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MCL1 (MCL1, BCL2 family apoptosis regulator)

Identity

Alias_namesmyeloid cell leukemia sequence 1 (BCL2-related)
myeloid cell leukemia 1
Alias_symbol (synonym)BCL2L3
Mcl-1
Other aliasEAT
MCL1-ES
MCL1L
MCL1S
TM
bcl2-L-3
mcl1/EAT
HGNC (Hugo) MCL1
LocusID (NCBI) 4170
Atlas_Id 41317
Location 1q21.2  [Link to chromosome band 1q21]
Location_base_pair Starts at 150574551 and ends at 150579738 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		CCL4 (17q12) / MCL1 (1q21.3)MCL1 (1q21.3) / APLNR (11q12.1)MCL1 (1q21.3) / AR (Xq12)
MCL1 (1q21.3) / CTSS (1q21.3)MCL1 (1q21.3) / GARS (7p14.3)MCL1 (1q21.3) / MCL1 (1q21.3)
MCL1 (1q21.3) / SERPINA1 (14q32.13)PPP1R12B (1q32.1) / MCL1 (1q21.3)SLC25A1 (22q11.21) / MCL1 (1q21.3)
ZZZ3 (1p31.1) / MCL1 (1q21.3)MCL1 1q21.3 / AR Xq12MCL1 1q21.3 / CTSS 1q21.3

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

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  Multiple Myeloma
t(4;11)(q21;q23) KMT2A/AFF1

