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Q9H3M9

- ATX3L_HUMAN

UniProt

Q9H3M9 - ATX3L_HUMAN

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Protein

Putative ataxin-3-like protein

Gene
ATXN3L, ATX3L, MJDL
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Protein uncertaini

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 – 141Nucleophile By similarity
Active sitei119 – 1191Proton acceptor By similarity
Active sitei134 – 1341 By similarity

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
Complete GO annotation...

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
Complete GO annotation...

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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1 – 180180JosephinAdd
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.

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

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti101 – 1011K → M in BAB18799. 1 Publication
Sequence conflicti314 – 3141P → A in BAB18799. 1 Publication

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 85 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.

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

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