U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 56970, updated on 8-Dec-2022

Summary

Official Symbol
ATXN7L3provided by HGNC
Official Full Name
ataxin 7 like 3provided by HGNC
Primary source
HGNC:HGNC:25416
See related
Ensembl:ENSG00000087152 MIM:619010; AllianceGenome:HGNC:25416
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
Also known as
SGF11
Summary
Enables nuclear receptor coactivator activity. Involved in histone deubiquitination; histone monoubiquitination; and positive regulation of transcription, DNA-templated. Located in nucleus. Part of DUBm complex and SAGA complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 19.9), testis (RPKM 15.6) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See ATXN7L3 in Genome Data Viewer
Location:
17q21.31
Exon count:
14
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44191805..44199884, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (45044907..45052987, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42269173..42277252, 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 H3K4me1 hESC enhancer GRCh37_chr17:42275147-42276069 Neighboring gene Sharpr-MPRA regulatory region 7848 Neighboring gene microRNA 6782 Neighboring gene upstream binding transcription factor

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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
enables nuclear receptor coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in chromatin organization IEA
Inferred from Electronic Annotation
more info
 
involved_in histone H3 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in histone H3 acetylation NAS
Non-traceable Author Statement
more info
PubMed 
involved_in histone deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in histone monoubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in monoubiquitinated histone H2A deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in monoubiquitinated histone H2A deubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in monoubiquitinated histone deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in monoubiquitinated histone deubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of DNA-templated transcription NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of DNA repair NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of RNA splicing NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
part_of DUBm complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of DUBm complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of SAGA complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of SAGA complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of SAGA complex NAS
Non-traceable Author Statement
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
part_of transcription factor TFTC complex NAS
Non-traceable Author Statement
more info
PubMed 

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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
    Conserved Domains (2) summary
    pfam08209
    Location:80112
    Sgf11; Sgf11 (transcriptional regulation protein)
    pfam08313
    Location:215244
    SCA7; zinc-binding domain
  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
    UniProtKB/Swiss-Prot
    Q9NPU5
    Related
    ENSP00000465614.2, ENST00000587097.6
    Conserved Domains (2) summary
    pfam08209
    Location:80112
    Sgf11; Sgf11 (transcriptional regulation protein)
    pfam08313
    Location:208237
    SCA7; zinc-binding domain
  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
    Consensus CDS
    CCDS45697.1
    Related
    ENSP00000397259.1, ENST00000454077.6
    Conserved Domains (2) summary
    pfam08209
    Location:80112
    Sgf11; Sgf11 (transcriptional regulation protein)
    pfam08313
    Location:215244
    SCA7; zinc-binding domain
  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
    Consensus CDS
    CCDS42345.1
    UniProtKB/Swiss-Prot
    Q9NPU5
    Related
    ENSP00000374035.3, ENST00000389384.8
    Conserved Domains (2) summary
    pfam08209
    Location:80112
    Sgf11; Sgf11 (transcriptional regulation protein)
    pfam08313
    Location:208237
    SCA7; zinc-binding domain
  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
    Consensus CDS
    CCDS42345.1
    UniProtKB/Swiss-Prot
    Q9NPU5
    Conserved Domains (2) summary
    pfam08209
    Location:80112
    Sgf11; Sgf11 (transcriptional regulation protein)
    pfam08313
    Location:208237
    SCA7; zinc-binding domain
  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
    Consensus CDS
    CCDS42345.1
    UniProtKB/Swiss-Prot
    Q9NPU5
    Conserved Domains (2) summary
    pfam08209
    Location:80112
    Sgf11; Sgf11 (transcriptional regulation protein)
    pfam08313
    Location:208237
    SCA7; zinc-binding domain
  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
    Conserved Domains (2) summary
    pfam08209
    Location:87119
    Sgf11; Sgf11 (transcriptional regulation protein)
    pfam08313
    Location:215244
    SCA7; zinc-binding domain
  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
    Conserved Domains (2) summary
    pfam08209
    Location:87119
    Sgf11; Sgf11 (transcriptional regulation protein)
    pfam08313
    Location:215244
    SCA7; zinc-binding domain
  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
    Conserved Domains (2) summary
    pfam08209
    Location:80112
    Sgf11; Sgf11 (transcriptional regulation protein)
    pfam08313
    Location:227256
    SCA7; zinc-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    45044907..45052987 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.