Human Gene MCL1 (ENST00000369026.3_10) from GENCODE V47lift37
  Description: MCL1 apoptosis regulator, BCL2 family member, transcript variant 1 (from RefSeq NM_021960.5)
Gencode Transcript: ENST00000369026.3_10
Gencode Gene: ENSG00000143384.14_12
Transcript (Including UTRs)
   Position: hg19 chr1:150,547,034-150,552,086 Size: 5,053 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr1:150,549,851-150,552,006 Size: 2,156 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:150,547,034-150,552,086)mRNA (may differ from genome)Protein (350 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MCL1_HUMAN
DESCRIPTION: RecName: Full=Induced myeloid leukemia cell differentiation protein Mcl-1; AltName: Full=Bcl-2-like protein 3; Short=Bcl2-L-3; AltName: Full=Bcl-2-related protein EAT/mcl1; AltName: Full=mcl1/EAT;
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. Isoform 2 promotes apoptosis.
SUBUNIT: Interacts with BAD, BOK, BIK and BFM (By similarity). Interacts with PMAIP1. Isoform 1 interacts with BAX, BAK1, TPT1 and BCL2L11. Heterodimer of isoform 1 and isoform 2. Homodimers of isoform 1 or isoform 2 are not detected. Isoform 2 does not interact with pro-apoptotic BCL2-related proteins.
INTERACTION: Q16611:BAK1; NbExp=6; IntAct=EBI-1003422, EBI-519866; Q07812:BAX; NbExp=3; IntAct=EBI-1003422, EBI-516580; Q9BXH1:BBC3; NbExp=3; IntAct=EBI-1003422, EBI-519884; O43521:BCL2L11; NbExp=6; IntAct=EBI-1003422, EBI-526406; Q03135:CAV1; NbExp=3; IntAct=EBI-1003422, EBI-603614; P49817:Cav1 (xeno); NbExp=3; IntAct=EBI-1003422, EBI-1161338; Q13794:PMAIP1; NbExp=4; IntAct=EBI-1003422, EBI-707392; Q9JM54:Pmaip1 (xeno); NbExp=2; IntAct=EBI-1003422, EBI-709183;
SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein (Potential). Cytoplasm. Mitochondrion. Nucleus, nucleoplasm. Note=Cytoplasmic, associated with mitochondria.
INDUCTION: Expression increases early during phorbol ester-induced differentiation along the monocyte/macrophage pathway in myeloid leukemia cell lines ML-1. Rapidly up-regulated by CSF2 in ML-1 cells. Up-regulated by heat shock-induced differentiation. Expression increases early during retinoic acid-induced differentiation.
PTM: Cleaved by CASP3 during apoptosis. In intact cells cleavage occurs preferentially after Asp-127, yielding a pro-apoptotic 28 kDa C-terminal fragment.
PTM: Rapidly degraded in the absence of phosphorylation on Thr-163 in the PEST region.
PTM: Phosphorylated on Thr-163. Treatment with taxol or okadaic acid induces phosphorylation on additional sites.
SIMILARITY: Belongs to the Bcl-2 family.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mcl1/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MCL1
Diseases sorted by gene-association score: myeloid leukemia (25), leukemia (22), chlamydia (12), chronic lymphocytic leukemia (10), alk-positive anaplastic large cell lymphoma (9), follicular lymphoma (9), cholangiocarcinoma, susceptibility to (9), multiple myeloma (8), megalencephalic leukoencephalopathy with subcortical cysts (8), anaplastic large cell lymphoma (7), oral cavity cancer (7), chronic gonococcal salpingitis (6), mantle cell lymphoma (6), mesothelioma, somatic (5), solitary osseous plasmacytoma (5), lymphoproliferative syndrome 2 (5), triple-receptor negative breast cancer (4), chronic salpingitis (4), acute salpingitis (4), lung cancer (3), acute lymphocytic leukemia (3), leukemia, chronic myeloid, somatic (3), lymphoma, non-hodgkin (2), hepatocellular carcinoma (2), colorectal cancer (2), prostate cancer (2), leukemia, acute lymphoblastic (1), leukemia, acute myeloid (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 207.00 RPKM in Whole Blood
Total median expression: 4134.87 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -23.8080-0.297 Picture PostScript Text
3' UTR -776.502817-0.276 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013281 - Apop_reg_Mc1
IPR002475 - Bcl2-like
IPR020717 - Bcl2_BH1_motif_CS
IPR020726 - Bcl2_BH2_motif_CS
IPR020728 - Bcl2_BH3_motif_CS
IPR026298 - Blc2_fam

