UniProtKB - Q8TAD8 (SNIP1_HUMAN)
Protein
Smad nuclear-interacting protein 1
Gene
SNIP1
Organism
Homo sapiens (Human)
Status
Functioni
Required for pre-mRNA splicing as component of the spliceosome (PubMed:29360106). Down-regulates NF-kappa-B signaling by competing with RELA for CREBBP/EP300 binding. Involved in the microRNA (miRNA) biogenesis. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA.5 Publications
GO - Molecular functioni
- mRNA binding Source: GO_Central
- RNA binding Source: UniProtKB
GO - Biological processi
- I-kappaB kinase/NF-kappaB signaling Source: Ensembl
- mRNA splicing, via spliceosome Source: UniProtKB
- production of miRNAs involved in gene silencing by miRNA Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: Ensembl
Keywordsi
Biological process | mRNA processing, mRNA splicing, RNA-mediated gene silencing |
Enzyme and pathway databases
PathwayCommonsi | Q8TAD8 |
SignaLinki | Q8TAD8 |
SIGNORi | Q8TAD8 |
Protein family/group databases
MoonDBi | Q8TAD8, Predicted |
Names & Taxonomyi
Protein namesi | Recommended name: Smad nuclear-interacting protein 1Alternative name(s): FHA domain-containing protein SNIP1 |
Gene namesi | Name:SNIP1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000163877.9 |
HGNCi | HGNC:30587, SNIP1 |
MIMi | 608241, gene |
neXtProti | NX_Q8TAD8 |
Subcellular locationi
Nucleus
- Nucleus 2 Publications
Cytosol
- cytosol Source: HPA
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
- U2-type precatalytic spliceosome Source: UniProtKB
Keywords - Cellular componenti
Nucleus, SpliceosomePathology & Biotechi
Involvement in diseasei
Psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by severe psychomotor retardation, intractable seizures, dysmorphic features, and a lumpy skull surface. Patients are hypotonic and have poor feeding in the neonatal period.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067542 | 366 | E → G in PMRED. 1 PublicationCorresponds to variant dbSNP:rs387906986EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 30 | K → R: Abolishes sumoylation. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, EpilepsyOrganism-specific databases
DisGeNETi | 79753 |
MalaCardsi | SNIP1 |
MIMi | 614501, phenotype |
OpenTargetsi | ENSG00000163877 |
PharmGKBi | PA142670893 |
Miscellaneous databases
Pharosi | Q8TAD8, Tbio |
Polymorphism and mutation databases
BioMutai | SNIP1 |
DMDMi | 48428655 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000072009 | 1 – 396 | Smad nuclear-interacting protein 1Add BLAST | 396 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Cross-linki | 30 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO); alternate | ||
Cross-linki | 30 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources | ||
Cross-linki | 30 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources | ||
Modified residuei | 35 | PhosphoserineCombined sources | 1 | |
Modified residuei | 49 | PhosphoserineCombined sources | 1 | |
Modified residuei | 52 | PhosphoserineCombined sources | 1 | |
Modified residuei | 54 | PhosphoserineCombined sources | 1 | |
Modified residuei | 57 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 58 | PhosphoserineCombined sources | 1 | |
Modified residuei | 99 | PhosphoserineBy similarity | 1 | |
Cross-linki | 108 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 153 | PhosphoserineBy similarity | 1 | |
Modified residuei | 202 | PhosphoserineCombined sources | 1 | |
Cross-linki | 223 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 394 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Degraded by the proteasome upon binding to the SMAD1/OAZ1/PSMB4 complex.
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q8TAD8 |
jPOSTi | Q8TAD8 |
MassIVEi | Q8TAD8 |
MaxQBi | Q8TAD8 |
PaxDbi | Q8TAD8 |
PeptideAtlasi | Q8TAD8 |
PRIDEi | Q8TAD8 |
ProteomicsDBi | 73865 |
PTM databases
iPTMneti | Q8TAD8 |
PhosphoSitePlusi | Q8TAD8 |
Expressioni
Tissue specificityi
Ubiquitous, with highest expression in heart and skeletal muscle.1 Publication
Gene expression databases
Bgeei | ENSG00000163877, Expressed in sural nerve and 208 other tissues |
ExpressionAtlasi | Q8TAD8, baseline and differential |
Genevisiblei | Q8TAD8, HS |
Organism-specific databases
HPAi | ENSG00000163877, Low tissue specificity |
Interactioni
Subunit structurei
Component of activated spliceosome complexes (PubMed:29360106). Binds SMAD4 and CREBBP/EP300. Binds the SMAD1/OAZ1/PSMB4 complex.
