SNW1
SNW domain-containing protein 1
Also known as: Bx42, FUN20, NCoA-62, Prp45, PRPF45, SKIIP, SKIP, SKIP1, SNW1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q13573
- Gene
- SNW1
- Ensembl
- ENSG00000100603
- Chromosome
- 14
- Canonical length
- 536 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
536 residues, UniProt reviewed canonical sequence.
>Q13573|SNW1
1 MALTSFLPAP TQLSQDQLEA EEKARSQRSR QTSLVSSRRE PPPYGYRKGW IPRLLEDFGD
61 GGAFPEIHVA QYPLDMGRKK KMSNALAIQV DSEGKIKYDA IARQGQSKDK VIYSKYTDLV
121 PKEVMNADDP DLQRPDEEAI KEITEKTRVA LEKSVSQKVA AAMPVRAADK LAPAQYIRYT
181 PSQQGVAFNS GAKQRVIRMV EMQKDPMEPP RFKINKKIPR GPPSPPAPVM HSPSRKMTVK
241 EQQEWKIPPC ISNWKNAKGY TIPLDKRLAA DGRGLQTVHI NENFAKLAEA LYIADRKARE
301 AVEMRAQVER KMAQKEKEKH EEKLREMAQK ARERRAGIKT HVEKEDGEAR ERDEIRHDRR
361 KERQHDRNLS RAAPDKRSKL QRNENRDISE VIALGVPNPR TSNEVQYDQR LFNQSKGMDS
421 GFAGGEDEIY NVYDQAWRGG KDMAQSIYRP SKNLDKDMYG DDLEARIKTN RFVPDKEFSG
481 SDRRQRGREG PVQFEEDPFG LDKFLEEAKQ HGGSKRPSDS SRPKEHEHEG KKRRKELocalizationUniProt · AlphaFold · HPA
Whether an antibody against SNW1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.56
- Highest tissue expression
- 86 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 86 nTPM
- skeletal muscle: 63 nTPM
- skin: 49 nTPM
- testis: 47 nTPM
- thymus: 46 nTPM
- adipose tissue: 46 nTPM
Single-cell type
- late primary spermatocytes: 305 nCPM
- early primary spermatocytes: 235 nCPM
- oocytes: 230 nCPM
- erythrocyte progenitors: 189 nCPM
- megakaryocytes: 161 nCPM
- platelets: 153 nCPM
Immune cell
- eosinophil: 96 nTPM
- NK-cell: 95 nTPM
- T-reg: 95 nTPM
- basophil: 95 nTPM
- non-classical monocyte: 93 nTPM
- intermediate monocyte: 77 nTPM
Brain region
- white matter: 34 nTPM
- cerebellum: 30 nTPM
- pons: 28 nTPM
- medulla oblongata: 28 nTPM
- basal ganglia: 27 nTPM
- choroid plexus: 27 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SNW1.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 58 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- SNW1-associated neurodevelopmental disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.22
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.85
- DepMap mean gene effect
- -1.52
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to retinoic acid
- host-mediated activation of viral transcription
- intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
- mRNA splicing, via spliceosome
- negative regulation of DNA-templated transcription
- negative regulation of transcription by RNA polymerase II
- positive regulation of mRNA splicing, via spliceosome
- positive regulation of neurogenesis
- positive regulation of transcription by RNA polymerase II
- positive regulation of transforming growth factor beta receptor signaling pathway
- positive regulation of vitamin D receptor signaling pathway
- regulation of retinoic acid receptor signaling pathway
- regulation of transcription by RNA polymerase II
- regulation of vitamin D receptor signaling pathway
- retinoic acid receptor signaling pathway
Molecular functions
- enzyme binding
- Notch binding
- nuclear androgen receptor binding
- nuclear receptor binding
- nuclear retinoic acid receptor binding
- nuclear vitamin D receptor binding
- RNA binding
- SMAD binding
- transcription coactivator activity
- transcription corepressor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- SKI-interacting protein SKIP, SNW domain
- SKI-interacting protein, SKIP
- SKIP/SNW domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SNW1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SNW1 as an antibody target. Whether an autoantibody or antibody against SNW1 could matter depends on whether native SNW1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SNW1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SNW1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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