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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | oculopharyngodistal myopathy 2 | | ISO | GIPC1 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | oculopharyngodistal myopathy 2 | | ISO | GIPC1 (Homo sapiens) | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | Protein interactions with the glucose transporter binding protein GLUT1CBP that provide a link between GLUT1 and the cytoskeleton. | Bunn RC, etal., Mol Biol Cell 1999 Apr;10(4):819-32. |
2. | Cloning and characterization of neuropilin-1-interacting protein: a PSD-95/Dlg/ZO-1 domain-containing protein that interacts with the cytoplasmic domain of neuropilin-1. | Cai H and Reed RR, J Neurosci. 1999 Aug 1;19(15):6519-27. |
3. | GIPC, a PDZ domain containing protein, interacts specifically with the C terminus of RGS-GAIP. | De Vries L, etal., Proc Natl Acad Sci U S A 1998 Oct 13;95(21):12340-5. |
4. | Promotion of G alpha i3 subunit down-regulation by GIPN, a putative E3 ubiquitin ligase that interacts with RGS-GAIP. | Fischer T, etal., Proc Natl Acad Sci U S A 2003 Jul 8;100(14):8270-5. Epub 2003 Jun 25. |
5. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
6. | Interactions of GIPC with dopamine D2, D3 but not D4 receptors define a novel mode of regulation of G protein-coupled receptors. | Jeanneteau F, etal., Mol Biol Cell. 2004 Feb;15(2):696-705. Epub 2003 Nov 14. |
7. | Synectin in the nervous system: expression pattern and potential as a binding partner of neurotrophin receptors. | Kato H, etal., FEBS Lett. 2004 Aug 13;572(1-3):123-8. |
8. | A PDZ-binding motif as a critical determinant of Rho guanine exchange factor function and cell phenotype. | Liu M and Horowitz A, Mol Biol Cell. 2006 Apr;17(4):1880-7. Epub 2006 Feb 8. |
9. | GAIP, GIPC and Galphai3 are concentrated in endocytic compartments of proximal tubule cells: putative role in regulating megalin's function. | Lou X, etal., J Am Soc Nephrol. 2002 Apr;13(4):918-27. |
10. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
11. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
12. | GOA pipeline | RGD automated data pipeline |
13. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
14. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
15. | Tentative Sequence Identification Numbers | Tentative Sequence Data IDs. TIGR Gene Index, Rat Data |
16. | BDNF-mediated neurotransmission relies upon a myosin VI motor complex. | Yano H, etal., Nat Neurosci. 2006 Aug;9(8):1009-18. doi: 10.1038/nn1730. Epub 2006 Jul 2. |
PMID:11251075 | PMID:11546783 | PMID:12857860 | PMID:14499480 | PMID:15458844 | PMID:15459234 | PMID:15975910 | PMID:16316992 | PMID:16908842 | PMID:17959809 | PMID:19056867 | PMID:19581409 |
PMID:19946888 | PMID:21291857 | PMID:22888021 | PMID:23376485 | PMID:25468996 | PMID:29581031 |
Gipc1 (Rattus norvegicus - Norway rat) |
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GIPC1 (Homo sapiens - human) |
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Gipc1 (Mus musculus - house mouse) |
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Gipc1 (Chinchilla lanigera - long-tailed chinchilla) |
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GIPC1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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GIPC1 (Canis lupus familiaris - dog) |
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Gipc1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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GIPC1 (Sus scrofa - pig) |
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GIPC1 (Chlorocebus sabaeus - green monkey) |
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Variants in Gipc1
77 total Variants ![]() |
The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
RH134027 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 3 | 36 | 57 | 41 | 19 | 41 | 4 | 7 | 74 | 35 | 40 | 11 | 4 |
Low | 7 | 4 | 4 | 1 | 4 | ||||||||
Below cutoff |
RefSeq Transcripts | NM_053341 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006255311 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017601372 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039098035 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039098036 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC096306 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF032120 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF089817 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC061964 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC070505 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH473972 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JACYVU010000313 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000005374 ⟹ ENSRNOP00000005374 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000105318 ⟹ ENSRNOP00000089319 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000112591 ⟹ ENSRNOP00000082767 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_053341 ⟹ NP_445793 | ||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017601372 ⟹ XP_017456861 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039098035 ⟹ XP_038953963 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039098036 ⟹ XP_038953964 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_445793 | (Get FASTA) | NCBI Sequence Viewer |
XP_017456861 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038953963 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038953964 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAC67549 | (Get FASTA) | NCBI Sequence Viewer |
AAC69268 | (Get FASTA) | NCBI Sequence Viewer | |
AAH70505 | (Get FASTA) | NCBI Sequence Viewer | |
EDL92264 | (Get FASTA) | NCBI Sequence Viewer | |
EDL92265 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000005374 | ||
ENSRNOP00000082767 | |||
ENSRNOP00000082767.1 | |||
ENSRNOP00000089319.1 | |||
GenBank Protein | Q9Z254 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_445793 ⟸ NM_053341 |
- UniProtKB: | Q6GR70 (UniProtKB/Swiss-Prot), Q9QUQ4 (UniProtKB/Swiss-Prot), Q9Z254 (UniProtKB/Swiss-Prot), A6IYD6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_017456861 ⟸ XM_017601372 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q6GR70 (UniProtKB/Swiss-Prot), Q9QUQ4 (UniProtKB/Swiss-Prot), Q9Z254 (UniProtKB/Swiss-Prot), A6IYD6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000005374 ⟸ ENSRNOT00000005374 |
RefSeq Acc Id: | XP_038953964 ⟸ XM_039098036 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A6IYD6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038953963 ⟸ XM_039098035 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9Z254 (UniProtKB/Swiss-Prot), Q6GR70 (UniProtKB/Swiss-Prot), Q9QUQ4 (UniProtKB/Swiss-Prot), A6IYD6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSRNOP00000082767 ⟸ ENSRNOT00000112591 |
RefSeq Acc Id: | ENSRNOP00000089319 ⟸ ENSRNOT00000105318 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9Z254-F1-model_v2 | AlphaFold | Q9Z254 | 1-333 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13701002 | ||||||||
Promoter ID: | EPDNEW_R11526 | ||||||||
Type: | initiation region | ||||||||
Name: | Gipc1_1 | ||||||||
Description: | GIPC PDZ domain containing family, member 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | RGD:68338 | AgrOrtholog |
BioCyc Gene | G2FUF-6020 | BioCyc |
Ensembl Genes | ENSRNOG00000003864 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000005374 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSRNOT00000105318.1 | UniProtKB/TrEMBL | |
ENSRNOT00000112591 | ENTREZGENE | |
ENSRNOT00000112591.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.30.42.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
IMAGE_CLONE | IMAGE:5620910 | IMAGE-MGC_LOAD |
IMAGE:7097697 | IMAGE-MGC_LOAD | |
InterPro | GIPC1/2/3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PDZ | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PDZ_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:83823 | UniProtKB/Swiss-Prot |
MGC_CLONE | MGC:72367 | IMAGE-MGC_LOAD |
MGC:91590 | IMAGE-MGC_LOAD | |
NCBI Gene | 83823 | ENTREZGENE |
PANTHER | PDZ DOMAIN-CONTAINING PROTEIN GIPC1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR12259 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | PDZ | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Gipc1 | PhenoGen |
PIRSF | UCP038083_GIPC | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | PDZ | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RatGTEx | ENSRNOG00000003864 | RatGTEx |
SMART | PDZ | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF50156 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TIGR | TC230181 | |
UniProt | A0A8I6ABP2_RAT | UniProtKB/TrEMBL |
A0A8I6G7U9_RAT | UniProtKB/TrEMBL | |
A6IYD6 | ENTREZGENE, UniProtKB/TrEMBL | |
A6IYD7_RAT | UniProtKB/TrEMBL | |
GIPC1_RAT | UniProtKB/Swiss-Prot | |
Q6GR70 | ENTREZGENE | |
Q9QUQ4 | ENTREZGENE | |
Q9Z254 | ENTREZGENE | |
UniProt Secondary | Q6GR70 | UniProtKB/Swiss-Prot |
Q9QUQ4 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2006-03-30 | Gipc1 | GIPC PDZ domain containing family, member 1 | Rgs19ip1 | regulator of G-protein signaling 19 interacting protein 1 | Symbol and Name updated | 1299863 | APPROVED |
2002-06-10 | Rgs19ip1 | regulator of G-protein signaling 19 interacting protein 1 | Name updated | 70584 | APPROVED | ||
2002-02-27 | Rgs19ip1 | regulator of G-protein signaling 19 interacting protein 1 | Symbol and Name updated to reflect Human and Mouse nomenclature | 70292 | APPROVED |
Note Type | Note | Reference |
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gene_cellular_localization | localized to the plasma membrane of transfected HEK293 cells | 1299148 |
gene_domains | contains a central PDZ domain and a C-terminal acyl carrier protein (ACP) domain | 68252 |
gene_function | exclusively binds RGS-GAIP, RGSZ1, and RGSZ2 | 1299148 |