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Protein

Ceramide synthase 6

Gene

CERS6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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)DescriptionActionsGraphical viewLength
DNA bindingi66 – 127HomeoboxPROSITE-ProRule annotationAdd BLAST62

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Lipid biosynthesis, Lipid metabolism

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BRENDAi2.3.1.24. 2681.
ReactomeiR-HSA-1660661. Sphingolipid de novo biosynthesis.

Chemistry databases

SwissLipidsiSLP:000000700.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:23826. CERS6.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 34LumenalSequence analysisAdd BLAST34
Transmembranei35 – 55HelicalSequence analysisAdd BLAST21
Topological domaini56 – 177CytoplasmicSequence analysisAdd BLAST122
Transmembranei178 – 198HelicalSequence analysisAdd BLAST21
Topological domaini199 – 204LumenalSequence analysis6
Transmembranei205 – 225HelicalSequence analysisAdd BLAST21
Topological domaini226 – 262CytoplasmicSequence analysisAdd BLAST37
Transmembranei263 – 283HelicalSequence analysisAdd BLAST21
Topological domaini284 – 302LumenalSequence analysisAdd BLAST19
Transmembranei303 – 323HelicalSequence analysisAdd BLAST21
Topological domaini324 – 384CytoplasmicSequence analysisAdd BLAST61

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi253782.
OpenTargetsiENSG00000172292.
PharmGKBiPA134925480.

Polymorphism and mutation databases

BioMutaiCERS6.
DMDMi51316251.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001855161 – 384Ceramide synthase 6Add BLAST384

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi18N-linked (GlcNAc...)1 Publication1

Post-translational modificationi

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

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ6ZMG9.
MaxQBiQ6ZMG9.
PaxDbiQ6ZMG9.
PeptideAtlasiQ6ZMG9.
PRIDEiQ6ZMG9.

PTM databases

iPTMnetiQ6ZMG9.
PhosphoSitePlusiQ6ZMG9.
SwissPalmiQ6ZMG9.

Expressioni

Gene expression databases

BgeeiENSG00000172292.
CleanExiHS_LASS6.
GenevisibleiQ6ZMG9. HS.

Organism-specific databases

HPAiHPA044683.
HPA063527.

Interactioni

Protein-protein interaction databases

BioGridi128987. 17 interactors.
STRINGi9606.ENSP00000306579.

Structurei

3D structure databases

ProteinModelPortaliQ6ZMG9.
SMRiQ6ZMG9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini130 – 331TLCPROSITE-ProRule annotationAdd BLAST202

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

eggNOGiKOG1607. Eukaryota.
COG5058. LUCA.
GeneTreeiENSGT00550000074401.
HOGENOMiHOG000231977.
HOVERGENiHBG052310.
InParanoidiQ6ZMG9.
KOiK04710.
OMAiFAMFAIL.
OrthoDBiEOG091G0BWM.
PhylomeDBiQ6ZMG9.
TreeFamiTF314319.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR016439. Lag1/Lac1.
IPR006634. TLC-dom.
[Graphical view]
PANTHERiPTHR12560. PTHR12560. 1 hit.
PfamiPF00046. Homeobox. 1 hit.
PF03798. TRAM_LAG1_CLN8. 1 hit.
[Graphical view]
PIRSFiPIRSF005225. LAG1_LAC1. 1 hit.
SMARTiSM00724. 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. AlignAdd to basket

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

Sequence cautioni

The sequence AAH30800 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_045162334K → KAGKWNPLH in isoform 2. 1 Publication1

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.3. human. [Q6ZMG9-1]

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.
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.

3D structure databases

ProteinModelPortaliQ6ZMG9.
SMRiQ6ZMG9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128987. 17 interactors.
STRINGi9606.ENSP00000306579.

Chemistry databases

SwissLipidsiSLP:000000700.

PTM databases

iPTMnetiQ6ZMG9.
PhosphoSitePlusiQ6ZMG9.
SwissPalmiQ6ZMG9.

Polymorphism and mutation databases

BioMutaiCERS6.
DMDMi51316251.

Proteomic databases

EPDiQ6ZMG9.
MaxQBiQ6ZMG9.
PaxDbiQ6ZMG9.
PeptideAtlasiQ6ZMG9.
PRIDEiQ6ZMG9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000305747; ENSP00000306579; ENSG00000172292. [Q6ZMG9-1]
ENST00000392687; ENSP00000376453; ENSG00000172292. [Q6ZMG9-2]
GeneIDi253782.
KEGGihsa:253782.
UCSCiuc002ueb.3. human. [Q6ZMG9-1]

Organism-specific databases

CTDi253782.
DisGeNETi253782.
GeneCardsiCERS6.
HGNCiHGNC:23826. CERS6.
HPAiHPA044683.
HPA063527.
MIMi615336. gene.
neXtProtiNX_Q6ZMG9.
OpenTargetsiENSG00000172292.
PharmGKBiPA134925480.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1607. Eukaryota.
COG5058. LUCA.
GeneTreeiENSGT00550000074401.
HOGENOMiHOG000231977.
HOVERGENiHBG052310.
InParanoidiQ6ZMG9.
KOiK04710.
OMAiFAMFAIL.
OrthoDBiEOG091G0BWM.
PhylomeDBiQ6ZMG9.
TreeFamiTF314319.

Enzyme and pathway databases

BRENDAi2.3.1.24. 2681.
ReactomeiR-HSA-1660661. Sphingolipid de novo biosynthesis.

Miscellaneous databases

ChiTaRSiCERS6. human.
GenomeRNAii253782.
PROiQ6ZMG9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000172292.
CleanExiHS_LASS6.
GenevisibleiQ6ZMG9. HS.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR016439. Lag1/Lac1.
IPR006634. TLC-dom.
[Graphical view]
PANTHERiPTHR12560. PTHR12560. 1 hit.
PfamiPF00046. Homeobox. 1 hit.
PF03798. TRAM_LAG1_CLN8. 1 hit.
[Graphical view]
PIRSFiPIRSF005225. LAG1_LAC1. 1 hit.
SMARTiSM00724. TLC. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS50071. HOMEOBOX_2. 1 hit.
PS50922. TLC. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 2, 2016
This is version 127 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.