CARMIL1 (capping protein regulator and myosin 1 linker 1)

Gene

• Entrez ID: 55604
• Gene name: Capping protein regulator and myosin 1 linker 1
• Gene symbol: CARMIL1
• Synonyms (NCBI Gene): CARMIL, CARMIL1a, LRRC16, LRRC16A, dJ501N12.1, dJ501N12.5
• Chromosome: 6
• Chromosome location: 6p22.2

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19846667
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	26578515
GO:0005886	Component	Plasma membrane	IEA
GO:0007015	Process	Actin filament organization	NAS	19846667
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IBA
GO:0016477	Process	Cell migration	IMP	19846667
GO:0016607	Component	Nuclear speck	IDA
GO:0030027	Component	Lamellipodium	IBA
GO:0030027	Component	Lamellipodium	IDA	19846667
GO:0030027	Component	Lamellipodium	IEA
GO:0030032	Process	Lamellipodium assembly	IMP	19846667
GO:0030335	Process	Positive regulation of cell migration	IDA	19846667
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0030335	Process	Positive regulation of cell migration	IMP	16054028
GO:0030838	Process	Positive regulation of actin filament polymerization	IEA
GO:0030838	Process	Positive regulation of actin filament polymerization	ISS
GO:0031252	Component	Cell leading edge	IDA	19846667
GO:0031529	Process	Ruffle organization	IMP	19846667
GO:0031941	Component	Filamentous actin	IEA
GO:0031941	Component	Filamentous actin	ISS
GO:0034315	Process	Regulation of Arp2/3 complex-mediated actin nucleation	IBA
GO:0042995	Component	Cell projection	IEA
GO:0044351	Process	Macropinocytosis	IDA	19846667
GO:0044354	Component	Macropinosome	IDA	19846667
GO:0044877	Function	Protein-containing complex binding	IDA	16054028
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0046415	Process	Urate metabolic process	IMP	19503597, 24318514
GO:0051496	Process	Positive regulation of stress fiber assembly	IEA
GO:0051496	Process	Positive regulation of stress fiber assembly	IMP	16054028
GO:0051638	Process	Barbed-end actin filament uncapping	IEA
GO:0051638	Process	Barbed-end actin filament uncapping	ISS
GO:0051639	Process	Actin filament network formation	IDA	19846667
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:1900026	Process	Positive regulation of substrate adhesion-dependent cell spreading	IEA
GO:1900026	Process	Positive regulation of substrate adhesion-dependent cell spreading	IMP	16054028
GO:1902745	Process	Positive regulation of lamellipodium organization	IDA	16054028
GO:1902745	Process	Positive regulation of lamellipodium organization	IEA
GO:2000813	Process	Negative regulation of barbed-end actin filament capping	IEA
GO:2000813	Process	Negative regulation of barbed-end actin filament capping	ISS

Other IDs

• MIM: 609593
• HGNC: 21581
• e!Ensembl: ENSG00000079691

Protein

• UniProt ID: Q5VZK9
• Protein name: F-actin-uncapping protein LRRC16A (CARMIL homolog) (Capping protein regulator and myosin 1 linker protein 1) (Capping protein, Arp2/3 and myosin-I linker homolog 1) (Capping protein, Arp2/3 and myosin-I linker protein 1) (Leucine-rich repeat-containing pr
• Protein function: Cell membrane-cytoskeleton-associated protein that plays a role in the regulation of actin polymerization at the barbed end of actin filaments. Prevents F-actin heterodimeric capping protein (CP) activity at the leading edges of migrating cells,
• PDB: 3LK2, 3LK3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17888	Carm_PH	26 → 119	Carmil pleckstrin homology domain	Domain
  PF13516	LRR_6	274 → 297	Leucine Rich repeat	Repeat
  PF13516	LRR_6	569 → 592	Leucine Rich repeat	Repeat
  PF16000	CARMIL_C	786 → 1081	CARMIL C-terminus	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in lung, placenta, small intestine, liver, thymus, colon, skeletal muscle, heart and brain. Higher expression in kidney. {ECO:0000269|PubMed:16054028}.
• Sequence:

