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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

  1. catalytic activity Source: ProtInc
  2. ceramidase activity Source: Reactome

GO - Biological processi

  1. ceramide metabolic process Source: ProtInc
  2. glycosphingolipid metabolic process Source: Reactome
  3. lung development Source: Ensembl
  4. response to organic substance Source: Ensembl
  5. small molecule metabolic process Source: Reactome
  6. sphingolipid metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Enzyme and pathway databases

ReactomeiREACT_116105. Glycosphingolipid metabolism.
SABIO-RKQ13510.

Protein family/group databases

MEROPSiC89.001.

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
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:735. ASAH1.

Subcellular locationi

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProtKB
  2. lysosomal lumen Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

Farber lipogranulomatosis9 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionSphingolipid disease characterized by subcutaneous lipid-loaded nodules, excruciating pain in the joints and extremities, marked accumulation of ceramide in lysosomes, and death by three years of age.

See also OMIM:228000
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti22 – 221Q → H in FL. 1 Publication
VAR_038166
Natural varianti23 – 231H → D in FL. 1 Publication
VAR_038167
Natural varianti36 – 361Y → C in FL. 1 Publication
VAR_021579
Natural varianti96 – 961Missing in FL. 1 Publication
VAR_021580
Natural varianti97 – 971V → E in FL. 1 Publication
VAR_021581
Natural varianti97 – 971V → G in FL. 1 Publication
VAR_071994
Natural varianti138 – 1381E → V in FL. 2 Publications
Corresponds to variant rs28934273 [ dbSNP | Ensembl ].
VAR_021582
Natural varianti168 – 1681G → W in FL. 1 Publication
VAR_071995
Natural varianti182 – 1821L → V in FL. 1 Publication
VAR_038169
Natural varianti222 – 2221T → K in FL. 2 Publications
VAR_008862
Natural varianti235 – 2351G → R in FL. 1 Publication
VAR_021583
Natural varianti254 – 2541R → G in FL. 1 Publication
VAR_021584
Natural varianti320 – 3201N → D in FL. 2 Publications
VAR_021585
Natural varianti362 – 3621P → R in FL. 1 Publication
VAR_021586
Isoform 2 (identifier: Q13510-2)
Natural varianti185 – 1851W → R in FL. 1 Publication
Natural varianti382 – 3821K → Q in FL. 1 Publication
Spinal muscular atrophy with progressive myoclonic epilepsy2 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti42 – 421T → M in SMAPME; results in reduced activity. 1 Publication
VAR_068722
Natural varianti152 – 1521K → N in SMAPME; results in reduced activity. 1 Publication
VAR_072247

Keywords - Diseasei

Disease mutation, Epilepsy, Neurodegeneration

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2121Sequence AnalysisAdd
BLAST
Chaini22 – 142121Acid ceramidase subunit alphaPRO_0000002312Add
BLAST
Chaini143 – 395253Acid ceramidase subunit betaPRO_0000002313Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi173 – 1731N-linked (GlcNAc...)Sequence Analysis
Glycosylationi195 – 1951N-linked (GlcNAc...)Sequence Analysis
Glycosylationi259 – 2591N-linked (GlcNAc...)4 Publications
Glycosylationi286 – 2861N-linked (GlcNAc...)2 Publications
Glycosylationi342 – 3421N-linked (GlcNAc...)Sequence Analysis
Glycosylationi348 – 3481N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ13510.
PaxDbiQ13510.
PRIDEiQ13510.

PTM databases

PhosphoSiteiQ13510.

Expressioni

Tissue specificityi

Broadly expressed with highest expression in heart.

Gene expression databases

BgeeiQ13510.
CleanExiHS_ASAH1.
ExpressionAtlasiQ13510. baseline and differential.
GenevestigatoriQ13510.

Organism-specific databases

HPAiHPA005468.

Interactioni

Subunit structurei

Heterodimer of one alpha and one beta subunit.

Protein-protein interaction databases

BioGridi106920. 15 interactions.
IntActiQ13510. 7 interactions.
MINTiMINT-1368026.
STRINGi9606.ENSP00000371152.

Structurei

3D structure databases

ProteinModelPortaliQ13510.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the acid ceramidase family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG84249.
GeneTreeiENSGT00530000063548.
HOVERGENiHBG050586.
InParanoidiQ13510.
KOiK12348.
OMAiYTINLDL.
OrthoDBiEOG7TTQ7P.
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. Align

