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Aliases for GIPC1 Gene

Aliases for GIPC1 Gene

  • GIPC PDZ Domain Containing Family Member 1 2 3 5
  • Regulator Of G-Protein Signalling 19 Interacting Protein 1 2 3
  • GIPC PDZ Domain Containing Family, Member 1 2 3
  • GAIP C-Terminus-Interacting Protein 3 4
  • RGS-GAIP-Interacting Protein 3 4
  • RGS19-Interacting Protein 1 3 4
  • Tax Interaction Protein 2 3 4
  • SYNECTIN 3 4
  • RGS19IP1 3 4
  • C19orf3 3 4
  • TIP-2 3 4
  • GIPC 3 4
  • IGF-1 Receptor Interacting Protein 1 3
  • Chromosome 19 Open Reading Frame 3 2
  • GLUT1 C-Terminal Binding Protein 3
  • SYNECTIIN 3
  • GLUT1CBP 3
  • Hs.6454 3
  • SEMCAP 3
  • IIP-1 3
  • NIP 3

External Ids for GIPC1 Gene

Previous HGNC Symbols for GIPC1 Gene

  • C19orf3
  • RGS19IP1

Previous GeneCards Identifiers for GIPC1 Gene

  • GC19M014592
  • GC19M014158
  • GC19M014593
  • GC19M014596
  • GC19M014600

Summaries for GIPC1 Gene

Entrez Gene Summary for GIPC1 Gene

  • GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM, Apr 2009]

GeneCards Summary for GIPC1 Gene

GIPC1 (GIPC PDZ Domain Containing Family Member 1) is a Protein Coding gene. Diseases associated with GIPC1 include cholesterol embolism and intracranial embolism. Among its related pathways are G-protein signaling_H-RAS regulation pathway and Neurotrophic factor-mediated Trk receptor signaling. GO annotations related to this gene include protein homodimerization activity and actin binding. An important paralog of this gene is GIPC2.

UniProtKB/Swiss-Prot for GIPC1 Gene

  • May be involved in G protein-linked signaling.

Gene Wiki entry for GIPC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GIPC1 Gene

Genomics for GIPC1 Gene

Regulatory Elements for GIPC1 Gene

Enhancers for GIPC1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GIPC1 on UCSC Golden Path with GeneCards custom track

Promoters for GIPC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GIPC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GIPC1 Gene

Chromosome:
19
Start:
14,477,759 bp from pter
End:
14,496,149 bp from pter
Size:
18,391 bases
Orientation:
Minus strand

Genomic View for GIPC1 Gene

Genes around GIPC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GIPC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GIPC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GIPC1 Gene

Proteins for GIPC1 Gene

  • Protein details for GIPC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14908-GIPC1_HUMAN
    Recommended name:
    PDZ domain-containing protein GIPC1
    Protein Accession:
    O14908
    Secondary Accessions:
    • A8K4I3
    • A8MZG3
    • Q9BTC9

    Protein attributes for GIPC1 Gene

    Size:
    333 amino acids
    Molecular mass:
    36049 Da
    Quaternary structure:
    • Interacts with GLUT1 (C-terminus), ACTN1, KIF1B, MYO6, PLEKHG5, SDC4/syndecan-4 and SEMA4C/semaphorin-4C (By similarity). Interacts with RGS19 C-terminus. Interacts with HTLV-I Tax through the PDZ domain.

    Alternative splice isoforms for GIPC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GIPC1 Gene

Proteomics data for GIPC1 Gene at MOPED

Post-translational modifications for GIPC1 Gene

  • Ubiquitination at Lys 80 and Lys 210
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for GIPC1 Gene

Domains & Families for GIPC1 Gene

Gene Families for GIPC1 Gene

Protein Domains for GIPC1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O14908

UniProtKB/Swiss-Prot:

GIPC1_HUMAN :
  • Contains 1 PDZ (DHR) domain.
  • Belongs to the GIPC family.
Domain:
  • Contains 1 PDZ (DHR) domain.
Family:
  • Belongs to the GIPC family.
genes like me logo Genes that share domains with GIPC1: view

Function for GIPC1 Gene

Molecular function for GIPC1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in G protein-linked signaling.

Gene Ontology (GO) - Molecular Function for GIPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042803 protein homodimerization activity ISS --
genes like me logo Genes that share ontologies with GIPC1: view
genes like me logo Genes that share phenotypes with GIPC1: view

Animal Models for GIPC1 Gene

MGI Knock Outs for GIPC1:

Animal Model Products

  • Taconic Biosciences Mouse Models for GIPC1

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GIPC1 Gene

Localization for GIPC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GIPC1 Gene

Cytoplasm. Membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GIPC1 Gene COMPARTMENTS Subcellular localization image for GIPC1 gene
Compartment Confidence
cytosol 5
extracellular 5
cytoskeleton 2
endosome 2
nucleus 2
plasma membrane 2
golgi apparatus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for GIPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005903 brush border IEA --
GO:0016020 membrane ISS --
genes like me logo Genes that share ontologies with GIPC1: view

Pathways & Interactions for GIPC1 Gene

genes like me logo Genes that share pathways with GIPC1: view

Pathways by source for GIPC1 Gene

Gene Ontology (GO) - Biological Process for GIPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G-protein coupled receptor signaling pathway NAS 9770488
GO:0007268 synaptic transmission ISS --
GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process ISS --
genes like me logo Genes that share ontologies with GIPC1: view

No data available for SIGNOR curated interactions for GIPC1 Gene

Drugs & Compounds for GIPC1 Gene

(1) Drugs for GIPC1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with GIPC1: view

Transcripts for GIPC1 Gene

Unigene Clusters for GIPC1 Gene

GIPC PDZ domain containing family, member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GIPC1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c · 10d
SP1: - - - -
SP2: - -
SP3: - - - - - - -
SP4: - - - - -
SP5: - - - -
SP6: - - - - -
SP7:
SP8:
SP9:
SP10: -
SP11:

Relevant External Links for GIPC1 Gene

GeneLoc Exon Structure for
GIPC1
ECgene alternative splicing isoforms for
GIPC1

Expression for GIPC1 Gene

mRNA expression in normal human tissues for GIPC1 Gene

mRNA differential expression in normal tissues according to GTEx for GIPC1 Gene

This gene is overexpressed in Esophagus - Mucosa (x4.8).

