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Aliases for SCHIP1 Gene

Aliases for SCHIP1 Gene

  • Schwannomin Interacting Protein 1 2 3 5
  • Schwannomin-Interacting Protein 1 2 3
  • SCHIP-1 3 4
  • Schwannomin Interacting Protein 1 Variant 2 2
  • Schwannomin Interacting Protein 1 Variant 1 2

External Ids for SCHIP1 Gene

Previous GeneCards Identifiers for SCHIP1 Gene

  • GC03P156276
  • GC03P159938
  • GC03P160272
  • GC03P160312
  • GC03P160474
  • GC03P158991
  • GC03P156388

Summaries for SCHIP1 Gene

GeneCards Summary for SCHIP1 Gene

SCHIP1 (Schwannomin Interacting Protein 1) is a Protein Coding gene. Diseases associated with SCHIP1 include Systemic Scleroderma and Renal Cell Carcinoma, Papillary, 1. Among its related pathways are Ectoderm Differentiation and Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is IQCJ-SCHIP1.

Additional gene information for SCHIP1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCHIP1 Gene

Genomics for SCHIP1 Gene

GeneHancer (GH) Regulatory Elements for SCHIP1 Gene

Promoters and enhancers for SCHIP1 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
GH03I159839 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 550 +567.2 567169 2.2 MXI1 USF1 MAX CEBPB REST FEZF1 EP300 SP1 ZNF217 PRDM6 SCHIP1 IL12A LOC101928351 IQCJ-SCHIP1
GH03I159273 Promoter 0.9 EPDnew 550.8 +0.0 36 0.1 ZBTB21 ATF2 ZNF366 ZNF629 ATF7 RCOR1 ZBTB17 CHD2 SCHIP1 IQCJ-SCHIP1 RNU2-31P MIR3919
GH03I159864 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.2 +592.2 592193 2.5 ZSCAN4 INSM2 FEZF1 ZNF2 ZEB1 ZNF335 GLIS2 ZNF213 ZNF366 ZSCAN5C SCHIP1 IL12A LOC101928351 IQCJ-SCHIP1
GH03I159871 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.2 +599.4 599394 2.3 INSM2 SIN3A RAD21 ZEB1 ZNF366 SCRT2 ZNF391 FOS CEBPB REST SCHIP1 IL12A LOC101928351 IQCJ-SCHIP1
GH03I159880 Enhancer 1.3 Ensembl ENCODE dbSUPER 12 +609.8 609837 4.2 INSM2 MZF1 FEZF1 RAD21 ZNF335 GLIS2 ZNF366 SCRT2 ZNF143 RCOR1 SCHIP1 IL12A LOC101928351 IQCJ-SCHIP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SCHIP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SCHIP1 gene promoter:

Genomic Locations for SCHIP1 Gene

Genomic Locations for SCHIP1 Gene
chr3:159,273,247-159,897,366
(GRCh38/hg38)
Size:
624,120 bases
Orientation:
Plus strand
chr3:158,991,036-159,615,155
(GRCh37/hg19)

Genomic View for SCHIP1 Gene

Genes around SCHIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCHIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCHIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCHIP1 Gene

Proteins for SCHIP1 Gene

  • Protein details for SCHIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DPB3-SCHI1_HUMAN
    Recommended name:
    Schwannomin-interacting protein 1
    Protein Accession:
    P0DPB3
    Secondary Accessions:
    • B3KRM0
    • O75543
    • Q00P30
    • Q00P31
    • Q7Z3Y3
    • Q8IY83
    • Q9P0W3
    • Q9P0W4
    • Q9P0W5

    Protein attributes for SCHIP1 Gene

    Size:
    487 amino acids
    Molecular mass:
    53480 Da
    Quaternary structure:
    • Homooligomer (via coiled coil domain) (PubMed:10669747). Interacts with NF2; the interaction is direct (PubMed:10669747). Interacts with ANK3 (PubMed:25950943).

