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Aliases for SNIP1 Gene

Aliases for SNIP1 Gene

  • Smad Nuclear Interacting Protein 1 2 3
  • FHA Domain-Containing Protein SNIP1 3 4
  • PMRED 3 6
  • Smad Nuclear-Interacting Protein 1 3

External Ids for SNIP1 Gene

Previous GeneCards Identifiers for SNIP1 Gene

  • GC01M037836
  • GC01M037057
  • GC01M037428
  • GC01M037429
  • GC01M037671
  • GC01M037774
  • GC01M038002
  • GC01M036118

Summaries for SNIP1 Gene

Entrez Gene Summary for SNIP1 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]

GeneCards Summary for SNIP1 Gene

SNIP1 (Smad Nuclear Interacting Protein 1) is a Protein Coding gene. Diseases associated with SNIP1 include psychomotor retardation, epilepsy, and craniofacial dysmorphism and tongue squamous cell carcinoma. Among its related pathways are Regulation of nuclear SMAD2/3 signaling and TGF-beta Receptor Signaling Pathway. An important paralog of this gene is SLC4A1AP.

UniProtKB/Swiss-Prot for SNIP1 Gene

  • 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 3end of the CCND1 gene and its mRNA.

Gene Wiki entry for SNIP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNIP1 Gene

Genomics for SNIP1 Gene

Regulatory Elements for SNIP1 Gene

Genomic Location for SNIP1 Gene

Start:
37,534,449 bp from pter
End:
37,554,344 bp from pter
Size:
19,896 bases
Orientation:
Minus strand

Genomic View for SNIP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SNIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNIP1 Gene

Proteins for SNIP1 Gene

  • Protein details for SNIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TAD8-SNIP1_HUMAN
    Recommended name:
    Smad nuclear-interacting protein 1
    Protein Accession:
    Q8TAD8
    Secondary Accessions:
    • Q96SP9
    • Q9H9T7

    Protein attributes for SNIP1 Gene

    Size:
    396 amino acids
    Molecular mass:
    45778 Da
    Quaternary structure:
    • 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.

neXtProt entry for SNIP1 Gene

Proteomics data for SNIP1 Gene at MOPED

Post-translational modifications for SNIP1 Gene

  • Degraded by the proteasome upon binding to the SMAD1/OAZ1/PSMB4 complex
  • Ubiquitination at Lys342
  • Modification sites at PhosphoSitePlus

Other Protein References for SNIP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SNIP1 Gene

Domains for SNIP1 Gene

Protein Domains for SNIP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SNIP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8TAD8

UniProtKB/Swiss-Prot:

SNIP1_HUMAN :
  • Q8TAD8
Domain:
  • Contains 1 FHA domain.
genes like me logo Genes that share domains with SNIP1: view

No data available for Gene Families for SNIP1 Gene

Function for SNIP1 Gene

Molecular function for SNIP1 Gene

UniProtKB/Swiss-Prot Function: 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 3end of the CCND1 gene and its mRNA.

Gene Ontology (GO) - Molecular Function for SNIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17157259
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with SNIP1: view
genes like me logo Genes that share phenotypes with SNIP1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for SNIP1 Gene

Localization for SNIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNIP1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SNIP1 Gene COMPARTMENTS Subcellular localization image for SNIP1 gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for SNIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with SNIP1: view

Pathways for SNIP1 Gene

genes like me logo Genes that share pathways with SNIP1: view

Pathways by source for SNIP1 Gene

Gene Ontology (GO) - Biological Process for SNIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007249 I-kappaB kinase/NF-kappaB signaling IEA --
GO:0035196 production of miRNAs involved in gene silencing by miRNA IMP 18632581
GO:1903955 positive regulation of protein targeting to mitochondrion IMP 24270810
genes like me logo Genes that share ontologies with SNIP1: view

Transcripts for SNIP1 Gene

Unigene Clusters for SNIP1 Gene

Smad nuclear interacting protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SNIP1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5
SP1: -
SP2:

Relevant External Links for SNIP1 Gene

GeneLoc Exon Structure for
SNIP1
ECgene alternative splicing isoforms for
SNIP1

Expression for SNIP1 Gene

mRNA expression in normal human tissues for SNIP1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SNIP1 Gene

