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  2. SNRPA1 - small nuclear ribonucleoprotein polypeptide A' Gene

SNRPA1 - small nuclear ribonucleoprotein polypeptide A' Gene

Homo sapiens

Also known as Lea1; U2A'

Gene ID: 6627 | Gene type: protein coding

About SNRPA1

Cytogenetic location: 15q26.3 Genomic coordinates (GRCh38): 15:101,281,510-101,295,248 (from NCBI)

This gene has 15 transcripts (splice variants), 231 orthologues and 2 paralogues. Ubiquitous expression in bone marrow (RPKM 26.0), testis (RPKM 22.8) and 25 other tissues.

Summary

Enables RNA binding activity. Involved in mRNA splicing, via spliceosome and spermatogenesis. Located in nuclear speck. Part of U2-type catalytic step 2 spliceosome and U2-type precatalytic spliceosome. Implicated in connective tissue disease. [provided by Alliance of Genome Resources, Apr 2022]

SNRPA1 Products(1)

mRNA Protein Name
NM_003090.4 NP_003081.2 U2 small nuclear ribonucleoprotein A'

SNRPA1 Protein Structure

LRR_9

LRR_9: Leucine-rich repeat (1 - 175)

  • 0
  • 100
  • 200
  • 255 a.a.
Protein Preferred Names Protein Names

U2 small nuclear ribonucleoprotein A'

U2 small nuclear ribonucleoprotein polypeptide A'

Related Diseases

Diseases Alias
Primary Optic Atrophy
Galloway-Mowat Syndrome 1

Galloway Syndrome

Nephrosis-Neuronal Dysmigration Syndrome

Nephrosis-Microcephaly Syndrome

Camos

Scar5

GAMOS1

Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

Microcephaly, Hiatal Hernia And Nephrotic Syndrome

Cerebellar Ataxia With Mental Retardation, Optic Atrophy, And Skin Abnormalities

Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly

Scar5, Formerly

Spinocerebellar Ataxia Autosomal Recessive 5

Cerebellar Ataxia With Intellectual Disability Optic Atrophy And Skin Abnormalities

Camos Syndrome

Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome

Galloway-Mowat Syndrome

Spinocerebellar Ataxia, Autosomal Recessive, 5

Galloway Mowat Syndrome

Spinocerebellar Ataxia, Autosomal Recessive 5

Connective Tissue Disease

Connective Tissue Diseases

Connective Tissue Disorder

Abnormality Of Connective Tissue

Disorder Of Connective Tissue

Connective Tissue Disorders

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus SNRPA1 RGD RGD:2320494
Felis catus SNRPA1 VGNC VGNC:80840
Canis familiaris SNRPA1 VGNC VGNC:46610
Mus musculus SNRPA1 MGD MGI:1916231
Macaca mulatta SNRPA1 VGNC VGNC:77675
Bos taurus SNRPA1 VGNC VGNC:35075