Pfam Domains:
PF00452 - Apoptosis regulator proteins, Bcl-2 family

SCOP Domains:
56854 - Bcl-2 inhibitors of programmed cell death

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2KBW - NMR MuPIT 2NL9 - X-ray MuPIT 2NLA - X-ray MuPIT 2PQK - X-ray MuPIT 3D7V - X-ray MuPIT 3IO9 - X-ray MuPIT 3KJ0 - X-ray MuPIT 3KJ1 - X-ray MuPIT 3KJ2 - X-ray MuPIT 3KZ0 - X-ray MuPIT 3MK8 - X-ray MuPIT 3PK1 - X-ray MuPIT 3TWU - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q07820
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008320 protein transmembrane transporter activity
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity
GO:0051434 BH3 domain binding

Biological Process:
GO:0001709 cell fate determination
GO:0006915 apoptotic process
GO:0007275 multicellular organism development
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage
GO:0008637 apoptotic mitochondrial changes
GO:0010507 negative regulation of autophagy
GO:0019221 cytokine-mediated signaling pathway
GO:0019725 cellular homeostasis
GO:0030154 cell differentiation
GO:0034097 response to cytokine
GO:0042981 regulation of apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0071806 protein transmembrane transport
GO:0097192 extrinsic apoptotic signaling pathway in absence of ligand
GO:1903378 positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway
GO:2000811 negative regulation of anoikis
GO:2001020 regulation of response to DNA damage stimulus
GO:2001240 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
GO:2001243 negative regulation of intrinsic apoptotic signaling pathway

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0097136 Bcl-2 family protein complex


