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Protein

Smad nuclear-interacting protein 1

Gene

SNIP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.4 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processRNA-mediated gene silencing

Enzyme and pathway databases

SignaLinkiQ8TAD8
SIGNORiQ8TAD8

Protein family/group databases

MoonDBiQ8TAD8 Predicted

Names & Taxonomyi

Protein namesi
Recommended name:
Smad nuclear-interacting protein 1
Alternative name(s):
FHA domain-containing protein SNIP1
Gene namesi
Name:SNIP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000163877.9
HGNCiHGNC:30587 SNIP1
MIMi608241 gene
neXtProtiNX_Q8TAD8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & 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.
See also OMIM:614501
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067542366E → G in PMRED. 1 PublicationCorresponds to variant dbSNP:rs387906986EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi30K → R: Abolishes sumoylation. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi79753
MalaCardsiSNIP1
MIMi614501 phenotype
OpenTargetsiENSG00000163877
PharmGKBiPA142670893

Polymorphism and mutation databases

BioMutaiSNIP1
DMDMi48428655

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000720091 – 396Smad nuclear-interacting protein 1Add BLAST396

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki30Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO); alternate
Cross-linki30Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki30Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei35PhosphoserineCombined sources1
Modified residuei49PhosphoserineCombined sources1
Modified residuei52PhosphoserineCombined sources1
Modified residuei54PhosphoserineCombined sources1
Modified residuei57PhosphothreonineCombined sources1
Modified residuei58PhosphoserineCombined sources1
Modified residuei99PhosphoserineBy similarity1
Cross-linki108Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei153PhosphoserineBy similarity1
Modified residuei202PhosphoserineCombined sources1
Cross-linki223Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei394PhosphoserineCombined sources1

Post-translational modificationi

Degraded by the proteasome upon binding to the SMAD1/OAZ1/PSMB4 complex.

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ8TAD8
MaxQBiQ8TAD8
PaxDbiQ8TAD8
PeptideAtlasiQ8TAD8
PRIDEiQ8TAD8
ProteomicsDBi73865

PTM databases

iPTMnetiQ8TAD8
PhosphoSitePlusiQ8TAD8

Expressioni

Tissue specificityi

Ubiquitous, with highest expression in heart and skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000163877 Expressed in 198 organ(s), highest expression level in secondary oocyte
CleanExiHS_SNIP1
ExpressionAtlasiQ8TAD8 baseline and differential
GenevisibleiQ8TAD8 HS

Organism-specific databases

HPAiHPA036896

Interactioni

Subunit structurei

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.6 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi122864, 75 interactors
DIPiDIP-38956N
IntActiQ8TAD8, 59 interactors
MINTiQ8TAD8
STRINGi9606.ENSP00000296215

Structurei

3D structure databases

ProteinModelPortaliQ8TAD8
SMRiQ8TAD8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini281 – 344FHAPROSITE-ProRule annotationAdd BLAST64

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili165 – 196Sequence analysisAdd BLAST32

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi62 – 192Arg-richAdd BLAST131
Compositional biasi385 – 392Poly-Glu8

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG1882 Eukaryota
ENOG4111F4H LUCA
GeneTreeiENSGT00730000110659
HOGENOMiHOG000264922
HOVERGENiHBG056615
InParanoidiQ8TAD8
KOiK13108
OMAiLKYHEPA
OrthoDBiEOG091G0M70
PhylomeDBiQ8TAD8
TreeFamiTF312797

Family and domain databases

CDDicd00060 FHA, 1 hit
InterProiView protein in InterPro
IPR000253 FHA_dom
IPR008984 SMAD_FHA_dom_sf
PfamiView protein in Pfam
PF00498 FHA, 1 hit
SMARTiView protein in SMART
SM00240 FHA, 1 hit
SUPFAMiSSF49879 SSF49879, 1 hit
PROSITEiView protein in PROSITE
PS50006 FHA_DOMAIN, 1 hit

Sequence (1+)i

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
« Hide
        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
Length:396
Mass (Da):45,778
Last modified:June 1, 2002 - v1
Checksum:iB183F83EC3184676
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PRA0A0A1W2PRA0_HUMAN
Smad nuclear-interacting protein 1
SNIP1
68Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti181F → S in BAB55241 (PubMed:14702039).Curated1
Sequence conflicti364S → I in BAB14134 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067542366E → 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
CCDSiCCDS419.1
RefSeqiNP_078976.2, NM_024700.3
UniGeneiHs.47232

Genome annotation databases

EnsembliENST00000296215; ENSP00000296215; ENSG00000163877
GeneIDi79753
KEGGihsa:79753
UCSCiuc001cbi.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
CCDSiCCDS419.1
RefSeqiNP_078976.2, NM_024700.3
UniGeneiHs.47232

3D structure databases

ProteinModelPortaliQ8TAD8
SMRiQ8TAD8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122864, 75 interactors
DIPiDIP-38956N
IntActiQ8TAD8, 59 interactors
MINTiQ8TAD8
STRINGi9606.ENSP00000296215

Protein family/group databases

MoonDBiQ8TAD8 Predicted

PTM databases

iPTMnetiQ8TAD8
PhosphoSitePlusiQ8TAD8

Polymorphism and mutation databases

BioMutaiSNIP1
DMDMi48428655

Proteomic databases

EPDiQ8TAD8
MaxQBiQ8TAD8
PaxDbiQ8TAD8
PeptideAtlasiQ8TAD8
PRIDEiQ8TAD8
ProteomicsDBi73865

Protocols and materials databases

DNASUi79753
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000296215; ENSP00000296215; ENSG00000163877
GeneIDi79753
KEGGihsa:79753
UCSCiuc001cbi.5 human

Organism-specific databases

CTDi79753
DisGeNETi79753
EuPathDBiHostDB:ENSG00000163877.9
GeneCardsiSNIP1
HGNCiHGNC:30587 SNIP1
HPAiHPA036896
MalaCardsiSNIP1
MIMi608241 gene
614501 phenotype
neXtProtiNX_Q8TAD8
OpenTargetsiENSG00000163877
PharmGKBiPA142670893
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1882 Eukaryota
ENOG4111F4H LUCA
GeneTreeiENSGT00730000110659
HOGENOMiHOG000264922
HOVERGENiHBG056615
InParanoidiQ8TAD8
KOiK13108
OMAiLKYHEPA
OrthoDBiEOG091G0M70
PhylomeDBiQ8TAD8
TreeFamiTF312797

Enzyme and pathway databases

SignaLinkiQ8TAD8
SIGNORiQ8TAD8

Miscellaneous databases

ChiTaRSiSNIP1 human
GeneWikiiSNIP1
GenomeRNAii79753
PROiPR:Q8TAD8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163877 Expressed in 198 organ(s), highest expression level in secondary oocyte
CleanExiHS_SNIP1
ExpressionAtlasiQ8TAD8 baseline and differential
GenevisibleiQ8TAD8 HS

Family and domain databases

CDDicd00060 FHA, 1 hit
InterProiView protein in InterPro
IPR000253 FHA_dom
IPR008984 SMAD_FHA_dom_sf
PfamiView protein in Pfam
PF00498 FHA, 1 hit
SMARTiView protein in SMART
SM00240 FHA, 1 hit
SUPFAMiSSF49879 SSF49879, 1 hit
PROSITEiView protein in PROSITE
PS50006 FHA_DOMAIN, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSNIP1_HUMAN
AccessioniPrimary (citable) accession number: Q8TAD8
Secondary accession number(s): Q96SP9, Q9H9T7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: June 1, 2002
Last modified: September 12, 2018
This is version 146 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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