Gene/Proteome Database (LMPD)

LMPD ID
LMP002014
Gene ID
427
Species
Homo sapiens (Human)
Gene Name
N-acylsphingosine amidohydrolase (acid ceramidase) 1
Gene Symbol
ASAH1
Synonyms
AC; ACDase; ASAH; PHP; PHP32; SMAPME
Chromosome
8
Map Location
8p22
Summary
This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease. Multiple transcript variants encoding several distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Orthologs
View orthologs and multiple alignments for ASAH1

Proteins

acid ceramidase isoform a preproprotein
Refseq ID NP_808592
Protein GI 189011548
UniProt ID Q53H01
mRNA ID NM_177924
Length 395
RefSeq Status REVIEWED
MPGRSCVALVLLAAAVSCAVAQHAPPWTEDCRKSTYPPSGPTYRGAVPWYTINLDLPPYKRWHELMLDKAPVLKVIVNSLKNMINTFVPSGKIMQVVDEKLPGLLGNFPGPFEEEMKGIAAVTDIPLGEIISFNIFYELFTICTSIVAEDKKGHLIHGRNMDFGVFLGWNINNDTWVITEQLKPLTVNLDFQRNNKTVFKASSFAGYVGMLTGFKPGLFSLTLNERFSINGGYLGILEWILGKKDVMWIGFLTRTVLENSTSYEEAKNLLTKTKILAPAYFILGGNQSGEGCVITRDRKESLDVYELDAKQGRWYVVQTNYDRWKHPFFLDDRRTPAKMCLNRTSQENISFETMYDVLSTKPVLNKLTVYTTLIDVTKGQFETYLRDCPDPCIGW
sig_peptide: 1..21 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 2002 peptide sequence: MPGRSCVALVLLAAAVSCAVA mat_peptide: 22..142 product: acid ceramidase subunit alpha calculated_mol_wt: 13705 peptide sequence: QHAPPWTEDCRKSTYPPSGPTYRGAVPWYTINLDLPPYKRWHELMLDKAPVLKVIVNSLKNMINTFVPSGKIMQVVDEKLPGLLGNFPGPFEEEMKGIAAVTDIPLGEIISFNIFYELFTI mat_peptide: 143..395 product: acid ceramidase subunit beta calculated_mol_wt: 28988 peptide sequence: CTSIVAEDKKGHLIHGRNMDFGVFLGWNINNDTWVITEQLKPLTVNLDFQRNNKTVFKASSFAGYVGMLTGFKPGLFSLTLNERFSINGGYLGILEWILGKKDVMWIGFLTRTVLENSTSYEEAKNLLTKTKILAPAYFILGGNQSGEGCVITRDRKESLDVYELDAKQGRWYVVQTNYDRWKHPFFLDDRRTPAKMCLNRTSQENISFETMYDVLSTKPVLNKLTVYTTLIDVTKGQFETYLRDCPDPCIGW
acid ceramidase isoform b
Refseq ID NP_004306
Protein GI 189011546
UniProt ID Q53H01
mRNA ID NM_004315
Length 411
RefSeq Status REVIEWED
MNCCIGLGEKARGSHRASYPSLSALFTEASILGFGSFAVKAQWTEDCRKSTYPPSGPTYRGAVPWYTINLDLPPYKRWHELMLDKAPVLKVIVNSLKNMINTFVPSGKIMQVVDEKLPGLLGNFPGPFEEEMKGIAAVTDIPLGEIISFNIFYELFTICTSIVAEDKKGHLIHGRNMDFGVFLGWNINNDTWVITEQLKPLTVNLDFQRNNKTVFKASSFAGYVGMLTGFKPGLFSLTLNERFSINGGYLGILEWILGKKDVMWIGFLTRTVLENSTSYEEAKNLLTKTKILAPAYFILGGNQSGEGCVITRDRKESLDVYELDAKQGRWYVVQTNYDRWKHPFFLDDRRTPAKMCLNRTSQENISFETMYDVLSTKPVLNKLTVYTTLIDVTKGQFETYLRDCPDPCIGW
acid ceramidase isoform c
Refseq ID NP_001120977
Protein GI 189011550
UniProt ID Q53H01
mRNA ID NM_001127505
Length 389
RefSeq Status REVIEWED
MNCCIGLGEKARGSHRASYPSLSALFTEASILGFGSFAVKAQWTEDCRKSTYPPSGPTVFPAVIRYRGAVPWYTINLDLPPYKRWHELMLDKAPVPGLLGNFPGPFEEEMKGIAAVTDIPLGEIISFNIFYELFTICTSIVAEDKKGHLIHGRNMDFGVFLGWNINNDTWVITEQLKPLTVNLDFQRNNKTVFKASSFAGYVGMLTGFKPGLFSLTLNERFSINGGYLGILEWILGKKDVMWIGFLTRTVLENSTSYEEAKNLLTKTKILAPAYFILGGNQSGEGCVITRDRKESLDVYELDAKQGRWYVVQTNYDRWKHPFFLDDRRTPAKMCLNRTSQENISFETMYDVLSTKPVLNKLTVYTTLIDVTKGQFETYLRDCPDPCIGW

