Q96G23 (CERS2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ceramide synthase 2
Short name=CerS2

Alternative name(s):
LAG1 longevity assurance homolog 2
SP260
Tumor metastasis-suppressor gene 1 protein

Gene names

Name:	CERS2
Synonyms:	LASS2, TMSG1

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	380 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Suppresses the growth of cancer cells. May be involved in sphingolipid synthesis.
Subunit structure	Interacts with ATP6V0C, ASGR1, ASGR2 and SLC22A1/OCT1. Interacts with ELOV1, HSD17B12 and TECR. Ref.1 Ref.17
Subcellular location	Nucleus membrane; Multi-pass membrane protein Potential. Endoplasmic reticulum membrane; Multi-pass membrane protein By similarity.
Tissue specificity	Expressed in kidney, liver, brain, heart, placenta and lung. Ref.1
Sequence similarities	Contains 1 homeobox DNA-binding domain. Contains 1 TLC (TRAM/LAG1/CLN8) domain.
Sequence caution	The sequence BAA91505.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Lipid synthesis
Cellular component	Endoplasmic reticulum Membrane Nucleus
Coding sequence diversity	Polymorphism
Domain	Homeobox Transmembrane Transmembrane helix
Ligand	DNA-binding
PTM	Glycoprotein Phosphoprotein
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 direct assay. Source: HPA
Molecular function	protein binding Inferred from physical interaction Ref.17. Source: UniProtKB 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...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
ASGR1	P07306	3	EBI-1057080,EBI-1172335
ASGR2	P07307	3	EBI-1057080,EBI-1172636
ATP6V0C	P27449	3	EBI-1057080,EBI-721179
HSP90AA1	P07900	2	EBI-1057080,EBI-296047
SLC22A1	O15245	3	EBI-1057080,EBI-1172714

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 380	380	Ceramide synthase 2		PRO_0000185509
Regions
	Topological domain	1 – 40	40	Lumenal Potential
	Transmembrane	41 – 61	21	Helical; Potential
	Topological domain	62 – 139	78	Cytoplasmic Potential
	Transmembrane	140 – 160	21	Helical; Potential
	Topological domain	161 – 180	20	Lumenal Potential
	Transmembrane	181 – 201	21	Helical; Potential
	Topological domain	202 – 208	7	Cytoplasmic Potential
	Transmembrane	209 – 229	21	Helical; Potential
	Topological domain	230 – 263	34	Lumenal Potential
	Transmembrane	264 – 284	21	Helical; Potential
	Topological domain	285 – 303	19	Cytoplasmic Potential
	Transmembrane	304 – 324	21	Helical; Potential
	Topological domain	325 – 380	56	Lumenal Potential
	Domain	131 – 332	202	TLC
	DNA binding	67 – 128	62	Homeobox
Amino acid modifications
	Modified residue	341	1	Phosphoserine Ref.9 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15
	Modified residue	346	1	Phosphothreonine Ref.9 Ref.12 Ref.13 Ref.14 Ref.15
	Modified residue	348	1	Phosphoserine Ref.9 Ref.12 Ref.13 Ref.14 Ref.15
	Modified residue	349	1	Phosphoserine Ref.9 Ref.12 Ref.13 Ref.14 Ref.15
	Glycosylation	19	1	N-linked (GlcNAc...) Ref.10 Ref.16
Natural variations
	Natural variant	115	1	E → A. Corresponds to variant rs267738 [ dbSNP | Ensembl ].		VAR_052325
Experimental info
	Sequence conflict	154	1	I → T in AAF01058. Ref.8
	Sequence conflict	345	1	E → V in AAF01058. Ref.8
	Sequence conflict	353	1	E → K in AAF01058. Ref.8

Sequences

	Sequence		Length	Mass (Da)
	Q96G23 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: C8CEAF6AAD0B4577	FASTA	380	44,876
	10 20 30 40 50 60 MLQTLYDYFW WERLWLPVNL TWADLEDRDG RVYAKASDLY ITLPLALLFL IVRYFFELYV 70 80 90 100 110 120 ATPLAALLNI KEKTRLRAPP NATLEHFYLT SGKQPKQVEV ELLSRQSGLS GRQVERWFRR 130 140 150 160 170 180 RRNQDRPSLL KKFREASWRF TFYLIAFIAG MAVIVDKPWF YDMKKVWEGY PIQSTIPSQY 190 200 210 220 230 240 WYYMIELSFY WSLLFSIASD VKRKDFKEQI IHHVATIILI SFSWFANYIR AGTLIMALHD 250 260 270 280 290 300 SSDYLLESAK MFNYAGWKNT CNNIFIVFAI VFIITRLVIL PFWILHCTLV YPLELYPAFF 310 320 330 340 350 360 GYYFFNSMMG VLQLLHIFWA YLILRMAHKF ITGKLVEDER SDREETESSE GEEAAAGGGA 370 380 KSRPLANGHP ILNNNHRKND

