GIPC1
PDZ domain-containing protein GIPC1
Also known as: C19orf3, GIPC, GIPC1_HUMAN, GLUT1CBP, Hs.6454, NIP, RGS19IP1, SEMCAP, SYNECTIN, TIP-2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O14908
- Gene
- GIPC1
- Ensembl
- ENSG00000123159
- Chromosome
- 19
- Canonical length
- 333 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Plasma membrane,Cell Junctions
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
333 residues, UniProt reviewed canonical sequence.
>O14908|GIPC1
1 MPLGLGRRKK APPLVENEEA EPGRGGLGVG EPGPLGGGGS GGPQMGLPPP PPALRPRLVF
61 HTQLAHGSPT GRIEGFTNVK ELYGKIAEAF RLPTAEVMFC TLNTHKVDMD KLLGGQIGLE
121 DFIFAHVKGQ RKEVEVFKSE DALGLTITDN GAGYAFIKRI KEGSVIDHIH LISVGDMIEA
181 INGQSLLGCR HYEVARLLKE LPRGRTFTLK LTEPRKAFDM ISQRSAGGRP GSGPQLGTGR
241 GTLRLRSRGP ATVEDLPSAF EEKAIEKVDD LLESYMGIRD TELAATMVEL GKDKRNPDEL
301 AEALDERLGD FAFPDEFVFD VWGAIGDAKV GRYLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GIPC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 338 nTPM
Expression across tissuesHPA
Tissue
- esophagus: 338 nTPM
- skin: 144 nTPM
- vagina: 134 nTPM
- spinal cord: 129 nTPM
- colon: 114 nTPM
- cervix: 113 nTPM
Single-cell type
- esophageal apical cells: 1,929 nCPM
- esophageal suprabasal cells: 625 nCPM
- colonocytes: 463 nCPM
- breast lactating cells: 359 nCPM
- suprabasal keratinocytes: 306 nCPM
- alveolar cells type 1: 303 nCPM
Immune cell
- T-reg: 12 nTPM
- gdT-cell: 5.2 nTPM
- memory CD4 T-cell: 5.1 nTPM
- memory CD8 T-cell: 5.1 nTPM
- MAIT T-cell: 4.7 nTPM
- naive CD4 T-cell: 4.2 nTPM
Brain region
- midbrain: 104 nTPM
- basal ganglia: 104 nTPM
- thalamus: 103 nTPM
- white matter: 102 nTPM
- medulla oblongata: 101 nTPM
- cerebellum: 99 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GIPC1.
Disease | AllUniProt
Conditions GIPC1 is implicated in, by any mechanism.
- Oculopharyngodistal myopathy 2 (OPDM2) MIM:618940
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.96
- gnomAD pLI
- 0.01
- gnomAD missense Z
- 0.54
- DepMap mean gene effect
- -0.08
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to interleukin-7
- chemical synaptic transmission
- endothelial cell migration
- G protein-coupled receptor signaling pathway
- glutamate secretion
- negative regulation of proteasomal ubiquitin-dependent protein catabolic process
- positive regulation of cytokinesis
- positive regulation of melanin biosynthetic process
- positive regulation of transforming growth factor beta receptor signaling pathway
- presynaptic modulation of chemical synaptic transmission
- protein targeting
- regulation of protein stability
- regulation of synaptic plasticity
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GIPC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GIPC1 as an antibody target. Whether an autoantibody or antibody against GIPC1 could matter depends on whether native GIPC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GIPC1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label GIPC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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