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Q13510

- ASAH1_HUMAN

UniProt

Q13510 - ASAH1_HUMAN

Protein

Acid ceramidase

Gene

ASAH1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 148 (01 Oct 2014)
      Sequence version 5 (16 Jun 2009)
      Previous versions | rss
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    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. cell death Source: UniProtKB-KW
    2. ceramide metabolic process Source: ProtInc
    3. glycosphingolipid metabolic process Source: Reactome
    4. lung development Source: Ensembl
    5. response to organic substance Source: Ensembl
    6. small molecule metabolic process Source: Reactome
    7. sphingolipid metabolic process Source: Reactome

    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: UniProt
    2. lysosomal lumen Source: Reactome

    Keywords - Cellular componenti

    Lysosome

    Pathology & Biotechi

    Involvement in diseasei

    Farber lipogranulomatosis (FL) [MIM:228000]: Sphingolipid 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.6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 varianti138 – 1381E → V in FL. 2 Publications
    Corresponds to variant rs28934273 [ dbSNP | Ensembl ].
    VAR_021582
    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
    Spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME) [MIM:159950]: An 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti42 – 421T → M in SMAPME; results in reduced activity. 1 Publication
    VAR_068722

    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

    ArrayExpressiQ13510.
    BgeeiQ13510.
    CleanExiHS_ASAH1.
    GenevestigatoriQ13510.

    Organism-specific databases

    HPAiHPA005468.

    Interactioni

    Subunit structurei

    Heterodimer of one alpha and one beta subunit.

    Protein-protein interaction databases

    BioGridi106920. 8 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.
    HOVERGENiHBG050586.
    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

    MPGRSCVALV LLAAAVSCAV AQHAPPWTED CRKSTYPPSG PTYRGAVPWY    50
    TINLDLPPYK RWHELMLDKA PVLKVIVNSL KNMINTFVPS GKIMQVVDEK 100
    LPGLLGNFPG PFEEEMKGIA AVTDIPLGEI ISFNIFYELF TICTSIVAED 150
    KKGHLIHGRN MDFGVFLGWN INNDTWVITE QLKPLTVNLD FQRNNKTVFK 200
    ASSFAGYVGM LTGFKPGLFS LTLNERFSIN GGYLGILEWI LGKKDVMWIG 250
    FLTRTVLENS TSYEEAKNLL TKTKILAPAY FILGGNQSGE GCVITRDRKE 300
    SLDVYELDAK QGRWYVVQTN YDRWKHPFFL DDRRTPAKMC LNRTSQENIS 350
    FETMYDVLST KPVLNKLTVY TTLIDVTKGQ FETYLRDCPD PCIGW 395
    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.

    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 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 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

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS47813.1. [Q13510-3 ]
    CCDS6005.1. [Q13510-2 ]
    CCDS6006.1. [Q13510-1 ]
    RefSeqi NP_001120977.1. NM_001127505.1. [Q13510-3 ]
    NP_004306.3. NM_004315.4. [Q13510-2 ]
    NP_808592.2. NM_177924.3. [Q13510-1 ]
    UniGenei Hs.527412.
    Hs.633993.

    3D structure databases

    ProteinModelPortali Q13510.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106920. 8 interactions.
    IntActi Q13510. 7 interactions.
    MINTi MINT-1368026.
    STRINGi 9606.ENSP00000371152.

    Chemistry

    ChEMBLi CHEMBL5463.

    Protein family/group databases

    MEROPSi C89.001.

    PTM databases

    PhosphoSitei Q13510.

    Polymorphism databases

    DMDMi 239938949.

    Proteomic databases

    MaxQBi Q13510.
    PaxDbi Q13510.
    PRIDEi Q13510.

    Protocols and materials databases

    DNASUi 427.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000262097 ; ENSP00000262097 ; ENSG00000104763 . [Q13510-1 ]
    ENST00000314146 ; ENSP00000326970 ; ENSG00000104763 . [Q13510-3 ]
    ENST00000381733 ; ENSP00000371152 ; ENSG00000104763 . [Q13510-2 ]
    GeneIDi 427.
    KEGGi hsa:427.
    UCSCi uc003wyl.2. human. [Q13510-1 ]
    uc003wyn.2. human. [Q13510-2 ]

    Organism-specific databases

    CTDi 427.
    GeneCardsi GC08M017958.
    HGNCi HGNC:735. ASAH1.
    HPAi HPA005468.
    MIMi 159950. phenotype.
    228000. phenotype.
    613468. gene.
    neXtProti NX_Q13510.
    Orphaneti 333. Farber lipogranulomatosis.
    2590. Hereditary myoclonus - progressive distal muscular atrophy.
    PharmGKBi PA35025.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG84249.
    HOVERGENi HBG050586.
    KOi K12348.
    OMAi YTINLDL.
    OrthoDBi EOG7TTQ7P.
    PhylomeDBi Q13510.
    TreeFami TF313219.

    Enzyme and pathway databases

    Reactomei REACT_116105. Glycosphingolipid metabolism.
    SABIO-RK Q13510.

    Miscellaneous databases

    ChiTaRSi ASAH1. human.
    GeneWikii ASAH1.
    GenomeRNAii 427.
    NextBioi 1787.
    PROi Q13510.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q13510.
    Bgeei Q13510.
    CleanExi HS_ASAH1.
    Genevestigatori Q13510.

    Family and domain databases

    Gene3Di 3.60.60.10. 1 hit.
    InterProi IPR016699. Acid_ceramidase-like.
    IPR029130. Acid_ceramidase_N.
    IPR029132. CBAH/NAAA_C.
    IPR003199. Chologlycine_hydro/PeptC59.
    [Graphical view ]
    Pfami PF02275. CBAH. 1 hit.
    PF15508. NAAA-beta. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF017632. Acid_ceramidase-like. 1 hit.
    ProtoNeti Search...

    Publicationsi

    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. Cited for: VARIANT SMAPME MET-42, CHARACTERIZATION OF VARIANT SMAPME MET-42.

    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: October 1, 2014
    This is version 148 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