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    ATXN7L1 ataxin 7 like 1 [ Homo sapiens (human) ]

    Gene ID: 222255, updated on 23-Nov-2021

    Summary

    Official Symbol
    ATXN7L1provided by HGNC
    Official Full Name
    ataxin 7 like 1provided by HGNC
    Primary source
    HGNC:HGNC:22210
    See related
    Ensembl:ENSG00000146776
    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
    ATXN7L4
    Expression
    Ubiquitous expression in testis (RPKM 2.9), kidney (RPKM 1.4) and 24 other tissues See more
    Orthologs
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    Genomic context

    See ATXN7L1 in Genome Data Viewer
    Location:
    7q22.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (105604772..105876599, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (105245219..105517045, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12225 Neighboring gene Y-box binding protein 1 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 5075 Neighboring gene Sharpr-MPRA regulatory region 14333 Neighboring gene ribosomal protein L13a pseudogene 16 Neighboring gene cadherin related family member 3 Neighboring gene uncharacterized LOC107986833 Neighboring gene Sharpr-MPRA regulatory region 14293

    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

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.
    GeneReviews: Not available
    GWAS of dental caries patterns in the permanent dentition.
    GeneReviews: Not available
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ40255, FLJ58242, KIAA1218, MGC10760, MGC33190

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    ataxin-7-like protein 1
    Names
    ataxin 7-like 4
    ataxin-7-like protein 4

    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_001318229.2NP_001305158.1  ataxin-7-like protein 1 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has multiple differences in the coding region and UTRs compared to variant 1. These differences result in the use of a downstream in-frame start codon and a distinct 3' coding region. The encoded isoform (4) has a shorter N-terminus and a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC003517, BC055009, BQ227169, BQ436521
      UniProtKB/TrEMBL
      Q9BTQ8
      Conserved Domains (1) summary
      pfam08313
      Location:61127
      SCA7; SCA7, zinc-binding domain
    2. NM_001385596.1NP_001372525.1  ataxin-7-like protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC005099, AC007030, AC073073
      Conserved Domains (1) summary
      pfam08313
      Location:283343
      SCA7; zinc-binding domain
    3. NM_020725.2NP_065776.1  ataxin-7-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_065776.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC005099, AC007030, AC073073
      Consensus CDS
      CCDS47682.1
      UniProtKB/Swiss-Prot
      Q9ULK2
      Related
      ENSP00000410759.3, ENST00000419735.8
      Conserved Domains (1) summary
      pfam08313
      Location:277343
      SCA7; SCA7, zinc-binding domain
    4. NM_138495.2NP_612504.1  ataxin-7-like protein 1 isoform 3

      See identical proteins and their annotated locations for NP_612504.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has multiple differences in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream in-frame ATG and an isoform (3) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC073073, AK300338
      Consensus CDS
      CCDS47683.1
      UniProtKB/Swiss-Prot
      Q9ULK2
      Related
      ENSP00000418476.1, ENST00000477775.5
      Conserved Domains (1) summary
      pfam08313
      Location:153219
      SCA7; SCA7, zinc-binding domain
    5. NM_152749.3NP_689962.1  ataxin-7-like protein 1 isoform 2

      See identical proteins and their annotated locations for NP_689962.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon at its 3' coding region and 3' UTR and lacks all other 3' exons, compared to variant 1. This results in an isoform (2) with a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC030616, BP339600, BQ431139
      Consensus CDS
      CCDS34727.1
      UniProtKB/Swiss-Prot
      Q9ULK2
      Related
      ENSP00000326344.4, ENST00000318724.8

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      105604772..105876599 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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