Q8IU89 (CERS3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ceramide synthase 3
Short name=CerS3

Alternative name(s):
LAG1 longevity assurance homolog 3

Gene names

Name:	CERS3
Synonyms:	LASS3

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	383 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	May be involved in sphingolipid synthesis or its regulation By similarity.
Subcellular location	Nucleus membrane; Multi-pass membrane protein Potential.
Sequence similarities	Contains 1 homeobox DNA-binding domain. Contains 1 TLC (TRAM/LAG1/CLN8) domain.

Ontologies

Keywords
Biological process	Lipid synthesis
Cellular component	Membrane Nucleus
Coding sequence diversity	Polymorphism
Domain	Homeobox Transmembrane Transmembrane helix
Ligand	DNA-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	endoplasmic reticulum membrane Traceable author statement. Source: Reactome integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW nuclear membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 383	383	Ceramide synthase 3		PRO_0000185511
Regions
	Transmembrane	32 – 52	21	Helical; Potential
	Transmembrane	139 – 159	21	Helical; Potential
	Transmembrane	174 – 194	21	Helical; Potential
	Transmembrane	205 – 225	21	Helical; Potential
	Transmembrane	264 – 284	21	Helical; Potential
	Transmembrane	298 – 318	21	Helical; Potential
	Domain	130 – 331	202	TLC
	DNA binding	66 – 127	62	Homeobox
	Compositional bias	346 – 355	10	Poly-Glu
Natural variations
	Natural variant	45	1	Y → C. Corresponds to variant rs60405735 [ dbSNP | Ensembl ].		VAR_061847
	Natural variant	342	1	D → G. Corresponds to variant rs1023783 [ dbSNP | Ensembl ].		VAR_057276
	Natural variant	370	1	R → G. Ref.2 Corresponds to variant rs2439928 [ dbSNP | Ensembl ].		VAR_019328
Experimental info
	Sequence conflict	144	1	Missing in AAH34500. Ref.2
	Sequence conflict	316	1	L → R in AAH28703. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q8IU89 [UniParc]. Last modified February 8, 2011. Version 2. Checksum: 6711189C189C8469	FASTA	383	46,316
	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

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. , 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: 16572171] [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLY-370. Tissue: Testis.
+	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.
IPI	IPI00796378.
RefSeq	NP_849164.2. NM_178842.3.
UniGene	Hs.662371.
3D structure databases
ProteinModelPortal	Q8IU89.
SMR	Q8IU89. Positions 65-127.
ModBase	Search...
Protein-protein interaction databases
STRING	Q8IU89.
PTM databases
PhosphoSite	Q8IU89.
Polymorphism databases
DMDM	50401058.
Proteomic databases
PRIDE	Q8IU89.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000284382; ENSP00000284382; ENSG00000154227. ENST00000394113; ENSP00000377672; ENSG00000154227.
GeneID	204219.
KEGG	hsa:204219.
UCSC	uc002bvz.1. human.
Organism-specific databases
CTD	204219.
GeneCards	GC15M100941.
HGNC	HGNC:23752. CERS3.
HPA	HPA006092. HPA024356.
neXtProt	NX_Q8IU89.
PharmGKB	PA134873153.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG08054.
GeneTree	ENSGT00550000074401.
HOGENOM	HBG444829.
HOVERGEN	HBG052310.
InParanoid	Q8IU89.
OrthoDB	EOG4TMR29.
PhylomeDB	Q8IU89.
Enzyme and pathway databases
Reactome	REACT_22258. Metabolism of lipids and lipoproteins.
Gene expression databases
ArrayExpress	Q8IU89.
Bgee	Q8IU89.
CleanEx	HS_LASS3.
Genevestigator	Q8IU89.
GermOnline	ENSG00000154227. Homo sapiens.
Family and domain databases
InterPro	IPR001356. Homeobox. IPR009057. Homeodomain-like. IPR012287. Homeodomain-rel. IPR016439. Longevity_assurance_LAG1_LAC1. IPR006634. TLC-dom. [Graphical view]
Gene3D	G3DSA:1.10.10.60. Homeodomain-rel. 1 hit.
KO	K04710.
Pfam	PF00046. Homeobox. 1 hit. PF03798. TRAM_LAG1_CLN8. 1 hit. [Graphical view]
PIRSF	PIRSF005225. LAG1_LAC1. 1 hit.
SMART	SM00389. HOX. 1 hit. SM00724. TLC. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. False negative. PS50071. HOMEOBOX_2. 1 hit. PS50922. TLC. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	90468.

Entry information

Entry name

CERS3_HUMAN

Accession

Primary (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:	January 25, 2012
This is version 83 of the entry and version 2 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.