Format

Send to:

Choose Destination

ATXN7L3 ataxin 7 like 3 [ Homo sapiens (human) ]

Gene ID: 56970, updated on 13-Feb-2019

Summary

Official Symbol
ATXN7L3provided by HGNC
Official Full Name
ataxin 7 like 3provided by HGNC
Primary source
HGNC:HGNC:25416
See related
Ensembl:ENSG00000087152
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Ubiquitous expression in brain (RPKM 19.9), testis (RPKM 15.6) and 25 other tissues See more
Orthologs

Genomic context

See ATXN7L3 in Genome Data Viewer
Location:
17q21.31
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (44191805..44199976, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42269173..42275747, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene chromosome 17 open reading frame 53 Neighboring gene ankyrin repeat and SOCS box containing 16 Neighboring gene ASB16 antisense RNA 1 Neighboring gene transmembrane and ubiquitin like domain containing 2 Neighboring gene uncharacterized LOC101926967 Neighboring gene microRNA 6782 Neighboring gene upstream binding transcription factor Neighboring gene SHC adaptor protein 1 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Pathways from BioSystems

  • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
    Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
  • Chromatin organization, organism-specific biosystem (from REACTOME)
    Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
  • HATs acetylate histones, organism-specific biosystem (from REACTOME)
    HATs acetylate histones, organism-specific biosystemHistone acetyltransferases (HATs) involved in histone modifications are referred to as A-type or nuclear HATs. They can be grouped into at least four families based on sequence conservation within th...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp761G2113

Gene Ontology Provided by GOA

Function Evidence Code Pubs
nuclear receptor transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
histone deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
histone monoubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
DUBm complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DUBm complex IDA
Inferred from Direct Assay
more info
PubMed 
SAGA complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SAGA complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001098833.1NP_001092303.1  ataxin-7-like protein 3 isoform b

    See identical proteins and their annotated locations for NP_001092303.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    BC024695, BC113595
    Consensus CDS
    CCDS42345.1
    UniProtKB/Swiss-Prot
    Q14CW9
    Related
    ENSP00000374035.3, ENST00000389384.8
    Conserved Domains (2) summary
    pfam08209
    Location:80112
    Sgf11; Sgf11 (transcriptional regulation protein)
    pfam08313
    Location:208237
    SCA7; SCA7, zinc-binding domain
  2. NM_020218.1NP_064603.1  ataxin-7-like protein 3 isoform a

    See identical proteins and their annotated locations for NP_064603.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    BC024695, BC037418, BC113595
    Consensus CDS
    CCDS45697.1
    UniProtKB/Swiss-Prot
    Q14CW9
    Related
    ENSP00000397259.1, ENST00000454077.6
    Conserved Domains (2) summary
    pfam08209
    Location:80112
    Sgf11; Sgf11 (transcriptional regulation protein)
    pfam08313
    Location:215244
    SCA7; SCA7, zinc-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    44191805..44199976 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024881.1XP_016880370.1  ataxin-7-like protein 3 isoform X1

    Conserved Domains (2) summary
    pfam08209
    Location:87119
    Sgf11; Sgf11 (transcriptional regulation protein)
    pfam08313
    Location:241270
    SCA7; SCA7, zinc-binding domain
  2. XM_017024886.1XP_016880375.1  ataxin-7-like protein 3 isoform X8

    UniProtKB/Swiss-Prot
    Q14CW9
    Related
    ENSP00000465614.1, ENST00000587097.5
    Conserved Domains (2) summary
    pfam08209
    Location:80112
    Sgf11; Sgf11 (transcriptional regulation protein)
    pfam08313
    Location:208237
    SCA7; SCA7, zinc-binding domain
  3. XM_017024885.1XP_016880374.1  ataxin-7-like protein 3 isoform X7

    UniProtKB/Swiss-Prot
    Q14CW9
    Conserved Domains (2) summary
    pfam08209
    Location:80112
    Sgf11; Sgf11 (transcriptional regulation protein)
    pfam08313
    Location:215244
    SCA7; SCA7, zinc-binding domain
  4. XM_017024883.1XP_016880372.1  ataxin-7-like protein 3 isoform X3

    Conserved Domains (2) summary
    pfam08209
    Location:80112
    Sgf11; Sgf11 (transcriptional regulation protein)
    pfam08313
    Location:234263
    SCA7; SCA7, zinc-binding domain
  5. XM_024450839.1XP_024306607.1  ataxin-7-like protein 3 isoform X3

    Conserved Domains (2) summary
    pfam08209
    Location:80112
    Sgf11; Sgf11 (transcriptional regulation protein)
    pfam08313
    Location:234263
    SCA7; SCA7, zinc-binding domain
  6. XM_017024880.2XP_016880369.1  ataxin-7-like protein 3 isoform X1

    Conserved Domains (2) summary
    pfam08209
    Location:87119
    Sgf11; Sgf11 (transcriptional regulation protein)
    pfam08313
    Location:241270
    SCA7; SCA7, zinc-binding domain
  7. XM_011525046.3XP_011523348.1  ataxin-7-like protein 3 isoform X6

    See identical proteins and their annotated locations for XP_011523348.1

    Conserved Domains (2) summary
    pfam08209
    Location:87119
    Sgf11; Sgf11 (transcriptional regulation protein)
    pfam08313
    Location:215244
    SCA7; SCA7, zinc-binding domain
  8. XM_017024882.2XP_016880371.1  ataxin-7-like protein 3 isoform X2

    Conserved Domains (2) summary
    pfam08209
    Location:87119
    Sgf11; Sgf11 (transcriptional regulation protein)
    pfam08313
    Location:234263
    SCA7; SCA7, zinc-binding domain
  9. XM_011525044.3XP_011523346.1  ataxin-7-like protein 3 isoform X5

    See identical proteins and their annotated locations for XP_011523346.1

    Conserved Domains (2) summary
    pfam08209
    Location:87119
    Sgf11; Sgf11 (transcriptional regulation protein)
    pfam08313
    Location:222251
    SCA7; SCA7, zinc-binding domain
  10. XM_011525038.3XP_011523340.1  ataxin-7-like protein 3 isoform X1

    See identical proteins and their annotated locations for XP_011523340.1

    Conserved Domains (2) summary
    pfam08209
    Location:87119
    Sgf11; Sgf11 (transcriptional regulation protein)
    pfam08313
    Location:241270
    SCA7; SCA7, zinc-binding domain
  11. XM_017024884.1XP_016880373.1  ataxin-7-like protein 3 isoform X4

    Conserved Domains (2) summary
    pfam08209
    Location:80112
    Sgf11; Sgf11 (transcriptional regulation protein)
    pfam08313
    Location:227256
    SCA7; SCA7, zinc-binding domain
Support Center