Reviewed, UniProtKB/Swiss-Prot Q8TDN7 (ACER1_HUMAN)

Names and origin

Protein names

Recommended name:
    Alkaline ceramidase 1
      Short name=Alkaline CDase 1
      Short name=AlkCDase 1
    EC=3.5.1.23
Alternative name(s):
    N-acylsphingosine amidohydrolase 3
    Acylsphingosine deacylase 3

Gene names

Name:	ACER1
Synonyms:	ASAH3

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	264 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Lipid metabolism
Cellular component	Endoplasmic reticulum Membrane
Domain	Transmembrane
Molecular function	Hydrolase
PTM	Glycoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Cellular component	Golgi membrane Inferred from electronic annotation. Source: InterPro endoplasmic reticulum membrane Inferred from Experiment. Source: Reactome integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	ceramidase activity Inferred from Experiment. Source: Reactome
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 264	264	Alkaline ceramidase 1		PRO_0000247745
Regions
	Transmembrane	28 – 48	21	Potential
	Transmembrane	58 – 78	21	Potential
	Transmembrane	82 – 102	21	Potential
	Transmembrane	120 – 137	18	Potential
	Transmembrane	139 – 159	21	Potential
	Transmembrane	177 – 197	21	Potential
	Transmembrane	207 – 227	21	Potential
Amino acid modifications
	Glycosylation	116	1	N-linked (GlcNAc...) Potential

Sequences

	Sequence		Length	Mass (Da)
	Q8TDN7-1 [UniParc]. Last modified June 1, 2002. Version 1. Checksum: E16E5DB81D064F60	FASTA	264	31,095
	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

References

	« Hide 'large scale' referencesShow '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: 12783875] [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: 15489334] [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: 16477081] [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.
IPI	IPI00152570.
RefSeq	NP_597999.1.
UniGene	Hs.352609
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q8TDN7.
Genome annotation databases
Ensembl	ENST00000301452; ENSP00000301452; ENSG00000167769; Homo sapiens. [Genome view]
GeneID	125981.
KEGG	hsa:125981.
UCSC	uc002mel.1. human.
Organism-specific databases
CTD	125981.
GeneCards	GC19M006259.
HGNC	HGNC:18356. ACER1.
PharmGKB	PA134897634.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG04896.
HOGENOM	HBG446871.
HOVERGEN	Q8TDN7.
InParanoid	Q8TDN7.
OMA	FQYSELV.
OrthoDB	EOG9M682S.
PhylomeDB	Q8TDN7.
Enzyme and pathway databases
BRENDA	3.5.1.23. 247.
Reactome	REACT_602. Metabolism of lipids and lipoproteins.
Gene expression databases
ArrayExpress	Q8TDN7.
Bgee	Q8TDN7.
CleanEx	HS_ACER1.
Genevestigator	Q8TDN7.
GermOnline	ENSG00000167769. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other Resources
NextBio	81606.

Entry information

Entry name

ACER1_HUMAN

Accession

Primary (citable) accession number: Q8TDN7

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 25, 2006
Last sequence update:	June 1, 2002
Last modified:	February 9, 2010
This is version 48 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.