GIPC3
| GIPC3 | ||||||
|---|---|---|---|---|---|---|
| Identifiers | ||||||
Ensembl | ||||||
| UniProt | ||||||
| RefSeq (mRNA) | ||||||
| RefSeq (protein) | ||||||
| Location (UCSC) | Chr 19: 3.59 – 3.59 Mb | Chr 10: 81.34 – 81.34 Mb | ||||
| PubMed search | [3] | [4] | ||||
| View/Edit Human | View/Edit Mouse |
PDZ domain-containing protein GIPC3 is a protein that in humans is encoded by the GIPC3 gene.[5][6] GIPC3 is a member of the GIPC (GAIP-interacting protein C terminus) gene family that also includes GIPC1 and GIPC2.[7] The encoded protein, GIPC3, features a centrally located PDZ domain, which is flanked on each side by a single GIPC-homology domain.[8]
Function
GIPC3 is thought to be important for acoustic signal acquisition and propagation in
Gene
The human GIPC3 gene is located on the short arm of chromosome 19 at p13.3. The locus extends over about 8 kbp and contains the six coding exons that give rise to an open reading frame of 639 nucleotides encoding the GIPC3 protein of 312 amino acids. A single PDZ domain is located at amino acid position 122-189. In the mouse, Gipc3 is located on chromosome 10 at cytogenetic band qC1. The genomic region covers a distance of 5.5 kbp. The six coding exons encode a protein of 297 amino acids. The PDZ domain is located at amino acid position 107-174.
Genetics
In the mouse, a missense mutation in Gipc3 (c.343G>A) leads to a non-synonymous amino acid replacement (p.G115R) in the loop connecting two beta strands of the PDZ domain. Glycine 115 is conserved in all GIPC proteins.[9] Missense (c.785C>T; p. L262R) and
Phenotypes
Mice of the
In humans, individuals with the p.W301X missense mutation (DFNB95) exhibit bilateral sensorineural hearing loss with threshold shifts of 70-80 dB hearing levels as early as 11 months of age.
Interactions
The PDZ domain of GIPC family proteins interact with:[7]
- Frizzled-3 (FZD3) class of WNT receptor,
- insulin-like growth factor-I receptor (IGF1R),
- receptor tyrosine kinase TrkA,
- TGF-beta type III receptor (TGF-beta RIII),
- integrin alpha6A (ITGA6),
- transmembrane glycoprotein TPBG, and
- RGS19/RGS-GAIP.
See also
- GIPC PDZ domain containing family, member 1, GIPC1
- GIPC PDZ domain containing family, member 2, GIPC2
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000179855 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034872 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: GIPC PDZ domain containing family".
- PMID 11836571.
- ^ PMID 12011974.
- PMID 12011974.
- PMID 21326233.
- S2CID 23928550.
- PMID 12451109.
Further reading
- Vega A, Salas A, Milne RL, et al. (2009). "Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study". Gynecol. Oncol. 112 (1): 210–4. PMID 18950845.
- Matsuoka S, Ballif BA, Smogorzewska A, et al. (2007). "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage". Science. 316 (5828): 1160–6. S2CID 16648052.