Format

Send to:

Choose Destination

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

Gene ID: 56970, updated on 7-Jun-2020

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:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (44191805..44199884, 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 homologous recombination factor with OB-fold 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 Sharpr-MPRA regulatory region 8559 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 PubChem

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_001382308.1NP_001369237.1  ataxin-7-like protein 3 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1), as well as variant 3, encodes isoform a.
    Source sequence(s)
    AC004596
    Consensus CDS
    CCDS45697.1
  2. NM_001382309.1NP_001369238.1  ataxin-7-like protein 3 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2), as well as variants 4, 5, and 6, encodes isoform b.
    Source sequence(s)
    AC004596
    Consensus CDS
    CCDS42345.1
  3. NM_001382310.1NP_001369239.1  ataxin-7-like protein 3 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3), as well as variant 1, encodes isoform a.
    Source sequence(s)
    AC004596
  4. NM_001382311.1NP_001369240.1  ataxin-7-like protein 3 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4), as well as variants 2, 5, and 6, encodes isoform b.
    Source sequence(s)
    AC004596
  5. NM_001382312.1NP_001369241.1  ataxin-7-like protein 3 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5), as well as variants 2, 4, and 6, encodes isoform b.
    Source sequence(s)
    AC004596
  6. NM_001382313.1NP_001369242.1  ataxin-7-like protein 3 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6), as well as variants 2, 4, and 5, encodes isoform b.
    Source sequence(s)
    AC004596
  7. NM_001382314.1NP_001369243.1  ataxin-7-like protein 3 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7), as well as variant 8, encodes isoform c.
    Source sequence(s)
    AC004596
  8. NM_001382315.1NP_001369244.1  ataxin-7-like protein 3 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8), as well as variant 7, encodes isoform c.
    Source sequence(s)
    AC004596
  9. NM_001382316.1NP_001369245.1  ataxin-7-like protein 3 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9), encodes the longest isoform (d).
    Source sequence(s)
    AC004596

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    44191805..44199884 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001098833.1: Suppressed sequence

    Description
    NM_001098833.1: This RefSeq was removed because currently there is insufficient support for the transcript.
  2. NM_020218.1: Suppressed sequence

    Description
    NM_020218.1: This RefSeq was removed because currently there is insufficient support for the transcript.
Support Center