Q6ZMG9 (CERS6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ceramide synthase 6
Short name=CerS5

Alternative name(s):
LAG1 longevity assurance homolog 6

Gene names

Name:	CERS6
Synonyms:	LASS6

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	384 AA.
Sequence status	Complete.
Protein existence	Evidence at protein 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. Endoplasmic reticulum membrane; Multi-pass membrane protein By similarity.
Post-translational modification	Glycosylation on Asn-18 is not necessary for function By similarity.
Sequence similarities	Contains 1 homeobox DNA-binding domain. Contains 1 TLC (TRAM/LAG1/CLN8) domain.
Sequence caution	The sequence AAH30800.2 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.

Ontologies

Keywords
Biological process	Lipid synthesis
Cellular component	Endoplasmic reticulum Membrane Nucleus
Domain	Homeobox Transmembrane Transmembrane helix
Ligand	DNA-binding
PTM	Glycoprotein
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 – 384	384	Ceramide synthase 6		PRO_0000185516
Regions
	Topological domain	1 – 34	34	Lumenal Potential
	Transmembrane	35 – 55	21	Helical; Potential
	Topological domain	56 – 177	122	Cytoplasmic Potential
	Transmembrane	178 – 198	21	Helical; Potential
	Topological domain	199 – 204	6	Lumenal Potential
	Transmembrane	205 – 225	21	Helical; Potential
	Topological domain	226 – 262	37	Cytoplasmic Potential
	Transmembrane	263 – 283	21	Helical; Potential
	Topological domain	284 – 302	19	Lumenal Potential
	Transmembrane	303 – 323	21	Helical; Potential
	Topological domain	324 – 384	61	Cytoplasmic Potential
	Domain	130 – 331	202	TLC
	DNA binding	66 – 127	62	Homeobox
Amino acid modifications
	Glycosylation	18	1	N-linked (GlcNAc...) Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q6ZMG9 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: B3C400D6317D9E5E	FASTA	384	44,890
	10 20 30 40 50 60 MAGILAWFWN ERFWLPHNVT WADLKNTEEA TFPQAEDLYL AFPLAFCIFM VRLIFERFVA 70 80 90 100 110 120 KPCAIALNIQ ANGPQIAPPN AILEKVFTAI TKHPDEKRLE GLSKQLDWDV RSIQRWFRQR 130 140 150 160 170 180 RNQEKPSTLT RFCESMWRFS FYLYVFTYGV RFLKKTPWLW NTRHCWYNYP YQPLTTDLHY 190 200 210 220 230 240 YYILELSFYW SLMFSQFTDI KRKDFGIMFL HHLVSIFLIT FSYVNNMARV GTLVLCLHDS 250 260 270 280 290 300 ADALLEAAKM ANYAKFQKMC DLLFVMFAVV FITTRLGIFP LWVLNTTLFE SWEIVGPYPS 310 320 330 340 350 360 WWVFNLLLLL VQGLNCFWSY LIVKIACKAV SRGKVSKDDR SDIESSSDEE DSEPPGKNPH 370 380 TATTTNGTSG TNGYLLTGSC SMDD

References

[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Colon mucosa.
[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] OF 191-384. Tissue: Duodenum.
[3]	"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed: 19159218] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-18, MASS SPECTROMETRY. Tissue: Liver.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK172775 mRNA. Translation: BAD18757.1. BC030800 mRNA. Translation: AAH30800.2. Sequence problems.
IPI	IPI00409608.
RefSeq	NP_982288.1. NM_203463.1.
UniGene	Hs.506829. Hs.724377.
3D structure databases
ProteinModelPortal	Q6ZMG9.
SMR	Q6ZMG9. Positions 77-127.
ModBase	Search...
Protein-protein interaction databases
STRING	Q6ZMG9.
Polymorphism databases
DMDM	51316251.
Proteomic databases
PRIDE	Q6ZMG9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000305747; ENSP00000306579; ENSG00000172292.
GeneID	253782.
KEGG	hsa:253782.
UCSC	uc002ueb.1. human.
Organism-specific databases
CTD	253782.
GeneCards	GC02P169313.
H-InvDB	HIX0002566.
HGNC	HGNC:23826. CERS6.
HPA	HPA044683.
neXtProt	NX_Q6ZMG9.
PharmGKB	PA134925480.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00550000074401.
HOVERGEN	HBG052310.
OrthoDB	EOG4NVZKJ.
PhylomeDB	Q6ZMG9.
Enzyme and pathway databases
Reactome	REACT_22258. Metabolism of lipids and lipoproteins.
Gene expression databases
ArrayExpress	Q6ZMG9.
Bgee	Q6ZMG9.
CleanEx	HS_LASS6.
Genevestigator	Q6ZMG9.
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	92167.

Entry information

Entry name

CERS6_HUMAN

Accession

Primary (citable) accession number: Q6ZMG9
Secondary accession number(s): Q8N617

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 16, 2004
Last sequence update:	July 5, 2004
Last modified:	January 25, 2012
This is version 79 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.