1. Gene
  2. SNW1 - SNW domain containing 1 Gene

SNW1 - SNW domain containing 1 Gene

Homo sapiens

Also known as Bx42; SKIP; FUN20; Prp45; SKIIP; SKIP1; PRPF45; NCOA-62

Gene ID: 22938 | Gene type: protein coding

About SNW1

Cytogenetic location: 14q24.3 Genomic coordinates (GRCh38): 14:77,717,599-77,761,156 (from NCBI)

This gene has 7 transcripts (splice variants) and 230 orthologues. Ubiquitous expression in bone marrow (RPKM 34.9), testis (RPKM 33.4) and 25 other tissues.

Summary

This gene, a member of the SNW gene family, encodes a coactivator that enhances transcription from some Pol II promoters. This coactivator can bind to the ligand-binding domain of the vitamin D receptor and to retinoid receptors to enhance vitamin D-, retinoic acid-, estrogen-, and glucocorticoid-mediated gene expression. It can also function as a splicing factor by interacting with poly(A)-binding protein 2 to directly control the expression of muscle-specific genes at the transcriptional level. Finally, the protein may be involved in oncogenesis since it interacts with a region of SKI oncoproteins that is required for transforming activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

SNW1 Products(2)

mRNA Protein Name
NM_001318844.2 NP_001305773.1 SNW domain-containing protein 1 isoform 1
NM_012245.3 NP_036377.1 SNW domain-containing protein 1 isoform 2

SNW1 Protein Structure

SKIP_SNW

SKIP_SNW: SKIP/SNW domain (175 - 335)

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  • 536 a.a.
Protein Preferred Names Protein Names

SNW domain-containing protein 1

SKI interacting protein

Related Diseases

Diseases Alias
Oculopharyngeal Muscular Dystrophy

OPMD

Muscular Dystrophy, Oculopharyngeal

Dystrophy, Oculopharyngeal Muscular

Oculopharyngeal Dystrophy

Progressive Muscular Dystrophy, Oculopharyngeal Type

Muscular Dystrophy Oculopharyngeal

Dystrophy, Muscular, Oculopharyngeal

Cowden Syndrome 6

CWS6

Cowden Syndrome, Type 6

Pontocerebellar Hypoplasia

Pch

Congenital Pontocerebellar Hypoplasia

Opch

Hypoplasia, Pontocerebellar

Pontoneocerebellar Hypoplasia

Nonsyndromic Pontocerebellar Hypoplasia

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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
Macaca mulatta SNW1 VGNC VGNC:99243
Mus musculus SNW1 MGD MGI:1913604
Bos taurus SNW1 VGNC VGNC:35089
Canis familiaris SNW1 VGNC VGNC:106611
Rattus norvegicus SNW1 RGD RGD:1561926
Felis catus SNW1 VGNC VGNC:80839