Protein differential expression in normal tissues from HIPED for GIPC1 Gene

This gene is overexpressed in Cervix (44.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GIPC1 Gene



SOURCE GeneReport for Unigene cluster for GIPC1 Gene Hs.655012

mRNA Expression by UniProt/SwissProt for GIPC1 Gene

O14908-GIPC1_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with GIPC1: view

Protein tissue co-expression partners for GIPC1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for GIPC1 Gene

Orthologs for GIPC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GIPC1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GIPC1 35
  • 92.39 (n)
  • 98.2 (a)
GIPC1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GIPC1 35
  • 92.19 (n)
  • 96.7 (a)
GIPC1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gipc1 35
  • 87.99 (n)
  • 96.4 (a)
Gipc1 16
Gipc1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GIPC1 35
  • 97.9 (n)
  • 96.88 (a)
GIPC1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gipc1 35
  • 86.99 (n)
  • 96.4 (a)
oppossum
(Monodelphis domestica)
Mammalia GIPC1 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GIPC1 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GIPC1 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gipc2 35
  • 67.77 (n)
  • 77.94 (a)
Str.6557 35
African clawed frog
(Xenopus laevis)
Amphibia Kermit 35
zebrafish
(Danio rerio)
Actinopterygii gipc1 35
  • 71.82 (n)
  • 81.52 (a)
zgc56157 35
gipc1 36
  • 81 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta kermit 36
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gipc-2 35
  • 46.95 (n)
  • 41.22 (a)
gipc-1 36
  • 31 (a)
ManyToMany
gipc-2 36
  • 31 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToMany
Species with no ortholog for GIPC1:
  • 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)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 GIPC1 Gene

ENSEMBL:
Gene Tree for GIPC1 (if available)
TreeFam:
Gene Tree for GIPC1 (if available)

Paralogs for GIPC1 Gene

Paralogs for GIPC1 Gene

(2) SIMAP similar genes for GIPC1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with GIPC1: view

Variants for GIPC1 Gene

Sequence variations from dbSNP and Humsavar for GIPC1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs7258106 -- 14,491,295(+) ACTCT(G/T)TCACC intron-variant
rs12976068 -- 14,483,382(+) ACTGG(A/G)GAGGT intron-variant
rs12976764 -- 14,494,382(+) ccacc(A/G)cgccc intron-variant, upstream-variant-2KB
rs12979321 -- 14,495,852(+) GGGAG(C/T)TGCCC intron-variant
rs8100901 -- 14,497,136(+) CCTCA(C/T)TCCCA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for GIPC1 Gene

Variant ID Type Subtype PubMed ID
nsv833764 CNV Loss 17160897
nsv911121 CNV Loss 21882294
nsv470127 CNV Loss 18288195
nsv911126 CNV Gain 21882294
nsv817814 CNV Loss 17921354
nsv527867 CNV Loss 19592680
esv2665387 CNV Deletion 23128226
esv2663771 CNV Deletion 23128226

Variation tolerance for GIPC1 Gene

Residual Variation Intolerance Score: 14.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.05; 68.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GIPC1 Gene

HapMap Linkage Disequilibrium report
GIPC1
Human Gene Mutation Database (HGMD)
GIPC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GIPC1 Gene

Disorders for GIPC1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for GIPC1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cholesterol embolism
  • atheroembolism
intracranial embolism
  • cerebral embolism
- elite association - COSMIC cancer census association via MalaCards
Search GIPC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GIPC1

Genetic Association Database (GAD)
GIPC1
Human Genome Epidemiology (HuGE) Navigator
GIPC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GIPC1
genes like me logo Genes that share disorders with GIPC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GIPC1 Gene

Publications for GIPC1 Gene

  1. GIPC, a PDZ domain containing protein, interacts specifically with the C-terminus of RGS-GAIP. (PMID: 9770488) De Vries L. … Farquhar M.G. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 67
  2. Overexpression of myosin VI in prostate cancer cells enhances PSA and VEGF secretion, but has no effect on endocytosis. (PMID: 19855435) Puri C. … Buss F. (Oncogene 2010) 3 23
  3. An essential role for the Glut1 PDZ-binding motif in growth factor regulation of Glut1 degradation and trafficking. (PMID: 19016655) Wieman H.L. … Rathmell J.C. (Biochem. J. 2009) 3 23
  4. Endoglin promotes transforming growth factor beta-mediated Smad 1/5/8 signaling and inhibits endothelial cell migration through its association with GIPC. (PMID: 18775991) Lee N.Y. … Blobe G.C. (J. Biol. Chem. 2008) 3 23
  5. [GIPC: a new target for therapy in pancreatic adenocarcinoma?]. (PMID: 18314626) Muders M.H. … Mukhopadhyay D. (Verh Dtsch Ges Pathol 2007) 3 23

Products for GIPC1 Gene

Sources for GIPC1 Gene

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