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MKLN1 (muskelin 1)

Identity

Alias_namesmuskelin 1
Alias_symbol (synonym)TWA2
Other alias
HGNC (Hugo) MKLN1
LocusID (NCBI) 4289
Atlas_Id 41370
Location 7q32.3  [Link to chromosome band 7q32]
Location_base_pair Starts at 130794855 and ends at 131181398 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CMC1 (3p24.1) / MKLN1 (7q32.3)EDIL3 (5q14.3) / MKLN1 (7q32.3)MKLN1 (7q32.3) / AMTN (4q13.3)
MKLN1 (7q32.3) / IMMP2L (7q31.1)MKLN1 (7q32.3) / MKLN1 (7q32.3)NDFIP2 (13q31.1) / MKLN1 (7q32.3)
TIAM2 (6q25.3) / MKLN1 (7q32.3)MKLN1 7q32.3 / AMTN 4q13.3MKLN1 7q32.3 / IMMP2L 7q31.1

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)MKLN1   7109
Cards
Entrez_Gene (NCBI)MKLN1  4289  muskelin 1
AliasesTWA2
GeneCards (Weizmann)MKLN1
Ensembl hg19 (Hinxton)ENSG00000128585 [Gene_View]  chr7:130794855-131181398 [Contig_View]  MKLN1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000128585 [Gene_View]  chr7:130794855-131181398 [Contig_View]  MKLN1 [Vega]
ICGC DataPortalENSG00000128585
TCGA cBioPortalMKLN1
AceView (NCBI)MKLN1
Genatlas (Paris)MKLN1
WikiGenes4289
SOURCE (Princeton)MKLN1
Genetics Home Reference (NIH)MKLN1
Genomic and cartography
GoldenPath hg19 (UCSC)MKLN1  -     chr7:130794855-131181398 +  7q32.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MKLN1  -     7q32.3   [Description]    (hg38-Dec_2013)
EnsemblMKLN1 - 7q32.3 [CytoView hg19]  MKLN1 - 7q32.3 [CytoView hg38]
Mapping of homologs : NCBIMKLN1 [Mapview hg19]  MKLN1 [Mapview hg38]
OMIM605623   
Gene and transcription
Genbank (Entrez)AA284481 AA451916 AF047489 AF086386 AI928463
RefSeq transcript (Entrez)NM_001145354 NM_001321316 NM_013255
RefSeq genomic (Entrez)NC_000007 NC_018918 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)MKLN1
Cluster EST : UnigeneHs.44693 [ NCBI ]
CGAP (NCI)Hs.44693
Alternative Splicing GalleryENSG00000128585
Gene ExpressionMKLN1 [ NCBI-GEO ]   MKLN1 [ EBI - ARRAY_EXPRESS ]   MKLN1 [ SEEK ]   MKLN1 [ MEM ]
Gene Expression Viewer (FireBrowse)MKLN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4289
GTEX Portal (Tissue expression)MKLN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UL63   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UL63  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UL63
Splice isoforms : SwissVarQ9UL63
PhosPhoSitePlusQ9UL63
Domaine pattern : Prosite (Expaxy)CTLH (PS50897)    LISH (PS50896)   
Domains : Interpro (EBI)CTLH_C    Gal_Oxase/kelch_b-propeller    Galactose-bd-like    Kelch-typ_b-propeller    Kelch_1    LisH    Muskelin_N   
Domain families : Pfam (Sanger)Kelch_1 (PF01344)    Muskelin_N (PF06588)   
Domain families : Pfam (NCBI)pfam01344    pfam06588   
Domain families : Smart (EMBL)LisH (SM00667)  
Conserved Domain (NCBI)MKLN1
DMDM Disease mutations4289
Blocks (Seattle)MKLN1
SuperfamilyQ9UL63
Human Protein AtlasENSG00000128585
Peptide AtlasQ9UL63
HPRD16129
IPIIPI00297045   IPI00783648   IPI00815995   IPI00926744   IPI00924849   IPI00925287   IPI00924627   
Protein Interaction databases
DIP (DOE-UCLA)Q9UL63
IntAct (EBI)Q9UL63
FunCoupENSG00000128585
BioGRIDMKLN1
STRING (EMBL)MKLN1
ZODIACMKLN1
Ontologies - Pathways
QuickGOQ9UL63
Ontology : AmiGOruffle  cytosol  cell cortex  cell-matrix adhesion  signal transduction  regulation of cell shape  actin cytoskeleton reorganization  
Ontology : EGO-EBIruffle  cytosol  cell cortex  cell-matrix adhesion  signal transduction  regulation of cell shape  actin cytoskeleton reorganization  
NDEx NetworkMKLN1
Atlas of Cancer Signalling NetworkMKLN1
Wikipedia pathwaysMKLN1
Orthology - Evolution
OrthoDB4289
GeneTree (enSembl)ENSG00000128585
Phylogenetic Trees/Animal Genes : TreeFamMKLN1
HOVERGENQ9UL63
HOGENOMQ9UL63
Homologs : HomoloGeneMKLN1
Homology/Alignments : Family Browser (UCSC)MKLN1
Gene fusions - Rearrangements
Fusion : MitelmanEDIL3/MKLN1 [5q14.3/7q32.3]  [t(5;7)(q14;q32)]  
Fusion : MitelmanMKLN1/AMTN [7q32.3/4q13.3]  [t(4;7)(q13;q32)]  
Fusion : MitelmanMKLN1/IMMP2L [7q32.3/7q31.1]  [t(7;7)(q31;q32)]  
Fusion: TCGAMKLN1 7q32.3 AMTN 4q13.3 PRAD
Fusion: TCGAMKLN1 7q32.3 IMMP2L 7q31.1 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMKLN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MKLN1
dbVarMKLN1
ClinVarMKLN1
1000_GenomesMKLN1 
Exome Variant ServerMKLN1
ExAC (Exome Aggregation Consortium)MKLN1 (select the gene name)
Genetic variants : HAPMAP4289
Genomic Variants (DGV)MKLN1 [DGVbeta]
DECIPHER (Syndromes)7:130794855-131181398  ENSG00000128585
CONAN: Copy Number AnalysisMKLN1 
Mutations
ICGC Data PortalMKLN1 
TCGA Data PortalMKLN1 
Broad Tumor PortalMKLN1
OASIS PortalMKLN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMKLN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMKLN1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MKLN1
DgiDB (Drug Gene Interaction Database)MKLN1
DoCM (Curated mutations)MKLN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MKLN1 (select a term)
intoGenMKLN1
Cancer3DMKLN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605623   
Orphanet
MedgenMKLN1
Genetic Testing Registry MKLN1
NextProtQ9UL63 [Medical]
TSGene4289
GENETestsMKLN1
Huge Navigator MKLN1 [HugePedia]
snp3D : Map Gene to Disease4289
BioCentury BCIQMKLN1
ClinGenMKLN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4289
Chemical/Pharm GKB GenePA30828
Clinical trialMKLN1
Miscellaneous
canSAR (ICR)MKLN1 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMKLN1
EVEXMKLN1
GoPubMedMKLN1
iHOPMKLN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:10:45 CEST 2017

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