Biological process	Lipid synthesis
Cellular component	Endoplasmic reticulum Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	ceramide biosynthetic process Inferred from sequence or structural similarity. Source: HGNC
Cellular component	Golgi membrane Inferred from electronic annotation. Source: UniProtKB-SubCell endoplasmic reticulum membrane Traceable author statement. Source: Reactome integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW microsome Inferred from sequence or structural similarity. Source: HGNC
Molecular function	sphingosine N-acyltransferase activity Inferred from sequence or structural similarity. Source: HGNC
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 350	350	Ceramide synthase 1		PRO_0000185507
Regions
	Transmembrane	53 – 73	21	Helical; Potential
	Transmembrane	103 – 123	21	Helical; Potential
	Transmembrane	148 – 168	21	Helical; Potential
	Transmembrane	176 – 196	21	Helical; Potential
	Transmembrane	239 – 259	21	Helical; Potential
	Transmembrane	287 – 307	21	Helical; Potential
	Domain	97 – 311	215	TLC
Natural variations
	Alternative sequence	338 – 350	13	Missing in isoform 2.		VSP_003049
Experimental info
	Sequence conflict	111	1	G → C in AAH22450. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified August 1, 1992. Version 1. Checksum: F102C12C47DB4162	FASTA	350	39,536
	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
	Isoform 2 [UniParc]. Checksum: 563C0D539D8E1E5C	FASTA	337	37,983
	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 YIVAFAAKVL TGQVHELKDL REYDTAEAQS LKPSKAE

References

	« Hide 'large scale' referencesShow '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: 2034669] [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: 9872981] [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: 15057824] [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Hypothalamus.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00019462. IPI00218587.
PIR	D39364.
RefSeq	NP_067090.1. NM_021267.3. NP_937850.1. NM_198207.2.
UniGene	Hs.412355.
3D structure databases
ProteinModelPortal	P27544.
ModBase	Search...
Protein-protein interaction databases
STRING	P27544.
PTM databases
PhosphoSite	P27544.
Polymorphism databases
DMDM	137046.
Proteomic databases
PRIDE	P27544.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000427170; ENSP00000402697; ENSG00000223802.
GeneID	10715.
KEGG	hsa:10715.
Organism-specific databases
CTD	10715.
GeneCards	GC19M018982.
HGNC	HGNC:14253. CERS1.
HPA	HPA045724.
MIM	606919. gene.
neXtProt	NX_P27544.
PharmGKB	PA30299.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HBG714651.
HOVERGEN	HBG052309.
OMA	DSVVMLL.
OrthoDB	EOG4GXFN5.
PhylomeDB	P27544.
Enzyme and pathway databases
Reactome	REACT_22258. Metabolism of lipids and lipoproteins.
Gene expression databases
Bgee	P27544.
CleanEx	HS_LASS1.
Genevestigator	P27544.
Family and domain databases
InterPro	IPR016439. Longevity_assurance_LAG1_LAC1. IPR006634. TLC-dom. [Graphical view]
KO	K04710.
Pfam	PF03798. TRAM_LAG1_CLN8. 1 hit. [Graphical view]
PIRSF	PIRSF005225. LAG1_LAC1. 1 hit.
SMART	SM00724. TLC. 1 hit. [Graphical view]
PROSITE	PS50922. TLC. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	40679.
SOURCE	Search...

Entry information

Entry name

CERS1_HUMAN

Accession

Primary (citable) accession number: P27544

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 1, 1992
Last sequence update:	August 1, 1992
Last modified:	January 25, 2012
This is version 98 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.