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

Gene ID: 4170, updated on 10-May-2020

Summary

Official Symbol
MCL1provided by HGNC
Official Full Name
MCL1 apoptosis regulator, BCL2 family memberprovided by HGNC
Primary source
HGNC:HGNC:6943
See related
Ensembl:ENSG00000143384 MIM:159552
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]
Expression
Ubiquitous expression in bone marrow (RPKM 341.7), gall bladder (RPKM 276.1) and 25 other tissues See more
Orthologs

Genomic context

See MCL1 in Genome Data Viewer
Location:
1q21.2
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 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 Sharpr-MPRA regulatory region 9 Neighboring gene uncharacterized LOC107985203 Neighboring gene endosulfine alpha

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 heterodimerization activity IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
protein transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell fate determination NAS
Non-traceable Author Statement
more info
PubMed 
cellular homeostasis NAS
Non-traceable Author Statement
more info
PubMed 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
extrinsic apoptotic signaling pathway in absence of ligand IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
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 
cell IEA
Inferred from Electronic Annotation
more info
 
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 outer membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 

General protein information

Preferred Names
induced myeloid leukemia cell differentiation protein Mcl-1
Names
BCL2 family apoptosis regulator
MCL1, 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)

NCBI Reference Sequences (RefSeq)

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_021960.5NP_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)
    AL356356
    Consensus CDS
    CCDS957.1
    UniProtKB/Swiss-Prot
    Q07820
    Related
    ENSP00000358022.2, ENST00000369026.3
    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, ENST00000307940.3
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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