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P49614

- HEXB_FELCA

UniProt

P49614 - HEXB_FELCA

Protein

Beta-hexosaminidase subunit beta

Gene

HEXB

Organism
Felis catus (Cat) (Felis silvestris catus)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 87 (01 Oct 2014)
      Sequence version 2 (10 May 2005)
      Previous versions | rss
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    Functioni

    Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues.

    Catalytic activityi

    Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei329 – 3291Proton donorBy similarity

    GO - Molecular functioni

    1. beta-N-acetylhexosaminidase activity Source: UniProtKB-EC

    GO - Biological processi

    1. astrocyte cell migration Source: Ensembl
    2. cellular calcium ion homeostasis Source: Ensembl
    3. cellular protein metabolic process Source: Ensembl
    4. ganglioside catabolic process Source: Ensembl
    5. glycosaminoglycan metabolic process Source: Ensembl
    6. lipid storage Source: Ensembl
    7. locomotory behavior Source: Ensembl
    8. lysosome organization Source: Ensembl
    9. male courtship behavior Source: Ensembl
    10. myelination Source: Ensembl
    11. neuromuscular process controlling balance Source: Ensembl
    12. oligosaccharide catabolic process Source: Ensembl
    13. oogenesis Source: Ensembl
    14. penetration of zona pellucida Source: Ensembl
    15. phospholipid biosynthetic process Source: Ensembl
    16. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    17. regulation of cell shape Source: Ensembl
    18. sensory perception of sound Source: Ensembl
    19. skeletal system development Source: Ensembl

    Keywords - Molecular functioni

    Glycosidase, Hydrolase

    Protein family/group databases

    CAZyiGH20. Glycoside Hydrolase Family 20.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Beta-hexosaminidase subunit beta (EC:3.2.1.52)
    Alternative name(s):
    Beta-N-acetylhexosaminidase subunit beta
    Short name:
    Hexosaminidase subunit B
    N-acetyl-beta-glucosaminidase subunit beta
    Gene namesi
    Name:HEXB
    OrganismiFelis catus (Cat) (Felis silvestris catus)
    Taxonomic identifieri9685 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaLaurasiatheriaCarnivoraFeliformiaFelidaeFelinaeFelis
    ProteomesiUP000011712: Unplaced

    Subcellular locationi

    GO - Cellular componenti

    1. acrosomal vesicle Source: Ensembl
    2. lysosome Source: UniProtKB-SubCell
    3. membrane Source: Ensembl

    Keywords - Cellular componenti

    Lysosome

    Pathology & Biotechi

    Involvement in diseasei

    Defects in HEXB are responsible for Sandhoff disease (GM2-gangliosidosis type-II). This disorder is found in Korat cats (initially imported from Thailand).

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2424Sequence AnalysisAdd
    BLAST
    Chaini25 – 531507Beta-hexosaminidase subunit betaPRO_0000012001Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi50 – 501N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi65 ↔ 111By similarity
    Glycosylationi116 – 1161N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi164 – 1641N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi283 ↔ 334By similarity
    Glycosylationi301 – 3011N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi508 ↔ 525By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Structurei

    3D structure databases

    ProteinModelPortaliP49614.
    SMRiP49614. Positions 29-526.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyl hydrolase 20 family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiCOG3525.
    HOVERGENiHBG005961.
    KOiK12373.

    Family and domain databases

    Gene3Di3.20.20.80. 1 hit.
    3.30.379.10. 1 hit.
    InterProiIPR025705. Beta_hexosaminidase_sua/sub.
    IPR029018. Chitobiase/Hex_dom_2-like.
    IPR015883. Glyco_hydro_20_cat-core.
    IPR013781. Glyco_hydro_catalytic_dom.
    IPR017853. Glycoside_hydrolase_SF.
    IPR029019. HEX_eukaryotic_N.
    [Graphical view]
    PfamiPF00728. Glyco_hydro_20. 1 hit.
    PF14845. Glycohydro_20b2. 1 hit.
    [Graphical view]
    PIRSFiPIRSF001093. B-hxosamndse_ab_euk_. 1 hit.
    PRINTSiPR00738. GLHYDRLASE20.
    SUPFAMiSSF51445. SSF51445. 1 hit.
    SSF55545. SSF55545. 1 hit.