External links

Nomenclature
HGNC (Hugo)MCL1   6943
Cards
Entrez_Gene (NCBI)MCL1  4170  MCL1, BCL2 family apoptosis regulator
AliasesBCL2L3; EAT; MCL1-ES; MCL1L; 
MCL1S; Mcl-1; TM; bcl2-L-3; mcl1/EAT
GeneCards (Weizmann)MCL1
Ensembl hg19 (Hinxton)ENSG00000143384 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143384 [Gene_View]  chr1:150574551-150579738 [Contig_View]  MCL1 [Vega]
ICGC DataPortalENSG00000143384
TCGA cBioPortalMCL1
AceView (NCBI)MCL1
Genatlas (Paris)MCL1
WikiGenes4170
SOURCE (Princeton)MCL1
Genetics Home Reference (NIH)MCL1
Genomic and cartography
GoldenPath hg38 (UCSC)MCL1  -     chr1:150574551-150579738 -  1q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MCL1  -     1q21.2   [Description]    (hg19-Feb_2009)
EnsemblMCL1 - 1q21.2 [CytoView hg19]  MCL1 - 1q21.2 [CytoView hg38]
Mapping of homologs : NCBIMCL1 [Mapview hg19]  MCL1 [Mapview hg38]
OMIM159552   
Gene and transcription
Genbank (Entrez)AA453505 AF118124 AF118276 AF118277 AF118278
RefSeq transcript (Entrez)NM_001197320 NM_021960 NM_182763
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MCL1
Cluster EST : UnigeneHs.632486 [ NCBI ]
CGAP (NCI)Hs.632486
Alternative Splicing GalleryENSG00000143384
Gene ExpressionMCL1 [ NCBI-GEO ]   MCL1 [ EBI - ARRAY_EXPRESS ]   MCL1 [ SEEK ]   MCL1 [ MEM ]
Gene Expression Viewer (FireBrowse)MCL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4170
GTEX Portal (Tissue expression)MCL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ07820   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ07820  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ07820
Splice isoforms : SwissVarQ07820
PhosPhoSitePlusQ07820
Domaine pattern : Prosite (Expaxy)BCL2_FAMILY (PS50062)    BH1 (PS01080)    BH2 (PS01258)    BH3 (PS01259)   
Domains : Interpro (EBI)Apop_reg_Mc1    Bcl2-like    Bcl2_BH1_motif_CS    Bcl2_BH2_motif_CS    Bcl2_BH3_motif_CS    Blc2_fam   
Domain families : Pfam (Sanger)Bcl-2 (PF00452)   
Domain families : Pfam (NCBI)pfam00452   
Conserved Domain (NCBI)MCL1
DMDM Disease mutations4170
Blocks (Seattle)MCL1
PDB (SRS)2KBW    2MHS    2NL9    2NLA    2PQK    3D7V    3IO9    3KJ0    3KJ1    3KJ2    3KZ0    3MK8    3PK1    3TWU    3WIX    3WIY    4BPI    4BPJ    4HW2    4HW3    4HW4    4OQ5    4OQ6    4WGI    4WMR    4WMS    4WMT    4WMU    4WMV    4WMW    4WMX    4ZBF    4ZBI    5C3F    5C6H    5FC4    5FDO    5FDR    5IEZ    5IF4    5JSB    5LOF    5MES    5MEV   
PDB (PDBSum)2KBW    2MHS    2NL9    2NLA    2PQK    3D7V    3IO9    3KJ0    3KJ1    3KJ2    3KZ0    3MK8    3PK1    3TWU    3WIX    3WIY    4BPI    4BPJ    4HW2    4HW3    4HW4    4OQ5    4OQ6    4WGI    4WMR    4WMS    4WMT    4WMU    4WMV    4WMW    4WMX    4ZBF    4ZBI    5C3F    5C6H    5FC4    5FDO    5FDR    5IEZ    5IF4    5JSB    5LOF    5MES    5MEV   
PDB (IMB)2KBW    2MHS    2NL9    2NLA    2PQK    3D7V    3IO9    3KJ0    3KJ1    3KJ2    3KZ0    3MK8    3PK1    3TWU    3WIX    3WIY    4BPI    4BPJ    4HW2    4HW3    4HW4    4OQ5    4OQ6    4WGI    4WMR    4WMS    4WMT    4WMU    4WMV    4WMW    4WMX    4ZBF    4ZBI    5C3F    5C6H    5FC4    5FDO    5FDR    5IEZ    5IF4    5JSB    5LOF    5MES    5MEV   
PDB (RSDB)2KBW    2MHS    2NL9    2NLA    2PQK    3D7V    3IO9    3KJ0    3KJ1    3KJ2    3KZ0    3MK8    3PK1    3TWU    3WIX    3WIY    4BPI    4BPJ    4HW2    4HW3    4HW4    4OQ5    4OQ6    4WGI    4WMR    4WMS    4WMT    4WMU    4WMV    4WMW    4WMX    4ZBF    4ZBI    5C3F    5C6H    5FC4    5FDO    5FDR    5IEZ    5IF4    5JSB    5LOF    5MES    5MEV   
Structural Biology KnowledgeBase2KBW    2MHS    2NL9    2NLA    2PQK    3D7V    3IO9    3KJ0    3KJ1    3KJ2    3KZ0    3MK8    3PK1    3TWU    3WIX    3WIY    4BPI    4BPJ    4HW2    4HW3    4HW4    4OQ5    4OQ6    4WGI    4WMR    4WMS    4WMT    4WMU    4WMV    4WMW    4WMX    4ZBF    4ZBI    5C3F    5C6H    5FC4    5FDO    5FDR    5IEZ    5IF4    5JSB    5LOF    5MES    5MEV   
SCOP (Structural Classification of Proteins)2KBW    2MHS    2NL9    2NLA    2PQK    3D7V    3IO9    3KJ0    3KJ1    3KJ2    3KZ0    3MK8    3PK1    3TWU    3WIX    3WIY    4BPI    4BPJ    4HW2    4HW3    4HW4    4OQ5    4OQ6    4WGI    4WMR    4WMS    4WMT    4WMU    4WMV    4WMW    4WMX    4ZBF    4ZBI    5C3F    5C6H    5FC4    5FDO    5FDR    5IEZ    5IF4    5JSB    5LOF    5MES    5MEV   
