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

Gene ID: 222255, updated on 13-Aug-2022

Summary

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

See ATXN7L1 in Genome Data Viewer
Location:
7q22.3
Exon count:
16
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (105604772..105876599, complement)
110 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 Sharpr-MPRA regulatory region 14983 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105241179-105241956 Neighboring gene Sharpr-MPRA regulatory region 7350 Neighboring gene Sharpr-MPRA regulatory region 5075 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:105337283-105338044 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:105470396-105471595 Neighboring gene ribosomal protein L13a pseudogene 16 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105603215-105604166 Neighboring gene uncharacterized LOC107986833 Neighboring gene cadherin related family member 3

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

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

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
    Related
    ENSP00000419566.1, ENST00000472195.1
    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
    Q8N2T0, Q9ULK2
    Related
    ENSP00000410759.3, ENST00000419735.8
    Conserved Domains (1) summary
    pfam08313
    Location:283344
    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 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_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)