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P0C7U1

- ASA2B_HUMAN

UniProt

P0C7U1 - ASA2B_HUMAN

Protein

Putative inactive neutral ceramidase B

Gene

ASAH2B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 49 (01 Oct 2014)
      Sequence version 1 (22 Jul 2008)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Putative inactive neutral ceramidase B
    Alternative name(s):
    ASAH2-like protein
    Putative inactive N-acylsphingosine amidohydrolase 2B
    Putative inactive non-lysosomal ceramidase B
    Gene namesi
    Name:ASAH2B
    Synonyms:ASAH2L
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:23456. ASAH2B.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134977109.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 165165Putative inactive neutral ceramidase BPRO_0000343741Add
    BLAST

    Proteomic databases

    PaxDbiP0C7U1.
    PRIDEiP0C7U1.

    PTM databases

    PhosphoSiteiP0C7U1.

    Expressioni

    Tissue specificityi

    Ubiquitous. Expression is reduced with increasing age and in late-onset Alzheimer disease (LOAD) patients. This reduction is even more pronounced in patients with an affected mother.1 Publication

    Gene expression databases

    BgeeiP0C7U1.
    CleanExiHS_ASAH2B.
    GenevestigatoriP0C7U1.

    Organism-specific databases

    HPAiHPA051862.

    Interactioni

    Protein-protein interaction databases

    BioGridi575684. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliP0C7U1.
    SMRiP0C7U1. Positions 30-163.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the neutral ceramidase family.Curated

    Phylogenomic databases

    eggNOGiNOG316089.
    HOGENOMiHOG000034083.
    HOVERGENiHBG105868.
    InParanoidiP0C7U1.
    OrthoDBiEOG7WQ7RQ.
    PhylomeDBiP0C7U1.

    Family and domain databases

    InterProiIPR006823. Ceramidase_alk.
    [Graphical view]
    PANTHERiPTHR12670. PTHR12670. 1 hit.
    PfamiPF04734. Ceramidase_alk. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P0C7U1-1 [UniParc]FASTAAdd to Basket

    « Hide

    MRQHRQFMDR THYLLTFSSS ETLLRLLLRI VDRAPKGRTF GDVLQPAKPE    50
    YRVGEVAEVI FVGANPKNSV QNQTHQTFLT VEKYEATSTS WQIVCNDASW 100
    ETRFYWHKGL LGLSNATVEW HIPDTAQPGI YRIRYFGHNR KQDILKPAVI 150
    LSFEGTSPAF EVVTI 165
    Length:165
    Mass (Da):19,025
    Last modified:July 22, 2008 - v1
    Checksum:iAB59B4F728F82D66
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL589794 Genomic DNA. No translation available.
    CCDSiCCDS31203.1.
    RefSeqiNP_001072984.1. NM_001079516.2.
    XP_006718015.1. XM_006717952.1.
    UniGeneiHs.710005.

    Genome annotation databases

    EnsembliENST00000374006; ENSP00000363118; ENSG00000204147.
    GeneIDi653308.
    KEGGihsa:653308.
    UCSCiuc001jjg.4. human.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL589794 Genomic DNA. No translation available.
    CCDSi CCDS31203.1.
    RefSeqi NP_001072984.1. NM_001079516.2.
    XP_006718015.1. XM_006717952.1.
    UniGenei Hs.710005.

    3D structure databases

    ProteinModelPortali P0C7U1.
    SMRi P0C7U1. Positions 30-163.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 575684. 1 interaction.

    PTM databases

    PhosphoSitei P0C7U1.

    Proteomic databases

    PaxDbi P0C7U1.
    PRIDEi P0C7U1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000374006 ; ENSP00000363118 ; ENSG00000204147 .
    GeneIDi 653308.
    KEGGi hsa:653308.
    UCSCi uc001jjg.4. human.

    Organism-specific databases

    CTDi 653308.
    GeneCardsi GC10P052499.
    HGNCi HGNC:23456. ASAH2B.
    HPAi HPA051862.
    MIMi 610987. gene.
    neXtProti NX_P0C7U1.
    PharmGKBi PA134977109.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG316089.
    HOGENOMi HOG000034083.
    HOVERGENi HBG105868.
    InParanoidi P0C7U1.
    OrthoDBi EOG7WQ7RQ.
    PhylomeDBi P0C7U1.

    Miscellaneous databases

    GeneWikii ASAH2B.
    NextBioi 123060.
    PROi P0C7U1.
    SOURCEi Search...

    Gene expression databases

    Bgeei P0C7U1.
    CleanExi HS_ASAH2B.
    Genevestigatori P0C7U1.

    Family and domain databases

    InterProi IPR006823. Ceramidase_alk.
    [Graphical view ]
    PANTHERi PTHR12670. PTHR12670. 1 hit.
    Pfami PF04734. Ceramidase_alk. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "A novel gene derived from a segmental duplication shows perturbed expression in Alzheimer's disease."
      Avramopoulos D., Wang R., Valle D., Fallin M.D., Bassett S.S.
      Neurogenetics 8:111-120(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiASA2B_HUMAN
    AccessioniPrimary (citable) accession number: P0C7U1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 22, 2008
    Last sequence update: July 22, 2008
    Last modified: October 1, 2014
    This is version 49 of the entry and version 1 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

    Miscellaneous

    ASAH2B/ASAH2L is a partial paralog of ASAH2, resulting from a partial duplication of ASAH2 on chromosome 10. It has a polymorphic start codon with a single nucleotide change of the original ASAH2 sequence plus other putative translation start site that might lead to several potential ORFs.

    Caution

    In contrast to other members of the family, ASAH2B has no predicted transmembrane domain, and lacks the active site, suggesting that it may be catalytically inactive.Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3