Gene Gene information from NCBI Gene database.
Entrez ID 4170
Gene name MCL1 apoptosis regulator, BCL2 family member
Gene symbol MCL1
Synonyms (NCBI Gene)
BCL2L3EATMCL1-ESMCL1LMCL1SMcl-1TMbcl2-L-3mcl1/EAT
Chromosome 1
Chromosome location 1q21.2
Summary This gene encodes an anti-apoptotic protein, which is a member of the Bcl-2 family. Alternative splicing results in multiple transcript variants. The longest gene product (isoform 1) enhances cell survival by inhibiting apoptosis while the alternatively s
miRNA miRNA information provided by mirtarbase database.
2424
miRTarBase ID miRNA Experiments Reference
MIRT003287 hsa-miR-29b-3p Luciferase reporter assayWestern blotImmunofluorescence 17404574
MIRT003287 hsa-miR-29b-3p Luciferase reporter assayWestern blotImmunofluorescence 17404574
MIRT003260 hsa-miR-133b Western blot 19654003
MIRT003260 hsa-miR-133b Luciferase reporter assay 19654003
MIRT000878 hsa-miR-15a-5p Microarray 18362358
Transcription factors Transcription factors information provided by TRRUST V2 database.
18
Transcription factor Regulation Reference
ATF4 Unknown 22128141
ATM Activation 20164679
DDIT3 Unknown 22253918
E2F1 Repression 11705881
ELK1 Unknown 9880563
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
54
GO ID Ontology Definition Evidence Reference
GO:0001709 Process Cell fate determination NAS 10837489
GO:0001836 Process Release of cytochrome c from mitochondria IBA
GO:0005515 Function Protein binding IPI 15901672, 16697956, 17097560, 17428862, 17525735, 18040043, 18981409, 19074266, 19605477, 19683529, 19968986, 20023629, 20085765, 21132008, 21139567, 21145489, 21199865, 21454712, 21458670, 21507240, 22277751, 22516262, 23055042, 23245996, 23680104, 24113155, 26431330, 26859456, 270
GO:0005634 Component Nucleus IDA 20467439
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
159552 6943 ENSG00000143384
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q07820
Protein name Induced myeloid leukemia cell differentiation protein Mcl-1 (Bcl-2-like protein 3) (Bcl2-L-3) (Bcl-2-related protein EAT/mcl1) (mcl1/EAT)
Protein function Involved in the regulation of apoptosis versus cell survival, and in the maintenance of viability but not of proliferation. Mediates its effects by interactions with a number of other regulators of apoptosis. Isoform 1 inhibits apoptosis. Isofor
PDB 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 , 5KU9 , 5LOF , 5MES , 5MEV , 5UUM , 5VKC , 5VX2 , 5W89 , 5W8F , 6B4L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00452 Bcl-2 213 312 Apoptosis regulator proteins, Bcl-2 family Family
Sequence
MFGLKRNAVIGLNLYCGGAGLGAGSGGATRPGGRLLATEKEASARREIGGGEAGAVIGGS
AGASPPSTLTPDSRRVARPPPIGAEVPDVTATPARLLFFAPTRRAAPLEEMEAPAADAIM
SPEEELDGYEPEPLGKRPAVLPLLELVGESGNNTSTDGSLPSTPPPAEEEEDELYRQSLE
IISRYLREQATGAKDTKPMGRSGATSRKALETLRRVGDGVQRNHETAFQGMLRKLDIKNE
DDVKSLSRVMIHVFSDGVTNWGRIVTLISFGAFVAKHLKTINQESCIEPLAESITDVLVR
TKRDWLVKQRGW
DGFVEFFHVEDLEGGIRNVLLAFAGVAGVGAGLAYLIR
Sequence length 350
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  PI3K-Akt signaling pathway
Apoptosis
JAK-STAT signaling pathway
MicroRNAs in cancer
  Interleukin-4 and Interleukin-13 signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
32
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BARRETT ESOPHAGUS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia LHGDN 17545167
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 24735609
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 18398104, 19965632, 23881917, 23908358, 24703900, 30347215
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 19946262, 21993315, 26459180, 30361682, 31612056, 31801941
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia BEFREE 8600156, 9771965
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 22751450, 23760752
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 19654003, 19782681, 28692117
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 19782681
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 31384313
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 11585835, 31200834, 31601252
★☆☆☆☆
Found in Text Mining only