Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Ceramide synthase 2

Gene

CERS2

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

Functioni

Suppresses the growth of cancer cells. May be involved in sphingolipid synthesis.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi67 – 128HomeoboxPROSITE-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:000000256.

Names & Taxonomyi

Protein namesi
Recommended name:
Ceramide synthase 2
Short name:
CerS2
Alternative name(s):
LAG1 longevity assurance homolog 2
SP260
Tumor metastasis-suppressor gene 1 protein
Gene namesi
Name:CERS2
Synonyms:LASS2, TMSG1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:14076. CERS2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 40LumenalSequence analysisAdd BLAST40
Transmembranei41 – 61HelicalSequence analysisAdd BLAST21
Topological domaini62 – 139CytoplasmicSequence analysisAdd BLAST78
Transmembranei140 – 160HelicalSequence analysisAdd BLAST21
Topological domaini161 – 180LumenalSequence analysisAdd BLAST20
Transmembranei181 – 201HelicalSequence analysisAdd BLAST21
Topological domaini202 – 208CytoplasmicSequence analysis7
Transmembranei209 – 229HelicalSequence analysisAdd BLAST21
Topological domaini230 – 263LumenalSequence analysisAdd BLAST34
Transmembranei264 – 284HelicalSequence analysisAdd BLAST21
Topological domaini285 – 303CytoplasmicSequence analysisAdd BLAST19
Transmembranei304 – 324HelicalSequence analysisAdd BLAST21
Topological domaini325 – 380LumenalSequence analysisAdd BLAST56

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi29956.
OpenTargetsiENSG00000143418.
PharmGKBiPA30300.

Polymorphism and mutation databases

BioMutaiCERS2.
DMDMi51316514.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001855091 – 380Ceramide synthase 2Add BLAST380

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi19N-linked (GlcNAc...)2 Publications1
Modified residuei341PhosphoserineCombined sources1
Modified residuei346PhosphothreonineCombined sources1
Modified residuei348PhosphoserineCombined sources1
Modified residuei349PhosphoserineCombined sources1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ96G23.
MaxQBiQ96G23.
PaxDbiQ96G23.
PeptideAtlasiQ96G23.
PRIDEiQ96G23.

PTM databases

iPTMnetiQ96G23.
PhosphoSitePlusiQ96G23.
SwissPalmiQ96G23.

Expressioni

Tissue specificityi

Expressed in kidney, liver, brain, heart, placenta and lung.1 Publication

Gene expression databases

BgeeiENSG00000143418.
CleanExiHS_LASS2.
ExpressionAtlasiQ96G23. baseline and differential.
GenevisibleiQ96G23. HS.

Organism-specific databases

HPAiHPA027262.

Interactioni

Subunit structurei

Interacts with ATP6V0C, ASGR1, ASGR2 and SLC22A1/OCT1. Interacts with ELOV1, HSD17B12 and TECR.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ASGR1P073063EBI-1057080,EBI-1172335
ASGR2P073073EBI-1057080,EBI-1172636
ATP6V0CP274493EBI-1057080,EBI-721179
HSP90AA1P079002EBI-1057080,EBI-296047
SLC22A1O152453EBI-1057080,EBI-1172714

Protein-protein interaction databases

BioGridi118992. 40 interactors.
IntActiQ96G23. 24 interactors.
STRINGi9606.ENSP00000271688.

Structurei

3D structure databases

ProteinModelPortaliQ96G23.
SMRiQ96G23.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini131 – 332TLCPROSITE-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.
HOVERGENiHBG052310.
InParanoidiQ96G23.
KOiK04710.
OMAiGKQPKQA.
OrthoDBiEOG091G0BWM.
PhylomeDBiQ96G23.
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]

Sequencei

Sequence statusi: Complete.

