CARMIL1 - capping protein regulator and myosin 1 linker 1 Gene

Homo sapiens

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

Gene ID: 55604 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01929	CARMIL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.