ATXN1L - ataxin 1 like Gene

Homo sapiens

Also known as BOAT; BOAT1

Gene ID: 342371 | Gene type: protein coding

About ATXN1L

Cytogenetic location: 16q22.2 Genomic coordinates (GRCh38): 16:71,845,976-71,857,328 (from NCBI)

This gene has 4 transcripts (splice variants), 184 orthologues and 1 paralogue. Ubiquitous expression in bone marrow (RPKM 17.2), kidney (RPKM 12.6) and 25 other tissues.

Summary

Predicted to enable DNA binding activity and RNA binding activity. Predicted to be involved in several processes, including learning or memory; regulation of transcription, DNA-templated; 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, Apr 2022]

ATXN1L Products(1)

mRNA	Protein	Name
NM_001137675.4	NP_001131147.1	ataxin-1-like

ATXN1L Protein Structure

AXH

0
200
400
600
689 a.a.

Protein Preferred Names

Protein Names

ataxin-1-like

brother of ATXN1

Related Diseases

Diseases

Alias

Spinocerebellar Ataxia 1

Spinocerebellar Ataxia Type 1	SCA1
Olivopontocerebellar Atrophy I	Opca1
Opca4	Menzel Type Opca
Schut-Haymaker Type Opca	Spinocerebellar Atrophy I
Opca I	Olivopontocerebellar Atrophy Iv
Opca Iv	Cerebelloparenchymal Disorder I
Cpd1	Olivopontocerebellar Atrophy 1
Cerebelloparenchymal Disorder 1	Olivopontocerebellar Atrophy 4
Spinocerebellar Atrophy 1	Type 1 Spinocerebellar Ataxia
Spinocerebellar Ataxia-1	Ataxia, Spinocerebellar, Type 1

Omphalocele

Omphalocoele	Congenital Omphalocele
Exomphalos	Exumbilication

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia	Adca
Pierre Marie Cerebellar Ataxia	Ataxia, Spinocerebellar
Sca	Autosomal Dominant Spinocerebellar Ataxia
Spinocerebellar Ataxias

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01255	ATXN1L Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ATXN1L	MGD	MGI:3694797
Canis familiaris	ATXN1L	VGNC	VGNC:38300
Rattus norvegicus	ATXN1L	RGD	RGD:9319286
Macaca mulatta	ATXN1L	VGNC	VGNC:99486
Bos taurus	ATXN1L	VGNC	VGNC:26339

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