CATH (Classification of proteins structures)2KBW    2MHS    2NL9    2NLA    2PQK    3D7V    3IO9    3KJ0    3KJ1    3KJ2    3KZ0    3MK8    3PK1    3TWU    3WIX    3WIY    4BPI    4BPJ    4HW2    4HW3    4HW4    4OQ5    4OQ6    4WGI    4WMR    4WMS    4WMT    4WMU    4WMV    4WMW    4WMX    4ZBF    4ZBI    5C3F    5C6H    5FC4    5FDO    5FDR    5IEZ    5IF4    5JSB    5LOF    5MES    5MEV   
SuperfamilyQ07820
Human Protein AtlasENSG00000143384
Peptide AtlasQ07820
HPRD08870
IPIIPI00030356   IPI00221306   IPI00943348   IPI00953631   
Protein Interaction databases
DIP (DOE-UCLA)Q07820
IntAct (EBI)Q07820
FunCoupENSG00000143384
BioGRIDMCL1
STRING (EMBL)MCL1
ZODIACMCL1
Ontologies - Pathways
QuickGOQ07820
Ontology : AmiGOcell fate determination  protein binding  nucleus  nucleoplasm  cytoplasm  mitochondrion  mitochondrial outer membrane  mitochondrial matrix  cytosol  cytosol  multicellular organism development  intrinsic apoptotic signaling pathway in response to DNA damage  apoptotic mitochondrial changes  negative regulation of autophagy  protein channel activity  membrane  membrane  integral component of membrane  cellular homeostasis  response to cytokine  negative regulation of apoptotic process  protein heterodimerization activity  BH3 domain binding  protein transmembrane transport  Bcl-2 family protein complex  extrinsic apoptotic signaling pathway in absence of ligand  positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway  negative regulation of anoikis  regulation of response to DNA damage stimulus  negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  
Ontology : EGO-EBIcell fate determination  protein binding  nucleus  nucleoplasm  cytoplasm  mitochondrion  mitochondrial outer membrane  mitochondrial matrix  cytosol  cytosol  multicellular organism development  intrinsic apoptotic signaling pathway in response to DNA damage  apoptotic mitochondrial changes  negative regulation of autophagy  protein channel activity  membrane  membrane  integral component of membrane  cellular homeostasis  response to cytokine  negative regulation of apoptotic process  protein heterodimerization activity  BH3 domain binding  protein transmembrane transport  Bcl-2 family protein complex  extrinsic apoptotic signaling pathway in absence of ligand  positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway  negative regulation of anoikis  regulation of response to DNA damage stimulus  negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  
Pathways : KEGGPI3K-Akt signaling pathway    MicroRNAs in cancer   
NDEx NetworkMCL1
Atlas of Cancer Signalling NetworkMCL1
Wikipedia pathwaysMCL1
Orthology - Evolution
OrthoDB4170
GeneTree (enSembl)ENSG00000143384
Phylogenetic Trees/Animal Genes : TreeFamMCL1
HOVERGENQ07820
HOGENOMQ07820
Homologs : HomoloGeneMCL1
Homology/Alignments : Family Browser (UCSC)MCL1
Gene fusions - Rearrangements
Fusion : MitelmanMCL1/AR [1q21.3/Xq12]  
Fusion : MitelmanMCL1/CTSS [1q21.3/1q21.3]  [t(1;1)(q21;q21)]  
Fusion: TCGAMCL1 1q21.3 AR Xq12 PRAD
Fusion: TCGAMCL1 1q21.3 CTSS 1q21.3 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMCL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MCL1
dbVarMCL1
ClinVarMCL1
1000_GenomesMCL1 
Exome Variant ServerMCL1
ExAC (Exome Aggregation Consortium)MCL1 (select the gene name)
Genetic variants : HAPMAP4170
Genomic Variants (DGV)MCL1 [DGVbeta]
DECIPHERMCL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMCL1 
Mutations
ICGC Data PortalMCL1 
TCGA Data PortalMCL1 
Broad Tumor PortalMCL1
OASIS PortalMCL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMCL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMCL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MCL1
DgiDB (Drug Gene Interaction Database)MCL1
DoCM (Curated mutations)MCL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MCL1 (select a term)
intoGenMCL1
Cancer3DMCL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM159552   
Orphanet
MedgenMCL1
Genetic Testing Registry MCL1
NextProtQ07820 [Medical]
TSGene4170
GENETestsMCL1
Target ValidationMCL1
Huge Navigator MCL1 [HugePedia]
snp3D : Map Gene to Disease4170
BioCentury BCIQMCL1
ClinGenMCL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4170
Chemical/Pharm GKB GenePA30688
Clinical trialMCL1
Miscellaneous
canSAR (ICR)MCL1 (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMCL1
EVEXMCL1
GoPubMedMCL1
iHOPMCL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:17:31 CEST 2017
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