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Q8TDN7

- ACER1_HUMAN

UniProt

Q8TDN7 - ACER1_HUMAN

Protein

Alkaline ceramidase 1

Gene

ACER1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 87 (01 Oct 2014)
      Sequence version 1 (01 Jun 2002)
      Previous versions | rss
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    Functioni

    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.By similarity

    Catalytic activityi

    N-acylsphingosine + H2O = a carboxylate + sphingosine.

    Enzyme regulationi

    Inhibited by sphingosine.By similarity

    GO - Molecular functioni

    1. ceramidase activity Source: BHF-UCL
    2. dihydroceramidase activity Source: BHF-UCL

    GO - Biological processi

    1. cell differentiation Source: BHF-UCL
    2. cellular response to calcium ion Source: BHF-UCL
    3. ceramide catabolic process Source: BHF-UCL
    4. epidermis development Source: BHF-UCL
    5. keratinocyte differentiation Source: BHF-UCL
    6. regulation of lipid metabolic process Source: Ensembl
    7. response to alkaline pH Source: BHF-UCL
    8. small molecule metabolic process Source: Reactome
    9. sphingolipid biosynthetic process Source: BHF-UCL
    10. sphingolipid metabolic process Source: BHF-UCL
    11. sphingosine biosynthetic process Source: BHF-UCL

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Biological processi

    Lipid metabolism

    Enzyme and pathway databases

    ReactomeiREACT_115810. Sphingolipid de novo biosynthesis.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Alkaline ceramidase 1 (EC:3.5.1.23)
    Short name:
    AlkCDase 1
    Short name:
    Alkaline CDase 1
    Alternative name(s):
    Acylsphingosine deacylase 3
    N-acylsphingosine amidohydrolase 3
    Gene namesi
    Name:ACER1
    Synonyms:ASAH3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:18356. ACER1.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum Source: BHF-UCL
    2. endoplasmic reticulum membrane Source: Reactome
    3. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA164714838.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 264264Alkaline ceramidase 1PRO_0000247745Add
    BLAST

    Proteomic databases

    PRIDEiQ8TDN7.

    Expressioni

    Tissue specificityi

    Mainly expressed in epidermis.1 Publication

    Gene expression databases

    BgeeiQ8TDN7.
    CleanExiHS_ACER1.
    GenevestigatoriQ8TDN7.

    Organism-specific databases

    HPAiHPA042506.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000301452.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TDN7.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2727LumenalSequence AnalysisAdd
    BLAST
    Topological domaini49 – 579CytoplasmicSequence Analysis
    Topological domaini79 – 813LumenalSequence Analysis
    Topological domaini103 – 11917CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini138 – 1381LumenalSequence Analysis
    Topological domaini160 – 17617CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini198 – 2069LumenalSequence Analysis
    Topological domaini228 – 26437CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei28 – 4821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei58 – 7821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei82 – 10221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei120 – 13718HelicalSequence AnalysisAdd
    BLAST
    Transmembranei139 – 15921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei177 – 19721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei207 – 22721HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the alkaline ceramidase family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG323012.
    HOGENOMiHOG000220878.
    InParanoidiQ8TDN7.
    KOiK01441.
    OMAiFQYSELV.
    OrthoDBiEOG7F5127.
    PhylomeDBiQ8TDN7.
    TreeFamiTF313019.

    Family and domain databases

    InterProiIPR008901. Ceramidase.
    [Graphical view]
    PfamiPF05875. Ceramidase. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q8TDN7-1 [UniParc]FASTAAdd to Basket

    « Hide

    MPSIFAYQSS EVDWCESNFQ YSELVAEFYN TFSNIPFFIF GPLMMLLMHP    50
    YAQKRSRYIY VVWVLFMIIG LFSMYFHMTL SFLGQLLDEI AILWLLGSGY 100
    SIWMPRCYFP SFLGGNRSQF IRLVFITTVV STLLSFLRPT VNAYALNSIA 150
    LHILYIVCQE YRKTSNKELR HLIEVSVVLW AVALTSWISD RLLCSFWQRI 200
    HFFYLHSIWH VLISITFPYG MVTMALVDAN YEMPGETLKV RYWPRDSWPV 250
    GLPYVEIRGD DKDC 264
    Length:264
    Mass (Da):31,095
    Last modified:June 1, 2002 - v1
    Checksum:iE16E5DB81D064F60
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF347024 mRNA. Translation: AAL83822.1.
    BC112122 mRNA. Translation: AAI12123.1.
    BC112124 mRNA. Translation: AAI12125.1.
    CCDSiCCDS12161.1.
    RefSeqiNP_597999.1. NM_133492.2.
    UniGeneiHs.352609.

    Genome annotation databases

    EnsembliENST00000301452; ENSP00000301452; ENSG00000167769.
    GeneIDi125981.
    KEGGihsa:125981.
    UCSCiuc002mel.2. human.

    Polymorphism databases

    DMDMi74715919.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF347024 mRNA. Translation: AAL83822.1 .
    BC112122 mRNA. Translation: AAI12123.1 .
    BC112124 mRNA. Translation: AAI12125.1 .
    CCDSi CCDS12161.1.
    RefSeqi NP_597999.1. NM_133492.2.
    UniGenei Hs.352609.

    3D structure databases

    ProteinModelPortali Q8TDN7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000301452.

    Polymorphism databases

    DMDMi 74715919.

    Proteomic databases

    PRIDEi Q8TDN7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000301452 ; ENSP00000301452 ; ENSG00000167769 .
    GeneIDi 125981.
    KEGGi hsa:125981.
    UCSCi uc002mel.2. human.

    Organism-specific databases

    CTDi 125981.
    GeneCardsi GC19M006261.
    HGNCi HGNC:18356. ACER1.
    HPAi HPA042506.
    MIMi 613491. gene.
    neXtProti NX_Q8TDN7.
    PharmGKBi PA164714838.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG323012.
    HOGENOMi HOG000220878.
    InParanoidi Q8TDN7.
    KOi K01441.
    OMAi FQYSELV.
    OrthoDBi EOG7F5127.
    PhylomeDBi Q8TDN7.
    TreeFami TF313019.

    Enzyme and pathway databases

    Reactomei REACT_115810. Sphingolipid de novo biosynthesis.

    Miscellaneous databases

    GeneWikii ACER1.
    GenomeRNAii 125981.
    NextBioi 81606.
    PROi Q8TDN7.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8TDN7.
    CleanExi HS_ACER1.
    Genevestigatori Q8TDN7.

    Family and domain databases

    InterProi IPR008901. Ceramidase.
    [Graphical view ]
    Pfami PF05875. Ceramidase. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.

    Entry informationi

    Entry nameiACER1_HUMAN
    AccessioniPrimary (citable) accession number: Q8TDN7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 25, 2006
    Last sequence update: June 1, 2002
    Last modified: October 1, 2014
    This is version 87 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 19
      Human chromosome 19: 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