Gipc3 GIPC PDZ domain containing family, member 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gipc3provided by MGI
Official Full Name: GIPC PDZ domain containing family, member 3provided by MGI
Primary source: MGI:MGI:2387006
See related: Ensembl:ENSMUSG00000034872 AllianceGenome:MGI:2387006
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ahl5; Rgs19ip3
Summary: Is expressed in several structures, including brain; gonad; lung; and submandibular gland. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 15. Orthologous to human GIPC3 (GIPC PDZ domain containing family member 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in lung adult (RPKM 5.9), adrenal adult (RPKM 2.0) and 15 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 C1; 10 39.72 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (81171096..81179452, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (81335262..81343620, complement)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GIPC3 couples to MYO6 and PDZ domain proteins, and shapes the hair cell apical region.
Title: GIPC3 couples to MYO6 and PDZ domain proteins, and shapes the hair cell apical region.
A PDZ Protein GIPC3 Positively Modulates Hedgehog Signaling and Melanoma Growth.
Title: A PDZ Protein GIPC3 Positively Modulates Hedgehog Signaling and Melanoma Growth.
the physiological significance of GIPC3 as a genetic interactor of BRCA2 is supported by the observation that Brca2-null embryos with Gipc3 overexpression are developmentally more advanced than their control littermates. Taken together, we have uncovered a novel role for GIPC3 as a BRCA2 genetic interactor.
Title: Survival of BRCA2-Deficient Cells Is Promoted by GIPC3, a Novel Genetic Interactor of BRCA2.
Gipc3 plays a pivotal role in acoustic signal acquisition and propagation in cochlear hair cells, while mutations are associated with audiogenic seizures and sensorineural hearing loss.
Title: Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2)
QTL (2) 1 citation
Endonuclease-mediated (1)

General gene information

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Markers

Rgs19ip3-pending (e-PCR), detects polymorphism
- UniSTS:240643

NoName (e-PCR)
- UniSTS:487673

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info

General protein information

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Preferred Names: PDZ domain-containing protein GIPC3

Names: age related hearing loss 5; regulator of G-protein signaling 19 interacting protein 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001428337.1 → NP_001415266.1 PDZ domain-containing protein GIPC3 isoform 1

Status: VALIDATED

Source sequence(s)

AC155937
NM_001428338.1 → NP_001415267.1 PDZ domain-containing protein GIPC3 isoform 2

Status: VALIDATED

Source sequence(s)

AC155937
NM_148951.3 → NP_683753.1 PDZ domain-containing protein GIPC3 isoform 3

See identical proteins and their annotated locations for NP_683753.1

Status: VALIDATED

Source sequence(s)

AC155937

Consensus CDS

CCDS24054.1

UniProtKB/Swiss-Prot

Q8R5M0

Related

ENSMUSP00000049236.6, ENSMUST00000045102.7

Conserved Domains (1) summary

cd00992
Location:95 → 168

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000076.7 Reference GRCm39 C57BL/6J

Range

81171096..81179452 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030244978.2 → XP_030100838.1 PDZ domain-containing protein GIPC3 isoform X2

Conserved Domains (2) summary

PHA03247
Location:800 → 1182

PHA03247; large tegument protein UL36; Provisional

cd00992
Location:182 → 255

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
XM_030244977.2 → XP_030100837.1 PDZ domain-containing protein GIPC3 isoform X1

Conserved Domains (2) summary

PHA03247
Location:821 → 1203

PHA03247; large tegument protein UL36; Provisional

cd00992
Location:182 → 255

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
XM_030244979.2 → XP_030100839.1 PDZ domain-containing protein GIPC3 isoform X3

Conserved Domains (2) summary

PHA03247
Location:311 → 715

PHA03247; large tegument protein UL36; Provisional

cd00992
Location:182 → 255

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
XM_030244980.2 → XP_030100840.1 PDZ domain-containing protein GIPC3 isoform X4

Conserved Domains (2) summary

PHA03247
Location:353 → 660

PHA03247; large tegument protein UL36; Provisional

cd00992
Location:182 → 255

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
XM_030244981.2 → XP_030100841.1 PDZ domain-containing protein GIPC3 isoform X5

Conserved Domains (2) summary

PHA03381
Location:20 → 127

PHA03381; tegument protein VP22; Provisional

cd00992
Location:182 → 255

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...