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Protein

PDZ domain-containing protein GIPC3

Gene

Gipc3

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion.1 Publication

Names & Taxonomyi

Protein namesi
Recommended name:
PDZ domain-containing protein GIPC3
Alternative name(s):
Regulator of G-protein signaling 19-interacting protein 3
Gene namesi
Name:Gipc3
Synonyms:Rgs19ip3
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 10

Organism-specific databases

MGIiMGI:2387006. Gipc3.

Pathology & Biotechi

Involvement in diseasei

Defects in GIPC3 underlie the age-related hearing loss 5 (ahl5) and juvenile audiogenic monogenic seizure (jams1) phenotypes. Ahl5 mice show irregular structure of the stereocilia bundle of outer and inner hair cells, late-onset degeneration of the organ of Corti. The spiral ganglion exhibits a severe loss of neurons.

Keywords - Diseasei

Deafness, Disease mutation

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 297297PDZ domain-containing protein GIPC3PRO_0000247192Add
BLAST

Proteomic databases

EPDiQ8R5M0.
MaxQBiQ8R5M0.
PaxDbiQ8R5M0.
PRIDEiQ8R5M0.

PTM databases

PhosphoSiteiQ8R5M0.

Expressioni

Tissue specificityi

Expressed in adult lung, brain and testis. In the inner ear, it is expressed in the inner and outer hair cells of the organ of Corti. Also expressed in cochlear spiral ganglion neurons.2 Publications

Gene expression databases

BgeeiQ8R5M0.
CleanExiMM_GIPC3.
GenevisibleiQ8R5M0. MM.

Interactioni

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000049236.

Structurei

3D structure databases

ProteinModelPortaliQ8R5M0.
SMRiQ8R5M0. Positions 93-181.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini97 – 17781PDZPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the GIPC family.Curated
Contains 1 PDZ (DHR) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3938. Eukaryota.
ENOG410XQ87. LUCA.
GeneTreeiENSGT00390000003420.
HOGENOMiHOG000293347.
HOVERGENiHBG000898.
InParanoidiQ8R5M0.
KOiK20056.
OMAiGEAHDAC.
OrthoDBiEOG793B86.
PhylomeDBiQ8R5M0.
TreeFamiTF313878.

Family and domain databases

Gene3Di2.30.42.10. 1 hit.
InterProiIPR001478. PDZ.
IPR017379. UCP038083_PDZ.
[Graphical view]
PfamiPF00595. PDZ. 1 hit.
[Graphical view]
PIRSFiPIRSF038083. UCP038083_GIPC. 1 hit.
SMARTiSM00228. PDZ. 1 hit.
[Graphical view]
SUPFAMiSSF50156. SSF50156. 1 hit.
PROSITEiPS50106. PDZ. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8R5M0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDSAAPREPG ATEPPARARP RLVFRTQLAH GSPTGRIEGF TNVRELYAKI
60 70 80 90 100
AEAFGIAPTE ILFCTLNSHK VDMQKLLGGQ IGLEDFIFAH VRGETKEVEV
110 120 130 140 150
TKTEDALGLT ITDNGAGYAF IKRIKEGSII NRIEAVCVGD SIEAINDHSI
160 170 180 190 200
VGCRHYEVAK MLRELPKSQP FTLRLVQPRR AFDMIGQRSR SSKCPVEAKV
210 220 230 240 250
SSGRETLRLR SGGAATVEEA PSDVEAAAAR RVDDLLESYM GIRDPELAAA
260 270 280 290
VVETARSSAG AQAFARGLDA VLGEFAFPDE FVVEVWAAIG EAHDACG
Length:297
Mass (Da):32,108
Last modified:June 1, 2002 - v1
Checksum:i651CE2FDE70B2D57
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti115 – 1151G → R in ahl5. 1 Publication

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB074494 mRNA. Translation: BAB84713.1.
CCDSiCCDS24054.1.
RefSeqiNP_683753.1. NM_148951.1.
UniGeneiMm.218755.

Genome annotation databases

EnsembliENSMUST00000045102; ENSMUSP00000049236; ENSMUSG00000034872.
GeneIDi209047.
KEGGimmu:209047.
UCSCiuc007ghi.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB074494 mRNA. Translation: BAB84713.1.
CCDSiCCDS24054.1.
RefSeqiNP_683753.1. NM_148951.1.
UniGeneiMm.218755.

3D structure databases

ProteinModelPortaliQ8R5M0.
SMRiQ8R5M0. Positions 93-181.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000049236.

PTM databases

PhosphoSiteiQ8R5M0.

Proteomic databases

EPDiQ8R5M0.
MaxQBiQ8R5M0.
PaxDbiQ8R5M0.
PRIDEiQ8R5M0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000045102; ENSMUSP00000049236; ENSMUSG00000034872.
GeneIDi209047.
KEGGimmu:209047.
UCSCiuc007ghi.1. mouse.

Organism-specific databases

CTDi126326.
MGIiMGI:2387006. Gipc3.

Phylogenomic databases

eggNOGiKOG3938. Eukaryota.
ENOG410XQ87. LUCA.
GeneTreeiENSGT00390000003420.
HOGENOMiHOG000293347.
HOVERGENiHBG000898.
InParanoidiQ8R5M0.
KOiK20056.
OMAiGEAHDAC.
OrthoDBiEOG793B86.
PhylomeDBiQ8R5M0.
TreeFamiTF313878.

Miscellaneous databases

PROiQ8R5M0.
SOURCEiSearch...

Gene expression databases

BgeeiQ8R5M0.
CleanExiMM_GIPC3.
GenevisibleiQ8R5M0. MM.

Family and domain databases

Gene3Di2.30.42.10. 1 hit.
InterProiIPR001478. PDZ.
IPR017379. UCP038083_PDZ.
[Graphical view]
PfamiPF00595. PDZ. 1 hit.
[Graphical view]
PIRSFiPIRSF038083. UCP038083_GIPC. 1 hit.
SMARTiSM00228. PDZ. 1 hit.
[Graphical view]
SUPFAMiSSF50156. SSF50156. 1 hit.
PROSITEiPS50106. PDZ. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and characterization of mouse Gipc3."
    Saitoh T., Mine T., Katoh M.
    Int. J. Mol. Med. 9:251-256(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    Tissue: Kidney.
  2. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Lung and Testis.
  3. Cited for: FUNCTION, TISSUE SPECIFICITY, DISEASE, VARIANT AHL5 ARG-115.

Entry informationi

Entry nameiGIPC3_MOUSE
AccessioniPrimary (citable) accession number: Q8R5M0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: June 1, 2002
Last modified: June 8, 2016
This is version 86 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.