Human Gene GIPC1 (ENST00000393033.9_7) from GENCODE V47lift37
  Description: GIPC PDZ domain containing family member 1, transcript variant 1 (from RefSeq NM_005716.4)
Gencode Transcript: ENST00000393033.9_7
Gencode Gene: ENSG00000123159.16_11
Transcript (Including UTRs)
   Position: hg19 chr19:14,588,574-14,606,939 Size: 18,366 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr19:14,589,228-14,593,788 Size: 4,561 Coding Exon Count: 6 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:14,588,574-14,606,939)mRNA (may differ from genome)Protein (333 aa)
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WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GIPC1_HUMAN
DESCRIPTION: RecName: Full=PDZ domain-containing protein GIPC1; AltName: Full=GAIP C-terminus-interacting protein; AltName: Full=RGS-GAIP-interacting protein; AltName: Full=RGS19-interacting protein 1; AltName: Full=Tax interaction protein 2; Short=TIP-2;
FUNCTION: May be involved in G protein-linked signaling.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein.
TISSUE SPECIFICITY: Widely expressed.
SIMILARITY: Belongs to the GIPC family.
SIMILARITY: Contains 1 PDZ (DHR) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GIPC1
Diseases sorted by gene-association score: cholesterol embolism (9), intracranial embolism (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 142.88 RPKM in Esophagus - Mucosa
Total median expression: 1871.21 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -98.50265-0.372 Picture PostScript Text
3' UTR -284.00654-0.434 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001478 - PDZ
IPR017379 - UCP038083_PDZ

Pfam Domains:
PF00595 - PDZ domain

SCOP Domains:
50156 - PDZ domain-like

ModBase Predicted Comparative 3D Structure on O14908
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005102 receptor binding
GO:0005515 protein binding
GO:0017022 myosin binding
GO:0030165 PDZ domain binding
GO:0042803 protein homodimerization activity
GO:0045296 cadherin binding

Biological Process:
GO:0006605 protein targeting
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007268 chemical synaptic transmission
GO:0014047 glutamate secretion
GO:0030511 positive regulation of transforming growth factor beta receptor signaling pathway
GO:0031647 regulation of protein stability
GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0032467 positive regulation of cytokinesis
GO:0043542 endothelial cell migration
GO:0048167 regulation of synaptic plasticity

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005903 brush border
GO:0005938 cell cortex
GO:0008021 synaptic vesicle
GO:0012506 vesicle membrane
GO:0016020 membrane
GO:0030139 endocytic vesicle
GO:0031410 cytoplasmic vesicle
GO:0043197 dendritic spine
GO:0043198 dendritic shaft
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC004226 - Homo sapiens GIPC PDZ domain containing family, member 1, mRNA (cDNA clone IMAGE:3538778), partial cds.
AF089816 - Homo sapiens RGS-GAIP interacting protein GIPC mRNA, complete cds.
BC000410 - Homo sapiens GIPC PDZ domain containing family, member 1, mRNA (cDNA clone MGC:8583 IMAGE:2960992), complete cds.
BC012810 - Homo sapiens GIPC PDZ domain containing family, member 1, mRNA (cDNA clone MGC:3774 IMAGE:2960992), complete cds.
BC016169 - Homo sapiens GIPC PDZ domain containing family, member 1, mRNA (cDNA clone MGC:15889 IMAGE:3530664), complete cds.
AK093820 - Homo sapiens cDNA FLJ36501 fis, clone TKIDN1000062, highly similar to Homo sapiens Tax interaction protein 2 mRNA.
AX748324 - Sequence 1849 from Patent EP1308459.
AK022585 - Homo sapiens cDNA FLJ12523 fis, clone NT2RM2001983, highly similar to Homo sapiens RGS-GAIP interacting protein GIPC mRNA.
AF028824 - Homo sapiens Tax interaction protein 2 mRNA, partial cds.
JD340314 - Sequence 321338 from Patent EP1572962.
JD385992 - Sequence 367016 from Patent EP1572962.
JD397515 - Sequence 378539 from Patent EP1572962.
JD321837 - Sequence 302861 from Patent EP1572962.
JD534065 - Sequence 515089 from Patent EP1572962.
JD184933 - Sequence 165957 from Patent EP1572962.
JD221128 - Sequence 202152 from Patent EP1572962.
JD487621 - Sequence 468645 from Patent EP1572962.
JD364728 - Sequence 345752 from Patent EP1572962.
JD389316 - Sequence 370340 from Patent EP1572962.
AK290252 - Homo sapiens cDNA FLJ76072 complete cds, highly similar to Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 1, mRNA.
JD211187 - Sequence 192211 from Patent EP1572962.
AK290948 - Homo sapiens cDNA FLJ76166 complete cds, highly similar to Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 2, mRNA.
JD463408 - Sequence 444432 from Patent EP1572962.
JD130669 - Sequence 111693 from Patent EP1572962.
JD372723 - Sequence 353747 from Patent EP1572962.
JD370661 - Sequence 351685 from Patent EP1572962.
JD458735 - Sequence 439759 from Patent EP1572962.
DQ894539 - Synthetic construct Homo sapiens clone IMAGE:100008999; FLH176175.01L; RZPDo839A05121D GIPC PDZ domain containing family, member 1 (GIPC1) gene, encodes complete protein.
AB385235 - Synthetic construct DNA, clone: pF1KB9477, Homo sapiens GIPC1 gene for PDZ domain-containing protein GIPC1, complete cds, without stop codon, in Flexi system.
AK310929 - Homo sapiens cDNA, FLJ17971.
JD176957 - Sequence 157981 from Patent EP1572962.
JD100819 - Sequence 81843 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K4I3, A8MZG3, C19orf3, ENST00000393033.1, ENST00000393033.2, ENST00000393033.3, ENST00000393033.4, ENST00000393033.5, ENST00000393033.6, ENST00000393033.7, ENST00000393033.8, GIPC, GIPC1_HUMAN, NM_005716, O14908, Q9BTC9, RGS19IP1, uc318vob.1, uc318vob.2
UCSC ID: ENST00000393033.9_7
RefSeq Accession: NM_005716.4
Protein: O14908 (aka GIPC1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.