Interacts with DROSHA and SMARCA4.
Component of the SNARP complex which consists at least of SNIP1, SNW1, THRAP3, BCLAF1 and PNN.
7 PublicationsBinary interactionsi
Hide detailsQ8TAD8
Protein-protein interaction databases
BioGRIDi | 122864, 104 interactors |
DIPi | DIP-38956N |
IntActi | Q8TAD8, 100 interactors |
MINTi | Q8TAD8 |
STRINGi | 9606.ENSP00000296215 |
Miscellaneous databases
RNActi | Q8TAD8, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 281 – 344 | FHAPROSITE-ProRule annotationAdd BLAST | 64 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 165 – 196 | Sequence analysisAdd BLAST | 32 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 62 – 192 | Arg-richAdd BLAST | 131 | |
Compositional biasi | 385 – 392 | Poly-Glu | 8 |
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG1882, Eukaryota |
GeneTreei | ENSGT00940000156553 |
HOGENOMi | CLU_022457_2_0_1 |
InParanoidi | Q8TAD8 |
OMAi | LKYHEPA |
OrthoDBi | 955935at2759 |
PhylomeDBi | Q8TAD8 |
TreeFami | TF312797 |
Family and domain databases
CDDi | cd00060, FHA, 1 hit |
InterProi | View protein in InterPro IPR000253, FHA_dom IPR008984, SMAD_FHA_dom_sf |
Pfami | View protein in Pfam PF00498, FHA, 1 hit |
SMARTi | View protein in SMART SM00240, FHA, 1 hit |
SUPFAMi | SSF49879, SSF49879, 1 hit |
PROSITEi | View protein in PROSITE PS50006, FHA_DOMAIN, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q8TAD8-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MKAVKSERER GSRRRHRDGD VVLPAGVVVK QERLSPEVAP PAHRRPDHSG
60 70 80 90 100
GSPSPPTSEP ARSGHRGNRA RGVSRSPPKK KNKASGRRSK SPRSKRNRSP
110 120 130 140 150
HHSTVKVKQE REDHPRRGRE DRQHREPSEQ EHRRARNSDR DRHRGHSHQR
160 170 180 190 200
RTSNERPGSG QGQGRDRDTQ NLQAQEEERE FYNARRREHR QRNDVGGGGS
210 220 230 240 250
ESQELVPRPG GNNKEKEVPA KEKPSFELSG ALLEDTNTFR GVVIKYSEPP
260 270 280 290 300
EARIPKKRWR LYPFKNDEVL PVMYIHRQSA YLLGRHRRIA DIPIDHPSCS
310 320 330 340 350
KQHAVFQYRL VEYTRADGTV GRRVKPYIID LGSGNGTFLN NKRIEPQRYY
360 370 380 390
ELKEKDVLKF GFSSREYVLL HESSDTSEID RKDDEDEEEE EEVSDS
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A1W2PRA0 | A0A1W2PRA0_HUMAN | Smad nuclear-interacting protein 1 | SNIP1 | 68 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 181 | F → S in BAB55241 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 364 | S → I in BAB14134 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067542 | 366 | E → G in PMRED. 1 PublicationCorresponds to variant dbSNP:rs387906986EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY081909 mRNA Translation: AAL91140.1 AK022615 mRNA Translation: BAB14134.1 AK027622 mRNA Translation: BAB55241.1 BC027040 mRNA Translation: AAH27040.1 |
CCDSi | CCDS419.1 |
RefSeqi | NP_078976.2, NM_024700.3 |
Genome annotation databases
Ensembli | ENST00000296215; ENSP00000296215; ENSG00000163877 |
GeneIDi | 79753 |
KEGGi | hsa:79753 |
UCSCi | uc001cbi.5, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY081909 mRNA Translation: AAL91140.1 AK022615 mRNA Translation: BAB14134.1 AK027622 mRNA Translation: BAB55241.1 BC027040 mRNA Translation: AAH27040.1 |
