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ATXN1L ataxin 1 like [ Homo sapiens (human) ]

Gene ID: 342371, updated on 23-Jun-2022

Summary

Official Symbol
ATXN1Lprovided by HGNC
Official Full Name
ataxin 1 likeprovided by HGNC
Primary source
HGNC:HGNC:33279
See related
Ensembl:ENSG00000224470 MIM:614301; AllianceGenome:HGNC:33279
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
BOAT; BOAT1
Summary
Predicted to enable DNA binding activity and RNA binding activity. Predicted to be involved in several processes, including learning or memory; regulation of transcription, DNA-templated; and social behavior. Predicted to act upstream of or within several processes, including lung alveolus development; negative regulation of transcription by RNA polymerase II; and positive regulation of hematopoietic stem cell proliferation. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bone marrow (RPKM 17.2), kidney (RPKM 12.6) and 25 other tissues See more
Orthologs
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Genomic context

See ATXN1L in Genome Data Viewer
Location:
16q22.2
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (71845976..71857328)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (77663121..77674477)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (71879879..71891231)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903714 Neighboring gene tripartite motif containing 13 pseudogene Neighboring gene zinc finger protein 821 Neighboring gene IST1 factor associated with ESCRT-III Neighboring gene polycystin 1 like 3, transient receptor potential channel interacting Neighboring gene ribosomal protein L39 pseudogene 31

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: IST1

Homology

Clone Names

  • FLJ21460, FLJ21686, DKFZp667N0214, DKFZp686O1195, DKFZp686D05115

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables RNA binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in anatomical structure development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in brain development IEA
Inferred from Electronic Annotation
more info
 
involved_in extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
 
involved_in learning ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in lung alveolus development IEA
Inferred from Electronic Annotation
more info
 
involved_in memory ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of hematopoietic stem cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in social behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in dendrite IEA
Inferred from Electronic Annotation
more info
 
located_in nucleolus IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ataxin-1-like
Names
brother of ATXN1
brother of ataxin-1

NCBI Reference Sequences (RefSeq)

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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_001137675.4NP_001131147.1  ataxin-1-like

    See identical proteins and their annotated locations for NP_001131147.1

    Status: VALIDATED

    Source sequence(s)
    AC010653, AI720164, DB097328
    Consensus CDS
    CCDS45523.1
    UniProtKB/Swiss-Prot
    P0C7T5
    Related
    ENSP00000415822.2, ENST00000427980.7
    Conserved Domains (1) summary
    pfam08517
    Location:475579
    AXH; Ataxin-1 and HBP1 module (AXH)

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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    71845976..71857328
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    77663121..77674477
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_024612.1: Suppressed sequence

    Description
    NR_024612.1: This RefSeq was permanently suppressed because it represents a partial readthrough transcript with downstream GeneID:342371, and the nature of its 3' end is unclear.