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Protein

Acid ceramidase

Gene

ASAH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid.

Catalytic activityi

N-acylsphingosine + H2O = a carboxylate + sphingosine.

GO - Molecular functioni

  • catalytic activity Source: ProtInc
  • ceramidase activity Source: Reactome

GO - Biological processi

  • ceramide metabolic process Source: ProtInc
  • glycosphingolipid metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Enzyme and pathway databases

BioCyciZFISH:HS02614-MONOMER.
BRENDAi3.5.1.23. 2681.
ReactomeiR-HSA-1660662. Glycosphingolipid metabolism.
R-HSA-6798695. Neutrophil degranulation.
SABIO-RKQ13510.

Protein family/group databases

MEROPSiC89.001.

Chemistry databases

SwissLipidsiSLP:000000162.

Names & Taxonomyi

Protein namesi
Recommended name:
Acid ceramidase (EC:3.5.1.23)
Short name:
AC
Short name:
ACDase
Short name:
Acid CDase
Alternative name(s):
Acylsphingosine deacylase
N-acylsphingosine amidohydrolase
Putative 32 kDa heart protein
Short name:
PHP32
Cleaved into the following 2 chains:
Gene namesi
Name:ASAH1
Synonyms:ASAH
ORF Names:HSD-33, HSD33
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:735. ASAH1.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • extracellular space Source: UniProtKB
  • lysosomal lumen Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

Farber lipogranulomatosis (FRBRL)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive lysosomal storage disorder characterized by subcutaneous lipid-loaded nodules, excruciating pain in the joints and extremities, and marked accumulation of ceramide in lysosomes. Disease severity is variable. The most severe disease subtype is a rare neonatal form with death occurring before 1 year of age.
See also OMIM:228000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03816622Q → H in FRBRL. 1 Publication1
Natural variantiVAR_03816723H → D in FRBRL. 1 Publication1
Natural variantiVAR_02157936Y → C in FRBRL. 1 PublicationCorresponds to variant rs137853595dbSNPEnsembl.1
Natural variantiVAR_02158096Missing in FRBRL. 1 Publication1
Natural variantiVAR_02158197V → E in FRBRL. 1 Publication1
Natural variantiVAR_07199497V → G in FRBRL. 1 Publication1
Natural variantiVAR_021582138E → V in FRBRL. 2 PublicationsCorresponds to variant rs28934273dbSNPEnsembl.1
Natural variantiVAR_071995168G → W in FRBRL. 1 Publication1
Natural variantiVAR_038169182L → V in FRBRL. 1 PublicationCorresponds to variant rs137853597dbSNPEnsembl.1
Natural variantiVAR_008862222T → K in FRBRL. 2 PublicationsCorresponds to variant rs137853593dbSNPEnsembl.1
Natural variantiVAR_021583235G → R in FRBRL. 1 Publication1
Natural variantiVAR_021584254R → G in FRBRL. 1 Publication1
Natural variantiVAR_021585320N → D in FRBRL. 2 PublicationsCorresponds to variant rs137853596dbSNPEnsembl.1
Natural variantiVAR_021586362P → R in FRBRL. 1 Publication1
Spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive neuromuscular disorder characterized by childhood onset of motor deficits and progressive myoclonic seizures, after normal developmental milestones. Proximal muscle weakness and generalized muscular atrophy are due to degeneration of spinal motor neurons. Myoclonic epilepsy is generally resistant to conventional therapy. The disease course is progressive and leads to respiratory muscle involvement and severe handicap or early death from respiratory insufficiency.
See also OMIM:159950
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06872242T → M in SMAPME; results in reduced activity. 1 PublicationCorresponds to variant rs145873635dbSNPEnsembl.1
Natural variantiVAR_072247152K → N in SMAPME; results in reduced activity. 1 PublicationCorresponds to variant rs200455852dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Epilepsy, Neurodegeneration

Organism-specific databases

DisGeNETi427.
MalaCardsiASAH1.
MIMi159950. phenotype.
228000. phenotype.
OpenTargetsiENSG00000104763.
Orphaneti333. Farber lipogranulomatosis.
2590. Hereditary myoclonus - progressive distal muscular atrophy.
PharmGKBiPA35025.

Chemistry databases

ChEMBLiCHEMBL5463.

