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

Gene ID: 222255, updated on 5-Mar-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
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Genomic context

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Location:
7q22.3
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (105604772..105876599, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (106918950..107191449, complement)
105.20220307 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
  • 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. 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
  5. Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. Nakayama M, et al. Genome Res, 2002 Nov. PMID 12421765, Free PMC Article

See all (26) 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_2023_10

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.

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