ACER1 alkaline ceramidase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACER1provided by HGNC
Official Full Name: alkaline ceramidase 1provided by HGNC
Primary source: HGNC:HGNC:18356
See related: Ensembl:ENSG00000167769 MIM:613491; AllianceGenome:HGNC:18356
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ASAH3; ALKCDase1
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 signals and induce apoptosis, and the ceramide metabolites sphingosine and sphingosine-1-phosphate (S1P) are important bioregulatory molecules. Ceramide hydrolysis in the nucleated cell layers regulates keratinocyte proliferation and apoptosis in response to external stress. Ceramide hydrolysis also occurs at the stratum corneum, releasing free sphingoid base that functions as an endogenous antimicrobial agent. ACER1 is highly expressed in epidermis and catalyzes the hydrolysis of very long chain ceramides to generate sphingosine (Houben et al., 2006 [PubMed 16477081]; Sun et al., 2008 [PubMed 17713573]).[supplied by OMIM, Jul 2010]
Expression: Biased expression in skin (RPKM 20.7) and esophagus (RPKM 4.2) See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (6306142..6360368, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (6294362..6349269, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (6306153..6333623, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

upregulation of haCER1 and AC mediates the Ca2+(o)-induced growth arrest and differentiation of keratinocytes by generating sphingosine and its phosphate
Title: Upregulation of the human alkaline ceramidase 1 and acid ceramidase mediates calcium-induced differentiation of epidermal keratinocytes.
regulates the signaling system mediated by sphingolipids
Title: [Molecular evolution of neutral ceramidase: signalling molecule and virulence factor].

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:480818

NoName (e-PCR)
- UniSTS:490191

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables N-acylsphingosine amidohydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables N-acylsphingosine amidohydrolase activity	TAS Traceable Author Statement more info
enables ceramidase activity	IEA Inferred from Electronic Annotation more info
enables dihydroceramidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables dihydroceramidase activity	IDA Inferred from Direct Assay more info	PubMed
enables dihydroceramidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to calcium ion	IDA Inferred from Direct Assay more info	PubMed
involved_in ceramide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ceramide catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ceramide catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in epidermis development	IEP Inferred from Expression Pattern more info	PubMed
involved_in keratinocyte differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in regulation of lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in response to alkaline pH	IDA Inferred from Direct Assay more info	PubMed
involved_in sebaceous gland development	IEA Inferred from Electronic Annotation more info
involved_in sphingolipid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in sphingolipid catabolic process	TAS Traceable Author Statement more info
involved_in sphingolipid metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in sphingosine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in sphingosine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in sphingosine biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: alkaline ceramidase 1

Names: CTB-180A7.3; N-acylsphingosine amidohydrolase (alkaline ceramidase) 3; N-acylsphingosine amidohydrolase 3; acylsphingosine deacylase 3; alkCDase 1; alkaline CDase 1

NP_597999.1

EC 3.5.1.23

XP_011525975.1

EC 3.5.1.23

XP_054175722.1

EC 3.5.1.23

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.