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Q8TDN7 (ACER1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 85. 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·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Alkaline ceramidase 1

Short name=AlkCDase 1
Short name=Alkaline CDase 1
EC=3.5.1.23
Alternative name(s):
Acylsphingosine deacylase 3
N-acylsphingosine amidohydrolase 3
Gene names
Name:ACER1
Synonyms:ASAH3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length264 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid at an optimal pH of 8.0. Has a highly restricted substrate specificity for the natural stereoisomer of ceramide with D-erythro-sphingosine but not D-ribo-phytosphingosine or D-erythro-dihydrosphingosine as a backbone. May have a role in regulating the levels of bioactive lipids ceramide and sphingosine 1-phosphate, as well as complex sphingolipids By similarity.

Catalytic activity

N-acylsphingosine + H2O = a carboxylate + sphingosine.

Enzyme regulation

Inhibited by sphingosine By similarity.

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein By similarity.

Tissue specificity

Mainly expressed in epidermis. Ref.3

Sequence similarities

Belongs to the alkaline ceramidase family.

Ontologies

Keywords
   Biological processLipid metabolism
   Cellular componentEndoplasmic reticulum
Membrane
   DomainTransmembrane
Transmembrane helix
   Molecular functionHydrolase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell differentiation

Inferred from mutant phenotype PubMed 17713573. Source: BHF-UCL

cellular response to calcium ion

Inferred from direct assay PubMed 17713573. Source: BHF-UCL

ceramide catabolic process

Inferred from sequence or structural similarity. Source: BHF-UCL

epidermis development

Inferred from expression pattern Ref.3. Source: BHF-UCL

keratinocyte differentiation

Inferred from expression pattern Ref.3. Source: BHF-UCL

regulation of lipid metabolic process

Inferred from electronic annotation. Source: Ensembl

response to alkalinity

Inferred from direct assay PubMed 17713573. Source: BHF-UCL

small molecule metabolic process

Traceable author statement. Source: Reactome

sphingolipid biosynthetic process

Inferred from direct assay PubMed 17713573. Source: BHF-UCL

sphingolipid metabolic process

Inferred from sequence or structural similarity. Source: BHF-UCL

sphingosine biosynthetic process

Inferred from direct assay PubMed 17713573PubMed 20628055. Source: BHF-UCL

   Cellular_componentendoplasmic reticulum

Inferred from direct assay PubMed 17713573. Source: BHF-UCL

endoplasmic reticulum membrane

Traceable author statement. Source: Reactome

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionceramidase activity

Inferred from direct assay PubMed 17713573. Source: BHF-UCL

dihydroceramidase activity

Inferred from direct assay PubMed 20628055. Source: BHF-UCL

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 264264Alkaline ceramidase 1
PRO_0000247745

Regions

Topological domain1 – 2727Lumenal Potential
Transmembrane28 – 4821Helical; Potential
Topological domain49 – 579Cytoplasmic Potential
Transmembrane58 – 7821Helical; Potential
Topological domain79 – 813Lumenal Potential
Transmembrane82 – 10221Helical; Potential
Topological domain103 – 11917Cytoplasmic Potential
Transmembrane120 – 13718Helical; Potential
Topological domain1381Lumenal Potential
Transmembrane139 – 15921Helical; Potential
Topological domain160 – 17617Cytoplasmic Potential
Transmembrane177 – 19721Helical; Potential
Topological domain198 – 2069Lumenal Potential
Transmembrane207 – 22721Helical; Potential
Topological domain228 – 26437Cytoplasmic Potential

Sequences

Sequence LengthMass (Da)Tools
Q8TDN7 [UniParc].

Last modified June 1, 2002. Version 1.
Checksum: E16E5DB81D064F60

FASTA26431,095
        10         20         30         40         50         60 
MPSIFAYQSS EVDWCESNFQ YSELVAEFYN TFSNIPFFIF GPLMMLLMHP YAQKRSRYIY 

        70         80         90        100        110        120 
VVWVLFMIIG LFSMYFHMTL SFLGQLLDEI AILWLLGSGY SIWMPRCYFP SFLGGNRSQF 

       130        140        150        160        170        180 
IRLVFITTVV STLLSFLRPT VNAYALNSIA LHILYIVCQE YRKTSNKELR HLIEVSVVLW 

       190        200        210        220        230        240 
AVALTSWISD RLLCSFWQRI HFFYLHSIWH VLISITFPYG MVTMALVDAN YEMPGETLKV 

       250        260 
RYWPRDSWPV GLPYVEIRGD DKDC 

« Hide

References

« Hide 'large scale' references
[1]"Cloning and characterization of a mouse endoplasmic reticulum alkaline ceramidase: an enzyme that preferentially regulates metabolism of very long chain ceramides."
Mao C., Xu R., Szulc Z.M., Bielawski J., Becker K.P., Bielawska A., Galadari S.H., Hu W., Obeid L.M.
J. Biol. Chem. 278:31184-31191(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"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].
[3]"Differentiation-associated expression of ceramidase isoforms in cultured keratinocytes and epidermis."
Houben E., Holleran W.M., Yaginuma T., Mao C., Obeid L.M., Rogiers V., Takagi Y., Elias P.M., Uchida Y.
J. Lipid Res. 47:1063-1070(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF347024 mRNA. Translation: AAL83822.1.
BC112122 mRNA. Translation: AAI12123.1.
BC112124 mRNA. Translation: AAI12125.1.
CCDSCCDS12161.1.
RefSeqNP_597999.1. NM_133492.2.
UniGeneHs.352609.

3D structure databases

ProteinModelPortalQ8TDN7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000301452.

Polymorphism databases

DMDM74715919.

Proteomic databases

PRIDEQ8TDN7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000301452; ENSP00000301452; ENSG00000167769.
GeneID125981.
KEGGhsa:125981.
UCSCuc002mel.2. human.

Organism-specific databases

CTD125981.
GeneCardsGC19M006261.
HGNCHGNC:18356. ACER1.
HPAHPA042506.
MIM613491. gene.
neXtProtNX_Q8TDN7.
PharmGKBPA164714838.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG323012.
HOGENOMHOG000220878.
InParanoidQ8TDN7.
KOK01441.
OMAFQYSELV.
OrthoDBEOG7F5127.
PhylomeDBQ8TDN7.
TreeFamTF313019.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

BgeeQ8TDN7.
CleanExHS_ACER1.
GenevestigatorQ8TDN7.

Family and domain databases

InterProIPR008901. Ceramidase.
[Graphical view]
PfamPF05875. Ceramidase. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiACER1.
GenomeRNAi125981.
NextBio81606.
PROQ8TDN7.
SOURCESearch...

Entry information

Entry nameACER1_HUMAN
AccessionPrimary (citable) accession number: Q8TDN7
Entry history
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: June 1, 2002
Last modified: July 9, 2014
This is version 85 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 19

Human chromosome 19: entries, gene names and cross-references to MIM