TRPC4AP

Transient receptor potential cation channel, subfamily C, member 4 associated protein
Identifiers
Symbols	TRPC4AP ; C20orf188; PPP1R158; TRRP4AP; TRUSS
External IDs	OMIM: 608430 MGI: 1930751 HomoloGene: 9224 GeneCards: TRPC4AP Gene
Gene ontology Molecular function • protein binding • phosphatase binding Cellular component • plasma membrane • Cul4A-RING E3 ubiquitin ligase complex Biological process • ubiquitin-dependent protein catabolic process • protein ubiquitination • ion transmembrane transport • transmembrane transport • calcium ion transmembrane transport Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	26133	56407
Ensembl	ENSG00000100991	ENSMUSG00000038324
UniProt	Q8TEL6	Q9JLV2
RefSeq (mRNA)	NM_015638	NM_001163452
RefSeq (protein)	NP_056453	NP_001156924
Location (UCSC)	Chr 20: 35 – 35.09 Mb	Chr 2: 155.63 – 155.69 Mb
PubMed search

Trpc4-associated protein is a protein that in humans is encoded by the TRPC4AP gene.

Model organisms

Trpc4ap knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Abnormal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Abnormal[1]
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Plasma immunoglobulins	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Brain histopathology	Normal
Eye Histopathology	Normal
Salmonella infection	Normal[2]
Citrobacter infection	Normal[3]
All tests and analysis from[4][5]

Model organisms have been used in the study of TRPC4AP function. A conditional knockout mouse line, called Trpc4ap^{tm1a(KOMP)Wtsi[6][7]} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.^[8][9][10]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[4][11] Twenty five tests were carried out on mutant mice and three significant abnormalities were observed.^[4] Few homozygous mutant embryos were identified during gestation, and thus fewer than expected survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; females had an abnormal anagen phase of the hair cycle.^[4]

Interactions

TRPC4AP has been shown to interact with TNFRSF1A.^[12]

See also

• TRPC

References

1. "Dysmorphology data for Trpc4ap". Wellcome Trust Sanger Institute.
2. "Salmonella infection data for Trpc4ap". Wellcome Trust Sanger Institute.
3. "Citrobacter infection data for Trpc4ap". Wellcome Trust Sanger Institute.
4. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
5. Mouse Resources Portal, Wellcome Trust Sanger Institute.
6. "International Knockout Mouse Consortium".
7. "Mouse Genome Informatics".
8. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
9. Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
10. Collins FS, Rossant J, Wurst W (2007). "A mouse for all reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
11. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.
12. Soond SM, Terry JL, Colbert JD, Riches DW (Nov 2003). "TRUSS, a novel tumor necrosis factor receptor 1 scaffolding protein that mediates activation of the transcription factor NF-kappaB". Mol. Cell. Biol. 23 (22): 8334–44. doi:10.1128/MCB.23.22.8334-8344.2003. PMC 262424. PMID 14585990.