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

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
  • PDZ Domain-Containing Protein GIPC1 3 4
  • 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
  • RGS19IP1 3 4
  • C19orf3 3 4
  • TIP-2 3 4
  • GIPC 3 4
  • GIPC PDZ Domain Containing Family, Member 1 2
  • IGF-1 Receptor Interacting Protein 1 3
  • Chromosome 19 Open Reading Frame 3 2
  • GLUT1 C-Terminal Binding Protein 3
  • SYNECTIIN 3
  • GLUT1CBP 3
  • SYNECTIN 3
  • Synectin 4
  • 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 Deafness, Autosomal Recessive 37 and Deafness, Autosomal Dominant 22. Among its related pathways are G-protein signaling_H-RAS regulation pathway and Syndecan-4-mediated signaling events. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and actin binding. An important paralog of this gene is GIPC2.

UniProtKB/Swiss-Prot Summary for GIPC1 Gene

Gene Wiki entry for GIPC1 Gene

Additional gene information for GIPC1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GIPC1 Gene

Genomics for GIPC1 Gene

GeneHancer (GH) Regulatory Elements for GIPC1 Gene

Promoters and enhancers for GIPC1 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
GH19J014494 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 505.9 -0.2 -164 3.8 FOXK2 HNRNPK ZNF217 EP300 POLR2G USF1 SP1 BCLAF1 PHF8 JUND GIPC1 ZNF333 DNAJB1 piR-48749-016
GH19J014979 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 500 -483.6 -483646 1.6 ZBTB26 HDAC2 RBM25 MXI1 PHF8 ZFHX2 ZNF335 ZBTB48 FOXP2 ZNF768 SLC1A6 lnc-OR7A17-2 GIPC1 piR-33103-010 lnc-OR7C2-1 RF00017-2851
GH19J014489 Promoter 0.3 EPDnew 500.4 +6.2 6201 0.1 SNRPGP15 lnc-PKN1-1 GIPC1
GH19J014415 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.4 +78.2 78227 5.2 HNRNPK ZBTB40 SIN3A NRF1 POLR2G USF1 SP1 PHF8 PHB2 FOS DDX39A AKAP8 GIPC1 ADGRE2 BRD4 DNAJB1 DCAF15 PKN1 IL27RA RFX1
GH19J014512 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 6.1 -22.4 -22381 12 EP300 ZBTB40 ZNF217 CTCF SIN3A NRF1 POLR2G USF1 SP1 NCOR1 TECR DNAJB1 AKAP8 BRD4 DDX39A CCDC130 MRI1 ZNF333 NOTCH3 DCAF15
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GIPC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GIPC1

Top Transcription factor binding sites by QIAGEN in the GIPC1 gene promoter:
  • aMEF-2
  • C/EBPalpha
  • Elk-1
  • HOXA9
  • HOXA9B
  • MEF-2
  • MEF-2A
  • Meis-1
  • Meis-1b
  • YY1

Genomic Locations for GIPC1 Gene

Genomic Locations for GIPC1 Gene
chr19:14,477,759-14,496,149
(GRCh38/hg38)
Size:
18,391 bases
Orientation:
Minus strand
chr19:14,588,571-14,606,944
(GRCh37/hg19)
Size:
18,374 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

Post-translational modifications for GIPC1 Gene

  • Ubiquitination at Lys80 and Lys210
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GIPC1 Gene

Domains & Families for GIPC1 Gene

Gene Families for GIPC1 Gene

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

Protein Domains for GIPC1 Gene

Blocks:
  • PDZ/DHR/GLGF domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GIPC1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ76166, highly similar to Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 2, mRNA (A8K4I3_HUMAN)
  • Tax interaction protein 2 (GIPC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14908

UniProtKB/Swiss-Prot:

GIPC1_HUMAN :
  • Belongs to the GIPC family.
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.

