Gene

gipc1

ID
ZDB-GENE-060726-1
Name
GIPC PDZ domain containing family, member 1
Symbol
gipc1 Nomenclature History
Previous Names
  • rgs19ip1 (1)
  • synectin (1)
  • z-synectin (1)
Type
protein_coding_gene
Location
Chr: 3 Mapping Details/Browsers
Description
Enables MAP kinase activity. Acts upstream of or within with a positive effect on sprouting angiogenesis. Acts upstream of or within angiogenesis; artery morphogenesis; and lymphangiogenesis. Is expressed in dorsal aorta; neural tube; posterior cardinal vein; and somite. Human ortholog(s) of this gene implicated in oculopharyngodistal myopathy 2. Orthologous to human GIPC1 (GIPC PDZ domain containing family member 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
4 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
8 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
sa40158Allele with one point mutationUnknownPremature StopENU
skt1Allele with one delinsUnknownUnknownCRISPR
skt2Allele with one insertionUnknownUnknownCRISPR
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
CRISPR1-gipc1Carretero-Ortega et al., 2019
MO1-gipc1N/A (3)
MO2-gipc1N/A (2)
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Human Disease
Associated With gipc1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
oculopharyngodistal myopathy 2 Alliance Oculopharyngodistal myopathy 2 618940
Associated With gipc1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001478 PDZ domain
Family IPR017379 PDZ domain-containing protein GIPC1/2/3
Homologous_superfamily IPR036034 PDZ superfamily
Domain Details Per Protein
Protein Additional Resources Length PDZ domain PDZ domain-containing protein GIPC1/2/3 PDZ superfamily
UniProtKB:Q6B337 InterPro 335
Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 3
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA gipc1-201 (1) Ensembl 1,348 nt
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-120F15
EncodescDNAMGC:194530ZFIN Curated Data
EncodescDNAMGC:194545ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanGIPC119
Conserved genome location (synteny) (1)
Amino acid sequence comparison (1)
MouseGipc18
Amino acid sequence comparison (1)
Conserved genome location (synteny) (1)
Citations
1 - 8 of 8
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