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Q9H3M9

- ATX3L_HUMAN

UniProt

Q9H3M9 - ATX3L_HUMAN

Protein

Putative ataxin-3-like protein

Gene

ATXN3L

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Protein uncertaini
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    • History
      Entry version 86 (01 Oct 2014)
      Sequence version 2 (09 Jan 2007)
      Previous versions | rss
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    Functioni

    Deubiquitinating enzyme that cleaves both 'Lys-48'-linked and 'Lys-63'-linked poly-ubiquitin chains (in vitro).

    Catalytic activityi

    Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei14 – 141NucleophilePROSITE-ProRule annotation
    Active sitei119 – 1191Proton acceptorPROSITE-ProRule annotation
    Active sitei134 – 1341PROSITE-ProRule annotation

    GO - Molecular functioni

    1. omega peptidase activity Source: InterPro
    2. ubiquitin-specific protease activity Source: UniProtKB

    GO - Biological processi

    1. protein deubiquitination Source: UniProtKB
    2. regulation of transcription, DNA-templated Source: UniProtKB-KW
    3. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Hydrolase, Protease, Thiol protease

    Keywords - Biological processi

    Transcription, Transcription regulation, Ubl conjugation pathway

    Protein family/group databases

    MEROPSiC86.002.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Putative ataxin-3-like protein (EC:3.4.19.12)
    Alternative name(s):
    Machado-Joseph disease protein 1-like
    Gene namesi
    Name:ATXN3L
    Synonyms:ATX3L, MJDL
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:24173. ATXN3L.

    Subcellular locationi

    Nucleus By similarity

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134884147.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 355355Putative ataxin-3-like proteinPRO_0000271099Add
    BLAST

    Proteomic databases

    PaxDbiQ9H3M9.
    PRIDEiQ9H3M9.

    PTM databases

    PhosphoSiteiQ9H3M9.

    Expressioni

    Gene expression databases

    BgeeiQ9H3M9.
    GenevestigatoriQ9H3M9.

    Organism-specific databases

    HPAiHPA024123.
    HPA027539.

    Interactioni

    Protein-protein interaction databases

    BioGridi124954. 7 interactions.
    STRINGi9606.ENSP00000369996.

    Structurei

    Secondary structure

    1
    355
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi14 – 2310
    Helixi30 – 4819
    Helixi49 – 513
    Helixi56 – 627
    Beta strandi67 – 693
    Helixi77 – 859
    Turni86 – 883
    Beta strandi90 – 934
    Helixi97 – 1015
    Helixi106 – 1083
    Beta strandi111 – 1188
    Beta strandi120 – 1267
    Beta strandi129 – 1324
    Beta strandi137 – 1393
    Beta strandi141 – 1433
    Helixi145 – 1528
    Helixi153 – 1564
    Beta strandi160 – 1678
    Helixi173 – 1786

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3O65X-ray2.70A/C/E/G1-190[»]
    ProteinModelPortaliQ9H3M9.
    SMRiQ9H3M9. Positions 1-186.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini1 – 180180JosephinPROSITE-ProRule annotationAdd
    BLAST
    Repeati224 – 24320UIM 1Add
    BLAST
    Repeati244 – 25815UIM 2Add
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi291 – 30010Poly-Gln

    Sequence similaritiesi

    Contains 1 Josephin domain.PROSITE-ProRule annotation
    Contains 2 UIM (ubiquitin-interacting motif) repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG327234.
    HOGENOMiHOG000006034.
    HOVERGENiHBG025648.
    InParanoidiQ9H3M9.
    KOiK11863.
    OMAiNALKFWG.
    OrthoDBiEOG779NZ3.
    PhylomeDBiQ9H3M9.
    TreeFamiTF314228.

    Family and domain databases

    InterProiIPR006155. Josephin.
    IPR003903. Ubiquitin-int_motif.
    [Graphical view]
    PfamiPF02099. Josephin. 1 hit.
    PF02809. UIM. 2 hits.
    [Graphical view]
    PRINTSiPR01233. JOSEPHIN.
    SMARTiSM00726. UIM. 2 hits.
    [Graphical view]
    PROSITEiPS50957. JOSEPHIN. 1 hit.
    PS50330. UIM. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9H3M9-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDFIFHEKQE GFLCAQHCLN NLLQGEYFSP VELASIAHQL DEEERMRMAE    50
    GGVTSEEYLA FLQQPSENMD DTGFFSIQVI SNALKFWGLE IIHFNNPEYQ 100
    KLGIDPINER SFICNYKQHW FTIRKFGKHW FNLNSLLAGP ELISDTCLAN 150
    FLARLQQQAY SVFVVKGDLP DCEADQLLQI ISVEEMDTPK LNGKKLVKQK 200
    EHRVYKTVLE KVSEESDESG TSDQDEEDFQ RALELSRQET NREDEHLRST 250
    IELSMQGSSG NTSQDLPKTS CVTPASEQPK KIKEDYFEKH QQEQKQQQQQ 300
    SDLPGHSSYL HERPTTSSRA IESDLSDDIS EGTVQAAVDT ILEIMRKNLK 350
    IKGEK 355
    Length:355
    Mass (Da):40,747
    Last modified:January 9, 2007 - v2
    Checksum:iEE5097A6E4476D75
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti101 – 1011K → M in BAB18799. (PubMed:11450850)Curated
    Sequence conflicti314 – 3141P → A in BAB18799. (PubMed:11450850)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti266 – 2661L → F.
    Corresponds to variant rs16999010 [ dbSNP | Ensembl ].
    VAR_029861
    Natural varianti332 – 3321G → D.3 Publications
    Corresponds to variant rs4830842 [ dbSNP | Ensembl ].
    VAR_029862