  MTEESSDVPRELIESIKDVIGRKIKISVKKKVKLEVKGDKVENKVLVLTSCRAFLVTARI
  PTKLELTFSYLEIHGVVCSKSAQMIVETEKCSISMKMASPEDVSEVLAHIGTCLRKIFPG
  LSPVRIMKKVSMEPSERLASLQALWDSQTVAEQGPCGGFSQMYACVCDWLGFSYREEVQW
  DVDTIYLTQDTRELNLQDFSHLDHRDLIPIIAALEYNQWFTKLSSKDLKLSTDVCEQILR
  VVSRSNRLEELVLENAGLRTDFAQKLASALAHNPNSGLHTINLAGNPLEDRGVSSLSIQF
  AKLPKGLKHLNLSKTSLSPKGVNSLSQSLSANPLTASTLVHLDLSGNVLRGDDLSHMYNF
  LAQPNAIVHLDLSNTECSLDMVCGALLRGCLQYLAVLNLSRTVFSHRKGKEVPPSFKQFF
  SSSLALMHINLSGTKLSPEPLKALLLGLACNHNLKGVSLDLSNCELRSGGAQVLEGCIAE
  IHNITSLDISDNGLESDLSTLIVWLSKNRSIQHLALGKNFNNMKSKNLTPVLDNLVQMIQ
  DEESPLQSLSLADSKLKTEVTIIINALGSNTSLTKVDISGNGMGDMGAKMLAKALQINTK
  LRTVIWDKNNITAQGFQDIAVAMEKNYTLRFMPIPMYDASQALKTNPEKTEDALQKIENY
  LLRNHETRKYLQEQAYRLQQGIVTSTTQQMIDRICVKVQDHLNSLRNCGGDAIQEDLKSA
  ERLMRDAKNSKTLLPNLYHVGGASWAGASGLLSSPIQETLESMAGEVTRVVDEQLKALLE
  SMVDAAENLCPNVMKKAHIRQDLIHASTEKISIPRTFVKNVLLEQSGIDILNKISEVKLT
  VASFLSDRIVDEILDALSHCHHKLADHFSRRGKTLPQQESLEIELAEEKPVKRSIITVEE
  LTEIERLEDLDTCMMTPKSKRKSIHSRMLRPVSRAFEMEFDLDKALEEVPIHIEDPPFPS
  LRQEKRSSGFISELPSEEGKKLEHFTKLRPKRNKKQQPTQAAVCAANIVSQDGEQNGLMG
  RVDEGVDEFFTKKVTKMDSKKWSTRGSESHELNEGGDEKKKRDSRKSSGFLNLIKSRSKS
  ERPPTILMTEEPSSPKGAVRSPPVDCPRKDTKAAEHNGNSERIEEIKTPDSFEESQGEEI
  GKVERSDSKSSPQAGRRYGVQVMGSGLLAEMKAKQEKRAACAQKKLGNDAVSQDSSSPAL
  SGVERSDGGGAVPKLHPGLPENRFGLGTPEKNTKAEPKAEAGSRSRSSSSTPTSPKPLLQ
  SPKPSLAARPVIPQKPRTASRPDDIPDSPSSPKVALLPPVLKKVPSDKERDGQSSPQPSP
  RTFSQEVSRRSWGQQAQEYQEQKQRSSSKDGHQGSKSNDSGEEAEKEFIFV

• Sequence length: 1371

Pathways

Reactome:

Factors involved in megakaryocyte development and platelet production

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRON METABOLISM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOCUTANEOUS LYMPH NODE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural hearing loss disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anorexia Nervosa	Anorexia	GWASCAT_DG	30087453		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis, Gouty	Gouty arthritis	GWASDB_DG	20884846, 23263486		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GWASDB_DG	22306652		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21971053		★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	25254322	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	GWASCAT_DG	31451708		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	GWASCAT_DG	31451708		★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASDB_DG	20884846, 23263486		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gout	Gout	Pubtator	21283782, 24318514, 26290326	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss	Hearing loss	Pubtator	33713422	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	21283782		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	28714469		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	21283782		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	Pubtator	21283782	Associate	★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	GWASCAT_DG	30087453		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	27768389		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764, 28540026, 30285260, 31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma	Scleroderma	BEFREE	30755532		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	30755532		★☆☆☆☆ Found in Text Mining only