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Aliases for SNIP1 Gene

Aliases for SNIP1 Gene

  • Smad Nuclear Interacting Protein 1 2 3 5
  • FHA Domain-Containing Protein SNIP1 3 4
  • Smad Nuclear-Interacting Protein 1 3
  • PML1 Homolog (Yeast) 2
  • PML1 Homolog 3
  • PMRED 3
  • PML1 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 Benign Epilepsy With Centrotemporal Spikes. Among its related pathways are Regulation of nuclear SMAD2/3 signaling and TGF-beta Signaling Pathway (WikiPathways). 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

Additional gene information for SNIP1 Gene

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

Genomics for SNIP1 Gene

GeneHancer (GH) Regulatory Elements for SNIP1 Gene

Promoters and enhancers for SNIP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J037552 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 724 +0.5 470 2.1 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SNIP1 C1orf109 SF3A3 GNL2 FTH1P1 YRDC INPP5B CDCA8 ZC3H12A RSPO1
GH01J037470 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 36.8 +75.0 74981 18.3 CLOCK MLX DMAP1 YY1 SLC30A9 E2F8 ZNF143 ZNF263 SSRP1 GLIS1 ZC3H12A MIR6732 LINC01137 SNIP1 MTF1 SF3A3 GNL2 DNALI1 INPP5B C1orf109
GH01J037858 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 42.9 -305.5 -305511 3.4 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B MTF1 ENSG00000230955 SNIP1 SF3A3 C1orf109 GNL2 INPP5B UTP11 FHL3
GH01J038008 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 37.3 -458.6 -458566 9.3 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC UTP11 SF3A3 INPP5B SNIP1 C1orf109 RNU6-510P FTH1P1 RSPO1 ENSG00000230955 MTF1
GH01J037930 Promoter/Enhancer 1.5 Ensembl ENCODE 33.3 -377.4 -377371 3.2 HDGF PKNOX1 ATF1 ZFP64 ARID4B SIN3A YY1 TCF12 GLIS2 E2F8 LOC105378651 SF3A3 SNIP1 C1orf109 GNL2 FHL3 UTP11 INPP5B RNU6-584P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SNIP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SNIP1 gene promoter:
  • AP-1
  • p53
  • c-Jun
  • ATF-2
  • Nkx2-5
  • GR-alpha
  • GR
  • FOXO4

Genomic Locations for SNIP1 Gene

Genomic Locations for SNIP1 Gene
chr1:37,534,449-37,554,344
(GRCh38/hg38)
Size:
19,896 bases
Orientation:
Minus strand
chr1:38,000,050-38,019,903
(GRCh37/hg19)
Size:
19,854 bases
Orientation:
Minus strand

Genomic View for SNIP1 Gene

Genes around SNIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for SNIP1 Gene

  • Degraded by the proteasome upon binding to the SMAD1/OAZ1/PSMB4 complex.
  • Ubiquitination at isoforms=342
  • 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 & Families for SNIP1 Gene

Gene Families for SNIP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for SNIP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SNIP1 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for SNIP1 Gene

Gene Ontology (GO) - Molecular Function for SNIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003729 mRNA binding IBA --
GO:0005515 protein binding IPI 17157259
genes like me logo Genes that share ontologies with SNIP1: view
genes like me logo Genes that share phenotypes with SNIP1: view

Human Phenotype Ontology for SNIP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SNIP1 Gene

MGI Knock Outs for SNIP1:
  • Snip1 Snip1<tm1a(EUCOMM)Wtsi>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SNIP1 Gene

Localization for SNIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNIP1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SNIP1 gene
Compartment Confidence
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SNIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with SNIP1: view

Pathways & Interactions for SNIP1 Gene

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

Pathways by source for SNIP1 Gene

SIGNOR curated interactions for SNIP1 Gene

Inactivates:

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:0031047 gene silencing by RNA IEA --
GO:0035196 production of miRNAs involved in gene silencing by miRNA IMP 18632581
GO:1903955 positive regulation of protein targeting to mitochondrion IMP --
genes like me logo Genes that share ontologies with SNIP1: view

Drugs & Compounds for SNIP1 Gene

No Compound Related Data Available

Transcripts for SNIP1 Gene

mRNA/cDNA for SNIP1 Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(67) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SNIP1 Gene

Smad nuclear interacting protein 1:
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for SNIP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SNIP1 Gene

This gene is overexpressed in Pancreas (27.2), Breast (17.0), and Peripheral blood mononuclear cells (12.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SNIP1 Gene



Protein tissue co-expression partners for SNIP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SNIP1 Gene:

SNIP1

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.