    Alternative splice isoforms for SCHIP1 Gene

neXtProt entry for SCHIP1 Gene

Post-translational modifications for SCHIP1 Gene

No Post-translational modifications

Other Protein References for SCHIP1 Gene

No data available for DME Specific Peptides for SCHIP1 Gene

Domains & Families for SCHIP1 Gene

Gene Families for SCHIP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SCHIP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SCHIP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P0DPB3

UniProtKB/Swiss-Prot:

SCHI1_HUMAN :
  • Belongs to the SCHIP1 family.
Family:
  • Belongs to the SCHIP1 family.
genes like me logo Genes that share domains with SCHIP1: view

Function for SCHIP1 Gene

Phenotypes From GWAS Catalog for SCHIP1 Gene

genes like me logo Genes that share phenotypes with SCHIP1: view

Animal Model Products

miRNA for SCHIP1 Gene

miRTarBase miRNAs that target SCHIP1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SCHIP1 Gene

Localization for SCHIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCHIP1 Gene

Cytoplasm.

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 SCHIP1 gene
Compartment Confidence
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Cell Junctions (2)
  • Nuclear bodies (2)
  • Nucleus (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SCHIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with SCHIP1: view

Pathways & Interactions for SCHIP1 Gene

genes like me logo Genes that share pathways with SCHIP1: view

Pathways by source for SCHIP1 Gene

Interacting Proteins for SCHIP1 Gene

Gene Ontology (GO) - Biological Process for SCHIP1 Gene

None

No data available for SIGNOR curated interactions for SCHIP1 Gene

Drugs & Compounds for SCHIP1 Gene

No Compound Related Data Available

Transcripts for SCHIP1 Gene

mRNA/cDNA for SCHIP1 Gene

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

Unigene Clusters for SCHIP1 Gene

Schwannomin interacting protein 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SCHIP1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: - - - - - -
SP2: - - - - -
SP3: - - - -
SP4: - -
SP5:
SP6:

Relevant External Links for SCHIP1 Gene

GeneLoc Exon Structure for
SCHIP1
ECgene alternative splicing isoforms for
SCHIP1

Expression for SCHIP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SCHIP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SCHIP1 Gene

This gene is overexpressed in Muscle - Skeletal (x7.2) and Heart - Left Ventricle (x4.1).

Protein differential expression in normal tissues from HIPED for SCHIP1 Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SCHIP1 Gene



Protein tissue co-expression partners for SCHIP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SCHIP1 Gene:

SCHIP1

SOURCE GeneReport for Unigene cluster for SCHIP1 Gene:

Hs.134665

mRNA Expression by UniProt/SwissProt for SCHIP1 Gene:

P0DPB3-SCHI1_HUMAN
Tissue specificity: Preferentially expressed in brain, skeletal muscles and heart. Also expressed in detected in pancreas, kidney, liver, lung, and placenta.

Evidence on tissue expression from TISSUES for SCHIP1 Gene

  • Nervous system(4.1)
  • Muscle(4)
genes like me logo Genes that share expression patterns with SCHIP1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SCHIP1 Gene

Orthologs for SCHIP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SCHIP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCHIP1 34
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SCHIP1 34
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SCHIP1 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Schip1 33 16
  • 88.79 (n)
chicken
(Gallus gallus)
Aves SCHIP1 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia schip1 33
  • 72.11 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13987 33
zebrafish
(Danio rerio)
Actinopterygii SCHIP1 34
  • 71 (a)
OneToOne
Dr.14061 33
fruit fly
(Drosophila melanogaster)
Insecta CG5375 34
  • 9 (a)
OneToMany
Species where no ortholog for SCHIP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • 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)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SCHIP1 Gene

ENSEMBL:
Gene Tree for SCHIP1 (if available)
TreeFam:
Gene Tree for SCHIP1 (if available)

Paralogs for SCHIP1 Gene

Paralogs for SCHIP1 Gene

(1) SIMAP similar genes for SCHIP1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SCHIP1: view

Variants for SCHIP1 Gene

Sequence variations from dbSNP and Humsavar for SCHIP1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000002930 -- 159,449,555(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000010671 -- 159,435,969(+) C/A genic_upstream_transcript_variant, intron_variant
rs1000026687 -- 159,455,329(+) C/G genic_upstream_transcript_variant, intron_variant
rs1000028369 -- 159,827,601(+) C/G/T genic_upstream_transcript_variant, intron_variant
rs1000030019 -- 159,294,394(+) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SCHIP1 Gene

