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    ATXN1L ataxin 1 like [ Homo sapiens (human) ]

    Gene ID: 342371, updated on 9-Dec-2024

    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; POZ domain binding activity; and RNA binding activity. Predicted to be involved in learning or memory; regulation of DNA-templated transcription; 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, Dec 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 17.2), kidney (RPKM 12.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ATXN1L in Genome Data Viewer
    Location:
    16q22.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (71845976..71857328)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (77663121..77674477)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (71879879..71891231)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:71841868-71842515 Neighboring gene uncharacterized LOC124903714 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11079 Neighboring gene tripartite motif containing 13 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11080 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:71878951-71879723 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:71879724-71880495 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:71884603-71885382 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11083 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11084 Neighboring gene zinc finger protein 821 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11085 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7686 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7687 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:71918951-71919451 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:71929209-71929774 Neighboring gene IST1 factor associated with ESCRT-III Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11088 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:71971508-71972085 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

    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 POZ domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in brain development IBA
    Inferred from Biological aspect of Ancestor
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of hematopoietic stem cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    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
     

    General protein information

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

    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_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: GCF_000001405.40-RS_2024_08

    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.