Evidence on tissue expression from TISSUES for SNIP1 Gene

  • Liver(4.4)
  • Nervous system(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SNIP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • mouth
  • neck
  • nose
  • skull
  • tongue
Thorax:
  • aorta
  • heart
  • heart valve
Limb:
  • digit
  • finger
  • hand
  • upper limb
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with SNIP1: view

No data available for 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 34 33
  • 99.75 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SNIP1 34 33
  • 87.12 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SNIP1 34 33
  • 85.35 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100912429 33
  • 84.27 (n)
mouse
(Mus musculus)
Mammalia Snip1 16 34 33
  • 84.07 (n)
oppossum
(Monodelphis domestica)
Mammalia SNIP1 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNIP1 34 33
  • 70.07 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNIP1 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia snip1 33
  • 63.38 (n)
zebrafish
(Danio rerio)
Actinopterygii snip1 34 34 33
  • 60.73 (n)
OneToMany
Dr.17397 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6049 33
fruit fly
(Drosophila melanogaster)
Insecta CG17168 34 35
  • 38 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C32E8.5 34 35
  • 52 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PML1 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToOne
Cin.5021 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5021 33
Species where no ortholog for SNIP1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SNIP1: view image

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 Variation AA Info Type
rs387906986 pathogenic, Psychomotor retardation, epilepsy, and craniofacial dysmorphism, Psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED) [MIM:614501] 37,537,842(-) T/C coding_sequence_variant, missense_variant
rs186332019 uncertain-significance, not provided 37,540,524(-) G/A coding_sequence_variant, missense_variant
rs368368736 uncertain-significance, not specified 37,537,781(-) A/C coding_sequence_variant, missense_variant
rs1000022294 -- 37,553,781(-) A/C intron_variant
rs1000091083 -- 37,547,035(-) T/C intron_variant

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

Variant ID Type Subtype PubMed ID
esv3585753 CNV loss 21293372
nsv524834 CNV gain 19592680
nsv834746 CNV loss 17160897
nsv945883 CNV duplication 23825009

Variation tolerance for SNIP1 Gene

Residual Variation Intolerance Score: 79.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.01; 37.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SNIP1 Gene

Human Gene Mutation Database (HGMD)
SNIP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNIP1

SNP Genotyping and Copy Number Assay Products

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

Disorders for SNIP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SNIP1 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SNIP1 in MalaCards View complete list of genes associated with diseases

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.

Additional Disease Information for SNIP1

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

No data available for Genatlas for SNIP1 Gene

Publications for SNIP1 Gene

  1. The FHA domain protein SNIP1 is a regulator of the cell cycle and cyclin D1 expression. (PMID: 15378006) Roche KC … Perkins ND (Oncogene 2004) 2 3 4 22 58
  2. A novel smad nuclear interacting protein, SNIP1, suppresses p300-dependent TGF-beta signal transduction. (PMID: 10887155) Kim RH … Roberts AB (Genes & development 2000) 2 3 4 58
  3. Genetic mapping and exome sequencing identify variants associated with five novel diseases. (PMID: 22279524) Puffenberger EG … Strauss KA (PloS one 2012) 3 4 58
  4. Regulation of cyclin D1 RNA stability by SNIP1. (PMID: 18794151) Bracken CP … Perkins ND (Cancer research 2008) 3 4 58
  5. The FHA domain proteins DAWDLE in Arabidopsis and SNIP1 in humans act in small RNA biogenesis. (PMID: 18632581) Yu B … Chen X (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 4 58

Products for SNIP1 Gene

Sources for SNIP1 Gene

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