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Protein

Smad nuclear-interacting protein 1

Gene

SNIP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • poly(A) RNA binding Source: UniProtKB

GO - Biological processi

  • I-kappaB kinase/NF-kappaB signaling Source: Ensembl
  • positive regulation of protein targeting to mitochondrion Source: ParkinsonsUK-UCL
  • production of miRNAs involved in gene silencing by miRNA Source: UniProtKB
  • regulation of transcription, DNA-templated Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

RNA-mediated gene silencing

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163877-MONOMER.
SignaLinkiQ8TAD8.
SIGNORiQ8TAD8.

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

HGNCiHGNC:30587. SNIP1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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 rs387906986dbSNPEnsembl.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
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.

PTM databases

iPTMnetiQ8TAD8.
PhosphoSitePlusiQ8TAD8.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000163877.
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

WithEntry#Exp.IntActNotes
CLK2P497604EBI-749336,EBI-750020
IKQ131232EBI-749336,EBI-713456
MYCP011069EBI-749336,EBI-447544
SNW1Q135737EBI-749336,EBI-632715
TNIP1Q150253EBI-749336,EBI-357849

Protein-protein interaction databases

BioGridi122864. 75 interactors.
DIPiDIP-38956N.
IntActiQ8TAD8. 51 interactors.
MINTiMINT-1181692.
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

Sequence similaritiesi

Contains 1 FHA domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

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

Family and domain databases

Gene3Di2.60.200.20. 1 hit.
InterProiIPR000253. FHA_dom.
IPR008984. SMAD_FHA_domain.
[Graphical view]
PfamiPF00498. FHA. 1 hit.
[Graphical view]
SMARTiSM00240. FHA. 1 hit.
[Graphical view]
SUPFAMiSSF49879. SSF49879. 1 hit.
PROSITEiPS50006. FHA_DOMAIN. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

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 rs387906986dbSNPEnsembl.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.

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. 51 interactors.
MINTiMINT-1181692.
STRINGi9606.ENSP00000296215.

PTM databases

iPTMnetiQ8TAD8.
PhosphoSitePlusiQ8TAD8.

Polymorphism and mutation databases

BioMutaiSNIP1.
DMDMi48428655.

Proteomic databases

EPDiQ8TAD8.
MaxQBiQ8TAD8.
PaxDbiQ8TAD8.
PeptideAtlasiQ8TAD8.
PRIDEiQ8TAD8.

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.
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.
OMAiKNDEFLP.
OrthoDBiEOG091G0M70.
PhylomeDBiQ8TAD8.
TreeFamiTF312797.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163877-MONOMER.
SignaLinkiQ8TAD8.
SIGNORiQ8TAD8.

Miscellaneous databases

ChiTaRSiSNIP1. human.
GeneWikiiSNIP1.
GenomeRNAii79753.
PROiQ8TAD8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163877.
CleanExiHS_SNIP1.
ExpressionAtlasiQ8TAD8. baseline and differential.
GenevisibleiQ8TAD8. HS.

Family and domain databases

Gene3Di2.60.200.20. 1 hit.
InterProiIPR000253. FHA_dom.
IPR008984. SMAD_FHA_domain.
[Graphical view]
PfamiPF00498. FHA. 1 hit.
[Graphical view]
SMARTiSM00240. FHA. 1 hit.
[Graphical view]
SUPFAMiSSF49879. SSF49879. 1 hit.
PROSITEiPS50006. FHA_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSNIP1_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 131 of the entry and version 1 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.