ASAH2 N-acylsphingosine amidohydrolase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ASAH2provided by HGNC
Official Full Name: N-acylsphingosine amidohydrolase 2provided by HGNC
Primary source: HGNC:HGNC:18860
See related: Ensembl:ENSG00000188611 MIM:611202; AllianceGenome:HGNC:18860
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: HNAC1; BCDase; LCDase; NCDase; N-CDase
Summary: Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008]
Expression: Biased expression in duodenum (RPKM 35.9), small intestine (RPKM 31.0) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 10q11.23

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (50184861..50251516, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (51033047..51099700, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (51944621..52011276, complement)

Chromosome 10 - NC_000010.11 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?

Measurement of neutral ceramidase activity in vitro and in vivo.
Title: Measurement of neutral ceramidase activity in vitro and in vivo.
Asah2 Represses the p53-Hmox1 Axis to Protect Myeloid-Derived Suppressor Cells from Ferroptosis.
Title: Asah2 Represses the p53-Hmox1 Axis to Protect Myeloid-Derived Suppressor Cells from Ferroptosis.
Neutral ceramidase: Advances in mechanisms, cell regulation, and roles in cancer.
Title: Neutral ceramidase: Advances in mechanisms, cell regulation, and roles in cancer.
The structural basis for ceramide recognition and hydrolysis by human neutral ceramidase has been uncovered.
Title: Structural Basis for Ceramide Recognition and Hydrolysis by Human Neutral Ceramidase.
These results demonstrate for the first time that adiponectin inhibits TNFalpha-induced inflammatory response via Cav1-mediated ceramidase recruitment and activation in an AdipoR1-dependent fashion.
Title: Adiponectin inhibits tumor necrosis factor-α-induced vascular inflammatory response via caveolin-mediated ceramidase recruitment and activation.
cloned a 3000 bp region upstream of the translational start site of the nCDase gene
Title: Transcriptional regulation of the human neutral ceramidase gene.
c-Jun/AP-1 signaling may, in part, regulate serum-induced nCDase gene transcription
Title: AP-1 binding transcriptionally regulates human neutral ceramidase.
Both acidic ceramidase (aCDase) and neutral ceramidase (nCDase) activities declined after low- and high-UVB, but returned to normal only in low-UVB cells
Title: Hydrolytic pathway protects against ceramide-induced apoptosis in keratinocytes exposed to UVB.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
serine palmitoyltransferase and ceramidase are two major ceramide metabolizing enzymes that may have roles in psoriatic epidermis
Title: A study on altered expression of serine palmitoyltransferase and ceramidase in psoriatic skin lesion.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

ASAH2 (e-PCR)
- UniSTS:509968

D10S1447 (e-PCR)
- UniSTS:54776

D10S225 (e-PCR), detects polymorphism
- UniSTS:3833

G59537 (e-PCR)
- UniSTS:136699

D10S225 (e-PCR), detects polymorphism
- UniSTS:74235

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 calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cellular response to cytokine stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in ceramide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in ceramide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ceramide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ceramide catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in ceramide catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ceramide metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid digestion	ISS Inferred from Sequence or Structural Similarity more info
involved_in long-chain fatty acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sphingosine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in sphingosine biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sphingosine metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in sphingosine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in caveola	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular region	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with membrane raft	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: neutral ceramidase

Names: N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2; acylsphingosine deacylase 2; mitochondrial ceramidase; neutral/alkaline ceramidase; non-lysosomal ceramidase

NP_001137446.1

EC 3.5.1.23

NP_063946.2

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.

mRNA and Protein(s)

NM_001143974.3 → NP_001137446.1 neutral ceramidase isoform b

Status: VALIDATED

Source sequence(s)

AL450382

UniProtKB/TrEMBL

A0A0C4DFQ8

Related

ENSP00000329886.6, ENST00000329428.10

Conserved Domains (3) summary

PTZ00487
Location:100 → 743

PTZ00487; ceramidase; Provisional

pfam04734
Location:102 → 573

Ceramidase_alk; Neutral/alkaline non-lysosomal ceramidase, N-terminal

pfam17048
Location:575 → 742

Ceramidse_alk_C; Neutral/alkaline non-lysosomal ceramidase, C-terminal
NM_019893.4 → NP_063946.2 neutral ceramidase isoform a

See identical proteins and their annotated locations for NP_063946.2

Status: VALIDATED

Source sequence(s)

AL450382

Consensus CDS

CCDS7239.2

UniProtKB/Swiss-Prot

Q3KNU1, Q5SNT7, Q5SZP6, Q5SZP7, Q5T1D5, Q71ME6, Q9NR71

UniProtKB/TrEMBL

A0A0C4DFQ8

Related

ENSP00000506746.1, ENST00000682911.1

Conserved Domains (3) summary

PTZ00487
Location:100 → 778

PTZ00487; ceramidase; Provisional

pfam04734
Location:102 → 608

Ceramidase_alk; Neutral/alkaline non-lysosomal ceramidase, N-terminal

pfam17048
Location:610 → 777

Ceramidse_alk_C; Neutral/alkaline non-lysosomal ceramidase, C-terminal