Polymorphism and mutation databases

BioMutaiASAH1.
DMDMi239938949.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Sequence analysisAdd BLAST21
ChainiPRO_000000231222 – 142Acid ceramidase subunit alphaAdd BLAST121
ChainiPRO_0000002313143 – 395Acid ceramidase subunit betaAdd BLAST253

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi173N-linked (GlcNAc...)Sequence analysis1
Glycosylationi195N-linked (GlcNAc...)Sequence analysis1
Glycosylationi259N-linked (GlcNAc...)4 Publications1
Glycosylationi286N-linked (GlcNAc...)2 Publications1
Glycosylationi342N-linked (GlcNAc...)Sequence analysis1
Glycosylationi348N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ13510.
MaxQBiQ13510.
PaxDbiQ13510.
PeptideAtlasiQ13510.
PRIDEiQ13510.
TopDownProteomicsiQ13510-1. [Q13510-1]

PTM databases

iPTMnetiQ13510.
PhosphoSitePlusiQ13510.
SwissPalmiQ13510.

Expressioni

Tissue specificityi

Broadly expressed with highest expression in heart.

Gene expression databases

BgeeiENSG00000104763.
CleanExiHS_ASAH1.
ExpressionAtlasiQ13510. baseline and differential.
GenevisibleiQ13510. HS.

Organism-specific databases

HPAiHPA005468.

Interactioni

Subunit structurei

Heterodimer of one alpha and one beta subunit.

Protein-protein interaction databases

BioGridi106920. 32 interactors.
IntActiQ13510. 7 interactors.
MINTiMINT-1368026.
STRINGi9606.ENSP00000371152.

Chemistry databases

BindingDBiQ13510.

Structurei

3D structure databases

ProteinModelPortaliQ13510.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the acid ceramidase family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IFSS. Eukaryota.
ENOG410XQ6Y. LUCA.
GeneTreeiENSGT00530000063548.
HOGENOMiHOG000007253.
HOVERGENiHBG050586.
InParanoidiQ13510.
KOiK12348.
OMAiWYTINLD.
OrthoDBiEOG091G08N9.
PhylomeDBiQ13510.
TreeFamiTF313219.

Family and domain databases

Gene3Di3.60.60.10. 1 hit.
InterProiIPR016699. Acid_ceramidase-like.
IPR029130. Acid_ceramidase_N.
IPR029132. CBAH/NAAA_C.
IPR003199. Chologlycine_hydro/PeptC59.
[Graphical view]
PfamiPF02275. CBAH. 1 hit.
PF15508. NAAA-beta. 1 hit.
[Graphical view]
PIRSFiPIRSF017632. Acid_ceramidase-like. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q13510-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MPGRSCVALV LLAAAVSCAV AQHAPPWTED CRKSTYPPSG PTYRGAVPWY
60 70 80 90 100
TINLDLPPYK RWHELMLDKA PVLKVIVNSL KNMINTFVPS GKIMQVVDEK
110 120 130 140 150
LPGLLGNFPG PFEEEMKGIA AVTDIPLGEI ISFNIFYELF TICTSIVAED
160 170 180 190 200
KKGHLIHGRN MDFGVFLGWN INNDTWVITE QLKPLTVNLD FQRNNKTVFK
210 220 230 240 250
ASSFAGYVGM LTGFKPGLFS LTLNERFSIN GGYLGILEWI LGKKDVMWIG
260 270 280 290 300
FLTRTVLENS TSYEEAKNLL TKTKILAPAY FILGGNQSGE GCVITRDRKE
310 320 330 340 350
SLDVYELDAK QGRWYVVQTN YDRWKHPFFL DDRRTPAKMC LNRTSQENIS
360 370 380 390
FETMYDVLST KPVLNKLTVY TTLIDVTKGQ FETYLRDCPD PCIGW
Length:395
Mass (Da):44,660
Last modified:June 16, 2009 - v5
Checksum:i83467DBE8917DB6D
GO
Isoform 2 (identifier: Q13510-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-26: MPGRSCVALVLLAAAVSCAVAQHAPP → MNCCIGLGEKARGSHRASYPSLSALFTEASILGFGSFAVKAQ

Show »
Length:411
Mass (Da):46,504
Checksum:i09D3BF40743119CF
GO
Isoform 3 (identifier: Q13510-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-26: MPGRSCVALVLLAAAVSCAVAQHAPP → MNCCIGLGEKARGSHRASYPSLSALFTEASILGFGSFAVKAQ
     42-42: T → TVFPAVIR
     73-101: Missing.

