Aliases for RUSC1 Gene

Aliases for RUSC1 Gene

  • RUN And SH3 Domain Containing 1 2 3 5
  • NESCA 2 3 4
  • New Molecule Containing SH3 At The Carboxy-Terminus 3 4
  • RUN And SH3 Domain-Containing Protein 1 3 4
  • RUSC1 5
  • Nesca 4

External Ids for RUSC1 Gene

Previous GeneCards Identifiers for RUSC1 Gene

  • GC01P151031
  • GC01P152068
  • GC01P152507
  • GC01P152511
  • GC01P152103
  • GC01P153557
  • GC01P155290
  • GC01P126652

Summaries for RUSC1 Gene

GeneCards Summary for RUSC1 Gene

RUSC1 (RUN And SH3 Domain Containing 1) is a Protein Coding gene. Among its related pathways are Trk receptor signaling mediated by the MAPK pathway. Gene Ontology (GO) annotations related to this gene include actin binding and SH3/SH2 adaptor activity. An important paralog of this gene is RUSC2.

UniProtKB/Swiss-Prot Summary for RUSC1 Gene

  • Putative signaling adapter which may play a role in neuronal differentiation. May be involved in regulation of NGF-dependent neurite outgrowth. Proposed to play a role in neuronal vesicular trafficking, specifically involving pre-synaptic membrane proteins. Seems to be involved in signaling pathways that are regulated by the prolonged activation of MAPK. Can regulate the polyubiquitination of IKBKG and thus may be involved in regulation of the NF-kappa-B pathway.

Additional gene information for RUSC1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RUSC1 Gene

Genomics for RUSC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RUSC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RUSC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RUSC1

Top Transcription factor binding sites by QIAGEN in the RUSC1 gene promoter:
  • GATA-1
  • IRF-7A
  • SEF-1 (1)
  • YY1

Genomic Locations for RUSC1 Gene

Genomic Locations for RUSC1 Gene
chr1:155,320,894-155,331,118
(GRCh38/hg38)
Size:
10,225 bases
Orientation:
Plus strand
chr1:155,290,640-155,300,909
(GRCh37/hg19)
Size:
10,270 bases
Orientation:
Plus strand

Genomic View for RUSC1 Gene

Genes around RUSC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RUSC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RUSC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RUSC1 Gene

Proteins for RUSC1 Gene

  • Protein details for RUSC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BVN2-RUSC1_HUMAN
    Recommended name:
    RUN and SH3 domain-containing protein 1
    Protein Accession:
    Q9BVN2
    Secondary Accessions:
    • B3KWM9
    • Q5T9U9
    • Q5T9V0
    • Q5T9V1
    • Q5T9V2
    • Q9UPY4
    • Q9Y4T5

    Protein attributes for RUSC1 Gene

    Size:
    902 amino acids
    Molecular mass:
    96444 Da
    Quaternary structure:
    • Interacts with IKBKG and TRAF6. Interacts with F-actin, acetylated actin, TUBB3, STX1A, KIF5B and KLC1 (By similarity).
    SequenceCaution:
    • Sequence=AAH52277.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAG54191.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RUSC1 Gene

    Alternative splice isoforms for RUSC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RUSC1 Gene

Post-translational modifications for RUSC1 Gene

No data available for DME Specific Peptides for RUSC1 Gene

Domains & Families for RUSC1 Gene

Gene Families for RUSC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RUSC1 Gene

InterPro:
Blocks:
  • SH3 domain signature
ProtoNet:

Suggested Antigen Peptide Sequences for RUSC1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ95383, highly similar to Homo sapiens RUN and SH3 domain containing 1 (RUSC1), mRNA (Q5T9U9_HUMAN)
  • New molecule containing SH3 at the carboxy-terminus (RUSC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BVN2

UniProtKB/Swiss-Prot:

RUSC1_HUMAN :
  • The RUN domain is necessary for NGF induced nuclear redistribution.
Domain:
  • The RUN domain is necessary for NGF induced nuclear redistribution.
genes like me logo Genes that share domains with RUSC1: view

Function for RUSC1 Gene

Molecular function for RUSC1 Gene

UniProtKB/Swiss-Prot Function:
Putative signaling adapter which may play a role in neuronal differentiation. May be involved in regulation of NGF-dependent neurite outgrowth. Proposed to play a role in neuronal vesicular trafficking, specifically involving pre-synaptic membrane proteins. Seems to be involved in signaling pathways that are regulated by the prolonged activation of MAPK. Can regulate the polyubiquitination of IKBKG and thus may be involved in regulation of the NF-kappa-B pathway.

Phenotypes From GWAS Catalog for RUSC1 Gene

Gene Ontology (GO) - Molecular Function for RUSC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding ISS --
GO:0005070 SH3/SH2 adaptor activity TAS --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with RUSC1: view
genes like me logo Genes that share phenotypes with RUSC1: view

Animal Model Products

CRISPR Products

miRNA for RUSC1 Gene

miRTarBase miRNAs that target RUSC1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RUSC1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RUSC1 Gene

Localization for RUSC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RUSC1 Gene

Cytoplasm. Nucleus. Cytoplasm, cytoskeleton. Cytoplasmic vesicle. Early endosome. Cell junction, synapse, postsynaptic density. Golgi apparatus. Note=Translocated to the nuclear envelope upon stimulation with NGF. Associated with membranes and microtubules (By similarity). {ECO:0000250}.

