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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 spliced shorter gene products (isoform 2 and isoform 3) promote apoptosis and are death-inducing. [provided by RefSeq, Oct 2010]
MCL1 (MCL1 Apoptosis Regulator, BCL2 Family Member) is a Protein Coding gene. Diseases associated with MCL1 include Myeloid Leukemia and Chlamydia. Among its related pathways are Apoptosis Modulation and Signaling and E2F transcription factor network. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and BH3 domain binding. An important paralog of this gene is BCL2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 15901672 |
GO:0008320 | protein transmembrane transporter activity | TAS | 10837489 |
GO:0042803 | protein homodimerization activity | IBA | 21873635 |
GO:0046982 | protein heterodimerization activity | IBA,IPI | 10837489 |
GO:0051434 | BH3 domain binding | IPI | 21036904 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005634 | nucleus | IDA | 20467439 |
GO:0005654 | nucleoplasm | IEA | -- |
GO:0005737 | cytoplasm | TAS | 10837489 |
GO:0005739 | mitochondrion | IDA | 7896880 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Apoptosis Modulation and Signaling |
.41
|
.31
|
2 | JAK-STAT signaling pathway | ||
3 | Cytokine Signaling in Immune system | ||
4 | Apoptosis and Autophagy | ||
5 | MicroRNAs in cancer |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001709 | cell fate determination | NAS | 10837489 |
GO:0006915 | apoptotic process | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage | IBA | 21873635 |
GO:0010507 | negative regulation of autophagy | IMP | 24113155 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
AT-101 | Approved, Investigational | Pharma | Target, inhibitor | BH3-mimetic,gossypol enantiomer, BCL-2 inhibitors | 86 | |
Mitomycin | Approved | Pharma | Inhibits DNA synthesis,antibiotic and antitumor agent | 0 | ||
A-1210477 | Pharma | MCL-1 inhibitor | 0 | |||
Marinopyrrole A | Pharma | Selective Mcl-1 inhibitor | 0 | |||
MIM1 | Pharma | Mcl-1 Inhibitor | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
A-1210477 | MCL-1 inhibitor | 1668553-26-1 |
Marinopyrrole A | Selective Mcl-1 inhibitor | 1227962-62-0 |
MIM1 | Mcl-1 Inhibitor | |
Mitomycin C | Inhibits DNA synthesis,antibiotic and antitumor agent | 1950-07-7 |
TW-37 | Bcl-2 inhibitor, inhibits Bcl-2,Bcl-XL and Mcl-1 | 877877-35-5 |
UMI-77 | 518303-20-3 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||
SP2: | - | - | |||||||||||||
SP3: | - | - | - | ||||||||||||
SP4: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MCL1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MCL1 30 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | MCL1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mcl1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Mcl1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MCL1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MCL1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MCL1 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | mcl1a 30 31 |
|
OneToMany | |
mcl1b 31 |
|
OneToMany | |||
bcl2l10 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
716276 | Benign: not provided | 150,578,834(-) | C/A | INTRON_VARIANT | |
770854 | Benign: not provided | 150,578,448(-) | T/C | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
788764 | Benign: not provided | 150,579,173(-) | T/C | MISSENSE_VARIANT,INTRON_VARIANT | |
rs1186393634 | Uncertain Significance: Severe Myopia | 150,577,397(-) | C/A | MISSENSE_VARIANT | |
rs11580946 | - | p.Ala227Val |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1006838 | CNV | gain | 25217958 |