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

    Gene ID: 222255, updated on 19-Sep-2024

    Summary

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    Official Symbol
    ATXN7L1provided by HGNC
    Official Full Name
    ataxin 7 like 1provided by HGNC
    Primary source
    HGNC:HGNC:22210
    See related
    Ensembl:ENSG00000146776 AllianceGenome:HGNC:22210
    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
    mouse all
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    Genomic context

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    See ATXN7L1 in Genome Data Viewer
    Location:
    7q22.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (105604772..105876599, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (106918950..107191449, complement)
    RS_2024_09 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 EFCAB10 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105221332-105221844 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105221845-105222355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26467 Neighboring gene Sharpr-MPRA regulatory region 14983 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105241179-105241956 Neighboring gene EF-hand calcium binding domain 10 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105255907-105256408 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105256409-105256908 Neighboring gene Y-box binding protein 1 pseudogene 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105279303-105279964 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105281471-105282438 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:105288402-105288618 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:105288629-105289828 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105293127-105293850 Neighboring gene Sharpr-MPRA regulatory region 7350 Neighboring gene Sharpr-MPRA regulatory region 5075 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105316356-105316856 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105319379-105320318 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105321123-105321622 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105329697-105330372 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105329021-105329696 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105330373-105331048 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:105331049-105331724 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105331725-105332400 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105335755-105336518 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:105337283-105338044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26470 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105409403-105409904 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105409905-105410404 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105412749-105413248 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:105416274-105417473 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:105423855-105424084 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105428411-105428946 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105432252-105432810 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105432811-105433367 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:105434917-105436116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:105437186-105437686 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26475 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:105470396-105471595 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105478644-105479500 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105477786-105478643 Neighboring gene ribosomal protein L13a pseudogene 16 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105494345-105495094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18524 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:105525198-105525381 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:105528806-105529002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:105596161-105596662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:105596663-105597162 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105602263-105603214 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105603215-105604166 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105631053-105631700 Neighboring gene uncharacterized LOC107986833 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18525 Neighboring gene cadherin related family member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:105671382-105671882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:105683076-105683576 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26477 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:105698686-105699237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26480 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26482 Neighboring gene Sharpr-MPRA regulatory region 14293 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105720431-105720970 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105720971-105721508 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105751988-105752820 Neighboring gene synaptophysin like 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene. Cummings AC, et al. Ann Hum Genet, 2012 Sep. PMID 22881374, Free PMC Article
    2. Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. Helmlinger D, et al. Hum Mol Genet, 2004 Jun 15. PMID 15115762
    3. GWAS of dental caries patterns in the permanent dentition. Shaffer JR, et al. J Dent Res, 2013 Jan. PMID 23064961, Free PMC Article
    4. ATAC and SAGA co-activator complexes utilize co-translational assembly, but their cellular localization properties and functions are distinct. Yayli G, et al. Cell Rep, 2023 Sep 26. PMID 37682711, Free PMC Article
    5. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 1999 Oct 29. PMID 10574462

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.
    EBI GWAS Catalog
    GWAS of dental caries patterns in the permanent dentition.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    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_001318229.2 → NP_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
      C9K0V9
      Related
      ENSP00000419566.1, ENST00000472195.1
      Conserved Domains (1) summary
      pfam08313
      Location:61 → 127
      SCA7; SCA7, zinc-binding domain

    2. NM_001385596.1 → NP_001372525.1  ataxin-7-like protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC005099, AC007030, AC073073
      UniProtKB/TrEMBL
      C9K0V9
      Conserved Domains (1) summary
      pfam08313
      Location:283 → 343
      SCA7; zinc-binding domain

    3. NM_020725.2 → NP_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
      A4D0Q2, B4DTS1, Q8N2T0, Q9ULK2
      UniProtKB/TrEMBL
      C9K0V9
      Related
      ENSP00000410759.3, ENST00000419735.8
      Conserved Domains (1) summary
      pfam08313
      Location:283 → 344
      SCA7; zinc-binding domain

    4. NM_138495.2 → NP_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/TrEMBL
      C9K0V9
      Related
      ENSP00000418476.1, ENST00000477775.5
      Conserved Domains (1) summary
      pfam08313
      Location:153 → 219
      SCA7; SCA7, zinc-binding domain

    5. NM_152749.3 → NP_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/TrEMBL
      B3KTF3
      Related
      ENSP00000326344.4, ENST00000318724.8

    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_000007.14 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      106918950..107191449 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ULK2.3 GenPept UniProtKB/Swiss-Prot:Q9ULK2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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