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 RUSC1 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
nucleus 4
endosome 4
golgi apparatus 4
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RUSC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005769 early endosome ISS --
GO:0005794 Golgi apparatus ISS --
genes like me logo Genes that share ontologies with RUSC1: view

Pathways & Interactions for RUSC1 Gene

genes like me logo Genes that share pathways with RUSC1: view

Pathways by source for RUSC1 Gene

1 BioSystems pathway for RUSC1 Gene

Gene Ontology (GO) - Biological Process for RUSC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 19365808
GO:0009967 positive regulation of signal transduction IEA --
genes like me logo Genes that share ontologies with RUSC1: view

No data available for SIGNOR curated interactions for RUSC1 Gene

Drugs & Compounds for RUSC1 Gene

No Compound Related Data Available

Transcripts for RUSC1 Gene

mRNA/cDNA for RUSC1 Gene

8 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RUSC1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RUSC1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d · 12e ^ 13a ·
SP1: - - - - - - - - - - -
SP2: - - -
SP3: - -
SP4: - - - - - - -
SP5: - -
SP6: - - - - - - -
SP7: - - - - - -
SP8: - - - - - - - - -
SP9: - - - - - - - -
SP10: - -
SP11: - - - - - - - - -
SP12: - - - - - - - - - -
SP13: - - - - - -
SP14: -
SP15: -
SP16: - - - - - - -
SP17: - -
SP18: - - - - -
SP19:
SP20: -
SP21:
SP22:

ExUns: 13b ^ 14a · 14b ^ 15a · 15b · 15c · 15d · 15e
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18: - -
SP19:
SP20:
SP21:
SP22: - -

Relevant External Links for RUSC1 Gene

GeneLoc Exon Structure for
RUSC1

Expression for RUSC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RUSC1 Gene

Protein differential expression in normal tissues from HIPED for RUSC1 Gene

This gene is overexpressed in Breast (59.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RUSC1 Gene



Protein tissue co-expression partners for RUSC1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RUSC1

SOURCE GeneReport for Unigene cluster for RUSC1 Gene:

Hs.226499

mRNA Expression by UniProt/SwissProt for RUSC1 Gene:

Q9BVN2-RUSC1_HUMAN
Tissue specificity: Predominantly expressed in brain.

Evidence on tissue expression from TISSUES for RUSC1 Gene

  • Nervous system(4.9)
  • Lung(4.6)
genes like me logo Genes that share expression patterns with RUSC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RUSC1 Gene

Orthologs for RUSC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RUSC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RUSC1 30 31
  • 99.82 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RUSC1 30
  • 87.42 (n)
Mouse
(Mus musculus)
Mammalia Rusc1 30 17 31
  • 84.09 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC100360417 30
  • 83.93 (n)
Dog
(Canis familiaris)
Mammalia RUSC1 30 31
  • 82.81 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RUSC1 31
  • 62 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.3537 30
Zebrafish
(Danio rerio)
Actinopterygii rusc1 31
  • 12 (a)
OneToOne
Species where no ortholog for RUSC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for RUSC1 Gene

ENSEMBL:
Gene Tree for RUSC1 (if available)
TreeFam:
Gene Tree for RUSC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RUSC1: view image

Paralogs for RUSC1 Gene

Paralogs for RUSC1 Gene

(1) SIMAP similar genes for RUSC1 Gene using alignment to 2 proteins:

  • RUSC1_HUMAN
  • Q5T9V0_HUMAN
genes like me logo Genes that share paralogs with RUSC1: view

Variants for RUSC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RUSC1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs12061020 - p.Ser362Phe
rs35826120 - p.Val493Ala

Additional dbSNP identifiers (rs#s) for RUSC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RUSC1 Gene

Variant ID Type Subtype PubMed ID
dgv3n68 CNV loss 17160897
esv2758971 CNV gain 17122850
esv33869 CNV loss 17666407
nsv831636 CNV loss 17160897
nsv946413 CNV duplication 23825009

Variation tolerance for RUSC1 Gene

Residual Variation Intolerance Score: 12.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.86; 67.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RUSC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RUSC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RUSC1 Gene

Disorders for RUSC1 Gene

No disorders were found for RUSC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RUSC1 Gene

Publications for RUSC1 Gene

  1. Nesca, a novel adapter, translocates to the nuclear envelope and regulates neurotrophin-induced neurite outgrowth. (PMID: 15024033) MacDonald JI … Meakin SO (The Journal of cell biology 2004) 3 4 23
  2. Molecular cloning and characterization of a novel human gene (NESCA) which encodes a putative adapter protein containing SH3. (PMID: 10760598) Matsuda S … Hamaguchi M (Biochimica et biophysica acta 2000) 2 3 4
  3. NESCA: a new NEMO/IKKgamma and TRAF6 interacting protein. (PMID: 19365808) Napolitano G … Ursini MV (Journal of cellular physiology 2009) 3 4
  4. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for RUSC1 Gene

  • Signalway Proteins for RUSC1

Sources for RUSC1 Gene