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Q9H3M9 (ATX3L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Putative ataxin-3-like protein

EC=3.4.19.12
Alternative name(s):
Machado-Joseph disease protein 1-like
Gene names
Name:ATXN3L
Synonyms:ATX3L, MJDL
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length355 AA.
Sequence statusComplete.
Protein existenceUncertain

General annotation (Comments)

Function

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

Catalytic activity

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). Ref.5

Subcellular location

Nucleus By similarity.

Sequence similarities

Contains 1 Josephin domain.

Contains 2 UIM (ubiquitin-interacting motif) repeats.

Caution

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

Ontologies

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 355355Putative ataxin-3-like protein
PRO_0000271099

Regions

Domain1 – 180180Josephin
Repeat224 – 24320UIM 1
Repeat244 – 25815UIM 2
Compositional bias291 – 30010Poly-Gln

Sites

Active site141Nucleophile By similarity
Active site1191Proton acceptor By similarity
Active site1341 By similarity

Natural variations

Natural variant2661L → F.
Corresponds to variant rs16999010 [ dbSNP | Ensembl ].
VAR_029861
Natural variant3321G → D. Ref.2 Ref.3 Ref.4
Corresponds to variant rs4830842 [ dbSNP | Ensembl ].
VAR_029862

Experimental info

Sequence conflict1011K → M in BAB18799. Ref.4
Sequence conflict3141P → A in BAB18799. Ref.4

Secondary structure

.................................... 355
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q9H3M9 [UniParc].

Last modified January 9, 2007. Version 2.
Checksum: EE5097A6E4476D75

FASTA35540,747
        10         20         30         40         50         60 
MDFIFHEKQE GFLCAQHCLN NLLQGEYFSP VELASIAHQL DEEERMRMAE GGVTSEEYLA 

        70         80         90        100        110        120 
FLQQPSENMD DTGFFSIQVI SNALKFWGLE IIHFNNPEYQ KLGIDPINER SFICNYKQHW 

       130        140        150        160        170        180 
FTIRKFGKHW FNLNSLLAGP ELISDTCLAN FLARLQQQAY SVFVVKGDLP DCEADQLLQI 

       190        200        210        220        230        240 
ISVEEMDTPK LNGKKLVKQK EHRVYKTVLE KVSEESDESG TSDQDEEDFQ RALELSRQET 

       250        260        270        280        290        300 
NREDEHLRST IELSMQGSSG NTSQDLPKTS CVTPASEQPK KIKEDYFEKH QQEQKQQQQQ 

       310        320        330        340        350 
SDLPGHSSYL HERPTTSSRA IESDLSDDIS EGTVQAAVDT ILEIMRKNLK IKGEK 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"The genomic structure and expression of MJD, the Machado-Joseph disease gene."
Ichikawa Y., Goto J., Hattori M., Toyoda A., Ishii K., Jeong S.-Y., Hashida H., Masuda N., Ogata K., Kasai F., Hirai M., Maciel P., Rouleau G.A., Sakaki Y., Kanazawa I.
J. Hum. Genet. 46:413-422(2001) [PubMed] [Europe PMC] [Abstract]
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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS48080.1.
RefSeqNP_001129467.1. NM_001135995.1.
UniGeneHs.382641.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3O65X-ray2.70A/C/E/G1-190[»]
ProteinModelPortalQ9H3M9.
SMRQ9H3M9. Positions 1-186.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124954. 7 interactions.
STRING9606.ENSP00000369996.

Protein family/group databases

MEROPSC86.002.

PTM databases

PhosphoSiteQ9H3M9.

Polymorphism databases

DMDM122055954.

Proteomic databases

PaxDbQ9H3M9.
PRIDEQ9H3M9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000380622; ENSP00000369996; ENSG00000123594.
GeneID92552.
KEGGhsa:92552.
UCSCuc010ned.3. human.

Organism-specific databases

CTD92552.
GeneCardsGC0XM013336.
HGNCHGNC:24173. ATXN3L.
HPAHPA024123.
HPA027539.
MIM300920. gene.
neXtProtNX_Q9H3M9.
PharmGKBPA134884147.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG327234.
HOGENOMHOG000006034.
HOVERGENHBG025648.
InParanoidQ9H3M9.
KOK11863.
OMANALKFWG.
OrthoDBEOG779NZ3.
PhylomeDBQ9H3M9.
TreeFamTF314228.

Gene expression databases

BgeeQ9H3M9.
GenevestigatorQ9H3M9.

Family and domain databases

InterProIPR006155. Josephin.
IPR003903. Ubiquitin-int_motif.
[Graphical view]
PfamPF02099. Josephin. 1 hit.
PF02809. UIM. 2 hits.
[Graphical view]
PRINTSPR01233. JOSEPHIN.
SMARTSM00726. UIM. 2 hits.
[Graphical view]
PROSITEPS50957. JOSEPHIN. 1 hit.
PS50330. UIM. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi92552.
NextBio77788.
SOURCESearch...

Entry information

Entry nameATX3L_HUMAN
AccessionPrimary (citable) accession number: Q9H3M9
Secondary accession number(s): B2RNY8
Entry history
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 statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM