Format

Send to:

Choose Destination

ACER1 alkaline ceramidase 1 [ Homo sapiens (human) ]

Gene ID: 125981, updated on 7-Jun-2020

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
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

Genomic context

See ACER1 in Genome Data Viewer
Location:
19p13.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (6306142..6360368, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (6306510..6333640, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372255 Neighboring gene acyl-CoA synthetase bubblegum family member 2 Neighboring gene MLLT1 super elongation complex subunit Neighboring gene caseinolytic mitochondrial matrix peptidase proteolytic subunit Neighboring gene alkB homolog 7 Neighboring gene persephin

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138327, MGC138329

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-acylsphingosine amidohydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
N-acylsphingosine amidohydrolase activity TAS
Traceable Author Statement
more info
 
ceramidase activity IEA
Inferred from Electronic Annotation
more info
 
dihydroceramidase activity IDA
Inferred from Direct Assay
more info
PubMed 
dihydroceramidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to calcium ion IDA
Inferred from Direct Assay
more info
PubMed 
ceramide catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
ceramide catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
epidermis development IEP
Inferred from Expression Pattern
more info
PubMed 
keratinocyte differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
regulation of lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of water loss via skin IEA
Inferred from Electronic Annotation
more info
 
response to alkaline pH IDA
Inferred from Direct Assay
more info
PubMed 
sebaceous gland development IEA
Inferred from Electronic Annotation
more info
 
sphingolipid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
sphingolipid biosynthetic process TAS
Traceable Author Statement
more info
 
sphingolipid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
sphingosine biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
sphingosine biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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
XP_011525975.1

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_133492.3NP_597999.1  alkaline ceramidase 1

    See identical proteins and their annotated locations for NP_597999.1

    Status: VALIDATED

    Source sequence(s)
    AC114268, BC112122, CU449837
    Consensus CDS
    CCDS12161.1
    UniProtKB/Swiss-Prot
    Q8TDN7
    Related
    ENSP00000301452.3, ENST00000301452.5
    Conserved Domains (1) summary
    pfam05875
    Location:3250
    Ceramidase; Ceramidase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    6306142..6360368 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527673.3XP_011525975.1  alkaline ceramidase 1 isoform X1

    Conserved Domains (1) summary
    pfam05875
    Location:1212
    Ceramidase; Ceramidase
Support Center