CARMIL1 - capping protein regulator and myosin 1 linker 1 Gene

Also Known as CARMIL; LRRC16; LRRC16A; CARMIL1a; dJ501N12.1; dJ501N12.5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55604

About CARMIL1

Cytogenetic location: 6p22.2 Genomic coordinates (GRCh38): 6:25,279,374-25,620,530 (from NCBI)

This gene has 6 transcripts (splice variants), 268 orthologues and 4 paralogues. Broad expression in testis (RPKM 7.4), small intestine (RPKM 6.3) and 24 other tissues.

Summary

Involved in several processes, including actin filament network formation; plasma membrane bounded cell projection organization; and positive regulation of cellular component organization. Located in several cellular components, including lamellipodium; macropinosome; and nuclear speck. [provided by Alliance of Genome Resources, Apr 2022]

CARMIL1 Products (2)

mRNA	Protein	Name
NM_001173977.2	NP_001167448.1	F-actin-uncapping protein LRRC16A isoform 2
NM_017640.6	NP_060110.4	F-actin-uncapping protein LRRC16A isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19846667	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	16054028	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in actin filament network formation	IDA IDA: Inferred from direct assay	19846667	GOA
involved in cell migration	IMP IMP: Inferred from mutant phenotype	19846667	GOA
involved in lamellipodium assembly	IMP IMP: Inferred from mutant phenotype	19846667	GOA
involved in macropinocytosis	IDA IDA: Inferred from direct assay	19846667	GOA
involved in positive regulation of cell migration	IDA IDA: Inferred from direct assay	19846667	GOA
involved in positive regulation of cell migration	IMP IMP: Inferred from mutant phenotype	16054028	GOA
involved in positive regulation of lamellipodium organization	IDA IDA: Inferred from direct assay	16054028	GOA
involved in positive regulation of stress fiber assembly	IMP IMP: Inferred from mutant phenotype	16054028	GOA
involved in positive regulation of substrate adhesion-dependent cell spreading	IMP IMP: Inferred from mutant phenotype	16054028	GOA
involved in ruffle organization	IMP IMP: Inferred from mutant phenotype	19846667	GOA
involved in urate metabolic process	IMP IMP: Inferred from mutant phenotype	19503597	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cell leading edge	IDA IDA: Inferred from direct assay	19846667	GOA
located in lamellipodium	IDA IDA: Inferred from direct assay	19846667	GOA
located in macropinosome	IDA IDA: Inferred from direct assay	19846667	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	26578515	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CARMIL1 Protein Structure

LRR_6

0
300
600
900
1200
1371 a.a.

Protein Preferred Names	Protein Names
F-actin-uncapping protein LRRC16A	CARMIL homolog

Related Diseases

Diseases	Alias
Gout	Gouty Arthritis Articular Gout Gouty Arthropathy Arthritis, Gouty Arthritis Gouty Idiopathic Gout Idiopathic Gout, Unspecified Site Gouty Bursitis Uratic Arthritis Gout Nos Gouty Gouty Diathesis
Olecranon Bursitis	Bursitis Of Elbow Bursitis Of Elbow Region Capped Elbow Elbow Bursitis Miner'S Elbow Miners' Elbow Shoe Boil
Phosphoribosylpyrophosphate Synthetase Superactivity	PRPS1 SUPERACTIVITY Prpp Synthetase Superactivity Gout, Prps-Related Prpp Synthetase Deficiency Prpp Synthetase Overactivity Prs Overactivity Prs Superactivity Mild Phosphoribosylpyrophosphate Synthetase Superactivity Mild Prpp Synthetase Superactivity Mild Prps1 Superactivity Severe Phosphoribosylpyrophosphate Synthetase Superactivity Severe Prpp Synthetase Superactivity Severe Prps1 Superactivity Prps-Related Gout Superactivity, Phosphoribosylpyrophosphate Synthetase

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS01929	CARMIL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CARMIL1	MGD	MGI:1915982
Canis familiaris	CARMIL1	VGNC	VGNC:38722
Macaca mulatta	CARMIL1	VGNC	VGNC:70602
Bos taurus	CARMIL1	VGNC	VGNC:26768
Rattus norvegicus	CARMIL1	RGD	RGD:1306623
Felis catus	CARMIL1	VGNC	VGNC:60370
Others	CARMIL1	NCBI