ATXN1L ataxin 1 like [Homo sapiens (human)] - Gene

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, Nov 2024]
Expression: Ubiquitous expression in bone marrow (RPKM 17.2), kidney (RPKM 12.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TRIM25 promotes Capicua degradation independently of ERK in the absence of ATXN1L.
Title: TRIM25 promotes Capicua degradation independently of ERK in the absence of ATXN1L.
This study highlights the CIC-ATXN1-ATXN1L axis as a more potent regulator of the cell cycle than previously appreciated
Title: Transcriptomic analysis of CIC and ATXN1L reveal a functional relationship exploited by cancer.
The ATXN1L-CIC-ETS transcription factor axis as a mediator of resistance to MAPKi.
Title: ATXN1L, CIC, and ETS Transcription Factors Modulate Sensitivity to MAPK Pathway Inhibition.
Both ATXN1 and BOAT1 bind to the promoter region of Hey1 and inhibit the transcriptional output of Notch through direct interactions with CBF1, a transcription factor that is crucial for the Notch pathway.
Title: Ataxin-1 and Brother of ataxin-1 are components of the Notch signalling pathway.
Boat is an in vivo binding partner of ataxin-1 whose altered expression in Purkinje cells may contribute to their degeneration in causes spinocerebellar ataxia type 1 animals
Title: Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH15633 (e-PCR)
- UniSTS:84541

NIB1158 (e-PCR)
- UniSTS:80774

D8Ertd587e (e-PCR), detects polymorphism
- UniSTS:167583

D16S2943 (e-PCR)
- UniSTS:82171

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

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Preferred Names: ataxin-1-like

Names: brother of ATXN1; brother of ataxin-1

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)

NM_001137675.4 → NP_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:475 → 579

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

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

71845976..71857328

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

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.