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

Gene ID: 56624, updated on 1-Jun-2020

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
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

Genomic context

See ASAH2 in Genome Data Viewer
Location:
10q11.23
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (50184861..50251564, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (51947000..52008370, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene WASH complex subunit 2A Neighboring gene solute carrier family 9 member 3 pseudogene 1 Neighboring gene dynein cytoplasmic 1 intermediate chain 2 pseudogene 1 Neighboring gene sphingomyelin synthase 1 Neighboring gene RNA, U7 small nuclear 107 pseudogene

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?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

General gene information

Markers

Homology

Clone Names

  • MGC129777

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-acylsphingosine amidohydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
N-acylsphingosine amidohydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
N-acylsphingosine amidohydrolase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
ceramidase activity IEA
Inferred from Electronic Annotation
more info
 
dihydroceramidase activity IEA
Inferred from Electronic Annotation
more info
 
phytoceramidase activity IEA
Inferred from Electronic Annotation
more info
 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
cellular response to cytokine stimulus IDA
Inferred from Direct Assay
more info
PubMed 
ceramide biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
ceramide biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
ceramide catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ceramide catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
ceramide catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
ceramide metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
lipid digestion ISS
Inferred from Sequence or Structural Similarity
more info
 
long-chain fatty acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
sphingosine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sphingosine biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
sphingosine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
sphingosine metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
caveola ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with membrane raft ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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
NP_063946.2
XP_011538272.1
XP_011538273.1
XP_011538274.1
XP_011538275.1
XP_016871924.1
XP_016871925.1

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_001143974.2NP_001137446.1  neutral ceramidase isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the internal coding region, compared to variant 1. The resulting isoform (b) is shorter, compared to isoform a.
    Source sequence(s)
    AL450382, N94907
    Consensus CDS
    CCDS44398.1
    UniProtKB/Swiss-Prot
    Q9NR71
    Related
    ENSP00000388206.1, ENST00000447815.5
    Conserved Domains (3) summary
    PTZ00487
    Location:100743
    PTZ00487; ceramidase; Provisional
    pfam04734
    Location:102573
    Ceramidase_alk; Neutral/alkaline non-lysosomal ceramidase, N-terminal
    pfam17048
    Location:575742
    Ceramidse_alk_C; Neutral/alkaline non-lysosomal ceramidase, C-terminal
  2. NM_019893.3NP_063946.2  neutral ceramidase isoform a

    See identical proteins and their annotated locations for NP_063946.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AL450382, N94907
    Consensus CDS
    CCDS7239.2
    UniProtKB/Swiss-Prot
    Q9NR71
    Related
    ENSP00000499688.1, ENST00000656090.1
    Conserved Domains (3) summary
    PTZ00487
    Location:100778
    PTZ00487; ceramidase; Provisional
    pfam04734
    Location:102608
    Ceramidase_alk; Neutral/alkaline non-lysosomal ceramidase, N-terminal
    pfam17048
    Location:610777
    Ceramidse_alk_C; Neutral/alkaline non-lysosomal ceramidase, C-terminal

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_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    50184861..50251564 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539971.2XP_011538273.1  neutral ceramidase isoform X3

    Conserved Domains (3) summary
    PTZ00487
    Location:100729
    PTZ00487; ceramidase; Provisional
    pfam04734
    Location:102608
    Ceramidase_alk; Neutral/alkaline non-lysosomal ceramidase, N-terminal
    pfam17048
    Location:620728
    Ceramidse_alk_C; Neutral/alkaline non-lysosomal ceramidase, C-terminal
  2. XM_017016435.1XP_016871924.1  neutral ceramidase isoform X2

  3. XM_011539972.3XP_011538274.1  neutral ceramidase isoform X4

    Conserved Domains (3) summary
    PTZ00487
    Location:100719
    PTZ00487; ceramidase; Provisional
    pfam04734
    Location:102549
    Ceramidase_alk; Neutral/alkaline non-lysosomal ceramidase, N-terminal
    pfam17048
    Location:551718
    Ceramidse_alk_C; Neutral/alkaline non-lysosomal ceramidase, C-terminal
  4. XM_011539970.2XP_011538272.1  neutral ceramidase isoform X1

    See identical proteins and their annotated locations for XP_011538272.1

    UniProtKB/Swiss-Prot
    Q9NR71
    Related
    ENSP00000378897.3, ENST00000395526.9
    Conserved Domains (3) summary
    PTZ00487
    Location:100778
    PTZ00487; ceramidase; Provisional
    pfam04734
    Location:102608
    Ceramidase_alk; Neutral/alkaline non-lysosomal ceramidase, N-terminal
    pfam17048
    Location:610777
    Ceramidse_alk_C; Neutral/alkaline non-lysosomal ceramidase, C-terminal
  5. XM_017016436.1XP_016871925.1  neutral ceramidase isoform X6

    Related
    ENSP00000476827.1, ENST00000489640.5
  6. XM_011539973.3XP_011538275.1  neutral ceramidase isoform X5

    Conserved Domains (1) summary
    pfam04734
    Location:102608
    Ceramidase_alk; Neutral/alkaline non-lysosomal ceramidase, N-terminal

RNA

  1. XR_002956990.1 RNA Sequence

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