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 AAC73009.1 differs from that shown. Reason: Frameshift at positions 15 and 21. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti122 – 1221V → A in AAQ75550. 1 PublicationCurated
Sequence conflicti142 – 1421I → V in AAH16828. (PubMed:15489334)Curated
Sequence conflicti155 – 1551L → P in AAQ75550. 1 PublicationCurated
Sequence conflicti233 – 2331Y → N in AAQ75550. 1 PublicationCurated
Sequence conflicti364 – 3641L → P in AAQ75550. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti22 – 221Q → H in FL. 1 Publication
VAR_038166
Natural varianti23 – 231H → D in FL. 1 Publication
VAR_038167
Natural varianti36 – 361Y → C in FL. 1 Publication
VAR_021579
Natural varianti42 – 421T → M in SMAPME; results in reduced activity. 1 Publication
VAR_068722
Natural varianti70 – 701A → V.
Corresponds to variant rs10103355 [ dbSNP | Ensembl ].
VAR_057979
Natural varianti72 – 721V → M.4 Publications
Corresponds to variant rs1071645 [ dbSNP | Ensembl ].
VAR_008860
Natural varianti88 – 881V → M.
Corresponds to variant rs1071645 [ dbSNP | Ensembl ].
VAR_057980
Natural varianti93 – 931I → V.4 Publications
Corresponds to variant rs1049874 [ dbSNP | Ensembl ].
VAR_008861
Natural varianti96 – 961Missing in FL. 1 Publication
VAR_021580
Natural varianti97 – 971V → E in FL. 1 Publication
VAR_021581
Natural varianti97 – 971V → G in FL. 1 Publication
VAR_071994
Natural varianti124 – 1241D → E.
Corresponds to variant rs2472205 [ dbSNP | Ensembl ].
VAR_038168
Natural varianti138 – 1381E → V in FL. 2 Publications
Corresponds to variant rs28934273 [ dbSNP | Ensembl ].
VAR_021582
Natural varianti152 – 1521K → N in SMAPME; results in reduced activity. 1 Publication
VAR_072247
Natural varianti168 – 1681G → W in FL. 1 Publication
VAR_071995
Natural varianti182 – 1821L → V in FL. 1 Publication
VAR_038169
Natural varianti222 – 2221T → K in FL. 2 Publications
VAR_008862
Natural varianti235 – 2351G → R in FL. 1 Publication
VAR_021583
Natural varianti246 – 2461V → A.4 Publications
Corresponds to variant rs10103355 [ dbSNP | Ensembl ].
VAR_038170
Natural varianti254 – 2541R → G in FL. 1 Publication
VAR_021584
Natural varianti320 – 3201N → D in FL. 2 Publications
VAR_021585
Natural varianti362 – 3621P → R in FL. 1 Publication
VAR_021586
Natural varianti369 – 3691V → I.1 Publication
Corresponds to variant rs17636067 [ dbSNP | Ensembl ].
VAR_021587
Isoform 2 (identifier: Q13510-2)
Natural varianti185 – 1851W → R in FL. 1 Publication
Natural varianti382 – 3821K → Q in FL. 1 Publication

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2626MPGRS…QHAPP → MNCCIGLGEKARGSHRASYP SLSALFTEASILGFGSFAVK AQ in isoform 2 and isoform 3. 2 PublicationsVSP_037504Add
BLAST
Alternative sequencei42 – 421T → TVFPAVIR in isoform 3. 1 PublicationVSP_046284
Alternative sequencei73 – 10129Missing in isoform 3. 1 PublicationVSP_046285Add
BLAST

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_001127505.1. [Q13510-3]
NP_004306.3. NM_004315.4. [Q13510-2]
NP_808592.2. NM_177924.3. [Q13510-1]
UniGeneiHs.527412.
Hs.633993.

Genome annotation databases

EnsembliENST00000262097; ENSP00000262097; ENSG00000104763. [Q13510-1]
ENST00000314146; ENSP00000326970; ENSG00000104763. [Q13510-3]
ENST00000381733; ENSP00000371152; ENSG00000104763. [Q13510-2]
GeneIDi427.
KEGGihsa:427.
UCSCiuc003wyl.2. human. [Q13510-1]
uc003wyn.2. human. [Q13510-2]

Polymorphism databases

DMDMi239938949.

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_001127505.1. [Q13510-3]
NP_004306.3. NM_004315.4. [Q13510-2]
NP_808592.2. NM_177924.3. [Q13510-1]
UniGeneiHs.527412.
Hs.633993.

3D structure databases

ProteinModelPortaliQ13510.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106920. 15 interactions.
IntActiQ13510. 7 interactions.
MINTiMINT-1368026.
STRINGi9606.ENSP00000371152.

Chemistry

BindingDBiQ13510.
ChEMBLiCHEMBL5463.

Protein family/group databases

MEROPSiC89.001.

PTM databases

PhosphoSiteiQ13510.

Polymorphism databases

DMDMi239938949.

Proteomic databases

MaxQBiQ13510.
PaxDbiQ13510.
PRIDEiQ13510.

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]
GeneIDi427.
KEGGihsa:427.
UCSCiuc003wyl.2. human. [Q13510-1]
uc003wyn.2. human. [Q13510-2]

Organism-specific databases

CTDi427.
GeneCardsiGC08M017958.
HGNCiHGNC:735. ASAH1.
HPAiHPA005468.
MIMi159950. phenotype.
228000. phenotype.
613468. gene.
neXtProtiNX_Q13510.
Orphaneti333. Farber lipogranulomatosis.
2590. Hereditary myoclonus - progressive distal muscular atrophy.
PharmGKBiPA35025.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG84249.
GeneTreeiENSGT00530000063548.
HOVERGENiHBG050586.
InParanoidiQ13510.
KOiK12348.
OMAiYTINLDL.
OrthoDBiEOG7TTQ7P.
PhylomeDBiQ13510.
TreeFamiTF313219.