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning, mapping, and characterization of a human homologue of the yeast longevity assurance gene LAG1." Pan H., Qin W.-X., Huo K.-K., Wan D.-F., Yu Y., Xu Z.-G., Hu Q.-D., Gu K.T., Zhou X.-M., Jiang H.-Q., Zhang P.-P., Huang Y., Li Y.-Y., Gu J.-R. Genomics 77:58-64(2001) [PubMed: 11543633] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, INTERACTION WITH ATP6V0C; ASGR1; ASGR2 AND SLC22A1/OCT1. Tissue: Liver.
[2]	Qin W.-X., Gu J.-R., Wan D.-F., Zhou X.-M., Jiang H.-Q., Zhang P.-P., Huang Y., Qiu X.-K., Qian L.F., He L.P., Li H.N., Yu Y., Yu J. Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION.
[3]	Xingfeng C., Yi G. Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[4]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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]. Tissue: Kidney and Skin.
[7]	"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] OF 59-380. Tissue: Embryo.
[8]	"Cancer metastasis-related gene." Liu Y., Zheng J., Wu B., Fang W. Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 151-380. Tissue: Prostatic carcinoma.
[9]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-341; THR-346; SER-348 AND SER-349, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[10]	"Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach." Lewandrowski U., Moebius J., Walter U., Sickmann A. Mol. Cell. Proteomics 5:226-233(2006) [PubMed: 16263699] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-19, MASS SPECTROMETRY. Tissue: Platelet.
[11]	"Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis." Wang B., Malik R., Nigg E.A., Korner R. Anal. Chem. 80:9526-9533(2008) [PubMed: 19007248] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-341, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[12]	"Phosphoproteome of resting human platelets." Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A. J. Proteome Res. 7:526-534(2008) [PubMed: 18088087] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-341; THR-346; SER-348 AND SER-349, MASS SPECTROMETRY. Tissue: Platelet.
[13]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-341; THR-346; SER-348 AND SER-349, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[14]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-341; THR-346; SER-348 AND SER-349, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[15]	"Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography." Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J. Proteomics 8:1346-1361(2008) [PubMed: 18318008] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-341; THR-346; SER-348 AND SER-349, MASS SPECTROMETRY. Tissue: Liver.
[16]	"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-19, MASS SPECTROMETRY. Tissue: Liver.
[17]	"ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis." Ohno Y., Suto S., Yamanaka M., Mizutani Y., Mitsutake S., Igarashi Y., Sassa T., Kihara A. Proc. Natl. Acad. Sci. U.S.A. 107:18439-18444(2010) [PubMed: 20937905] [Abstract] Cited for: INTERACTION WITH ELOV1; HSD17B12 AND TECR.
[18]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF177338 mRNA. Translation: AAG17982.2. AY091458 mRNA. Translation: AAM12028.1. AL590133 Genomic DNA. Translation: CAI13330.1. CH471121 Genomic DNA. Translation: EAW53497.1. CH471121 Genomic DNA. Translation: EAW53498.1. CH471121 Genomic DNA. Translation: EAW53499.1. CH471121 Genomic DNA. Translation: EAW53502.1. BC001357 mRNA. Translation: AAH01357.2. BC010032 mRNA. Translation: AAH10032.1. AK001105 mRNA. Translation: BAA91505.1. Different initiation. AF189062 mRNA. Translation: AAF01058.4.
IPI	IPI00305304.
RefSeq	NP_071358.1. NM_022075.4. NP_859530.1. NM_181746.3.
UniGene	Hs.713103.
3D structure databases
ProteinModelPortal	Q96G23.
SMR	Q96G23. Positions 65-128.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96G23. 14 interactions.
STRING	Q96G23.
PTM databases
PhosphoSite	Q96G23.
Polymorphism databases
DMDM	51316514.
Proteomic databases
PRIDE	Q96G23.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000271688; ENSP00000271688; ENSG00000143418. ENST00000368954; ENSP00000357950; ENSG00000143418.
GeneID	29956.
KEGG	hsa:29956.
UCSC	uc001evy.1. human.
Organism-specific databases
CTD	29956.
GeneCards	GC01M150934.
H-InvDB	HIX0001039.
HGNC	HGNC:14076. CERS2.
HPA	HPA027262.
MIM	606920. gene.
neXtProt	NX_Q96G23.
PharmGKB	PA30300.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00550000074401.
HOGENOM	HBG444829.
HOVERGEN	HBG052310.
InParanoid	Q96G23.
OMA	KFITGKL.
OrthoDB	EOG4TMR2H.
PhylomeDB	Q96G23.
Enzyme and pathway databases
Reactome	REACT_22258. Metabolism of lipids and lipoproteins.
Gene expression databases
ArrayExpress	Q96G23.
Bgee	Q96G23.
CleanEx	HS_LASS2.
Genevestigator	Q96G23.
GermOnline	ENSG00000143418. 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	52663.
SOURCE	Search...

Entry information

Entry name

CERS2_HUMAN

Accession

Primary (citable) accession number: Q96G23
Secondary accession number(s): D3DV06 , Q5SZE5, Q9HD96, Q9NW79

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 16, 2004
Last sequence update:	December 1, 2001
Last modified:	January 25, 2012
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.