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Q6ZMG9

- CERS6_HUMAN

UniProt

Q6ZMG9 - CERS6_HUMAN

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Protein

Ceramide synthase 6

Gene

CERS6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

May be involved in sphingolipid synthesis or its regulation.By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi66 – 12762HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
  2. sphingosine N-acyltransferase activity Source: Ensembl

GO - Biological processi

  1. ceramide biosynthetic process Source: Ensembl
  2. small molecule metabolic process Source: Reactome
  3. sphingolipid biosynthetic process Source: Reactome
  4. sphingolipid metabolic process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Lipid biosynthesis, Lipid metabolism

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_115810. Sphingolipid de novo biosynthesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Ceramide synthase 6
Short name:
CerS6
Alternative name(s):
LAG1 longevity assurance homolog 6
Gene namesi
Name:CERS6
Synonyms:LASS6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:23826. CERS6.

Subcellular locationi

Nucleus membrane PROSITE-ProRule annotation; Multi-pass membrane protein Curated. Endoplasmic reticulum membrane By similarity; Multi-pass membrane protein By similarity

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3434LumenalSequence AnalysisAdd
BLAST
Transmembranei35 – 5521HelicalSequence AnalysisAdd
BLAST
Topological domaini56 – 177122CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei178 – 19821HelicalSequence AnalysisAdd
BLAST
Topological domaini199 – 2046LumenalSequence Analysis
Transmembranei205 – 22521HelicalSequence AnalysisAdd
BLAST
Topological domaini226 – 26237CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei263 – 28321HelicalSequence AnalysisAdd
BLAST
Topological domaini284 – 30219LumenalSequence AnalysisAdd
BLAST
Transmembranei303 – 32321HelicalSequence AnalysisAdd
BLAST
Topological domaini324 – 38461CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: Reactome
  2. integral component of membrane Source: UniProtKB-KW
  3. membrane Source: UniProtKB
  4. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134925480.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 384384Ceramide synthase 6PRO_0000185516Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi18 – 181N-linked (GlcNAc...)1 Publication

Post-translational modificationi

Glycosylation on Asn-18 is not necessary for function.By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ6ZMG9.
PaxDbiQ6ZMG9.
PRIDEiQ6ZMG9.

PTM databases

PhosphoSiteiQ6ZMG9.

Expressioni

Gene expression databases

BgeeiQ6ZMG9.
CleanExiHS_LASS6.
GenevestigatoriQ6ZMG9.

Organism-specific databases

HPAiHPA044683.

Interactioni

Protein-protein interaction databases

BioGridi128987. 10 interactions.
STRINGi9606.ENSP00000306579.

Structurei

3D structure databases

ProteinModelPortaliQ6ZMG9.
SMRiQ6ZMG9. Positions 77-127.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini130 – 331202TLCPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation
Contains 1 TLC (TRAM/LAG1/CLN8) domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG5058.
GeneTreeiENSGT00550000074401.
HOVERGENiHBG052310.
InParanoidiQ6ZMG9.
KOiK04710.
OMAiCIFMIRL.
OrthoDBiEOG7CZK7X.
PhylomeDBiQ6ZMG9.
TreeFamiTF314319.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR016439. Longevity_assurance_LAG1_LAC1.
IPR006634. TLC-dom.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF03798. TRAM_LAG1_CLN8. 1 hit.
[Graphical view]
PIRSFiPIRSF005225. LAG1_LAC1. 1 hit.
SMARTiSM00389. HOX. 1 hit.
SM00724. TLC. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS50071. HOMEOBOX_2. 1 hit.
PS50922. TLC. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q6ZMG9-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MAGILAWFWN ERFWLPHNVT WADLKNTEEA TFPQAEDLYL AFPLAFCIFM
60 70 80 90 100
VRLIFERFVA KPCAIALNIQ ANGPQIAPPN AILEKVFTAI TKHPDEKRLE
110 120 130 140 150
GLSKQLDWDV RSIQRWFRQR RNQEKPSTLT RFCESMWRFS FYLYVFTYGV
160 170 180 190 200
RFLKKTPWLW NTRHCWYNYP YQPLTTDLHY YYILELSFYW SLMFSQFTDI
210 220 230 240 250
KRKDFGIMFL HHLVSIFLIT FSYVNNMARV GTLVLCLHDS ADALLEAAKM
260 270 280 290 300
ANYAKFQKMC DLLFVMFAVV FITTRLGIFP LWVLNTTLFE SWEIVGPYPS
310 320 330 340 350
WWVFNLLLLL VQGLNCFWSY LIVKIACKAV SRGKVSKDDR SDIESSSDEE
360 370 380
DSEPPGKNPH TATTTNGTSG TNGYLLTGSC SMDD
Length:384
Mass (Da):44,890
Last modified:July 5, 2004 - v1
Checksum:iB3C400D6317D9E5E
GO
Isoform 2 (identifier: Q6ZMG9-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:392
Mass (Da):45,794
Checksum:i8977CEFEEA561DE4
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei334 – 3341K → KAGKWNPLH in isoform 2. 1 PublicationVSP_045162