Variant ID Type Subtype PubMed ID
dgv2626n106 CNV deletion 24896259
dgv2830e59 CNV tandem duplication 20981092
dgv834n67 CNV loss 20364138
esv1616680 CNV deletion 17803354
esv1917039 CNV deletion 18987734
esv2138340 CNV deletion 18987734
esv22799 CNV gain 19812545
esv23556 CNV loss 19812545
esv24925 CNV loss 19812545
esv2560522 CNV deletion 19546169
esv2644833 CNV deletion 19546169
esv2657975 CNV deletion 23128226
esv2659056 CNV deletion 23128226
esv2664613 CNV deletion 23128226
esv2669077 CNV deletion 23128226
esv2674821 CNV deletion 23128226
esv2678454 CNV deletion 23128226
esv2726105 CNV deletion 23290073
esv2726107 CNV deletion 23290073
esv2726108 CNV deletion 23290073
esv2832681 CNV deletion 24192839
esv3302886 CNV tandem duplication 20981092
esv3439768 CNV duplication 20981092
esv3562790 CNV deletion 23714750
esv3562794 CNV deletion 23714750
esv3562796 CNV deletion 23714750
esv3569077 CNV loss 25503493
esv3584505 CNV gain 24956385
esv3598362 CNV loss 21293372
esv3598364 CNV loss 21293372
esv3598365 CNV loss 21293372
esv3598366 CNV loss 21293372
esv3598367 CNV loss 21293372
esv3598371 CNV loss 21293372
esv3598372 CNV loss 21293372
esv3598373 CNV loss 21293372
esv4370 CNV loss 18987735
esv5498 CNV gain 19470904
esv9632 CNV gain 19470904
esv992343 CNV deletion 20482838
esv993836 CNV deletion 20482838
nsv1004990 CNV gain 25217958
nsv1074105 CNV deletion 25765185
nsv1110953 OTHER inversion 24896259
nsv1114442 CNV deletion 24896259
nsv1117355 CNV tandem duplication 24896259
nsv1128001 CNV deletion 24896259
nsv1141979 OTHER inversion 24896259
nsv1142375 CNV tandem duplication 24896259
nsv1153194 CNV insertion 26484159
nsv4082 CNV insertion 18451855
nsv4083 CNV insertion 18451855
nsv4084 CNV deletion 18451855
nsv4085 CNV insertion 18451855
nsv4086 CNV deletion 18451855
nsv4087 CNV insertion 18451855
nsv470971 CNV gain 18288195
nsv474854 CNV novel sequence insertion 20440878
nsv474858 CNV novel sequence insertion 20440878
nsv475193 CNV novel sequence insertion 20440878
nsv478315 CNV novel sequence insertion 20440878
nsv511197 CNV loss 21212237
nsv513091 CNV loss 21212237
nsv519199 CNV loss 19592680
nsv522248 CNV loss 19592680
nsv592126 CNV loss 21841781
nsv592127 CNV loss 21841781
nsv818181 CNV loss 17921354
nsv820265 CNV gain 19587683
nsv821438 CNV deletion 20802225
nsv829769 CNV gain 17160897
nsv955578 CNV deletion 24416366
nsv979894 CNV duplication 23825009
nsv997776 CNV gain 25217958
nsv998949 CNV gain 25217958

Variation tolerance for SCHIP1 Gene

Residual Variation Intolerance Score: 25.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.03; 0.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SCHIP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCHIP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCHIP1 Gene

Disorders for SCHIP1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for SCHIP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
systemic scleroderma
  • scleroderma, familial progressive
renal cell carcinoma, papillary, 1
  • rccp1
autoimmune disease of gastrointestinal tract
celiac disease 1
  • celiac disease, susceptibility to, 1
hypersensitivity reaction disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SCHIP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SCHIP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SCHIP1 Gene

Publications for SCHIP1 Gene

  1. IQCJ-SCHIP1, a novel fusion transcript encoding a calmodulin-binding IQ motif protein. (PMID: 17045569) Kwaśnicka-Crawford DA … Scherer SW (Biochemical and biophysical research communications 2006) 2 3 4 22 58
  2. Cloning and characterization of SCHIP-1, a novel protein interacting specifically with spliced isoforms and naturally occurring mutant NF2 proteins. (PMID: 10669747) Goutebroze L … Thomas G (Molecular and cellular biology 2000) 2 3 4 22 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  5. Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. (PMID: 19197348) Lowe JK … Friedman JM (PLoS genetics 2009) 3 44 58

Products for SCHIP1 Gene

Sources for SCHIP1 Gene

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