Identity
HGNC
LOCATION
6p22.2
LOCUSID
ALIAS
CARMIL,CARMIL1a,LRRC16,LRRC16A,dJ501N12.1,dJ501N12.5
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55604
MIM: 609593
HGNC: 21581
Ensembl: ENSG00000079691
Variants:
dbSNP: 55604
ClinVar: 55604
TCGA: ENSG00000079691
COSMIC: CARMIL1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000079691 | ENST00000329474 | Q5VZK9 |
| ENSG00000079691 | ENST00000461945 | A0A0U1RR91 |
| ENSG00000079691 | ENST00000635618 | A0A0U1RQQ1 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Hemostasis | REACTOME | R-HSA-109582 |
| Factors involved in megakaryocyte development and platelet production | REACTOME | R-HSA-983231 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38739978 | 2024 | CARMIL1 regulates liver cancer cell proliferation by activating the ERK/mTOR pathway through the TRIM27/p53 axis. | 0 |
| 38739978 | 2024 | CARMIL1 regulates liver cancer cell proliferation by activating the ERK/mTOR pathway through the TRIM27/p53 axis. | 0 |
| 32610117 | 2020 | The Leucine-Rich Repeat Region of CARMIL1 Regulates IL-1-Mediated ERK Activation, MMP Expression, and Collagen Degradation. | 8 |
| 32610117 | 2020 | The Leucine-Rich Repeat Region of CARMIL1 Regulates IL-1-Mediated ERK Activation, MMP Expression, and Collagen Degradation. | 8 |
| 29479355 | 2018 | Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency. | 28 |
| 29847807 | 2018 | Allosteric Coupling of CARMIL and V-1 Binding to Capping Protein Revealed by Hydrogen-Deuterium Exchange. | 14 |
| 29479355 | 2018 | Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency. | 28 |
| 29847807 | 2018 | Allosteric Coupling of CARMIL and V-1 Binding to Capping Protein Revealed by Hydrogen-Deuterium Exchange. | 14 |
| 27768389 | 2017 | A Missense Genetic Variant in LRRC16A/CARMIL1 Improves Acute Respiratory Distress Syndrome Survival by Attenuating Platelet Count Decline. | 25 |
| 27768389 | 2017 | A Missense Genetic Variant in LRRC16A/CARMIL1 Improves Acute Respiratory Distress Syndrome Survival by Attenuating Platelet Count Decline. | 25 |
| 25254322 | 2015 | Platelet count mediates the contribution of a genetic variant in LRRC16A to ARDS risk. | 31 |
| 25254322 | 2015 | Platelet count mediates the contribution of a genetic variant in LRRC16A to ARDS risk. | 31 |
| 24318514 | 2014 | Common variant of leucine-rich repeat-containing 16A (LRRC16A) gene is associated with gout susceptibility. | 23 |
| 24318514 | 2014 | Common variant of leucine-rich repeat-containing 16A (LRRC16A) gene is associated with gout susceptibility. | 23 |
| 23904264 | 2013 | Physiological role of the interaction between CARMIL1 and capping protein. | 21 |
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-(capping-protein-regulator-and-myosin-1-linker-1)