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS2228.1. [Q6ZMG9-1]
CCDS58734.1. [Q6ZMG9-2]
RefSeqiNP_001243055.1. NM_001256126.1. [Q6ZMG9-2]
NP_982288.1. NM_203463.2. [Q6ZMG9-1]
UniGeneiHs.506829.
Hs.743222.

Genome annotation databases

EnsembliENST00000305747; ENSP00000306579; ENSG00000172292. [Q6ZMG9-1]
ENST00000392687; ENSP00000376453; ENSG00000172292. [Q6ZMG9-2]
GeneIDi253782.
KEGGihsa:253782.
UCSCiuc002ueb.2. human. [Q6ZMG9-1]
uc002uec.2. human.

Polymorphism databases

DMDMi51316251.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSi CCDS2228.1. [Q6ZMG9-1 ]
CCDS58734.1. [Q6ZMG9-2 ]
RefSeqi NP_001243055.1. NM_001256126.1. [Q6ZMG9-2 ]
NP_982288.1. NM_203463.2. [Q6ZMG9-1 ]
UniGenei Hs.506829.
Hs.743222.

3D structure databases

ProteinModelPortali Q6ZMG9.
SMRi Q6ZMG9. Positions 77-127.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 128987. 10 interactions.
STRINGi 9606.ENSP00000306579.

PTM databases

PhosphoSitei Q6ZMG9.

Polymorphism databases

DMDMi 51316251.

Proteomic databases

MaxQBi Q6ZMG9.
PaxDbi Q6ZMG9.
PRIDEi Q6ZMG9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000305747 ; ENSP00000306579 ; ENSG00000172292 . [Q6ZMG9-1 ]
ENST00000392687 ; ENSP00000376453 ; ENSG00000172292 . [Q6ZMG9-2 ]
GeneIDi 253782.
KEGGi hsa:253782.
UCSCi uc002ueb.2. human. [Q6ZMG9-1 ]
uc002uec.2. human.

Organism-specific databases

CTDi 253782.
GeneCardsi GC02P169313.
HGNCi HGNC:23826. CERS6.
HPAi HPA044683.
MIMi 615336. gene.
neXtProti NX_Q6ZMG9.
PharmGKBi PA134925480.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5058.
GeneTreei ENSGT00550000074401.
HOVERGENi HBG052310.
InParanoidi Q6ZMG9.
KOi K04710.
OMAi CIFMIRL.
OrthoDBi EOG7CZK7X.
PhylomeDBi Q6ZMG9.
TreeFami TF314319.

Enzyme and pathway databases

Reactomei REACT_115810. Sphingolipid de novo biosynthesis.

Miscellaneous databases

ChiTaRSi CERS6. human.
GenomeRNAii 253782.
NextBioi 92167.
PROi Q6ZMG9.
SOURCEi Search...

Gene expression databases

Bgeei Q6ZMG9.
CleanExi HS_LASS6.
Genevestigatori Q6ZMG9.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR016439. Longevity_assurance_LAG1_LAC1.
IPR006634. TLC-dom.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
PF03798. TRAM_LAG1_CLN8. 1 hit.
[Graphical view ]
PIRSFi PIRSF005225. LAG1_LAC1. 1 hit.
SMARTi SM00389. HOX. 1 hit.
SM00724. TLC. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS50071. HOMEOBOX_2. 1 hit.
PS50922. TLC. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  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] [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.
    , 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.

Entry informationi

Entry nameiCERS6_HUMAN
AccessioniPrimary (citable) accession number: Q6ZMG9
Secondary accession number(s): Q32M63, Q8N617
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: July 5, 2004
Last modified: October 29, 2014
This is version 107 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3