Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CARMIL1 (capping protein regulator and myosin 1 linker 1)

Identity

Alias (NCBI)CARMIL
CARMIL1a
LRRC16
LRRC16A
dJ501N12.1
dJ501N12.5
HGNC (Hugo) CARMIL1
HGNC Alias symbdJ501N12.1
FLJ20048
CARMIL
HGNC Alias namecapping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)
HGNC Previous nameLRRC16
 LRRC16A
HGNC Previous nameleucine rich repeat containing 16
 leucine rich repeat containing 16A
LocusID (NCBI) 55604
Atlas_Id 78370
Location 6p22.2  [Link to chromosome band 6p22]
Location_base_pair Starts at 25279428 and ends at 25620530 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CARMIL1   21581
Cards
Entrez_Gene (NCBI)CARMIL1  55604  capping protein regulator and myosin 1 linker 1
AliasesCARMIL; CARMIL1a; LRRC16; LRRC16A; 
dJ501N12.1; dJ501N12.5
GeneCards (Weizmann)CARMIL1
Ensembl hg19 (Hinxton)ENSG00000079691 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000079691 [Gene_View]  ENSG00000079691 [Sequence]  chr6:25279428-25620530 [Contig_View]  CARMIL1 [Vega]
ICGC DataPortalENSG00000079691
TCGA cBioPortalCARMIL1
AceView (NCBI)CARMIL1
Genatlas (Paris)CARMIL1
WikiGenes55604
SOURCE (Princeton)CARMIL1
Genetics Home Reference (NIH)CARMIL1
Genomic and cartography
GoldenPath hg38 (UCSC)CARMIL1  -     chr6:25279428-25620530 +  6p22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CARMIL1  -     6p22.2   [Description]    (hg19-Feb_2009)
GoldenPathCARMIL1 - 6p22.2 [CytoView hg19]  CARMIL1 - 6p22.2 [CytoView hg38]
ImmunoBaseENSG00000079691
genome Data Viewer NCBICARMIL1 [Mapview hg19]  
OMIM609593   
Gene and transcription
Genbank (Entrez)AI142012 AK000055 AK123817 AK125696 AK225208
RefSeq transcript (Entrez)NM_001173977 NM_017640
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CARMIL1
Alternative Splicing GalleryENSG00000079691
Gene ExpressionCARMIL1 [ NCBI-GEO ]   CARMIL1 [ EBI - ARRAY_EXPRESS ]   CARMIL1 [ SEEK ]   CARMIL1 [ MEM ]
Gene Expression Viewer (FireBrowse)CARMIL1 [ Firebrowse - Broad ]
GenevisibleExpression of CARMIL1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55604
GTEX Portal (Tissue expression)CARMIL1
Human Protein AtlasENSG00000079691-CARMIL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5VZK9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5VZK9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5VZK9
Splice isoforms : SwissVarQ5VZK9
PhosPhoSitePlusQ5VZK9
Domains : Interpro (EBI)CARMIL1    CARMIL_C    CARMIL_PH    Leu-rich_rpt    LRR_dom_sf    PH-like_dom_sf   
Domain families : Pfam (Sanger)Carm_PH (PF17888)    CARMIL_C (PF16000)    LRR_6 (PF13516)   
Domain families : Pfam (NCBI)pfam17888    pfam16000    pfam13516   
Conserved Domain (NCBI)CARMIL1
DMDM Disease mutations55604
Blocks (Seattle)CARMIL1
PDB (RSDB)3LK2    3LK3   
PDB Europe3LK2    3LK3   
PDB (PDBSum)3LK2    3LK3   
PDB (IMB)3LK2    3LK3   
Structural Biology KnowledgeBase3LK2    3LK3   
SCOP (Structural Classification of Proteins)3LK2    3LK3   
CATH (Classification of proteins structures)3LK2    3LK3   
SuperfamilyQ5VZK9
Human Protein Atlas [tissue]ENSG00000079691-CARMIL1 [tissue]
Peptide AtlasQ5VZK9
HPRD11285
IPIIPI00014843   IPI00873593   IPI00446337   IPI00748746   IPI00887902   
Protein Interaction databases
DIP (DOE-UCLA)Q5VZK9
IntAct (EBI)Q5VZK9
FunCoupENSG00000079691
BioGRIDCARMIL1
STRING (EMBL)CARMIL1
ZODIACCARMIL1
Ontologies - Pathways
QuickGOQ5VZK9
