Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4170
Gene name Gene Name - the full gene name approved by the HGNC.
MCL1 apoptosis regulator, BCL2 family member
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MCL1
Synonyms (NCBI Gene) Gene synonyms aliases
BCL2L3, EAT, MCL1-ES, MCL1L, MCL1S, Mcl-1, TM, bcl2-L-3, mcl1/EAT
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT003287 hsa-miR-29b-3p Luciferase reporter assay, Western blot, Immunofluorescence 17404574
MIRT003287 hsa-miR-29b-3p Luciferase reporter assay, Western blot, Immunofluorescence 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 factor Regulation Reference
ATF4 Unknown 22128141
ATM Activation 20164679
DDIT3 Unknown 22253918
E2F1 Repression 11705881
ELK1 Unknown 9880563
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
159552 6943 ENSG00000143384
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Ovarian cancer High-grade serous ovarian cancer Hence, inhibition of BCL-XL or MCL1, but not BCL-2, increased cell killing of HGSOC in combination with cisplatin or paclitaxel, and may represent an effective therapeutic strategy. 31462500 CBGDA
Sarcoidosis Sarcoidosis N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 15547296
Adenocarcinoma Associate 21887682, 31570787, 31601252
Adenocarcinoma Mucinous Associate 12036450
Adenocarcinoma of Lung Associate 32986659, 34685622
Adenoma Stimulate 12036450
Adenoma Associate 21151390
Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis Associate 22403660
Arthritis Rheumatoid Associate 19525395, 21923740, 22403660, 36243930
Astrocytoma Associate 9060818
Ataxia Associate 18495871