Q96G23-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLQTLYDYFW WERLWLPVNL TWADLEDRDG RVYAKASDLY ITLPLALLFL
60 70 80 90 100
IVRYFFELYV ATPLAALLNI KEKTRLRAPP NATLEHFYLT SGKQPKQVEV
110 120 130 140 150
ELLSRQSGLS GRQVERWFRR RRNQDRPSLL KKFREASWRF TFYLIAFIAG
160 170 180 190 200
MAVIVDKPWF YDMKKVWEGY PIQSTIPSQY WYYMIELSFY WSLLFSIASD
210 220 230 240 250
VKRKDFKEQI IHHVATIILI SFSWFANYIR AGTLIMALHD SSDYLLESAK
260 270 280 290 300
MFNYAGWKNT CNNIFIVFAI VFIITRLVIL PFWILHCTLV YPLELYPAFF
310 320 330 340 350
GYYFFNSMMG VLQLLHIFWA YLILRMAHKF ITGKLVEDER SDREETESSE
360 370 380
GEEAAAGGGA KSRPLANGHP ILNNNHRKND
Length:380
Mass (Da):44,876
Last modified:December 1, 2001 - v1
Checksum:iC8CEAF6AAD0B4577
GO

Sequence cautioni

The sequence BAA91505 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti154I → T in AAF01058 (Ref. 8) Curated1
Sequence conflicti345E → V in AAF01058 (Ref. 8) Curated1
Sequence conflicti353E → K in AAF01058 (Ref. 8) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_052325115E → A.Corresponds to variant rs267738dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS973.1.
RefSeqiNP_071358.1. NM_022075.4.
NP_859530.1. NM_181746.3.
XP_011507754.1. XM_011509452.2.
UniGeneiHs.744017.

Genome annotation databases

EnsembliENST00000271688; ENSP00000271688; ENSG00000143418.
ENST00000368954; ENSP00000357950; ENSG00000143418.
GeneIDi29956.
KEGGihsa:29956.
UCSCiuc001evy.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS973.1.
RefSeqiNP_071358.1. NM_022075.4.
NP_859530.1. NM_181746.3.
XP_011507754.1. XM_011509452.2.
UniGeneiHs.744017.

3D structure databases

ProteinModelPortaliQ96G23.
SMRiQ96G23.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118992. 40 interactors.
IntActiQ96G23. 24 interactors.
STRINGi9606.ENSP00000271688.

Chemistry databases

SwissLipidsiSLP:000000256.

PTM databases

iPTMnetiQ96G23.
PhosphoSitePlusiQ96G23.
SwissPalmiQ96G23.

Polymorphism and mutation databases

BioMutaiCERS2.
DMDMi51316514.

Proteomic databases

EPDiQ96G23.
MaxQBiQ96G23.
PaxDbiQ96G23.
PeptideAtlasiQ96G23.
PRIDEiQ96G23.

Protocols and materials databases

DNASUi29956.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000271688; ENSP00000271688; ENSG00000143418.
ENST00000368954; ENSP00000357950; ENSG00000143418.
GeneIDi29956.
KEGGihsa:29956.
UCSCiuc001evy.3. human.

Organism-specific databases

CTDi29956.
DisGeNETi29956.
GeneCardsiCERS2.
HGNCiHGNC:14076. CERS2.
HPAiHPA027262.
MIMi606920. gene.
neXtProtiNX_Q96G23.
OpenTargetsiENSG00000143418.
PharmGKBiPA30300.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1607. Eukaryota.
COG5058. LUCA.
GeneTreeiENSGT00550000074401.
HOVERGENiHBG052310.
InParanoidiQ96G23.
KOiK04710.
OMAiGKQPKQA.
OrthoDBiEOG091G0BWM.
PhylomeDBiQ96G23.
TreeFamiTF314319.

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiCERS2. human.
GeneWikiiLASS2.
GenomeRNAii29956.
PROiQ96G23.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000143418.
CleanExiHS_LASS2.
ExpressionAtlasiQ96G23. baseline and differential.
GenevisibleiQ96G23. 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 nameiCERS2_HUMAN
AccessioniPrimary (citable) accession number: Q96G23
Secondary accession number(s): D3DV06
, Q5SZE5, Q9HD96, Q9NW79
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: December 1, 2001
Last modified: November 2, 2016
This is version 148 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 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. 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.