Ontology : AmiGOprotein binding  nucleoplasm  cytosol  cytosol  plasma membrane  actin filament organization  blood coagulation  cell migration  nuclear speck  lamellipodium  lamellipodium assembly  positive regulation of cell migration  positive regulation of cell migration  positive regulation of actin filament polymerization  cell leading edge  ruffle organization  filamentous actin  macropinocytosis  macropinosome  protein-containing complex binding  urate metabolic process  positive regulation of stress fiber assembly  barbed-end actin filament uncapping  actin filament network formation  extracellular exosome  positive regulation of substrate adhesion-dependent cell spreading  positive regulation of lamellipodium organization  negative regulation of barbed-end actin filament capping  
Ontology : EGO-EBIprotein binding  nucleoplasm  cytosol  cytosol  plasma membrane  actin filament organization  blood coagulation  cell migration  nuclear speck  lamellipodium  lamellipodium assembly  positive regulation of cell migration  positive regulation of cell migration  positive regulation of actin filament polymerization  cell leading edge  ruffle organization  filamentous actin  macropinocytosis  macropinosome  protein-containing complex binding  urate metabolic process  positive regulation of stress fiber assembly  barbed-end actin filament uncapping  actin filament network formation  extracellular exosome  positive regulation of substrate adhesion-dependent cell spreading  positive regulation of lamellipodium organization  negative regulation of barbed-end actin filament capping  
NDEx NetworkCARMIL1
Atlas of Cancer Signalling NetworkCARMIL1
Wikipedia pathwaysCARMIL1
Orthology - Evolution
OrthoDB55604
GeneTree (enSembl)ENSG00000079691
Phylogenetic Trees/Animal Genes : TreeFamCARMIL1
HOGENOMQ5VZK9
Homologs : HomoloGeneCARMIL1
Homology/Alignments : Family Browser (UCSC)CARMIL1
Gene fusions - Rearrangements
Fusion : QuiverCARMIL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCARMIL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CARMIL1
dbVarCARMIL1
ClinVarCARMIL1
1000_GenomesCARMIL1 
Exome Variant ServerCARMIL1
GNOMAD BrowserENSG00000079691
Varsome BrowserCARMIL1
Genetic variants : HAPMAP55604
Genomic Variants (DGV)CARMIL1 [DGVbeta]
DECIPHERCARMIL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCARMIL1 
Mutations
ICGC Data PortalCARMIL1 
TCGA Data PortalCARMIL1 
Broad Tumor PortalCARMIL1
OASIS PortalCARMIL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCARMIL1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCARMIL1
Mutations and Diseases : HGMDCARMIL1
BioMutasearch CARMIL1
DgiDB (Drug Gene Interaction Database)CARMIL1
DoCM (Curated mutations)CARMIL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CARMIL1 (select a term)
intoGenCARMIL1
Cancer3DCARMIL1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609593   
Orphanet
DisGeNETCARMIL1
MedgenCARMIL1
Genetic Testing Registry CARMIL1
NextProtQ5VZK9 [Medical]
TSGene55604
GENETestsCARMIL1
Target ValidationCARMIL1
Huge Navigator CARMIL1 [HugePedia]
snp3D : Map Gene to Disease55604
BioCentury BCIQCARMIL1
ClinGenCARMIL1
Clinical trials, drugs, therapy
Protein Interactions : CTD55604
Pharm GKB GenePA162394368
Clinical trialCARMIL1
Miscellaneous
canSAR (ICR)CARMIL1 (select the gene name)
HarmonizomeCARMIL1
DataMed IndexCARMIL1
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCARMIL1
EVEXCARMIL1
GoPubMedCARMIL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Sat Aug 22 19:07:45 CEST 2020

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