CARMIL1 (capping protein regulator and myosin 1 linker 1)

2001-01-01  

Identity

HGNC
LOCATION
6p22.2
LOCUSID
ALIAS
CARMIL,CARMIL1a,LRRC16,LRRC16A,dJ501N12.1,dJ501N12.5

Other Information

Locus ID:

NCBI: 55604
MIM: 609593
HGNC: 21581
Ensembl: ENSG00000079691

Variants:

dbSNP: 55604
ClinVar: 55604
TCGA: ENSG00000079691
COSMIC: CARMIL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000079691ENST00000329474Q5VZK9
ENSG00000079691ENST00000461945A0A0U1RR91
ENSG00000079691ENST00000635618A0A0U1RQQ1

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
195035972009Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.228
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
198903912009Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease.34
198614892010Replication of the five novel loci for uric acid concentrations and potential mediating mechanisms.33
198466672009Distinct roles for CARMIL isoforms in cell migration.32
252543222015Platelet count mediates the contribution of a genetic variant in LRRC16A to ARDS risk.20
243185142014Common variant of leucine-rich repeat-containing 16A (LRRC16A) gene is associated with gout susceptibility.17
224119882012Mechanism for CARMIL protein inhibition of heterodimeric actin-capping protein.16
277683892017A Missense Genetic Variant in LRRC16A/CARMIL1 Improves Acute Respiratory Distress Syndrome Survival by Attenuating Platelet Count Decline.16
239042642013Physiological role of the interaction between CARMIL1 and capping protein.13

Citation

Dessen P

CARMIL1 (capping protein regulator and myosin 1 linker 1)

Atlas Genet Cytogenet Oncol Haematol. 2001-01-01

Online version: http://atlasgeneticsoncology.org/gene/78370/carmil1