Q8N5B7 (CERS5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ceramide synthase 5
Short name=CerS5

Alternative name(s):
LAG1 longevity assurance homolog 5

Gene names

Name:	CERS5
Synonyms:	LASS5

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	392 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 palmitoyl- (C16) ceramide) in a fumonisin B1-independent manner By similarity.
Subcellular location	Nucleus membrane; Multi-pass membrane protein Potential. Endoplasmic reticulum membrane; Multi-pass membrane protein By similarity.
Sequence similarities	Contains 1 homeobox DNA-binding domain. Contains 1 TLC (TRAM/LAG1/CLN8) domain.

Ontologies

Keywords
Biological process	Lipid biosynthesis Lipid metabolism
Cellular component	Endoplasmic reticulum Membrane Nucleus
Coding sequence diversity	Polymorphism
Domain	Homeobox Transmembrane Transmembrane helix
Ligand	DNA-binding
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ceramide biosynthetic process Inferred from direct assay PubMed 16951403. Source: HGNC phospholipid metabolic process Traceable author statement. Source: Reactome small molecule metabolic process Traceable author statement. Source: Reactome
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 sphingosine N-acyltransferase activity Inferred from direct assay PubMed 16951403. Source: HGNC
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 392	392	Ceramide synthase 5		PRO_0000185514
Regions
	Topological domain	1 – 46	46	Lumenal Potential
	Transmembrane	47 – 67	21	Helical; Potential
	Topological domain	68 – 147	80	Cytoplasmic Potential
	Transmembrane	148 – 168	21	Helical; Potential
	Topological domain	169 – 182	14	Lumenal Potential
	Transmembrane	183 – 203	21	Helical; Potential
	Topological domain	204 – 213	10	Cytoplasmic Potential
	Transmembrane	214 – 234	21	Helical; Potential
	Topological domain	235 – 271	37	Lumenal Potential
	Transmembrane	272 – 292	21	Helical; Potential
	Topological domain	293 – 310	18	Cytoplasmic Potential
	Transmembrane	311 – 331	21	Helical; Potential
	Topological domain	332 – 392	61	Lumenal Potential
	Domain	139 – 340	202	TLC
	DNA binding	75 – 136	62	Homeobox
Amino acid modifications
	Glycosylation	26	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	75	1	C → R. Corresponds to variant rs7302981 [ dbSNP | Ensembl ].		VAR_019558

Sequences

	Sequence		Length	Mass (Da)
	Q8N5B7 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: E95658B20CE114B5	FASTA	392	45,752
	10 20 30 40 50 60 MATAAQGPLS LLWGWLWSER FWLPENVSWA DLEGPADGYG YPRGRHILSV FPLAAGIFFV 70 80 90 100 110 120 RLLFERFIAK PCALCIGIED SGPYQAQPNA ILEKVFISIT KYPDKKRLEG LSKQLDWNVR 130 140 150 160 170 180 KIQCWFRHRR NQDKPPTLTK FCESMWRFTF YLCIFCYGIR FLWSSPWFWD IRQCWHNYPF 190 200 210 220 230 240 QPLSSGLYHY YIMELAFYWS LMFSQFTDIK RKDFLIMFVH HLVTIGLISF SYINNMVRVG 250 260 270 280 290 300 TLIMCLHDVS DFLLEAAKLA NYAKYQRLCD TLFVIFSAVF MVTRLGIYPF WILNTTLFES 310 320 330 340 350 360 WEIIGPYASW WLLNGLLLTL QLLHVIWSYL IARIALKALI RGKVSKDDRS DVESSSEEED 370 380 390 VTTCTKSPCD SSSSNGANRV NGHMGGSYWA EE

References

[1]	"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]. Tissue: Eye.

Cross-references

Sequence databases
EMBL GenBank DDBJ	BC032565 mRNA. Translation: AAH32565.1.
IPI	IPI00166833.
RefSeq	NP_671723.1. NM_147190.2.
UniGene	Hs.270525.
3D structure databases
ProteinModelPortal	Q8N5B7.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000325485.
PTM databases
PhosphoSite	Q8N5B7.
Polymorphism databases
DMDM	51316484.
Proteomic databases
PaxDb	Q8N5B7.
PRIDE	Q8N5B7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000317551; ENSP00000325485; ENSG00000139624.
GeneID	91012.
KEGG	hsa:91012.
UCSC	uc001rwd.4. human.
Organism-specific databases
CTD	91012.
GeneCards	GC12M050524.
HGNC	HGNC:23749. CERS5.
HPA	HPA026589.
neXtProt	NX_Q8N5B7.
PharmGKB	PA134882694.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5058.
HOVERGEN	HBG052310.
InParanoid	Q8N5B7.
KO	K04710.
OMA	NQDKPST.
OrthoDB	EOG4NVZKJ.
PhylomeDB	Q8N5B7.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
Gene expression databases
ArrayExpress	Q8N5B7.
Bgee	Q8N5B7.
CleanEx	HS_LASS5.
Genevestigator	Q8N5B7.
GermOnline	ENSG00000139624. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.60. 1 hit.
InterPro	IPR001356. Homeodomain. IPR009057. Homeodomain-like. IPR016439. Longevity_assurance_LAG1_LAC1. IPR006634. TLC-dom. [Graphical view]
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
ChiTaRS	CERS5. human.
GenomeRNAi	91012.
NextBio	77074.

Entry information

Entry name

CERS5_HUMAN

Accession

Primary (citable) accession number: Q8N5B7

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 16, 2004
Last sequence update:	October 1, 2002
Last modified:	May 1, 2013
This is version 100 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.