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Aliases for CARMIL1 Gene

Aliases for CARMIL1 Gene

  • Capping Protein Regulator And Myosin 1 Linker 1 2 3 5
  • 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
  • CARMIL Homolog 3 4
  • LRRC16A 3 4
  • LRRC16 3 4
  • CARMIL 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
  • F-Actin-Uncapping Protein LRRC16A 3
  • Testicular Tissue Protein Li 107 3
  • DJ501N12.1 3
  • DJ501N12.5 3
  • CARMIL1a 3

External Ids for CARMIL1 Gene

Previous HGNC Symbols for CARMIL1 Gene

  • LRRC16
  • LRRC16A

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 Nephrolithiasis, Uric Acid and Gout. 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 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 , fRNAdb sequence ontologies and piRNA Summary for CARMIL1 Gene

Genomics for CARMIL1 Gene

Regulatory Elements for CARMIL1 Gene

Enhancers for CARMIL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G025403 1.6 FANTOM5 Ensembl ENCODE dbSUPER 19.5 +126.9 126908 5.5 HDGF PKNOX1 BACH1 POLR2A EED SCRT2 ETV6 RELB IKZF2 CREM CARMIL1 GC06P025409 RNU6-987P
GH06G025302 1.3 Ensembl ENCODE dbSUPER 18.9 +24.2 24154 2.1 PKNOX1 ZBTB21 INSM2 FEZF1 GLI2 SCRT2 PRDM10 ZNF600 ZBTB20 SCRT1 CARMIL1 GC06P025297 GC06M025316
GH06G025310 1.3 Ensembl ENCODE dbSUPER 18.6 +33.2 33249 2.8 CTCF KLF1 MXI1 JUN MAX ZNF384 RAD21 ZNF335 SMC3 RCOR1 CARMIL1 GC06M025316 GC06P025297
GH06G025365 1.3 Ensembl ENCODE dbSUPER 16.3 +89.3 89331 4.8 HDGF ATF1 ZNF366 ZSCAN5C RELB CREM IKZF2 EGR2 ZNF263 CEBPB CARMIL1 LOC101928663 RPL21P68 GC06P025384 GC06M025334
GH06G025300 0.9 Ensembl ENCODE dbSUPER 19.9 +22.3 22344 1.2 MYC SPI1 CARMIL1 RPL21P68 LOC101928663 GC06P025297 GC06M025316
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CARMIL1 on UCSC Golden Path with GeneCards custom track

Promoters for CARMIL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000194891 722 2401 PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 ZNF207

Genomic Location for CARMIL1 Gene

Chromosome:
6
Start:
25,279,078 bp from pter
End:
25,620,530 bp from pter
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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CARMIL1 Gene

Domains & Families for CARMIL1 Gene

Protein Domains for CARMIL1 Gene

Suggested Antigen Peptide Sequences for CARMIL1 Gene

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

No data available for Gene Families for CARMIL1 Gene

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).

Gene Ontology (GO) - Molecular Function for CARMIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19846667
GO:0032403 protein complex binding IDA 16054028
genes like me logo Genes that share ontologies with CARMIL1: view

Phenotypes for CARMIL1 Gene

MGI mutant phenotypes for CARMIL1:
inferred from 1 alleles
GenomeRNAi human phenotypes for CARMIL1:
genes like me logo Genes that share phenotypes with CARMIL1: view

Animal Models for CARMIL1 Gene

MGI Knock Outs for CARMIL1:

Animal Model Products

CRISPR Products

miRNA for CARMIL1 Gene

miRTarBase miRNAs that target CARMIL1

Inhibitory RNA Products

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=Colocalized with heterodimeric capping protein (CP) and F-actin in lamellipodia but not with F-actin in stress fibers (PubMed:19846667). Colocalized with F-actin in lamellipodia but not with F-actin in stress fibers (PubMed:19846667). Found on macropinosomes (PubMed:19846667). {ECO:0000250 UniProtKB:Q6EDY6, 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
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
endosome 5

Gene Ontology (GO) - Cellular Components for CARMIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus 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

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for CARMIL1 Gene

GeneLoc Exon Structure for
CARMIL1
ECgene alternative splicing isoforms for
CARMIL1

Expression for CARMIL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CARMIL1 Gene:

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(4.2)
  • Liver(4.2)

Primer Products

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 34 35
  • 99.61 (n)
cow
(Bos Taurus)
Mammalia LRRC16A 34 35
  • 90.53 (n)
dog
(Canis familiaris)
Mammalia LRRC16A 34 35
  • 90.1 (n)
rat
(Rattus norvegicus)
Mammalia Lrrc16a 34
  • 85.03 (n)
oppossum
(Monodelphis domestica)
Mammalia LRRC16A 35
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lrrc16a 34 35
  • 84.66 (n)
Carmil1 16
platypus
(Ornithorhynchus anatinus)
Mammalia LRRC16A 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRRC16A 34 35
  • 79.41 (n)
lizard
(Anolis carolinensis)
Reptilia LRRC16A 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrc16a 34
  • 77.76 (n)
Str.17185 34
zebrafish
(Danio rerio)
Actinopterygii LRRC16A 35
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1399 34 35
  • 49.16 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004841 34
  • 49.03 (n)
worm
(Caenorhabditis elegans)
Secernentea crml-1 35
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 51 (a)
ManyToMany
Species where no ortholog for CARMIL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

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 from dbSNP and Humsavar for CARMIL1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000007408 -- 25,319,171(+) TGTCG(A/G)GTAAA intron-variant
rs1000020797 -- 25,371,522(+) TGAAC(A/G)TTGTT intron-variant
rs1000023830 -- 25,348,689(+) AGGCA(G/T)GAGAA intron-variant
rs1000085642 -- 25,391,493(+) TCTAG(A/G)TGGTA intron-variant
rs1000086075 -- 25,434,001(+) AGTAA(C/G)AACAG intron-variant

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)

Relevant External Links for CARMIL1 Gene

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

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: DISEASES and GeneCards

Disorder Aliases PubMed IDs
nephrolithiasis, uric acid
  • acute urate nephropathy
gout
  • articular gout
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CARMIL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CARMIL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 J.A. (Mol. Biol. Cell 2009) 2 3 4 64
  2. Cell Migration and Invadopodia Formation Require a Membrane-binding Domain of CARMIL2. (PMID: 26578515) Lanier M.H. … Cooper J.A. (J. Biol. Chem. 2016) 3 4 64
  3. Mammalian CARMIL inhibits actin filament capping by capping protein. (PMID: 16054028) Yang C. … Zigmond S.H. (Dev. Cell 2005) 3 4 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3 64

Products for CARMIL1 Gene

Sources for CARMIL1 Gene

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