TRPC4AP

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

TRPC4AP
Identifiers
AliasesTRPC4AP, C20orf188, PPP1R158, TRRP4AP, TRUSS, transient receptor potential cation channel subfamily C member 4 associated protein
External IDsOMIM: 608430 MGI: 1930751 HomoloGene: 9224 GeneCards: TRPC4AP
Gene location (Human)
Chr.Chromosome 20 (human)[1]
Band20q11.22Start35,002,404 bp[1]
End35,092,807 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 2: 155.63 – 155.69 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Model organisms

Model organisms have been used in the study of TRPC4AP function. A conditional knockout mouse line, called Trpc4aptm1a(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

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. S2CID 85911512.
  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. S2CID 18872015.
  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.


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