Note: No experimental confirmation available.
Show »
Length:389
Mass (Da):44,046
Checksum:i56A2FF8FB1911AD5
GO

Sequence cautioni

The sequence AAC73009 differs from that shown. Reason: Frameshift at positions 15 and 21.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti122V → A in AAQ75550 (Ref. 4) Curated1
Sequence conflicti142I → V in AAH16828 (PubMed:15489334).Curated1
Sequence conflicti155L → P in AAQ75550 (Ref. 4) Curated1
Sequence conflicti233Y → N in AAQ75550 (Ref. 4) Curated1
Sequence conflicti364L → P in AAQ75550 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03816622Q → H in FRBRL. 1 Publication1
Natural variantiVAR_03816723H → D in FRBRL. 1 Publication1
Natural variantiVAR_02157936Y → C in FRBRL. 1 PublicationCorresponds to variant rs137853595dbSNPEnsembl.1
Natural variantiVAR_06872242T → M in SMAPME; results in reduced activity. 1 PublicationCorresponds to variant rs145873635dbSNPEnsembl.1
Natural variantiVAR_05797970A → V.Corresponds to variant rs10103355dbSNPEnsembl.1
Natural variantiVAR_00886072V → M.4 PublicationsCorresponds to variant rs1071645dbSNPEnsembl.1
Natural variantiVAR_05798088V → M.Corresponds to variant rs1071645dbSNPEnsembl.1
Natural variantiVAR_00886193I → V.4 PublicationsCorresponds to variant rs1049874dbSNPEnsembl.1
Natural variantiVAR_02158096Missing in FRBRL. 1 Publication1
Natural variantiVAR_02158197V → E in FRBRL. 1 Publication1
Natural variantiVAR_07199497V → G in FRBRL. 1 Publication1
Natural variantiVAR_038168124D → E.Corresponds to variant rs2472205dbSNPEnsembl.1
Natural variantiVAR_021582138E → V in FRBRL. 2 PublicationsCorresponds to variant rs28934273dbSNPEnsembl.1
Natural variantiVAR_072247152K → N in SMAPME; results in reduced activity. 1 PublicationCorresponds to variant rs200455852dbSNPEnsembl.1
Natural variantiVAR_071995168G → W in FRBRL. 1 Publication1
Natural variantiVAR_038169182L → V in FRBRL. 1 PublicationCorresponds to variant rs137853597dbSNPEnsembl.1
Natural variantiVAR_008862222T → K in FRBRL. 2 PublicationsCorresponds to variant rs137853593dbSNPEnsembl.1
Natural variantiVAR_021583235G → R in FRBRL. 1 Publication1
Natural variantiVAR_038170246V → A.4 PublicationsCorresponds to variant rs10103355dbSNPEnsembl.1
Natural variantiVAR_021584254R → G in FRBRL. 1 Publication1
Natural variantiVAR_021585320N → D in FRBRL. 2 PublicationsCorresponds to variant rs137853596dbSNPEnsembl.1
Natural variantiVAR_021586362P → R in FRBRL. 1 Publication1
Natural variantiVAR_021587369V → I.1 PublicationCorresponds to variant rs17636067dbSNPEnsembl.1
Isoform 2 (identifier: Q13510-2)
Natural varianti185W → R in FL. 1 Publication1
Natural varianti382K → Q in FL. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0375041 – 26MPGRS…QHAPP → MNCCIGLGEKARGSHRASYP SLSALFTEASILGFGSFAVK AQ in isoform 2 and isoform 3. 2 PublicationsAdd BLAST26
Alternative sequenceiVSP_04628442T → TVFPAVIR in isoform 3. 1 Publication1
Alternative sequenceiVSP_04628573 – 101Missing in isoform 3. 1 PublicationAdd BLAST29

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U70063 mRNA. Translation: AAC50907.1.
U47674 mRNA. Translation: AAC73009.1. Frameshift.
AY305384 mRNA. Translation: AAQ75550.1.
AF220175, AF220172, AF220173 Genomic DNA. Translation: AAF91230.1.
AC124242 Genomic DNA. No translation available.
BC016481 mRNA. Translation: AAH16481.1.
BC016828 mRNA. Translation: AAH16828.1.
CCDSiCCDS47813.1. [Q13510-3]
CCDS6005.1. [Q13510-2]
CCDS6006.1. [Q13510-1]
RefSeqiNP_001120977.1. NM_001127505.2. [Q13510-3]
NP_004306.3. NM_004315.5. [Q13510-2]
NP_808592.2. NM_177924.4. [Q13510-1]
UniGeneiHs.527412.
Hs.633993.

