UniProt:O14908 GIPC1

chain
  • chain:1-333
checksum AA980A4B907E3FD9
comment
  • 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.INTERACTION Widely expressed (PubMed:9770488). Expressed in skeletal muscle (at protein level) (PubMed:32413282).DISEASE The disease may be caused by variants affecting the gene represented in this entry. GGC repeat expansions in the 5'-UTR ranging from 73 to 164 were reported in patients, compared with a normal range from 12 to 32 in unaffected individuals. Patient skeletal muscle showed similar protein levels to those of unaffected individuals.SIMILARITY Belongs to the GIPC family.
crossReference
databaseName UniProt
dbId 55646
description
  • recommendedName: PDZ domain-containing protein GIPC1 alternativeName: GAIP C-terminus-interacting protein alternativeName: RGS-GAIP-interacting protein alternativeName: RGS19-interacting protein 1 alternativeName: Synectin alternativeName: Tax interaction protein 2 shortName: TIP-2
displayName UniProt:O14908 GIPC1
geneName
  • GIPC1
  • C19orf3
  • GIPC
  • RGS19IP1
identifier O14908
isSequenceChanged false
keyword
  • Alternative splicing
  • Congenital muscular dystrophy
  • Cytoplasm
  • Dystroglycanopathy
  • Membrane
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
modified [InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType Protein
name
  • GIPC1
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • GIPC1_HUMAN
  • A8K4I3
  • A8MZG3
  • Q9BTC9
sequenceLength 333
species [Species:48887] Homo sapiens
stId uniprot:O14908
url http://purl.uniprot.org/uniprot/O14908
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