Phenotypes From GWAS Catalog for GIPC1 Gene

Gene Ontology (GO) - Molecular Function for GIPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding ISS --
GO:0005102 signaling receptor binding IPI 15459234
GO:0005515 protein binding IEA,IPI 9770488
GO:0017022 myosin binding ISS --
GO:0030165 PDZ domain binding IEA --
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

miRNA for GIPC1 Gene

miRTarBase miRNAs that target GIPC1

Clone 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
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 GIPC1 gene
Compartment Confidence
cytosol 5
plasma membrane 2
extracellular 2
cytoskeleton 2
nucleus 2
endosome 2
lysosome 2
golgi apparatus 2
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GIPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS,IEA --
GO:0005829 cytosol ISS --
GO:0005903 brush border IEA --
GO:0005938 cell cortex IDA 12857860
GO:0008021 synaptic vesicle 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

1 GeneGo (Thomson Reuters) pathway for GIPC1 Gene
  • G-protein signaling_H-RAS regulation pathway

Gene Ontology (GO) - Biological Process for GIPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006605 protein targeting ISS --
GO:0007186 G protein-coupled receptor signaling pathway NAS 9770488
GO:0007268 chemical synaptic transmission ISS --
GO:0014047 glutamate secretion ISS --
GO:0030511 positive regulation of transforming growth factor beta receptor signaling pathway 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

mRNA/cDNA for GIPC1 Gene

6 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

Expression for GIPC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for GIPC1 Gene



Protein tissue co-expression partners for GIPC1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GIPC1

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.

Evidence on tissue expression from TISSUES for GIPC1 Gene

  • Nervous system(4.5)
  • Lung(4.3)
  • Muscle(4.3)
  • Liver(4.2)
  • Skin(2.7)
  • Pancreas(2.2)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with GIPC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia GIPC1 31 30
  • 97.9 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GIPC1 31
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GIPC1 31 30
  • 92.39 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GIPC1 31 30
  • 92.19 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GIPC1 31
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gipc1 17 31 30
  • 87.99 (n)
rat
(Rattus norvegicus)
Mammalia Gipc1 30
  • 86.99 (n)
lizard
(Anolis carolinensis)
Reptilia GIPC1 31
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gipc2 30
  • 67.77 (n)
Str.6557 30
African clawed frog
(Xenopus laevis)
Amphibia Kermit 30
zebrafish
(Danio rerio)
Actinopterygii gipc1 31 30
  • 71.82 (n)
OneToOne
zgc56157 30
fruit fly
(Drosophila melanogaster)
Insecta kermit 31
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gipc-2 31 30
  • 46.95 (n)
ManyToMany
gipc-1 31
  • 31 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 50 (a)
OneToMany
Species where no ortholog for GIPC1 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GIPC1: view image

Paralogs for GIPC1 Gene

Paralogs for GIPC1 Gene

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

  • GIPC1_HUMAN
  • K7EIT0_HUMAN
  • K7EJ33_HUMAN
  • K7ELJ2_HUMAN
  • K7EM11_HUMAN
  • K7ESN1_HUMAN
genes like me logo Genes that share paralogs with GIPC1: view

Variants for GIPC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GIPC1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
782966 Benign: not provided 14,479,503(-) G/A MISSENSE_VARIANT
808488 Uncertain Significance: not provided 14,480,484(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GIPC1 Gene

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

Variant ID Type Subtype PubMed ID
esv2663771 CNV deletion 23128226
esv2665387 CNV deletion 23128226
esv3643742 CNV loss 21293372
nsv470127 CNV loss 18288195
nsv527867 CNV loss 19592680
nsv817814 CNV loss 17921354
nsv833764 CNV loss 17160897
nsv961184 CNV duplication 23825009

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)

Additional Variant Information for GIPC1 Gene

Human Gene Mutation Database (HGMD)
GIPC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GIPC1

SNP Genotyping and Copy Number Assay Products

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

Disorders for GIPC1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for GIPC1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 37
  • dfnb37
deafness, autosomal dominant 22
  • dfna22
urethral calculus
  • urethral stone
deafness, autosomal recessive 15
  • dfnb15
ovary serous adenocarcinoma
  • malignant ovarian serous tumor
- elite association - COSMIC cancer census association via MalaCards
Search GIPC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GIPC1

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 GIPC1: view

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

Publications for GIPC1 Gene

  1. The C-terminus of the HTLV-1 Tax oncoprotein mediates interaction with the PDZ domain of cellular proteins. (PMID: 9482110) Rousset R … Jalinot P (Oncogene 1998) 2 3 4 54
  2. GIPC, a PDZ domain containing protein, interacts specifically with the C terminus of RGS-GAIP. (PMID: 9770488) De Vries L … Farquhar MG (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 54
  3. 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 41 54
  4. 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 54
  5. An essential role for the Glut1 PDZ-binding motif in growth factor regulation of Glut1 degradation and trafficking. (PMID: 19016655) Wieman HL … Rathmell JC (The Biochemical journal 2009) 3 23 54

Products for GIPC1 Gene

Sources for GIPC1 Gene