    Sequencei

    Sequence statusi: Complete.

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

    P49614-1 [UniParc]FASTAAdd to Basket

    « Hide

    MRHRGLGLAA LLALLAAVAP RSSAAAGAAL WPMPLSVKTS PRLLHLSRDN    50
    FSIGYGPSST AGPTCSLLQE AFRRYHEYIF GFDKRQRRPA KPNSAIELQQ 100
    LLVTVVLDSE CDLFPNITSD ESYTLLVKEP VAFLKANRVW GVLRGLETFS 150
    QLIYQDSYGT FTVNESDIID SPRFPHRGIL IDTARHFLPV KSILKTLDAM 200
    AFNKFNVLHW HIVDDQSFPY QSVTFPELSN KGSYSLSHVY TPNDVHTVIE 250
    YARLRGIRVI PEFDSPGHTQ SWGKGQKDLL TPCYNEHKQS GTFGPINPIL 300
    NSTYNFLSQF FKEVSMVFPD HFVHLGGDEV EFQCWESNPE IQGFMKQKGF 350
    GKDFRRLESF YLQKLLGIVS TVKKGSIVWQ EVFDDHVKLL PGTIVQVWKN 400
    QVYTEELREV TAAGFPVILS APWYLDWISY GQDWRNYYKV DPLHFDGSQE 450
    QKKLVIGGEA CLWGEFVDAT NLTPRLWPRA SAVGERLWSP EDITSVGNAY 500
    NRLTVHRCRM VRRGISAEPL FTGYCDYEYK T 531
    Length:531
    Mass (Da):60,427
    Last modified:May 10, 2005 - v2
    Checksum:iAC6E0C8C6509509B
    GO

    Sequence cautioni

    The sequence AAB30707.2 differs from that shown. Reason: Frameshift at position 27.

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    S70340 mRNA. Translation: AAB30707.2. Frameshift.
    RefSeqiNP_001009333.2. NM_001009333.2.

    Genome annotation databases

    GeneIDi493928.
    KEGGifca:493928.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    S70340 mRNA. Translation: AAB30707.2 . Frameshift.
    RefSeqi NP_001009333.2. NM_001009333.2.

    3D structure databases

    ProteinModelPortali P49614.
    SMRi P49614. Positions 29-526.
    ModBasei Search...
    MobiDBi Search...

    Protein family/group databases

    CAZyi GH20. Glycoside Hydrolase Family 20.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 493928.
    KEGGi fca:493928.

    Organism-specific databases

    CTDi 3074.

    Phylogenomic databases

    eggNOGi COG3525.
    HOVERGENi HBG005961.
    KOi K12373.

    Family and domain databases

    Gene3Di 3.20.20.80. 1 hit.
    3.30.379.10. 1 hit.
    InterProi IPR025705. Beta_hexosaminidase_sua/sub.
    IPR029018. Chitobiase/Hex_dom_2-like.
    IPR015883. Glyco_hydro_20_cat-core.
    IPR013781. Glyco_hydro_catalytic_dom.
    IPR017853. Glycoside_hydrolase_SF.
    IPR029019. HEX_eukaryotic_N.
    [Graphical view ]
    Pfami PF00728. Glyco_hydro_20. 1 hit.
    PF14845. Glycohydro_20b2. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF001093. B-hxosamndse_ab_euk_. 1 hit.
    PRINTSi PR00738. GLHYDRLASE20.
    SUPFAMi SSF51445. SSF51445. 1 hit.
    SSF55545. SSF55545. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of the molecular defect in a feline model for type II GM2-gangliosidosis (Sandhoff disease)."
      Muldoon L.L., Neuwelt E.A., Pagel M.A., Weiss D.L.
      Am. J. Pathol. 144:1109-1118(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Strain: Korat.
      Tissue: Liver.

    Entry informationi

    Entry nameiHEXB_FELCA
    AccessioniPrimary (citable) accession number: P49614
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1996
    Last sequence update: May 10, 2005
    Last modified: October 1, 2014
    This is version 87 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Glycosyl hydrolases
      Classification of glycosyl hydrolase families and list of entries
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3