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Q8TDN7

- ACER1_HUMAN

UniProt

Q8TDN7 - ACER1_HUMAN

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Protein

Alkaline ceramidase 1

Gene

ACER1

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

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2727LumenalSequence AnalysisAdd
BLAST
Transmembranei28 – 4821HelicalSequence AnalysisAdd
BLAST
Topological domaini49 – 579CytoplasmicSequence Analysis
Transmembranei58 – 7821HelicalSequence AnalysisAdd
BLAST
Topological domaini79 – 813LumenalSequence Analysis
Transmembranei82 – 10221HelicalSequence AnalysisAdd
BLAST
Topological domaini103 – 11917CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei120 – 13718HelicalSequence AnalysisAdd
BLAST
Topological domaini138 – 1381LumenalSequence Analysis
Transmembranei139 – 15921HelicalSequence AnalysisAdd
BLAST
Topological domaini160 – 17617CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei177 – 19721HelicalSequence AnalysisAdd
BLAST
Topological domaini198 – 2069LumenalSequence Analysis
Transmembranei207 – 22721HelicalSequence AnalysisAdd
BLAST
Topological domaini228 – 26437CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

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

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...

Family & Domainsi

Sequence similaritiesi

Belongs to the alkaline ceramidase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG323012.
GeneTreeiENSGT00730000110920.
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

        10         20         30         40         50
MPSIFAYQSS EVDWCESNFQ YSELVAEFYN TFSNIPFFIF GPLMMLLMHP
60 70 80 90 100
YAQKRSRYIY VVWVLFMIIG LFSMYFHMTL SFLGQLLDEI AILWLLGSGY
110 120 130 140 150
SIWMPRCYFP SFLGGNRSQF IRLVFITTVV STLLSFLRPT VNAYALNSIA
160 170 180 190 200
LHILYIVCQE YRKTSNKELR HLIEVSVVLW AVALTSWISD RLLCSFWQRI
210 220 230 240 250
HFFYLHSIWH VLISITFPYG MVTMALVDAN YEMPGETLKV RYWPRDSWPV
260
GLPYVEIRGD DKDC
Length:264
Mass (Da):31,095
Last modified:June 1, 2002 - v1
Checksum:iE16E5DB81D064F60
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00730000110920.
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

ChiTaRSi ACER1. human.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 89 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