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ACER1 alkaline ceramidase 1 [ Homo sapiens (human) ]

Gene ID: 125981, updated on 2-Nov-2024

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
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Genomic context

See ACER1 in Genome Data Viewer
Location:
19p13.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (6306142..6360368, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (6294362..6349269, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (6306153..6333623, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372255 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:6135546-6136448 Neighboring gene acyl-CoA synthetase bubblegum family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6198732-6199335 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr19:6199336-6199938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13821 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13822 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:6216753-6217667 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6227079-6227744 Neighboring gene Sharpr-MPRA regulatory region 3427 Neighboring gene MLLT1 super elongation complex subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6239861-6240362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6243510-6244224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6263043-6263544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6263545-6264044 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:6273107-6273706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6276605-6277105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9947 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:6362217-6363174 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:6372537-6373459 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 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

Clone Names

  • MGC138327, MGC138329

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N-acylsphingosine amidohydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables N-acylsphingosine amidohydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables N-acylsphingosine amidohydrolase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables N-acylsphingosine amidohydrolase activity TAS
Traceable Author Statement
more info
 
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

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
XP_054175722.1

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.

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:3255
    Ceramidase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    6294362..6349269 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319747.1XP_054175722.1  alkaline ceramidase 1 isoform X1