Human Gene GIPC1 (ENST00000586027.5) from GENCODE V44
  Description: Homo sapiens GIPC PDZ domain containing family member 1 (GIPC1), transcript variant 3, mRNA. (from RefSeq NM_202468)
RefSeq Summary (NM_202468): GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM, Apr 2009].
Gencode Transcript: ENST00000586027.5
Gencode Gene: ENSG00000123159.16
Transcript (Including UTRs)
   Position: hg38 chr19:14,478,246-14,496,132 Size: 17,887 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg38 chr19:14,478,416-14,482,976 Size: 4,561 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:14,478,246-14,496,132)mRNA (may differ from genome)Protein (333 aa)
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HGNCLynxMalacardsMGIneXtProtOMIM
PubMedUniProtKBWikipediaBioGrid 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
 

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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

-  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 -87.30214-0.408 Picture PostScript Text
3' UTR -70.50170-0.415 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 (Also known as DHR or GLGF)

ModBase Predicted Comparative 3D Structure on O14908
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-  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
Genome BrowserGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsemblWormBase 
Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence 
AlignmentAlignmentAlignmentAlignmentAlignment 

-  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.
AK290252 - Homo sapiens cDNA FLJ76072 complete cds, highly similar to Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 1, mRNA.
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.
JC506671 - Sequence 39 from Patent EP2733220.
JC737783 - Sequence 39 from Patent WO2014075939.
JD100819 - Sequence 81843 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K4I3, A8MZG3, C19orf3, ENST00000586027.1, ENST00000586027.2, ENST00000586027.3, ENST00000586027.4, GIPC, GIPC1_HUMAN, NM_202468, O14908, Q9BTC9, RGS19IP1, uc002myu.1, uc002myu.2, uc002myu.3, uc002myu.4, uc002myu.5
UCSC ID: ENST00000586027.5
RefSeq Accession: NM_202468
Protein: O14908 (aka GIPC1_HUMAN)
CCDS: CCDS12310.1

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