SOURCE GeneReport for Unigene cluster for SNIP1 Gene Hs.47232

mRNA Expression by UniProt/SwissProt for SNIP1 Gene

Q8TAD8-SNIP1_HUMAN
Tissue specificity: Ubiquitous, with highest expression in heart and skeletal muscle.
genes like me logo Genes that share expressions with SNIP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SNIP1 Gene

Orthologs for SNIP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SNIP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SNIP1 35
  • 99.75 (n)
  • 99.75 (a)
SNIP1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SNIP1 35
  • 85.35 (n)
  • 88.13 (a)
SNIP1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SNIP1 35
  • 87.12 (n)
  • 88.89 (a)
SNIP1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Snip1 35
  • 84.07 (n)
  • 86.16 (a)
Snip1 16
Snip1 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SNIP1 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Snip1 35
  • 84.27 (n)
  • 86.86 (a)
chicken
(Gallus gallus)
Aves SNIP1 35
  • 70.07 (n)
  • 74.31 (a)
SNIP1 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNIP1 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia snip1 35
  • 63.38 (n)
  • 67.16 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6049 35
zebrafish
(Danio rerio)
Actinopterygii Dr.17397 35
snip1 35
  • 60.73 (n)
  • 66.77 (a)
snip1 36
  • 57 (a)
OneToMany
snip1 36
  • 57 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG17168 36
  • 38 (a)
OneToOne
CG17168 37
  • 60 (a)
worm
(Caenorhabditis elegans)
Secernentea C32E8.5 36
  • 52 (a)
OneToOne
C32E8.5 37
  • 69 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PML1 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5021 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
OneToOne
Species with no ortholog for SNIP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SNIP1 Gene

ENSEMBL:
Gene Tree for SNIP1 (if available)
TreeFam:
Gene Tree for SNIP1 (if available)

Paralogs for SNIP1 Gene

Paralogs for SNIP1 Gene

genes like me logo Genes that share paralogs with SNIP1: view

Variants for SNIP1 Gene

Sequence variations from dbSNP and Humsavar for SNIP1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs215196 -- 37,542,273(+) ttcct(C/G)gtggg intron-variant
rs215197 -- 37,543,677(-) CAACA(A/G)TGCAT intron-variant
rs1052518 -- 37,536,926(-) TTTTT(C/T)TTTGA utr-variant-3-prime
rs2174769 -- 37,540,758(+) CTCCT(A/G)AAATT intron-variant
rs2273013 -- 37,554,146(+) TTCAC(C/T)ACCAC synonymous-codon, reference

Structural Variations from Database of Genomic Variants (DGV) for SNIP1 Gene

Variant ID Type Subtype PubMed ID
nsv483134 CNV Loss 15286789
nsv524834 CNV Gain 19592680
nsv834746 CNV Loss 17160897

Relevant External Links for SNIP1 Gene

HapMap Linkage Disequilibrium report
SNIP1
Human Gene Mutation Database (HGMD)
SNIP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNIP1 Gene

Disorders for SNIP1 Gene

(1) OMIM Diseases for SNIP1 Gene (608241)

UniProtKB/Swiss-Prot

SNIP1_HUMAN
  • Psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED) [MIM:614501]: A 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. {ECO:0000269 PubMed:22279524}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with SNIP1: view

Publications for SNIP1 Gene

  1. The FHA domain protein SNIP1 is a regulator of the cell cycle and cyclin D1 expression. (PMID: 15378006) Roche K.C. … Perkins N.D. (Oncogene 2004) 2 3 4 23
  2. A novel Smad nuclear interacting protein, SNIP1, suppresses p300- dependent TGF-beta signal transduction. (PMID: 10887155) Kim R.H. … Roberts A.B. (Genes Dev. 2000) 2 3 4
  3. SNIP1 inhibits NF-kappa B signaling by competing for its binding to the C/H1 domain of CBP/p300 transcriptional co-activators. (PMID: 11567019) Kim R.H. … Roberts A.B. (J. Biol. Chem. 2001) 3 4
  4. A novel link between the proteasome pathway and the signal transduction pathway of the bone morphogenetic proteins (BMPs). (PMID: 12097147) Lin Y. … Wang T. (BMC Cell Biol. 2002) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for SNIP1 Gene

Sources for SNIP1 Gene

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