Aliases for CARMIL1 Gene

Aliases for CARMIL1 Gene

  • Capping Protein Regulator And Myosin 1 Linker 1 2 3 5
  • CARMIL 2 3 4
  • Capping Protein Regulator And Myosin 1 Linker Protein 1 3 4
  • Capping Protein, Arp2/3 And Myosin-I Linker Homolog 1 3 4
  • Capping Protein, Arp2/3 And Myosin-I Linker Protein 1 3 4
  • Leucine-Rich Repeat-Containing Protein 16A 3 4
  • Leucine Rich Repeat Containing 16A 2 3
  • Leucine Rich Repeat Containing 16 2 3
  • F-Actin-Uncapping Protein LRRC16A 3 4
  • CARMIL Homolog 3 4
  • DJ501N12.1 2 3
  • LRRC16A 3 4
  • LRRC16 3 4
  • Capping Protein, Arp2/3, And Myosin-I Linker Homolog 1 (Dictyostelium) 2
  • Capping Protein, Arp2/3, And Myosin-I Linker Homolog 1 3
  • Testicular Tissue Protein Li 107 3
  • DJ501N12.5 3
  • CARMIL1a 3
  • FLJ20048 2
  • CARMIL1 5

External Ids for CARMIL1 Gene

Previous HGNC Symbols for CARMIL1 Gene

  • LRRC16
  • LRRC16A

Previous GeneCards Identifiers for CARMIL1 Gene

  • GC06P025287
  • GC06P025291
  • GC06P025296
  • GC06P025305
  • GC06P025282
  • GC06P025284
  • GC06P025309

Summaries for CARMIL1 Gene

GeneCards Summary for CARMIL1 Gene

CARMIL1 (Capping Protein Regulator And Myosin 1 Linker 1) is a Protein Coding gene. Diseases associated with CARMIL1 include Gout and Olecranon Bursitis. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Factors involved in megakaryocyte development and platelet production. An important paralog of this gene is CARMIL3.

UniProtKB/Swiss-Prot Summary for CARMIL1 Gene

  • 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, and hence generates uncapped barbed ends and enhances actin polymerization, however, seems unable to nucleate filaments (PubMed:16054028). Plays a role in lamellipodial protrusion formations and cell migration (PubMed:19846667).

Gene Wiki entry for CARMIL1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CARMIL1 Gene

Genomics for CARMIL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CARMIL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CARMIL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CARMIL1

Genomic Locations for CARMIL1 Gene

Latest Assembly
chr6:25,279,078-25,620,530
(GRCh38/hg38)
Size:
341,453 bases
Orientation:
Plus strand

Previous Assembly
chr6:25,279,602-25,620,758
(GRCh37/hg19 by Entrez Gene)
Size:
341,157 bases
Orientation:
Plus strand

chr6:25,279,306-25,620,758
(GRCh37/hg19 by Ensembl)
Size:
341,453 bases
Orientation:
Plus strand

Genomic View for CARMIL1 Gene

Genes around CARMIL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CARMIL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CARMIL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CARMIL1 Gene

Proteins for CARMIL1 Gene

  • Protein details for CARMIL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VZK9-CARL1_HUMAN
    Recommended name:
    F-actin-uncapping protein LRRC16A
    Protein Accession:
    Q5VZK9
    Secondary Accessions:
    • B8X1J0
    • Q6ZUH5
    • Q6ZW07
    • Q9NXU7

    Protein attributes for CARMIL1 Gene

    Size:
    1371 amino acids
    Molecular mass:
    151557 Da
    Quaternary structure:
    • Homodimer (PubMed:19846667). Interacts (via C-terminus) with heterodimer capping protein (CP); this interaction uncaps barbed ends capped by CP, enhances barbed-end actin polymerization and promotes lamellipodial formation and cell migration (By similarity). Interacts with heterodimer capping protein (CP) (PubMed:19846667). Interacts with MYO1E (PubMed:19846667). Interacts with TRIO (PubMed:19846667).
    SequenceCaution:
    • Sequence=BAA90912.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CARMIL1 Gene

    Alternative splice isoforms for CARMIL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CARMIL1 Gene