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC004674 Genomic DNA. No translation available.
    CH471074 Genomic DNA. Translation: EAW98819.1.
    BC137186 mRNA. Translation: AAI37187.1.
    BC137187 mRNA. Translation: AAI37188.1.
    AB050195 mRNA. Translation: BAB18799.1.
    CCDSiCCDS48080.1.
    RefSeqiNP_001129467.1. NM_001135995.1.
    UniGeneiHs.382641.

    Genome annotation databases

    EnsembliENST00000380622; ENSP00000369996; ENSG00000123594.
    GeneIDi92552.
    KEGGihsa:92552.
    UCSCiuc010ned.3. human.

    Polymorphism databases

    DMDMi122055954.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC004674 Genomic DNA. No translation available.
    CH471074 Genomic DNA. Translation: EAW98819.1 .
    BC137186 mRNA. Translation: AAI37187.1 .
    BC137187 mRNA. Translation: AAI37188.1 .
    AB050195 mRNA. Translation: BAB18799.1 .
    CCDSi CCDS48080.1.
    RefSeqi NP_001129467.1. NM_001135995.1.
    UniGenei Hs.382641.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3O65 X-ray 2.70 A/C/E/G 1-190 [» ]
    ProteinModelPortali Q9H3M9.
    SMRi Q9H3M9. Positions 1-186.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124954. 7 interactions.
    STRINGi 9606.ENSP00000369996.

    Protein family/group databases

    MEROPSi C86.002.

    PTM databases

    PhosphoSitei Q9H3M9.

    Polymorphism databases

    DMDMi 122055954.

    Proteomic databases

    PaxDbi Q9H3M9.
    PRIDEi Q9H3M9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000380622 ; ENSP00000369996 ; ENSG00000123594 .
    GeneIDi 92552.
    KEGGi hsa:92552.
    UCSCi uc010ned.3. human.

    Organism-specific databases

    CTDi 92552.
    GeneCardsi GC0XM013336.
    HGNCi HGNC:24173. ATXN3L.
    HPAi HPA024123.
    HPA027539.
    MIMi 300920. gene.
    neXtProti NX_Q9H3M9.
    PharmGKBi PA134884147.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG327234.
    HOGENOMi HOG000006034.
    HOVERGENi HBG025648.
    InParanoidi Q9H3M9.
    KOi K11863.
    OMAi NALKFWG.
    OrthoDBi EOG779NZ3.
    PhylomeDBi Q9H3M9.
    TreeFami TF314228.

    Miscellaneous databases

    GenomeRNAii 92552.
    NextBioi 77788.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9H3M9.
    Genevestigatori Q9H3M9.

    Family and domain databases

    InterProi IPR006155. Josephin.
    IPR003903. Ubiquitin-int_motif.
    [Graphical view ]
    Pfami PF02099. Josephin. 1 hit.
    PF02809. UIM. 2 hits.
    [Graphical view ]
    PRINTSi PR01233. JOSEPHIN.
    SMARTi SM00726. UIM. 2 hits.
    [Graphical view ]
    PROSITEi PS50957. JOSEPHIN. 1 hit.
    PS50330. UIM. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ASP-332.
    3. "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], VARIANT ASP-332.
    4. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 10-355, VARIANT ASP-332.
    5. "Crystal structure of a Josephin-ubiquitin complex: evolutionary restraints on ataxin-3 deubiquitinating activity."
      Weeks S.D., Grasty K.C., Hernandez-Cuebas L., Loll P.J.
      J. Biol. Chem. 286:4555-4565(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF 1-190 IN COMPLEX WITH UBIQUITIN, CATALYTIC ACTIVITY, ACTIVE SITE.

    Entry informationi

    Entry nameiATX3L_HUMAN
    AccessioniPrimary (citable) accession number: Q9H3M9
    Secondary accession number(s): B2RNY8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 9, 2007
    Last sequence update: January 9, 2007
    Last modified: October 1, 2014
    This is version 86 of the entry and version 2 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

    Caution

    Could be the product of a pseudogene. Suggested by the absence of intron.Curated

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3