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A repository for genes associated with endometriosis

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Gene id 4170
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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 spliced shorter gene products (isoform 2 and isoform 3) promote apoptosis and are death-inducing. [provided by RefSeq, Oct 2010]
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

Motifs
BH3 (209-223)
BH1 (252-272)
BH2. (304-319)
Interpro:  IPR013281 IPR002475 IPR020717 IPR020726 IPR020728 IPR026298
Prosite:   PS50062 PS01080 PS01258 PS01259

Pfam:  
PF00452

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
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

DIP:  
231
MINT:   89669
STRING:   ENSP00000358022;
Other Databases GeneCards:  MCL1;  Malacards:  MCL1

Gene ontology


GO accessionTerm nameEvidence codeGo 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 membr
ane
TAS cellular_component
GO:0005759 mitochondrial matrix
IEA cellular_component
GO:0005829 cytosol
ISS cellular_component
GO:0007275 multicellular organism de
velopment
IEA biological_process
GO:0008630 intrinsic apoptotic signa
ling pathway in response
to DNA damage
IBA biological_process
GO:0008637 apoptotic mitochondrial c
hanges
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 mem
brane
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 heterodimerizatio
n activity
IPI molecular_function
GO:0051434 BH3 domain binding
IPI molecular_function
GO:0071806 protein transmembrane tra
nsport
IEA biological_process
GO:0097136 Bcl-2 family protein comp
lex
IDA cellular_component
GO:0097192 extrinsic apoptotic signa
ling pathway in absence o
f ligand
IMP biological_process
GO:1903378 positive regulation of ox
idative stress-induced ne
uron intrinsic apoptotic
signaling pathway
IGI biological_process
GO:2000811 negative regulation of an
oikis
IMP biological_process
GO:2001020 regulation of response to
DNA damage stimulus
IMP biological_process
GO:2001240 negative regulation of ex
trinsic apoptotic signali
ng pathway in absence of
ligand
IMP biological_process
GO:2001243 negative regulation of in
trinsic apoptotic signali
ng 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 membr
ane
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 de
velopment
IEA biological_process
GO:0008630 intrinsic apoptotic signa
ling pathway in response
to DNA damage
IEA biological_process
GO:0008630 intrinsic apoptotic signa
ling pathway in response
to DNA damage
IBA biological_process
GO:0008637 apoptotic mitochondrial c
hanges
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 mem
brane
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 p
rocess
IEA biological_process
GO:0043066 negative regulation of ap
optotic process
IEA biological_process
GO:0046982 protein heterodimerizatio
n activity
IPI molecular_function
GO:0051434 BH3 domain binding
IEA molecular_function
GO:0051434 BH3 domain binding
IPI molecular_function
GO:0071806 protein transmembrane tra
nsport
IEA biological_process
GO:0097136 Bcl-2 family protein comp
lex
IDA cellular_component
GO:0097192 extrinsic apoptotic signa
ling pathway in absence o
f ligand
IEA biological_process
GO:0097192 extrinsic apoptotic signa
ling pathway in absence o
f ligand
IMP biological_process
GO:1903378 positive regulation of ox
idative stress-induced ne
uron intrinsic apoptotic
signaling pathway
IEA biological_process
GO:1903378 positive regulation of ox
idative stress-induced ne
uron intrinsic apoptotic
signaling pathway
IGI biological_process
GO:2000811 negative regulation of an
oikis
IMP biological_process
GO:2001020 regulation of response to
DNA damage stimulus
IMP biological_process
GO:2001240 negative regulation of ex
trinsic apoptotic signali
ng pathway in absence of
ligand
IMP biological_process
GO:2001243 negative regulation of in
trinsic apoptotic signali
ng 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 membr
ane
TAS cellular_component
GO:0005829 cytosol
ISS cellular_component
GO:0008630 intrinsic apoptotic signa
ling 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 heterodimerizatio
n activity
IPI molecular_function
GO:0051434 BH3 domain binding
IPI molecular_function
GO:0097136 Bcl-2 family protein comp
lex
IDA cellular_component
GO:0097192 extrinsic apoptotic signa
ling pathway in absence o
f ligand
IMP biological_process
GO:1903378 positive regulation of ox
idative stress-induced ne
uron intrinsic apoptotic
signaling pathway
IGI biological_process
GO:2000811 negative regulation of an
oikis
IMP biological_process
GO:2001020 regulation of response to
DNA damage stimulus
IMP biological_process
GO:2001240 negative regulation of ex
trinsic apoptotic signali
ng pathway in absence of
ligand
IMP biological_process
GO:2001243 negative regulation of in
trinsic apoptotic signali
ng pathway
IBA biological_process

KEGG pathways

hsa04151  PI3K-Akt signaling pathway
hsa05206  MicroRNAs in cancer
hsa04630  Jak-STAT signaling pathway
hsa04210  Apoptosis
PTHR11256:SF46  CCKR signaling map
PTHR11256:SF46  CCKR signaling map
PTHR11256:SF46  CCKR signaling map
PTHR11256:SF46  CCKR signaling map
PTHR11256:SF46  Apoptosis signaling pathway

Diseases

Associated diseases References
Azoospermia PMID: 26085468
Endometrial cancer PMID: 25153722
Endometriosis PMID: 24127964
Hypospermatogenesis PMID: 26085468
Endometriosis INFBASE24127964

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
24127964 Endometrio
sis
Caucasi
an
30 women in rep
roductive age w
ith a clinical
or sonographic
suspicion of en
dometrioma
Bcl-2
Bax and Mcl-1
Show abstract