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Q6ZMG9 (CERS6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 104. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ceramide synthase 6

Short name=CerS6
Alternative name(s):
LAG1 longevity assurance homolog 6
Gene names
Name:CERS6
Synonyms:LASS6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length384 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q6ZMG9-1)

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: Q6ZMG9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     334-334: K → KAGKWNPLH

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 384384Ceramide synthase 6
PRO_0000185516

Regions

Topological domain1 – 3434Lumenal Potential
Transmembrane35 – 5521Helical; Potential
Topological domain56 – 177122Cytoplasmic Potential
Transmembrane178 – 19821Helical; Potential
Topological domain199 – 2046Lumenal Potential
Transmembrane205 – 22521Helical; Potential
Topological domain226 – 26237Cytoplasmic Potential
Transmembrane263 – 28321Helical; Potential
Topological domain284 – 30219Lumenal Potential
Transmembrane303 – 32321Helical; Potential
Topological domain324 – 38461Cytoplasmic Potential
Domain130 – 331202TLC
DNA binding66 – 12762Homeobox

Amino acid modifications

Glycosylation181N-linked (GlcNAc...) Ref.4

Natural variations

Alternative sequence3341K → KAGKWNPLH in isoform 2.
VSP_045162

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: B3C400D6317D9E5E

FASTA38444,890
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 8977CEFEEA561DE4
Show »

FASTA39245,794

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. expand/collapse author list , 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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Colon mucosa.
[2]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"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] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 191-384 (ISOFORM 1).
Tissue: Duodenum.
[4]"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] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-18.
Tissue: Liver.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK172775 mRNA. Translation: BAD18757.1.
AC009475 Genomic DNA. No translation available.
AC019086 Genomic DNA. No translation available.
AC097453 Genomic DNA. No translation available.
BC109284 mRNA. Translation: AAI09285.1.
BC109285 mRNA. Translation: AAI09286.1.
BC030800 mRNA. Translation: AAH30800.2. Sequence problems.
CCDSCCDS2228.1. [Q6ZMG9-1]
CCDS58734.1. [Q6ZMG9-2]
RefSeqNP_001243055.1. NM_001256126.1. [Q6ZMG9-2]
NP_982288.1. NM_203463.2. [Q6ZMG9-1]
UniGeneHs.506829.
Hs.743222.

3D structure databases

ProteinModelPortalQ6ZMG9.
SMRQ6ZMG9. Positions 77-127.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid128987. 2 interactions.
STRING9606.ENSP00000306579.

PTM databases

PhosphoSiteQ6ZMG9.

Polymorphism databases

DMDM51316251.

Proteomic databases

MaxQBQ6ZMG9.
PaxDbQ6ZMG9.
PRIDEQ6ZMG9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000305747; ENSP00000306579; ENSG00000172292. [Q6ZMG9-1]
ENST00000392687; ENSP00000376453; ENSG00000172292. [Q6ZMG9-2]
GeneID253782.
KEGGhsa:253782.
UCSCuc002ueb.2. human. [Q6ZMG9-1]
uc002uec.2. human.

Organism-specific databases

CTD253782.
GeneCardsGC02P169313.
HGNCHGNC:23826. CERS6.
HPAHPA044683.
MIM615336. gene.
neXtProtNX_Q6ZMG9.
PharmGKBPA134925480.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5058.
HOVERGENHBG052310.
KOK04710.
OMACIFMIRL.
OrthoDBEOG7CZK7X.
PhylomeDBQ6ZMG9.
TreeFamTF314319.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

BgeeQ6ZMG9.
CleanExHS_LASS6.
GenevestigatorQ6ZMG9.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR016439. Longevity_assurance_LAG1_LAC1.
IPR006634. TLC-dom.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
PF03798. TRAM_LAG1_CLN8. 1 hit.
[Graphical view]
PIRSFPIRSF005225. LAG1_LAC1. 1 hit.
SMARTSM00389. HOX. 1 hit.
SM00724. TLC. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS50071. HOMEOBOX_2. 1 hit.
PS50922. TLC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCERS6. human.
GenomeRNAi253782.
NextBio92167.
PROQ6ZMG9.
SOURCESearch...

Entry information

Entry nameCERS6_HUMAN
AccessionPrimary (citable) accession number: Q6ZMG9
Secondary accession number(s): Q32M63, Q8N617
Entry history
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: July 5, 2004
Last modified: July 9, 2014
This is version 104 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM