Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	125981
Gene name	Alkaline ceramidase 1
Gene symbol	ACER1
Synonyms (NCBI Gene)	ALKCDase1ASAH3
Chromosome	19
Chromosome location	19p13.3
Summary	Ceramides are synthesized during epidermal differentiation and accumulate within the interstices of the stratum corneum, where they represent critical components of the epidermal permeability barrier. Excess cellular ceramide can trigger antimitogenic sig

Show/Hide all (9)

miRTarBase ID	miRNA	Experiments
MIRT762484	hsa-miR-1207-5p	CLIP-seq
MIRT762485	hsa-miR-1286	CLIP-seq
MIRT762486	hsa-miR-3173-3p	CLIP-seq
MIRT762487	hsa-miR-3714	CLIP-seq
MIRT762488	hsa-miR-4436a	CLIP-seq
MIRT762489	hsa-miR-4436b-3p	CLIP-seq
MIRT762490	hsa-miR-4763-3p	CLIP-seq
MIRT762491	hsa-miR-885-3p	CLIP-seq
MIRT762492	hsa-miR-940	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	17713573
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	ISS
GO:0006672	Process	Ceramide metabolic process	IEA
GO:0008544	Process	Epidermis development	IEP	16477081
GO:0010446	Process	Response to alkaline pH	IDA	17713573
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016811	Function	Hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	IEA
GO:0017040	Function	N-acylsphingosine amidohydrolase activity	IBA
GO:0017040	Function	N-acylsphingosine amidohydrolase activity	IDA	17713573, 20628055
GO:0017040	Function	N-acylsphingosine amidohydrolase activity	IEA
GO:0017040	Function	N-acylsphingosine amidohydrolase activity	IMP	20207939
GO:0017040	Function	N-acylsphingosine amidohydrolase activity	TAS
GO:0019216	Process	Regulation of lipid metabolic process	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	IDA	17713573
GO:0030149	Process	Sphingolipid catabolic process	TAS
GO:0030154	Process	Cell differentiation	IMP	17713573
GO:0030216	Process	Keratinocyte differentiation	IEP	16477081
GO:0046512	Process	Sphingosine biosynthetic process	IBA
GO:0046512	Process	Sphingosine biosynthetic process	IDA	17713573, 20628055
GO:0046512	Process	Sphingosine biosynthetic process	IEA
GO:0046512	Process	Sphingosine biosynthetic process	IMP	20207939
GO:0046514	Process	Ceramide catabolic process	IBA
GO:0046514	Process	Ceramide catabolic process	IEA
GO:0046514	Process	Ceramide catabolic process	IMP	20207939
GO:0046514	Process	Ceramide catabolic process	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048733	Process	Sebaceous gland development	IEA
GO:0071277	Process	Cellular response to calcium ion	IDA	17713573

MIM	HGNC	e!Ensembl
613491	18356	ENSG00000167769

Q8TDN7

Protein name

Alkaline ceramidase 1 (AlkCDase 1) (Alkaline CDase 1) (EC 3.5.1.-) (EC 3.5.1.23) (Acylsphingosine deacylase 3) (N-acylsphingosine amidohydrolase 3)

Protein function

Endoplasmic reticulum ceramidase that catalyzes the hydrolysis of ceramides into sphingosine and free fatty acids at alkaline pH (PubMed:17713573, PubMed:20207939, PubMed:20628055). Ceramides, sphingosine, and its phosphorylated form sphingosine

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05875	Ceramidase	3 → 255	Ceramidase	Family

Tissue specificity

TISSUE SPECIFICITY: Mainly expressed in epidermis. {ECO:0000269|PubMed:16477081, ECO:0000269|PubMed:17713573}.

Sequence

MPSIFAYQSSEVDWCESNFQYSELVAEFYNTFSNIPFFIFGPLMMLLMHPYAQKRSRYIY
VVWVLFMIIGLFSMYFHMTLSFLGQLLDEIAILWLLGSGYSIWMPRCYFPSFLGGNRSQF
IRLVFITTVVSTLLSFLRPTVNAYALNSIALHILYIVCQEYRKTSNKELRHLIEVSVVLW
AVALTSWISDRLLCSFWQRIHFFYLHSIWHVLISITFPYGMVTMALVDANYEMPGETLKV
RYWPRDSWPVGLPYVEIRGDDKDC

Sequence length

264

Interactions

View interactions

	KEGG		Reactome
	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway		Sphingolipid de novo biosynthesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (2)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alopecia	Alopecia	BEFREE	27126290, 29056331		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	36011408	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ACER1 (alkaline ceramidase 1)