• Gene id: 4170

Gene Summary

• Gene Symbol: MCL1   Gene   UCSC   Ensembl
• Aliases: BCL2L3, EAT, MCL1-ES, MCL1L, MCL1S, Mcl-1, TM, bcl2-L-3, mcl1/EAT
• Gene name: MCL1, BCL2 family apoptosis regulator
• Alternate names: induced myeloid leukemia cell differentiation protein Mcl-1, 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),
• Gene location: 1q21.2 (150579737: 150574550)     Exons: 4     NC_000001.11
• Gene summary(Entrez): 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 s
• OMIM: 159552

Protein Summary

• Protein general information: Q07820  
  • Name: Induced myeloid leukemia cell differentiation protein Mcl 1 (Bcl 2 like protein 3) (Bcl2 L 3) (Bcl 2 related protein EAT/mcl1) (mcl1/EAT)
  • Length: 350  
  • Mass: 37,337
• Sequence:

  MFGLKRNAVIGLNLYCGGAGLGAGSGGATRPGGRLLATEKEASARREIGGGEAGAVIGGSAGASPPSTLTPDSRR
  VARPPPIGAEVPDVTATPARLLFFAPTRRAAPLEEMEAPAADAIMSPEEELDGYEPEPLGKRPAVLPLLELVGES
  GNNTSTDGSLPSTPPPAEEEEDELYRQSLEIISRYLREQATGAKDTKPMGRSGATSRKALETLRRVGDGVQRNHE
  TAFQGMLRKLDIKNEDDVKSLSRVMIHVFSDGVTNWGRIVTLISFGAFVAKHLKTINQESCIEPLAESITDVLVR
  TKRDWLVKQRGWDGFVEFFHVEDLEGGIRNVLLAFAGVAGVGAGLAYLIR

• Structural information:
  • Interpro: IPR013281  IPR002475  IPR020717  IPR020726  IPR020728   IPR036834  IPR026298  
  • Prosite: PS50062 PS01080 PS01258 PS01259
  • PDB: 2KBW 2MHS 2NL9 2NLA 2PQK 3D7V 3IO9 3KJ0 3KJ1 3KJ2 3KZ0 3MK8 3PK1 3TWU 3WIX 3WIY 4BPI 4BPJ 4HW2 4HW3 4HW4 4OQ5 4OQ6 4WGI 4WMR 4WMS 4WMT 4WMU 4WMV 4WMW 4WMX 4ZBF 4ZBI 5C3F 5C6H 5FC4 5FDO 5FDR 5IEZ 5IF4 5JSB 5KU9 5LOF 5MES 5MEV 5UUM 5VKC 5VX2 5W89 5W8F 6B4L
  • PDBsum: 2KBW 2MHS 2NL9 2NLA 2PQK 3D7V 3IO9 3KJ0 3KJ1 3KJ2 3KZ0 3MK8 3PK1 3TWU 3WIX 3WIY 4BPI 4BPJ 4HW2 4HW3 4HW4 4OQ5 4OQ6 4WGI 4WMR 4WMS 4WMT 4WMU 4WMV 4WMW 4WMX 4ZBF 4ZBI 5C3F 5C6H 5FC4 5FDO 5FDR 5IEZ 5IF4 5JSB 5KU9 5LOF 5MES 5MEV 5UUM 5VKC 5VX2 5W89 5W8F 6B4L
  • DIP: 231
  • STRING: ENSP00000358022
• Other Databases: GeneCards:  MCL1  Malacards:  MCL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001709	cell fate determination	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IBA	biological process
GO:0008637	apoptotic mitochondrial changes	IEA	biological process
GO:0015266	protein channel activity	TAS	molecular function
GO:0016020	membrane	ISS	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0019725	cellular homeostasis	NAS	biological process
GO:0034097	response to cytokine	IDA	biological process
GO:0042803	protein homodimerization activity	IBA	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0051434	BH3 domain binding	IPI	molecular function
GO:0071806	protein transmembrane transport	IEA	biological process
GO:0097136	Bcl-2 family protein complex	IDA	cellular component
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand	IMP	biological process
GO:1903378	positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IGI	biological process
GO:2000811	negative regulation of anoikis	IMP	biological process
GO:2001020	regulation of response to DNA damage stimulus	IMP	biological process
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IMP	biological process
GO:2001243	negative regulation of intrinsic apoptotic signaling pathway	IBA	biological process
GO:0001709	cell fate determination	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IEA	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IBA	biological process
GO:0008637	apoptotic mitochondrial changes	IEA	biological process
GO:0015266	protein channel activity	TAS	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	ISS	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0019725	cellular homeostasis	NAS	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0034097	response to cytokine	IDA	biological process
GO:0042803	protein homodimerization activity	IBA	molecular function
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0051434	BH3 domain binding	IEA	molecular function
GO:0051434	BH3 domain binding	IPI	molecular function
GO:0071806	protein transmembrane transport	IEA	biological process
GO:0097136	Bcl-2 family protein complex	IDA	cellular component
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand	IEA	biological process
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand	IMP	biological process
GO:1903378	positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IEA	biological process
GO:1903378	positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IGI	biological process
GO:2000811	negative regulation of anoikis	IMP	biological process
GO:2001020	regulation of response to DNA damage stimulus	IMP	biological process
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IMP	biological process
GO:2001243	negative regulation of intrinsic apoptotic signaling pathway	IBA	biological process
GO:0001709	cell fate determination	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IBA	biological process
GO:0015266	protein channel activity	TAS	molecular function
GO:0016020	membrane	ISS	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0019725	cellular homeostasis	NAS	biological process
GO:0034097	response to cytokine	IDA	biological process
GO:0042803	protein homodimerization activity	IBA	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0051434	BH3 domain binding	IPI	molecular function
GO:0097136	Bcl-2 family protein complex	IDA	cellular component
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand	IMP	biological process
GO:1903378	positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IGI	biological process
GO:2000811	negative regulation of anoikis	IMP	biological process
GO:2001020	regulation of response to DNA damage stimulus	IMP	biological process
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IMP	biological process
GO:2001243	negative regulation of intrinsic apoptotic signaling pathway	IBA	biological process

KEGG pathways

Pathway id	Pathway name
hsa00562	Inositol phosphate metabolism
hsa00140	Steroid hormone biosynthesis
hsa00240	Pyrimidine metabolism
hsa03018	RNA degradation
hsa04151	PI3K-Akt signaling pathway
hsa04210	Apoptosis
hsa05206	MicroRNAs in cancer

Diseases

Associated diseases	References
Endometriosis	INFBASE: 24127964
Maturation arrest	MIK: 26085468
Hypospermatogenesis	MIK: 26085468
Germ cell aplasia	MIK: 26085468
Azoospermia	MIK: 26085468
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 26085468
Hypospermatogenesis	MIK: 26085468
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26085468	Hypospermatogenesis, maturation arrest, germ cell aplasia			86 (45 cases of maturation arrest (25 at spermatids and 20 at the spermatocytes), 31 cases of hypospermatogenesis (20 moderate and 11 severe), 5 cases of Sertoli cell-only syndrome, 2 cases of basement membrane hyalinization, and 1 case of tubular and per	Male infertility
26085468	Azoospermia			86 (Forty-five cases of maturation arrest (25 at spermatids and 20 at the spermatocytes), 31 cases of hypospermatogenesis (20 moderate and 11 severe), 5 cases of Sertoli cell-only syndrome, 2 cases of basement membrane hyalinization, and 1 case of tubular	Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R