LRRC16A

Leucine rich repeat containing 16A is a protein that in humans is encoded by the LRRC16A gene.[5] The gene is also known as LRRC16, CARMIL, CARMIL1 or CARMIL1a.[5]

CARMIL1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3LK2, 3LK3
Identifiers
Aliases	CARMIL1, CARMIL, CARMIL1a, LRRC16, dJ501N12.1, dJ501N12.5, LRRC16A, leucine rich repeat containing 16A, capping protein regulator and myosin 1 linker 1
External IDs	OMIM: 609593 MGI: 1915982 HomoloGene: 9757 GeneCards: CARMIL1
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6p22.2 Start 25,279,078 bp[1] End 25,620,530 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13|13 A3.1 Start 24,012,344 bp[2] End 24,280,795 bp[2]
Gene ontology Molecular function • GO:0032403 macromolecular complex binding • GO:0001948 protein binding Cellular component • filamentous actin • cell projection • membrane • cell membrane • macropinosome • cell leading edge • extracellular exosome • cytoskeleton • cell nucleus • lamellipodium • cytoplasm • cytosol • nuclear speck Biological process • barbed-end actin filament uncapping • positive regulation of lamellipodium organization • negative regulation of barbed-end actin filament capping • positive regulation of actin filament polymerization • ruffle organization • actin filament organization • positive regulation of cell migration • actin filament network formation • blood coagulation • positive regulation of substrate adhesion-dependent cell spreading • macropinocytosis • urate metabolic process • cell migration • positive regulation of stress fiber assembly • lamellipodium assembly Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	55604	68732
Ensembl	ENSG00000079691	ENSMUSG00000021338
UniProt	Q5VZK9	Q6EDY6
RefSeq (mRNA)	NM_001173977 NM_017640	NM_026825 NM_177807 NM_001311122 NM_001384122
RefSeq (protein)	NP_001167448 NP_060110	NP_001298051 NP_081101 NP_001371051
Location (UCSC)	Chr 6: 25.28 – 25.62 Mb	Chr 13: 24.01 – 24.28 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Model organisms

Lrrc16a knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology	Normal
Micronucleus test	Normal
Heart weight	Normal
Brain 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 LRRC16A function. A conditional knockout mouse line, called Lrrc16a^{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 — at the Wellcome Trust Sanger Institute.[12][13][14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[8][15] Twenty two tests were carried out on mutant mice but no significant abnormalities were observed.[8]

References

1. GRCh38: Ensembl release 89: ENSG00000079691 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000021338 - 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. "leucine rich repeat containing 16A". Retrieved 2011-12-04.
6. "Salmonella infection data for Lrrc16a". Wellcome Trust Sanger Institute.
7. "Citrobacter infection data for Lrrc16a". Wellcome Trust Sanger Institute.
8. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). 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, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
13. Dolgin E (June 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 (January 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.

Further reading

• Yang, C.; Pring, M.; Wear, M. A.; Huang, M.; Cooper, J. A.; Svitkina, T. M.; Zigmond, S. H. (2005). "Mammalian CARMIL Inhibits Actin Filament Capping by Capping Protein". Developmental Cell. 9 (2): 209–221. doi:10.1016/j.devcel.2005.06.008. PMC 2628720. PMID 16054028.
• Liang, Y.; Niederstrasser, H.; Edwards, M.; Jackson, C. E.; Cooper, J. A. (2009). "Distinct Roles for CARMIL Isoforms in Cell Migration". Molecular Biology of the Cell. 20 (24): 5290–5305. doi:10.1091/mbc.E08-10-1071. PMC 2793302. PMID 19846667.
• Gunjaca, G.; Boban, M.; Pehlić, M.; Zemunik, T.; Budimir, D.; Kolcić, I.; Lauc, G.; Rudan, I.; Polasek, O. (2010). "Predictive Value of 8 Genetic Loci for Serum Uric Acid Concentration". Croatian Medical Journal. 51 (1): 23–31. doi:10.3325/cmj.2010.51.23. PMC 2829178. PMID 20162742.