Post-translational modifications for CARMIL1 Gene

  • Ubiquitination at Lys116
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CARMIL1 Gene

Domains & Families for CARMIL1 Gene

Gene Families for CARMIL1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CARMIL1 Gene

Suggested Antigen Peptide Sequences for CARMIL1 Gene

GenScript: Design optimal peptide antigens:
  • LRRC16A protein (B2RTQ5_HUMAN)
  • CARMIL1a (B8X1J0_HUMAN)
  • CARMIL homolog (LR16A_HUMAN)
  • LRRC16A protein (Q8IW66_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5VZK9

UniProtKB/Swiss-Prot:

CARL1_HUMAN :
  • The C-terminus is necessary for localization to the cell membrane (PubMed:26578515).
  • Belongs to the CARMIL family.
Domain:
  • The C-terminus is necessary for localization to the cell membrane (PubMed:26578515).
Family:
  • Belongs to the CARMIL family.
genes like me logo Genes that share domains with CARMIL1: view

Function for CARMIL1 Gene

Molecular function for CARMIL1 Gene

UniProtKB/Swiss-Prot 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, and hence generates uncapped barbed ends and enhances actin polymerization, however, seems unable to nucleate filaments (PubMed:16054028). Plays a role in lamellipodial protrusion formations and cell migration (PubMed:19846667).

Phenotypes From GWAS Catalog for CARMIL1 Gene

Gene Ontology (GO) - Molecular Function for CARMIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19846667
GO:0044877 protein-containing complex binding IEA,IDA 16054028
genes like me logo Genes that share ontologies with CARMIL1: view

Phenotypes for CARMIL1 Gene

genes like me logo Genes that share phenotypes with CARMIL1: view

Animal Models for CARMIL1 Gene

MGI Knock Outs for CARMIL1:

miRNA for CARMIL1 Gene

miRTarBase miRNAs that target CARMIL1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CARMIL1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CARMIL1 Gene

Localization for CARMIL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CARMIL1 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cell membrane. Cell projection, lamellipodium. Note=Found on macropinosomes (PubMed:19846667). Colocalized with heterodimeric capping protein (CP) and F-actin in lamellipodia but not with F-actin in stress fibers (PubMed:19846667). {ECO:0000269 PubMed:19846667}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CARMIL1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
endosome 5
cytosol 5
extracellular 4
cytoskeleton 4

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CARMIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA,IDA 26578515
genes like me logo Genes that share ontologies with CARMIL1: view

Pathways & Interactions for CARMIL1 Gene

genes like me logo Genes that share pathways with CARMIL1: view

Pathways by source for CARMIL1 Gene

Gene Ontology (GO) - Biological Process for CARMIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007015 actin filament organization NAS 19846667
GO:0007596 blood coagulation TAS --
GO:0016477 cell migration IMP 19846667
GO:0030032 lamellipodium assembly IMP 19846667
GO:0030335 positive regulation of cell migration IEA,IMP 16054028
genes like me logo Genes that share ontologies with CARMIL1: view

No data available for SIGNOR curated interactions for CARMIL1 Gene

Drugs & Compounds for CARMIL1 Gene

No Compound Related Data Available

Transcripts for CARMIL1 Gene

mRNA/cDNA for CARMIL1 Gene

2 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CARMIL1

Alternative Splicing Database (ASD) splice patterns (SP) for CARMIL1 Gene

No ASD Table

Relevant External Links for CARMIL1 Gene

GeneLoc Exon Structure for
CARMIL1

Expression for CARMIL1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CARMIL1

mRNA Expression by UniProt/SwissProt for CARMIL1 Gene:

Q5VZK9-CARL1_HUMAN
Tissue specificity: Expressed in lung, placenta, small intestine, liver, thymus, colon, skeletal muscle, heart and brain. Higher expression in kidney.

