TRPC4AP

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

TRPC4AP
Identifiers
Aliases	TRPC4AP, C20orf188, PPP1R158, TRRP4AP, TRUSS, transient receptor potential cation channel subfamily C member 4 associated protein
External IDs	OMIM: 608430 MGI: 1930751 HomoloGene: 9224 GeneCards: TRPC4AP
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20q11.22 Start 35,002,404 bp[1] End 35,092,807 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 H1|2 77.26 cM Start 155,634,271 bp[2] End 155,692,384 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • phosphatase binding • GO:0001948 protein binding • calcium channel activity Cellular component • cell membrane • Cul4A-RING E3 ubiquitin ligase complex Biological process • calcium ion transmembrane transport • protein ubiquitination • hair follicle maturation • ubiquitin-dependent protein catabolic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	26133	56407
Ensembl	ENSG00000100991	ENSMUSG00000038324
UniProt	Q8TEL6	Q9JLV2
RefSeq (mRNA)	NM_015638 NM_199368	NM_001163452 NM_019828
RefSeq (protein)	NP_056453 NP_955400	NP_001156924 NP_062802
Location (UCSC)	Chr 20: 35 – 35.09 Mb	Chr 2: 155.63 – 155.69 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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[5]
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[6]
Citrobacter infection	Normal[7]
All tests and analysis from[8][9]

Model organisms have been used in the study of TRPC4AP function. A conditional knockout mouse line, called Trpc4ap^{tm1a(KOMP)Wtsi}[10][11] 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.[12][13][14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[8][15] Twenty five tests were carried out on mutant mice and three significant abnormalities were observed.[8] 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.[8]

Interactions

TRPC4AP has been shown to interact with TNFRSF1A.[16]

See also

• TRPC

Further reading

References

1. GRCh38: Ensembl release 89: ENSG00000100991 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000038324 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Dysmorphology data for Trpc4ap". Wellcome Trust Sanger Institute.
6. "Salmonella infection data for Trpc4ap". Wellcome Trust Sanger Institute.
7. "Citrobacter infection data for Trpc4ap". Wellcome Trust Sanger Institute.
8. 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.
9. Mouse Resources Portal, Wellcome Trust Sanger Institute.
10. "International Knockout Mouse Consortium".
11. "Mouse Genome Informatics".
12. 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.
13. Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
14. 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.
15. 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.
16. 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.