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

Gene ID: 4170, updated on 4-Jan-2025

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; AllianceGenome:HGNC:6943
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
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Genomic context

See MCL1 in Genome Data Viewer
Location:
1q21.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (150574558..150579610, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (149698578..149703635, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150547034..150552086, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ADAMTSL4 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150539574-150540284 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150540285-150540996 Neighboring gene RNA, 7SL, cytoplasmic 473, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 600, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:150550344-150551543 Neighboring gene Sharpr-MPRA regulatory region 9 Neighboring gene uncharacterized LOC107985203 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:150569961-150570462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:150570463-150570962 Neighboring gene uncharacterized LOC124900445 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150577106-150577944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:150580942-150581628 Neighboring gene Sharpr-MPRA regulatory region 10549 Neighboring gene Sharpr-MPRA regulatory region 6366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:150598651-150599182 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150601815-150602782 Neighboring gene endosulfine alpha

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

General gene information

Clone Names

  • MGC1839, MGC104264

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables BH3 domain binding PubMed 
enables channel activity  
enables protein binding PubMed 
enables protein heterodimerization activity PubMed 
enables protein transmembrane transporter activity PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within DNA damage response PubMed 
involved_in cell fate determination PubMed 
involved_in cellular homeostasis PubMed 
involved_in extrinsic apoptotic signaling pathway in absence of ligand  
involved_in extrinsic apoptotic signaling pathway in absence of ligand PubMed 
involved_in intrinsic apoptotic signaling pathway in response to DNA damage  
involved_in mitochondrial fusion  
involved_in negative regulation of anoikis PubMed 
involved_in negative regulation of apoptotic process PubMed 
involved_in negative regulation of autophagy PubMed 
involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand PubMed 
involved_in positive regulation of apoptotic process PubMed 
involved_in positive regulation of neuron apoptotic process  
involved_in positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway PubMed 
involved_in protein transmembrane transport  
involved_in regulation of apoptotic process PubMed 
involved_in release of cytochrome c from mitochondria  
acts_upstream_of_or_within response to cytokine PubMed 
Component Evidence Code Pubs
part_of Bcl-2 family protein complex PubMed 
part_of Bcl-2 family protein complex PubMed 
located_in cytoplasm PubMed 
located_in cytosol  
located_in cytosol  
located_in membrane PubMed 
located_in membrane  
is_active_in mitochondrial outer membrane  
located_in mitochondrial outer membrane PubMed 
located_in mitochondrion PubMed 
located_in mitochondrion PubMed 
located_in nucleoplasm  
located_in nucleus 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)

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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_029146.2 RefSeqGene

    Range
    5000..10052
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001197320.2NP_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)
    AL356356
    Consensus CDS
    CCDS72909.1
    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
    B2R6B2, D3DV03, D3DV04, Q07820, Q9HD91, Q9NRQ3, Q9NRQ4, Q9UHR7, Q9UHR8, Q9UHR9, Q9UNJ1
    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_182763.3NP_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)
    AL356356
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    150574558..150579610 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    149698578..149703635 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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