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Protein

Ataxin-7-like protein 3B

Gene

ATXN7L3B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

By binding to ENY2, interferes with the nuclear functions of the deubiquitinase (DUB) module of the SAGA complex which consists of ENY2, ATXN7, ATXN7L3 and the histone deubiquitinating component USP22. Affects USP22 DUB activity toward histones indirectly by changing the subcellular distribution of ENY2 and altering ENY2 availability for ATXN7L3 interaction. Regulates H2B monoubiquitination (H2Bub1) levels through cytoplasmic sequestration of ENY2 resulting in loss of nuclear ENY2-ATXN7L3 association which destabilizes ATXN7L3. Affects protein expression levels of ENY2 and ATXN7L3.1 Publication

Miscellaneous

Encoded by an expressed retrotransposed copy of the ATXN7L3 locus that emerged prior to the speciation event separating primates and rodents.

Names & Taxonomyi

Protein namesi
Recommended name:
Ataxin-7-like protein 3B
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000253719.3.
HGNCiHGNC:37931. ATXN7L3B.

Subcellular locationi

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving ATXN7L3B has been found in a mother and her two children with varying degrees of neurodevelopmental delay and cerebellar ataxia. One child also exhibits episodes of unresponsiveness suggestive of absence seizures and facial dysmorphism. Deletion at 12q21.1 deletes the entire single exon of ATXN7L3B.1 Publication

Organism-specific databases

DisGeNETi552889.
OpenTargetsiENSG00000253719.
PharmGKBiPA165512339.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003925291 – 97Ataxin-7-like protein 3BAdd BLAST97

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei92PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96GX2.
MaxQBiQ96GX2.
PaxDbiQ96GX2.
PeptideAtlasiQ96GX2.
PRIDEiQ96GX2.

PTM databases

iPTMnetiQ96GX2.
PhosphoSitePlusiQ96GX2.

Expressioni

Gene expression databases

BgeeiENSG00000253719.
GenevisibleiQ96GX2. HS.

Organism-specific databases

HPAiHPA056612.

Interactioni

Subunit structurei

Interacts strongly with ENY2. Interacts weakly with USP22.1 Publication

Protein-protein interaction databases

BioGridi139266. 5 interactors.
IntActiQ96GX2. 1 interactor.

Structurei

3D structure databases

ProteinModelPortaliQ96GX2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the SGF11 family.Curated

Phylogenomic databases

eggNOGiENOG410J4EX. Eukaryota.
ENOG41114JE. LUCA.
GeneTreeiENSGT00390000012202.
InParanoidiQ96GX2.
OMAiVEEKGAC.
OrthoDBiEOG091G0LQK.
PhylomeDBiQ96GX2.
TreeFamiTF353123.

Sequencei

Sequence statusi: Complete.

Q96GX2-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEEISLANLD TNKLEAIAQE IYVDLIEDSC LGFCFEVHRA VKCGYFYLEF
60 70 80 90
AETGSVKDFG IQPVEDKGAC RLPLCSLPGE PGNGPDQQLQ RSPPEFQ
Length:97
Mass (Da):10,771
Last modified:March 23, 2010 - v2
Checksum:i722ADB410FCEFC9A
GO

Sequence cautioni

The sequence AAH09111 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC025257 Genomic DNA. No translation available.
BC009111 mRNA. Translation: AAH09111.1. Sequence problems.
CCDSiCCDS53815.1.
RefSeqiNP_001129734.1. NM_001136262.1.
UniGeneiHs.744849.

Genome annotation databases

EnsembliENST00000519948; ENSP00000430000; ENSG00000253719.
GeneIDi552889.
KEGGihsa:552889.
UCSCiuc001sxd.5. human.

Keywords - Coding sequence diversityi

Chromosomal rearrangement

Similar proteinsi

Entry informationi

Entry nameiA7L3B_HUMAN
AccessioniPrimary (citable) accession number: Q96GX2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 23, 2010
Last sequence update: March 23, 2010
Last modified: November 22, 2017
This is version 83 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families