Genome annotation databases

EnsembliENST00000262097; ENSP00000262097; ENSG00000104763. [Q13510-1]
ENST00000314146; ENSP00000326970; ENSG00000104763. [Q13510-3]
ENST00000381733; ENSP00000371152; ENSG00000104763. [Q13510-2]
ENST00000635998; ENSP00000490506; ENSG00000104763. [Q13510-1]
ENST00000637790; ENSP00000490272; ENSG00000104763. [Q13510-1]
GeneIDi427.
KEGGihsa:427.
UCSCiuc003wyl.3. human. [Q13510-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U70063 mRNA. Translation: AAC50907.1.
U47674 mRNA. Translation: AAC73009.1. Frameshift.
AY305384 mRNA. Translation: AAQ75550.1.
AF220175, AF220172, AF220173 Genomic DNA. Translation: AAF91230.1.
AC124242 Genomic DNA. No translation available.
BC016481 mRNA. Translation: AAH16481.1.
BC016828 mRNA. Translation: AAH16828.1.
CCDSiCCDS47813.1. [Q13510-3]
CCDS6005.1. [Q13510-2]
CCDS6006.1. [Q13510-1]
RefSeqiNP_001120977.1. NM_001127505.2. [Q13510-3]
NP_004306.3. NM_004315.5. [Q13510-2]
NP_808592.2. NM_177924.4. [Q13510-1]
UniGeneiHs.527412.
Hs.633993.

3D structure databases

ProteinModelPortaliQ13510.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106920. 32 interactors.
IntActiQ13510. 7 interactors.
MINTiMINT-1368026.
STRINGi9606.ENSP00000371152.

Chemistry databases

BindingDBiQ13510.
ChEMBLiCHEMBL5463.
SwissLipidsiSLP:000000162.

Protein family/group databases

MEROPSiC89.001.

PTM databases

iPTMnetiQ13510.
PhosphoSitePlusiQ13510.
SwissPalmiQ13510.

Polymorphism and mutation databases

BioMutaiASAH1.
DMDMi239938949.

Proteomic databases

EPDiQ13510.
MaxQBiQ13510.
PaxDbiQ13510.
PeptideAtlasiQ13510.
PRIDEiQ13510.
TopDownProteomicsiQ13510-1. [Q13510-1]

Protocols and materials databases

DNASUi427.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262097; ENSP00000262097; ENSG00000104763. [Q13510-1]
ENST00000314146; ENSP00000326970; ENSG00000104763. [Q13510-3]
ENST00000381733; ENSP00000371152; ENSG00000104763. [Q13510-2]
ENST00000635998; ENSP00000490506; ENSG00000104763. [Q13510-1]
ENST00000637790; ENSP00000490272; ENSG00000104763. [Q13510-1]
GeneIDi427.
KEGGihsa:427.
UCSCiuc003wyl.3. human. [Q13510-1]

Organism-specific databases

CTDi427.
DisGeNETi427.
GeneCardsiASAH1.
HGNCiHGNC:735. ASAH1.
HPAiHPA005468.
MalaCardsiASAH1.
MIMi159950. phenotype.
228000. phenotype.
613468. gene.
neXtProtiNX_Q13510.
OpenTargetsiENSG00000104763.
Orphaneti333. Farber lipogranulomatosis.
2590. Hereditary myoclonus - progressive distal muscular atrophy.
PharmGKBiPA35025.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFSS. Eukaryota.
ENOG410XQ6Y. LUCA.
GeneTreeiENSGT00530000063548.
HOGENOMiHOG000007253.
HOVERGENiHBG050586.
InParanoidiQ13510.
KOiK12348.
OMAiWYTINLD.
OrthoDBiEOG091G08N9.
PhylomeDBiQ13510.
TreeFamiTF313219.

Enzyme and pathway databases

BioCyciZFISH:HS02614-MONOMER.
BRENDAi3.5.1.23. 2681.
ReactomeiR-HSA-1660662. Glycosphingolipid metabolism.
R-HSA-6798695. Neutrophil degranulation.
SABIO-RKQ13510.

Miscellaneous databases

ChiTaRSiASAH1. human.
GeneWikiiASAH1.
GenomeRNAii427.
PROiQ13510.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104763.
CleanExiHS_ASAH1.
ExpressionAtlasiQ13510. baseline and differential.
GenevisibleiQ13510. HS.

Family and domain databases

Gene3Di3.60.60.10. 1 hit.
InterProiIPR016699. Acid_ceramidase-like.
IPR029130. Acid_ceramidase_N.
IPR029132. CBAH/NAAA_C.
IPR003199. Chologlycine_hydro/PeptC59.
[Graphical view]
PfamiPF02275. CBAH. 1 hit.
PF15508. NAAA-beta. 1 hit.
[Graphical view]
PIRSFiPIRSF017632. Acid_ceramidase-like. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiASAH1_HUMAN
AccessioniPrimary (citable) accession number: Q13510
Secondary accession number(s): E9PDS0, Q6W898, Q96AS2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: June 16, 2009
Last modified: November 30, 2016
This is version 172 of the entry and version 5 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.