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CARMIL1 (capping protein regulator and myosin 1 linker 1)

Identity

Alias_namesLRRC16
LRRC16A
leucine rich repeat containing 16
leucine rich repeat containing 16A
Alias_symbol (synonym)dJ501N12.1
FLJ20048
CARMIL
Other aliasCARMIL1a
dJ501N12.5
HGNC (Hugo) CARMIL1
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)
EnsemblCARMIL1 - 6p22.2 [CytoView hg19]  CARMIL1 - 6p22.2 [CytoView hg38]
Mapping of homologs : NCBICARMIL1 [Mapview hg19]  CARMIL1 [Mapview hg38]
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
Cluster EST : UnigeneHs.649550 [ NCBI ]
CGAP (NCI)Hs.649550
Alternative Splicing GalleryENSG00000079691
Gene ExpressionCARMIL1 [ NCBI-GEO ]   CARMIL1 [ EBI - ARRAY_EXPRESS ]   CARMIL1 [ SEEK ]   CARMIL1 [ MEM ]
Gene Expression Viewer (FireBrowse)CARMIL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression 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    L_dom-like    Leu-rich_rpt   
Domain families : Pfam (Sanger)CARMIL_C (PF16000)    LRR_6 (PF13516)   
Domain families : Pfam (NCBI)pfam16000    pfam13516   
Conserved Domain (NCBI)CARMIL1
DMDM Disease mutations55604
Blocks (Seattle)CARMIL1
PDB (SRS)3LK2    3LK3   
PDB (PDBSum)3LK2    3LK3   
PDB (IMB)3LK2    3LK3   
PDB (RSDB)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 : AmiGO###############################################################################################################################################################################################################################################################  
Ontology : EGO-EBI###############################################################################################################################################################################################################################################################  
NDEx NetworkCARMIL1
Atlas of Cancer Signalling NetworkCARMIL1
Wikipedia pathwaysCARMIL1
Orthology - Evolution
OrthoDB55604
GeneTree (enSembl)ENSG00000079691
Phylogenetic Trees/Animal Genes : TreeFamCARMIL1
HOVERGENQ5VZK9
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
ExAC (Exome Aggregation Consortium)ENSG00000079691
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]
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
Chemical/Protein Interactions : CTD55604
Chemical/Pharm GKB GenePA162394368
Clinical trialCARMIL1
Miscellaneous
canSAR (ICR)CARMIL1 (select the gene name)
Probes
Litterature
PubMed1 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCARMIL1
EVEXCARMIL1
GoPubMedCARMIL1
iHOPCARMIL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jul 30 13:39:15 CEST 2018

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