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MCL1 myeloid cell leukemia 1 [ Homo sapiens (human) ]

Gene ID: 4170, updated on 7-Aug-2014
Official Symbol
MCL1provided by HGNC
Official Full Name
myeloid cell leukemia 1provided by HGNC
Primary source
HGNC:6943
See related
Ensembl:ENSG00000143384; HPRD:08870; 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]
See MCL1 in Epigenomics, MapViewer
Location:
1q21
Exon count:
4
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 long intergenic non-protein coding RNA 568 Neighboring gene ADAMTS-like 4 Neighboring gene microRNA 4257 Neighboring gene ADAMTSL4 antisense RNA 1 Neighboring gene uncharacterized LOC102724012 Neighboring gene endosulfine alpha

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 Protein Interaction Database

  • 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 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...
  • 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
  • IL-7 Signaling Pathway, organism-specific biosystem (from WikiPathways)
    IL-7 Signaling Pathway, organism-specific biosystemInterleukin-7 belongs to a family of cytokines, which includes IL-2, IL-4, IL-9, IL-15 and IL-21. It signals through a receptor complex consisting of IL-7 receptor alpha chain (IL7RA) and a common ga...
  • IL6-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
    IL6-mediated signaling events, organism-specific biosystem
    IL6-mediated signaling events
  • 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...
  • 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...
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
 
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 
execution phase of apoptosis IDA
Inferred from Direct Assay
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 organismal development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of anoikis IMP
Inferred from Mutant Phenotype
more info
 
negative regulation of execution phase of apoptosis TAS
Traceable Author Statement
more info
PubMed 
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IMP
Inferred from Mutant Phenotype
more info
 
negative regulation of intrinsic apoptotic signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
protein transmembrane transport TAS
Traceable Author Statement
more info
PubMed 
regulation of response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
 
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
 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol ISS
Inferred from Sequence or Structural Similarity
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 IBA
Inferred from Biological aspect of Ancestor
more info
 
mitochondrial outer membrane TAS
Traceable Author Statement
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
induced myeloid leukemia cell differentiation protein Mcl-1
Names
induced myeloid leukemia cell differentiation protein Mcl-1
bcl-2-like protein 3
myeloid cell leukemia ES
bcl-2-related protein EAT/mcl1
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 

    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/TrEMBL
    C8YZ26
    UniProtKB/Swiss-Prot
    Q07820
    Conserved Domains (1) summary
    cd06845
    Location:49165
    Blast Score: 344
    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 proteins identical to 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, OTTHUMP00000032794, ENST00000369026, OTTHUMT00000084402
    Conserved Domains (1) summary
    cd06845
    Location:175318
    Blast Score: 379
    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 proteins identical to 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
    Conserved Domains (1) summary
    cd06845
    Location:175230
    Blast Score: 99
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

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

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    121925157..121930349
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

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