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Protein

Ataxin-3-like protein

Gene

ATXN3L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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)DescriptionActionsGraphical viewLength
Active sitei14NucleophilePROSITE-ProRule annotation1
Active sitei119Proton acceptorPROSITE-ProRule annotation1
Active sitei134PROSITE-ProRule annotation1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase, Protease, Thiol protease
Biological processTranscription, Transcription regulation, Ubl conjugation pathway

Enzyme and pathway databases

ReactomeiR-HSA-5689877. Josephin domain DUBs.

Protein family/group databases

MEROPSiC86.002.

Names & Taxonomyi

Protein namesi
Recommended name:
Ataxin-3-like proteinCurated (EC:3.4.19.12)
Alternative name(s):
Machado-Joseph disease protein 1-like
Gene namesi
Name:ATXN3LImported
Synonyms:ATX3L, MJDL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000123594.4.
HGNCiHGNC:24173. ATXN3L.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi92552.
OpenTargetsiENSG00000123594.
PharmGKBiPA134884147.

Polymorphism and mutation databases

BioMutaiATXN3L.
DMDMi122055954.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002710991 – 355Ataxin-3-like proteinAdd BLAST355

Proteomic databases

EPDiQ9H3M9.
PaxDbiQ9H3M9.
PeptideAtlasiQ9H3M9.
PRIDEiQ9H3M9.

PTM databases

iPTMnetiQ9H3M9.
PhosphoSitePlusiQ9H3M9.

Expressioni

Gene expression databases

BgeeiENSG00000123594.
ExpressionAtlasiQ9H3M9. baseline and differential.
GenevisibleiQ9H3M9. HS.

Organism-specific databases

HPAiHPA027539.

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi124954. 8 interactors.
STRINGi9606.ENSP00000369996.

Structurei

Secondary structure

1355
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi14 – 23Combined sources10
Helixi30 – 48Combined sources19
Helixi49 – 51Combined sources3
Helixi56 – 62Combined sources7
Beta strandi67 – 69Combined sources3
Helixi77 – 85Combined sources9
Turni86 – 88Combined sources3
Beta strandi90 – 93Combined sources4
Helixi97 – 101Combined sources5
Helixi106 – 108Combined sources3
Beta strandi111 – 118Combined sources8
Beta strandi120 – 126Combined sources7
Beta strandi129 – 132Combined sources4
Beta strandi137 – 139Combined sources3
Beta strandi141 – 143Combined sources3
Helixi145 – 152Combined sources8
Helixi153 – 156Combined sources4
Beta strandi160 – 167Combined sources8
Helixi173 – 178Combined sources6

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3O65X-ray2.70A/C/E/G1-190[»]
ProteinModelPortaliQ9H3M9.
SMRiQ9H3M9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 180JosephinPROSITE-ProRule annotationAdd BLAST180
Domaini224 – 243UIM 1PROSITE-ProRule annotationAdd BLAST20
Domaini244 – 258UIM 2PROSITE-ProRule annotationAdd BLAST15

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi291 – 300Poly-Gln10

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG2935. Eukaryota.
ENOG4111G4B. LUCA.
GeneTreeiENSGT00390000001830.
HOGENOMiHOG000006034.
HOVERGENiHBG025648.
InParanoidiQ9H3M9.
KOiK11863.
OMAiNALKFWG.
OrthoDBiEOG091G0OC6.
PhylomeDBiQ9H3M9.
TreeFamiTF314228.

Family and domain databases

InterProiView protein in InterPro
IPR033865. Ataxin-3.
IPR006155. Josephin.
IPR003903. UIM_dom.
PANTHERiPTHR14159. PTHR14159. 1 hit.
PfamiView protein in Pfam
PF02099. Josephin. 1 hit.
SMARTiView protein in SMART
SM01246. Josephin. 1 hit.
SM00726. UIM. 2 hits.
PROSITEiView protein in PROSITE
PS50957. JOSEPHIN. 1 hit.
PS50330. UIM. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9H3M9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDFIFHEKQE GFLCAQHCLN NLLQGEYFSP VELASIAHQL DEEERMRMAE
60 70 80 90 100
GGVTSEEYLA FLQQPSENMD DTGFFSIQVI SNALKFWGLE IIHFNNPEYQ
110 120 130 140 150
KLGIDPINER SFICNYKQHW FTIRKFGKHW FNLNSLLAGP ELISDTCLAN
160 170 180 190 200
FLARLQQQAY SVFVVKGDLP DCEADQLLQI ISVEEMDTPK LNGKKLVKQK
210 220 230 240 250
EHRVYKTVLE KVSEESDESG TSDQDEEDFQ RALELSRQET NREDEHLRST
260 270 280 290 300
IELSMQGSSG NTSQDLPKTS CVTPASEQPK KIKEDYFEKH QQEQKQQQQQ
310 320 330 340 350
SDLPGHSSYL HERPTTSSRA IESDLSDDIS EGTVQAAVDT ILEIMRKNLK

IKGEK
Length:355
Mass (Da):40,747
Last modified:January 9, 2007 - v2
Checksum:iEE5097A6E4476D75
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti101K → M in BAB18799 (PubMed:11450850).Curated1
Sequence conflicti314P → A in BAB18799 (PubMed:11450850).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_029861266L → F. Corresponds to variant dbSNP:rs16999010Ensembl.1
Natural variantiVAR_029862332G → D3 PublicationsCorresponds to variant dbSNP:rs4830842Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiATX3L_HUMAN
AccessioniPrimary (citable) accession number: Q9H3M9
Secondary accession number(s): B2RNY8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: January 9, 2007
Last modified: September 27, 2017
This is version 113 of the entry and version 2 of the sequence. See 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

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