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    MCL1 MCL1, BCL2 family apoptosis regulator [ Homo sapiens (human) ]

    Gene ID: 4170, updated on 25-Jun-2017
    Official Symbol
    MCL1provided by HGNC
    Official Full Name
    MCL1, BCL2 family apoptosis regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:6943
    See related
    Ensembl:ENSG00000143384 MIM:159552; Vega:OTTHUMG00000034867
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TM; EAT; MCL1L; MCL1S; Mcl-1; BCL2L3; MCL1-ES; bcl2-L-3; mcl1/EAT
    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 spliced shorter gene products (isoform 2 and isoform 3) promote apoptosis and are death-inducing. [provided by RefSeq, Oct 2010]
    Orthologs
    Location:
    1q21.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (150574551..150579738, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150547027..150552214, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ADAMTSL4 antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 473, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 600, pseudogene Neighboring gene uncharacterized LOC107985203 Neighboring gene endosulfine alpha

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3.
    NHGRI GWA Catalog
    Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Gp120-induced M-CSF downregulates the TRAIL receptor TRAIL-R1/DR4 and upregulates the anti-apoptotic genes Bfl-1 and Mcl-1 PubMed
    Vpr vpr Bcl-xL and MCL-1 play a critical role in macrophage survival but not in resistance to HIV-1 Vpr-induced apoptosis PubMed
    retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with myeloid cell leukemia sequence 1 (BCL2-related) (MCL1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    • Apoptosis, organism-specific biosystem (from KEGG)
      Apoptosis, organism-specific biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
    • Apoptosis, organism-specific biosystem (from WikiPathways)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Apoptosis, conserved biosystem (from KEGG)
      Apoptosis, conserved biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
    • Apoptosis Modulation and Signaling, organism-specific biosystem (from WikiPathways)
      Apoptosis Modulation and Signaling, organism-specific biosystemApoptosis, or cell death program, can be activated by various mechanisms within the extrinsic and the intrinsic pathway. While activation of cell death receptors leads to the engagement of the extrin...
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
      Direct p53 effectors, organism-specific biosystem
      Direct p53 effectors
    • E2F transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      E2F transcription factor network, organism-specific biosystem
      E2F transcription factor network
    • HIF-1-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      HIF-1-alpha transcription factor network, organism-specific biosystem
      HIF-1-alpha transcription factor network
    • Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex, organism-specific biosystem (from WikiPathways)
      Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex, organism-specific biosystemGABP alpha/beta complex mediates the maintenance of hematopoietic stem cells (HSCs) through control of proteins necessary for epigenetic modification and transcription regulation. The activation of k...
    • IL6-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL6-mediated signaling events, organism-specific biosystem
      IL6-mediated signaling events
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Interleukin-4 and 13 signaling, organism-specific biosystem (from REACTOME)
      Interleukin-4 and 13 signaling, organism-specific biosystemInterleukin-4 (IL4) is a principal regulatory cytokine during the immune response, crucially important in allergy and asthma (Nelms et al. 1999). When resting T cells are antigen-activated and expand...
    • Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
      Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
    • Jak-STAT signaling pathway, conserved biosystem (from KEGG)
      Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
    • MicroRNAs in cancer, organism-specific biosystem (from KEGG)
      MicroRNAs in cancer, organism-specific biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
    • MicroRNAs in cancer, conserved biosystem (from KEGG)
      MicroRNAs in cancer, conserved biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
    • Nanomaterial induced apoptosis, organism-specific biosystem (from WikiPathways)
      Nanomaterial induced apoptosis, organism-specific biosystemApotosis caused by nanomaterials, such as single-walled carbon nanohorns, titanium oxide, and polystyrene nanoparticles, may be induced through lysosomal impairment. For example, PAMAMs have been fou...
    • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
      PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
      PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • Photodynamic therapy-induced AP-1 survival signaling., organism-specific biosystem (from WikiPathways)
      Photodynamic therapy-induced AP-1 survival signaling., organism-specific biosystemPhotodynamic therapy may induce an acute stress response mediated by mitogen-activated protein kinase kinase kinase 5 (MAP3K5), its downstream MAPKs that target c-Jun N-terminal kinase (JNK, MAPK8) a...
    • Photodynamic therapy-induced HIF-1 survival signaling, organism-specific biosystem (from WikiPathways)
      Photodynamic therapy-induced HIF-1 survival signaling, organism-specific biosystemPhotodynamic therapy may induce a hypoxic survival response mediated by HIF-1.
    • Regulation of Apoptosis by Parathyroid Hormone-related Protein, organism-specific biosystem (from WikiPathways)
      Regulation of Apoptosis by Parathyroid Hormone-related Protein, organism-specific biosystemThis pathway is based on Figure 8 of "Parathyroid hormone-related protein regulates cell survival pathways via integrin alpha6beta4-mediated activation of phosphatidylinositol 3-kinase/Akt signaling....
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC1839, MGC104264

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    BH3 domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    apoptotic mitochondrial changes IEA
    Inferred from Electronic Annotation
    more info
     
    cell fate determination NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cellular homeostasis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extrinsic apoptotic signaling pathway in absence of ligand IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intrinsic apoptotic signaling pathway in response to DNA damage IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of anoikis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of intrinsic apoptotic signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    protein transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of response to DNA damage stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to cytokine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    Bcl-2 family protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    induced myeloid leukemia cell differentiation protein Mcl-1
    Names
    BCL2 family apoptosis regulator
    bcl-2-like protein 3
    bcl-2-related protein EAT/mcl1
    myeloid cell leukemia 1
    myeloid cell leukemia ES
    myeloid cell leukemia sequence 1 (BCL2-related)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029146.1 RefSeqGene

      Range
      5001..10192
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001197320.1NP_001184249.1  induced myeloid leukemia cell differentiation protein Mcl-1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also known as MCL-1ES (extra short), uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AK312508, AL356356, BC017197, CA421486, FJ917536
      Consensus CDS
      CCDS72909.1
      UniProtKB/Swiss-Prot
      Q07820
      UniProtKB/TrEMBL
      A0A087WT64, C8YZ26
      Related
      ENSP00000477624.1, ENST00000620947.4
      Conserved Domains (1) summary
      cd06845
      Location:49165
      Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...
    2. NM_021960.4NP_068779.1  induced myeloid leukemia cell differentiation protein Mcl-1 isoform 1

      See identical proteins and their annotated locations for NP_068779.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also known as MCL-1L (long), represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK312508, AL356356, BC017197, CA421486
      Consensus CDS
      CCDS957.1
      UniProtKB/Swiss-Prot
      Q07820
      Related
      ENSP00000358022.2, OTTHUMP00000032794, ENST00000369026.2, OTTHUMT00000084402
      Conserved Domains (1) summary
      cd06845
      Location:175318
      Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...
    3. NM_182763.2NP_877495.1  induced myeloid leukemia cell differentiation protein Mcl-1 isoform 2

      See identical proteins and their annotated locations for NP_877495.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as MCL-1S (short), lacks an alternate exon that causes a frameshift, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AF203373, AK312508, AL356356, BC017197, CA421486
      Consensus CDS
      CCDS956.1
      UniProtKB/Swiss-Prot
      Q07820
      Related
      ENSP00000309973.3, OTTHUMP00000032795, ENST00000307940.3, OTTHUMT00000084403
      Conserved Domains (1) summary
      cl02575
      Location:175230
      Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      150574551..150579738 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      151942802..151947994 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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