SNIP1
Smad nuclear-interacting protein 1
Also known as: PML1, SNIP1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8TAD8
- Gene
- SNIP1
- Ensembl
- ENSG00000163877
- Chromosome
- 1
- Canonical length
- 396 aa
- Protein class
- Disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
This gene encodes a protein that contains a coiled-coil motif and C-terminal forkhead-associated (FHA) domain. The encoded protein functions as a transcriptional coactivator that increases c-Myc activity and inhibits transforming growth factor beta (TGF-beta) and nuclear factor kappa-B (NF-kB) signaling. The encoded protein also regulates the stability of cyclin D1 mRNA, and may play a role in cell proliferation and cancer progression. Mutations in this gene are a cause of psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED). [provided by RefSeq, Mar 2012]
Canonical amino-acid sequenceUniProt
396 residues, UniProt reviewed canonical sequence.
>Q8TAD8|SNIP1
1 MKAVKSERER GSRRRHRDGD VVLPAGVVVK QERLSPEVAP PAHRRPDHSG GSPSPPTSEP
61 ARSGHRGNRA RGVSRSPPKK KNKASGRRSK SPRSKRNRSP HHSTVKVKQE REDHPRRGRE
121 DRQHREPSEQ EHRRARNSDR DRHRGHSHQR RTSNERPGSG QGQGRDRDTQ NLQAQEEERE
181 FYNARRREHR QRNDVGGGGS ESQELVPRPG GNNKEKEVPA KEKPSFELSG ALLEDTNTFR
241 GVVIKYSEPP EARIPKKRWR LYPFKNDEVL PVMYIHRQSA YLLGRHRRIA DIPIDHPSCS
301 KQHAVFQYRL VEYTRADGTV GRRVKPYIID LGSGNGTFLN NKRIEPQRYY ELKEKDVLKF
361 GFSSREYVLL HESSDTSEID RKDDEDEEEE EEVSDSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SNIP1 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)
- 0.55
- Highest tissue expression
- 5.9 nTPM
Expression across tissuesHPA
Tissue
- liver: 5.9 nTPM
- bone marrow: 5.2 nTPM
- testis: 4.3 nTPM
- breast: 4.1 nTPM
- esophagus: 3.9 nTPM
- tonsil: 3.9 nTPM
Single-cell type
- neutrophils: 107 nCPM
- endometrial glandular cells: 106 nCPM
- endometrial luminal cells: 87 nCPM
- ocular epithelial cells: 73 nCPM
- breast lactating cells: 65 nCPM
- endometrial ciliated cells: 56 nCPM
Immune cell
- gdT-cell: 1.5 nTPM
- MAIT T-cell: 1.5 nTPM
- memory CD8 T-cell: 1.5 nTPM
- basophil: 1.4 nTPM
- naive CD4 T-cell: 1.3 nTPM
- eosinophil: 1.2 nTPM
Brain region
- cerebellum: 7.6 nTPM
- white matter: 6.6 nTPM
- hypothalamus: 6.5 nTPM
- cerebral cortex: 6.3 nTPM
- thalamus: 6.1 nTPM
- hippocampal formation: 6 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SNIP1.
Disease | AllUniProt
Conditions SNIP1 is implicated in, by any mechanism.
- Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures (NEDHCS) MIM:614501
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 274 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Psychomotor retardation, epilepsy, and craniofacial dysmorphism
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)
- 0.5
- gnomAD pLI
- 0.42
- gnomAD missense Z
- 1.24
- DepMap mean gene effect
- -0.59
- DepMap dependency class
- common
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
- miRNA processing
- mRNA splicing, via spliceosome
- negative regulation of canonical NF-kappaB signal transduction
- positive regulation of transcription by RNA polymerase II
- U2-type prespliceosome assembly
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SNIP1 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 SNIP1 as an antibody target. Whether an autoantibody or antibody against SNIP1 could matter depends on whether native SNIP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SNIP1 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 SNIP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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