Gene Information

Entrez Gene ID
427
Gene Name
N-acylsphingosine amidohydrolase (acid ceramidase) 1
Gene Symbol
ASAH1
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005764 IEA:InterPro C lysosome
GO:0016811 IEA:InterPro F hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides
GO:0006629 IEA:InterPro P lipid metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa04142 Lysosome

BIOCYC Pathway Links

BIOCYC Pathway ID Description
PWY3DJ-11470 sphingosine and sphingosine-1-phosphate metabolism

Domain Information

InterPro Annotations

Accession Description
IPR029130 Acid ceramidase, N-terminal
IPR016699 Acid_ceramidase-like
IPR029132 Choloylglycine hydrolase/NAAA C-terminal
IPR003199 Choloylglycine hydrolase/Peptidase C59 family

UniProt Annotations

Entry Information

Gene Name
N-acylsphingosine amidohydrolase (acid ceramidase) 1
Protein Entry
ASAH1_HUMAN
UniProt ID
Q53H01
Species
Human

Identical and Related Proteins

Unique RefSeq proteins for LMP002014 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
189011548 RefSeq NP_808592 395 acid ceramidase isoform a preproprotein
189011546 RefSeq NP_004306 411 acid ceramidase isoform b
189011550 RefSeq NP_001120977 389 acid ceramidase isoform c

Identical Sequences to LMP002014 proteins

Reference Database Accession Length Protein Name
GI:189011548 SwissProt Q13510.5 395 RecName: Full=Acid ceramidase; Short=AC; Short=ACDase; Short=Acid CDase; AltName: Full=Acylsphingosine deacylase; AltName: Full=N-acylsphingosine amidohydrolase; AltName: Full=Putative 32 kDa heart protein; Short=PHP32; Contains: RecName: Full=Acid ceramidase subunit alpha; Contains: RecName: Full=Acid ceramidase subunit beta; Flags: Precursor [Homo sapiens]

Related Sequences to LMP002014 proteins

Reference Database Accession Length Protein Name
GI:189011548 DBBJ BAI46572.1 395 Acid ceramidase Precursor, partial [synthetic construct]
GI:189011548 GenBank AAH16481.1 395 N-acylsphingosine amidohydrolase (acid ceramidase) 1 [Homo sapiens]
GI:189011550 GenBank AAH16828.1 389 ASAH1 protein [Homo sapiens]
GI:189011546 GenBank AAQ75550.1 411 HSD-33 [Homo sapiens]
GI:189011548 GenBank AAT18767.1 395 Sequence 56 from patent US 6703204
GI:189011550 GenBank EAW63794.1 390 N-acylsphingosine amidohydrolase (acid ceramidase) 1, isoform CRA_d [Homo sapiens]
GI:189011548 GenBank ABM81997.1 395 N-acylsphingosine amidohydrolase (acid ceramidase) 1 [synthetic construct]
GI:189011548 GenBank ABM85180.1 395 N-acylsphingosine amidohydrolase (acid ceramidase) 1, partial [synthetic construct]
GI:189011546 GenBank ADT47523.1 411 Sequence 1184 from patent US 7842466
GI:189011550 GenBank ADT47525.1 390 Sequence 1186 from patent US 7842466
GI:189011546 GenBank AHD74867.1 411 Sequence 15571 from patent US 8586006
GI:189011548 GenBank AHD74868.1 395 Sequence 15572 from patent US 8586006
GI:189011550 GenBank AIC54038.1 389 ASAH1, partial [synthetic construct]
GI:189011550 RefSeq XP_003256768.1 389 PREDICTED: acid ceramidase isoform 3 [Nomascus leucogenys]
GI:189011546 RefSeq XP_003823687.1 411 PREDICTED: acid ceramidase isoform X2 [Pan paniscus]
GI:189011546 RefSeq XP_004046758.1 411 PREDICTED: acid ceramidase isoform 2 [Gorilla gorilla gorilla]
GI:189011550 RefSeq XP_004046759.1 389 PREDICTED: acid ceramidase isoform 3 [Gorilla gorilla gorilla]
GI:189011546 RefSeq XP_009453123.1 411 PREDICTED: acid ceramidase isoform X1 [Pan troglodytes]