Enzyme and pathway databases

ReactomeiREACT_116105. Glycosphingolipid metabolism.
SABIO-RKQ13510.

Miscellaneous databases

ChiTaRSiASAH1. human.
GeneWikiiASAH1.
GenomeRNAii427.
NextBioi1787.
PROiQ13510.
SOURCEiSearch...

Gene expression databases

BgeeiQ13510.
CleanExiHS_ASAH1.
ExpressionAtlasiQ13510. baseline and differential.
GenevestigatoriQ13510.

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...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification of the first molecular lesion causing Farber disease."
    Koch J., Gaertner S., Li C.M., Quintern L.E., Bernardo K., Levran O., Schnabel D., Desnick R.J., Schuchman E.H., Sandhoff K.
    J. Biol. Chem. 271:33110-33115(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PARTIAL PROTEIN SEQUENCE, VARIANT FL LYS-222, VARIANTS MET-72; VAL-93 AND ALA-246.
    Tissue: Fibroblast, Pituitary and Urine.
  2. "A new gene family predicted by a novel human heart cDNA."
    Churchill J.R., Wieland S.J., Hoffman S., Gallin E.K., Murphy P.M.
    Mol. Biol. Cell 6:418-418(1995)
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS MET-72; VAL-93 AND ALA-246.
  3. Wieland S.J., Hoffman S., Churchill J.R., Gallin E.K., Murphy P.M.
    Submitted (NOV-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION.
  4. "A new spermatogenesis related gene."
    Fan M.M., Miao S.Y., Zhang X.D., Qiao Y., Liang G., Wang L.F.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Testis.
  5. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS FL HIS-22; ASP-23; VAL-138; LYS-222 AND ASP-320, VARIANTS MET-72; VAL-93 AND ALA-246.
  6. "The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression."
    Li C.M., Park J.H., He X., Levy B., Chen F., Arai K., Adler D.A., Disteche C.M., Koch J., Sandhoff K., Schuchman E.H.
    Genomics 62:223-231(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS FL VAL-138; GLY-254 AND ARG-362.
  7. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANTS MET-72; VAL-93 AND ALA-246.
    Tissue: Bone marrow and Skin.
  9. "Purification, characterization, and biosynthesis of human acid ceramidase."
    Bernardo K., Hurwitz R., Zenk T., Desnick R.J., Ferlinz K., Schuchman E.H., Sandhoff K.
    J. Biol. Chem. 270:11098-11102(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION.
  10. "Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry."
    Zhang H., Li X.-J., Martin D.B., Aebersold R.
    Nat. Biotechnol. 21:660-666(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION AT ASN-259 AND ASN-286.
  11. "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
    Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
    J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-259.
    Tissue: Plasma.
  12. "Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach."
    Lewandrowski U., Moebius J., Walter U., Sickmann A.
    Mol. Cell. Proteomics 5:226-233(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-259.
    Tissue: Platelet.
  13. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-259 AND ASN-286.
    Tissue: Liver.
  14. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  15. "Molecular analysis of acid ceramidase deficiency in patients with Farber disease."
    Bar J., Linke T., Ferlinz K., Neumann U., Schuchman E.H., Sandhoff K.
    Hum. Mutat. 17:199-209(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS FL CYS-36 AND ASP-320.
  16. "Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease."
    Muramatsu T., Sakai N., Yanagihara L., Yamada M., Nishigaki T., Kokubu C., Tsukamoto H., Ito M., Inui K.
    J. Inherit. Metab. Dis. 25:585-592(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS FL VAL-96 DEL; GLU-97 AND ARG-235, VARIANT ILE-369.
  17. "Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family."
    Devi A.R.R., Gopikrishna M., Ratheesh R., Savithri G., Swarnalata G., Bashyam M.
    J. Hum. Genet. 51:811-814(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT FL VAL-182.
  18. "Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation."
    Cvitanovic-Sojat L., Gjergja Juraski R., Sabourdy F., Fensom A.H., Fumic K., Paschke E., Levade T.
    Eur. J. Paediatr. Neurol. 15:171-173(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT FL TRP-168.
  19. Cited for: VARIANT SMAPME MET-42, CHARACTERIZATION OF VARIANT SMAPME MET-42.
  20. "Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system."
    Chedrawi A.K., Al-Hassnan Z.N., Al-Muhaizea M., Colak D., Al-Younes B., Albakheet A., Tulba S., Kaya N.
    Brain Dev. 34:400-404(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT FL GLY-97.
  21. "A novel mutation in an atypical presentation of the rare infantile Farber disease."
    Al Jasmi F.
    Brain Dev. 34:533-535(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS FL ARG-185 AND GLN-382 (ISOFORM 2).
  22. Cited for: VARIANT SMAPME ASN-152.

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: February 4, 2015
This is version 152 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

External Data

Dasty 3

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 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.