-  Descriptions from all associated GenBank mRNAs
  L08246 - Human myeloid cell differentiation protein (MCL1) mRNA.
BC017197 - Homo sapiens myeloid cell leukemia sequence 1 (BCL2-related), mRNA (cDNA clone MGC:1839 IMAGE:3138465), complete cds.
JD072587 - Sequence 53611 from Patent EP1572962.
JD317778 - Sequence 298802 from Patent EP1572962.
JD051262 - Sequence 32286 from Patent EP1572962.
JD498803 - Sequence 479827 from Patent EP1572962.
JD208058 - Sequence 189082 from Patent EP1572962.
JD484068 - Sequence 465092 from Patent EP1572962.
JD221156 - Sequence 202180 from Patent EP1572962.
JD347335 - Sequence 328359 from Patent EP1572962.
JD484194 - Sequence 465218 from Patent EP1572962.
JD294507 - Sequence 275531 from Patent EP1572962.
JD518826 - Sequence 499850 from Patent EP1572962.
JD467480 - Sequence 448504 from Patent EP1572962.
JD368678 - Sequence 349702 from Patent EP1572962.
JD351294 - Sequence 332318 from Patent EP1572962.
JD545604 - Sequence 526628 from Patent EP1572962.
JD320416 - Sequence 301440 from Patent EP1572962.
JD069149 - Sequence 50173 from Patent EP1572962.
JD508352 - Sequence 489376 from Patent EP1572962.
JD130260 - Sequence 111284 from Patent EP1572962.
JD168510 - Sequence 149534 from Patent EP1572962.
JD428913 - Sequence 409937 from Patent EP1572962.
BC071897 - Homo sapiens myeloid cell leukemia sequence 1 (BCL2-related), mRNA (cDNA clone MGC:88576 IMAGE:6586159), complete cds.
JD080076 - Sequence 61100 from Patent EP1572962.
AF118124 - Homo sapiens myeloid cell leukemia sequence 1 (MCL1) mRNA, complete cds.
JD073277 - Sequence 54301 from Patent EP1572962.
DQ580399 - Homo sapiens piRNA piR-48511, complete sequence.
AK294462 - Homo sapiens cDNA FLJ50136 complete cds, highly similar to Induced myeloid leukemia cell differentiation protein Mcl-1.
JD251122 - Sequence 232146 from Patent EP1572962.
JD132843 - Sequence 113867 from Patent EP1572962.
JD131890 - Sequence 112914 from Patent EP1572962.
JD061965 - Sequence 42989 from Patent EP1572962.
AK304775 - Homo sapiens cDNA FLJ50385 complete cds, highly similar to Induced myeloid leukemia cell differentiation protein Mcl-1.
LF357944 - JP 2014500723-A/165447: Polycomb-Associated Non-Coding RNAs.
JD495026 - Sequence 476050 from Patent EP1572962.
JD339428 - Sequence 320452 from Patent EP1572962.
AK300499 - Homo sapiens cDNA FLJ54274 complete cds, moderately similar to Induced myeloid leukemia cell differentiation protein Mcl-1.
JD299032 - Sequence 280056 from Patent EP1572962.
JD268391 - Sequence 249415 from Patent EP1572962.
JD464349 - Sequence 445373 from Patent EP1572962.
AK316267 - Homo sapiens cDNA, FLJ79166 complete cds, highly similar to Induced myeloid leukemia cell differentiation protein Mcl-1.
AK297217 - Homo sapiens cDNA FLJ53764 complete cds, highly similar to Induced myeloid leukemia cell differentiation protein Mcl-1.
BC107735 - Homo sapiens myeloid cell leukemia sequence 1 (BCL2-related), mRNA (cDNA clone MGC:104264 IMAGE:4770487), complete cds.
JD507660 - Sequence 488684 from Patent EP1572962.
JD539965 - Sequence 520989 from Patent EP1572962.
JD053520 - Sequence 34544 from Patent EP1572962.
JD284385 - Sequence 265409 from Patent EP1572962.
JD299230 - Sequence 280254 from Patent EP1572962.
JD432986 - Sequence 414010 from Patent EP1572962.
AF203373 - Homo sapiens myeloid cell leukemia-1 short protein (MCL1) mRNA, complete cds.
BT006640 - Homo sapiens myeloid cell leukemia sequence 1 (BCL2-related) mRNA, complete cds.
DQ890628 - Synthetic construct clone IMAGE:100003258; FLH164474.01X; RZPDo839G08162D myeloid cell leukemia sequence 1 (BCL2-related) (MCL1) gene, encodes complete protein.
FJ917536 - Homo sapiens myeloid cell leukemia ES variant (MCL1) mRNA, complete cds, alternatively spliced.
AK312508 - Homo sapiens cDNA, FLJ92872, highly similar to Homo sapiens myeloid cell leukemia sequence 1 (BCL2-related) (MCL1), mRNA.
KJ891591 - Synthetic construct Homo sapiens clone ccsbBroadEn_00985 MCL1 gene, encodes complete protein.
DQ893795 - Synthetic construct Homo sapiens clone IMAGE:100008255; FLH164470.01L; RZPDo839G08161D myeloid cell leukemia sequence 1 (BCL2-related) (MCL1) gene, encodes complete protein.
AB385142 - Synthetic construct DNA, clone: pF1KB5642, Homo sapiens MCL1 gene for induced myeloid leukemia cell differentiation protein Mcl-1, complete cds, without stop codon, in Flexi system.
LF357945 - JP 2014500723-A/165448: Polycomb-Associated Non-Coding RNAs.
AF118277 - Homo sapiens NCR-EW2 Ewing's sarcoma Bcl-2-related protein EAT/mcl1 mRNA, partial cds.
LF357946 - JP 2014500723-A/165449: Polycomb-Associated Non-Coding RNAs.
AF118278 - Homo sapiens NCR-NB3 neuroblastoma Bcl-2-related protein EAT/mcl1 mRNA, partial cds.
AF118276 - Homo sapiens KH myeloid leukemia Bcl-2-related protein EAT/mcl1 mRNA, partial cds.
CU677857 - Synthetic construct Homo sapiens gateway clone IMAGE:100023313 5' read MCL1 mRNA.
DQ587034 - Homo sapiens piRNA piR-54146, complete sequence.
HV304326 - JP 2009541240-A/7: Combinations Comprising Staurosporines.
JD385510 - Sequence 366534 from Patent EP1572962.
MA593521 - JP 2018138019-A/165447: Polycomb-Associated Non-Coding RNAs.
MA593522 - JP 2018138019-A/165448: Polycomb-Associated Non-Coding RNAs.
MA593523 - JP 2018138019-A/165449: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q07820 (Reactome details) participates in the following event(s):

R-HSA-6785807 Interleukin-4 and 13 signaling
R-HSA-449147 Signaling by Interleukins
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: B2R6B2, BCL2L3, D3DV03, D3DV04, ENST00000369026.1, ENST00000369026.2, MCL1_HUMAN, NM_021960, Q07820, Q9HD91, Q9NRQ3, Q9NRQ4, Q9UHR7, Q9UHR8, Q9UHR9, Q9UNJ1, uc318hgs.1, uc318hgs.2
UCSC ID: ENST00000369026.3_10
RefSeq Accession: NM_021960.5
Protein: Q07820 (aka MCL1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.