Evidence on tissue expression from TISSUES for CARMIL1 Gene

  • Intestine(4.3)
  • Liver(4.3)
  • Kidney(2.2)
  • Nervous system(2.1)

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CARMIL1 Gene

Orthologs for CARMIL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CARMIL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LRRC16A 30 31
  • 99.61 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LRRC16A 30 31
  • 90.53 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LRRC16A 30 31
  • 90.1 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lrrc16a 30
  • 85.03 (n)
Oppossum
(Monodelphis domestica)
Mammalia LRRC16A 31
  • 85 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Lrrc16a 30 31
  • 84.66 (n)
OneToOne
Carmil1 17
Platypus
(Ornithorhynchus anatinus)
Mammalia LRRC16A 31
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LRRC16A 30 31
  • 79.41 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LRRC16A 31
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lrrc16a 30
  • 77.76 (n)
Str.17185 30
Zebrafish
(Danio rerio)
Actinopterygii LRRC16A 31
  • 66 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG1399 30 31
  • 49.16 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004841 30
  • 49.03 (n)
Worm
(Caenorhabditis elegans)
Secernentea crml-1 31
  • 23 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 51 (a)
ManyToMany
Species where no ortholog for CARMIL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CARMIL1 Gene

ENSEMBL:
Gene Tree for CARMIL1 (if available)
TreeFam:
Gene Tree for CARMIL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CARMIL1: view image

Paralogs for CARMIL1 Gene

Paralogs for CARMIL1 Gene

genes like me logo Genes that share paralogs with CARMIL1: view

Variants for CARMIL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CARMIL1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs12207840 - p.Pro545Leu
rs7454756 - p.Ala639Gly
rs9358856 - p.Val77Ile
rs9885914 - p.Asn1117Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CARMIL1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CARMIL1 Gene

Variant ID Type Subtype PubMed ID
dgv10331n54 CNV loss 21841781
dgv3291n106 CNV deletion 24896259
esv1982720 CNV deletion 18987734
esv24399 CNV loss 19812545
esv26089 CNV gain 19812545
esv2676638 CNV deletion 23128226
esv2731721 CNV deletion 23290073
esv2731722 CNV deletion 23290073
esv2731723 CNV deletion 23290073
esv275059 CNV loss 21479260
esv27920 CNV gain 19812545
esv27936 CNV loss 19812545
esv3306929 CNV mobile element insertion 20981092
esv3384108 CNV insertion 20981092
esv3421950 CNV insertion 20981092
esv3567441 CNV deletion 23714750
esv3567442 CNV deletion 23714750
esv3608383 CNV loss 21293372
esv3608384 CNV loss 21293372
esv3890801 CNV gain 25118596
esv7524 CNV gain 19470904
esv8827 CNV gain 19470904
nsv1025694 CNV gain 25217958
nsv1074918 CNV deletion 25765185
nsv1137069 CNV deletion 24896259
nsv349286 CNV deletion 16902084
nsv601168 CNV loss 21841781
nsv601171 CNV loss 21841781
nsv601172 CNV loss 21841781
nsv819937 CNV loss 19587683
nsv823458 CNV gain 20364138
nsv830612 CNV gain 17160897

Variation tolerance for CARMIL1 Gene

Residual Variation Intolerance Score: 53.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.15; 61.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CARMIL1 Gene

Human Gene Mutation Database (HGMD)
CARMIL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CARMIL1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CARMIL1 Gene

Disorders for CARMIL1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CARMIL1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
gout
  • articular gout
olecranon bursitis
  • bursitis of elbow
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CARMIL1

genes like me logo Genes that share disorders with CARMIL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CARMIL1 Gene

Publications for CARMIL1 Gene

  1. Distinct roles for CARMIL isoforms in cell migration. (PMID: 19846667) Liang Y … Cooper JA (Molecular biology of the cell 2009) 2 3 4
  2. Cell Migration and Invadopodia Formation Require a Membrane-binding Domain of CARMIL2. (PMID: 26578515) Lanier MH … Cooper JA (The Journal of biological chemistry 2016) 3 4
  3. Mammalian CARMIL inhibits actin filament capping by capping protein. (PMID: 16054028) Yang C … Zigmond SH (Developmental cell 2005) 3 4
  4. Extensive rewiring of the EGFR network in colorectal cancer cells expressing transforming levels of KRASG13D. (PMID: 31980649) Kennedy SA … Kolch W (Nature communications 2020) 3
  5. PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling. (PMID: 31091453) Shami Shah A … Baskin JM (Cell reports 2019) 3

Products for CARMIL1 Gene

Sources for CARMIL1 Gene