CCDSi | CCDS419.1 |
RefSeqi | NP_078976.2, NM_024700.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5Z56 | electron microscopy | 5.10 | X | 1-396 | [»] | |
5Z57 | electron microscopy | 6.50 | X | 1-396 | [»] | |
5Z58 | electron microscopy | 4.90 | X | 1-396 | [»] | |
6FF7 | electron microscopy | 4.50 | 0 | 1-396 | [»] | |
SMRi | Q8TAD8 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 122864, 104 interactors |
DIPi | DIP-38956N |
IntActi | Q8TAD8, 100 interactors |
MINTi | Q8TAD8 |
STRINGi | 9606.ENSP00000296215 |
Protein family/group databases
MoonDBi | Q8TAD8, Predicted |
PTM databases
iPTMneti | Q8TAD8 |
PhosphoSitePlusi | Q8TAD8 |
Polymorphism and mutation databases
BioMutai | SNIP1 |
DMDMi | 48428655 |
Proteomic databases
EPDi | Q8TAD8 |
jPOSTi | Q8TAD8 |
MassIVEi | Q8TAD8 |
MaxQBi | Q8TAD8 |
PaxDbi | Q8TAD8 |
PeptideAtlasi | Q8TAD8 |
PRIDEi | Q8TAD8 |
ProteomicsDBi | 73865 |
Protocols and materials databases
Antibodypediai | 17552, 164 antibodies |
DNASUi | 79753 |
Genome annotation databases
Ensembli | ENST00000296215; ENSP00000296215; ENSG00000163877 |
GeneIDi | 79753 |
KEGGi | hsa:79753 |
UCSCi | uc001cbi.5, human |
Organism-specific databases
CTDi | 79753 |
DisGeNETi | 79753 |
EuPathDBi | HostDB:ENSG00000163877.9 |
GeneCardsi | SNIP1 |
HGNCi | HGNC:30587, SNIP1 |
HPAi | ENSG00000163877, Low tissue specificity |
MalaCardsi | SNIP1 |
MIMi | 608241, gene 614501, phenotype |
neXtProti | NX_Q8TAD8 |
OpenTargetsi | ENSG00000163877 |
PharmGKBi | PA142670893 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1882, Eukaryota |
GeneTreei | ENSGT00940000156553 |
HOGENOMi | CLU_022457_2_0_1 |
InParanoidi | Q8TAD8 |
OMAi | LKYHEPA |
OrthoDBi | 955935at2759 |
PhylomeDBi | Q8TAD8 |
TreeFami | TF312797 |
Enzyme and pathway databases
PathwayCommonsi | Q8TAD8 |
SignaLinki | Q8TAD8 |
SIGNORi | Q8TAD8 |
Miscellaneous databases
BioGRID-ORCSi | 79753, 457 hits in 849 CRISPR screens |
ChiTaRSi | SNIP1, human |
GeneWikii | SNIP1 |
GenomeRNAii | 79753 |
Pharosi | Q8TAD8, Tbio |
PROi | PR:Q8TAD8 |
RNActi | Q8TAD8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000163877, Expressed in sural nerve and 208 other tissues |
ExpressionAtlasi | Q8TAD8, baseline and differential |
Genevisiblei | Q8TAD8, HS |
Family and domain databases
CDDi | cd00060, FHA, 1 hit |
InterProi | View protein in InterPro IPR000253, FHA_dom IPR008984, SMAD_FHA_dom_sf |
Pfami | View protein in Pfam PF00498, FHA, 1 hit |
SMARTi | View protein in SMART SM00240, FHA, 1 hit |
SUPFAMi | SSF49879, SSF49879, 1 hit |
PROSITEi | View protein in PROSITE PS50006, FHA_DOMAIN, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SNIP1_HUMAN | |
Accessioni | Q8TAD8Primary (citable) accession number: Q8TAD8 Secondary accession number(s): Q96SP9, Q9H9T7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 7, 2004 |
Last sequence update: | June 1, 2002 | |
Last modified: | December 2, 2020 | |
This is version 161 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations