• Gene id: 598

Gene Summary

• Gene Symbol: BCL2L1   Gene   UCSC   Ensembl
• Aliases: BCL-XL/S, BCL2L, BCLX, Bcl-X, PPP1R52
• Gene name: BCL2 like 1
• Alternate names: bcl-2-like protein 1, apoptosis regulator Bcl-X, protein phosphatase 1, regulatory subunit 52,
• Gene location: 20q11.21 (31723962: 31664451)     Exons: 6     NC_000020.11
• Gene summary(Entrez): The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gen
• OMIM: 603842

SNPs

rs1131692251

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52357615T>G
NC_000003.11   g.52391631T>G
NG_052911.1   g.46297T>G
NM_015512.5   c.3860T>G
NM_015512.4   c.3860T>G
XR_001740098.1   n.7009T>G
XM_017006129.1   c.3860T>G
XM_017006130.1   c.3860T>G
XM_017006131.1   c.3860T>G
XR_001740099.1   n.7009T>G
XM_0  

rs1131692250

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52386159G>A
NC_000003.12   g.52386159G>C
NC_000003.11   g.52420175G>A
NC_000003.11   g.52420175G>C
NG_052911.1   g.74841G>A
NG_052911.1   g.74841G>C|SEQ=[G/A/C]|GENE=DNAH1

rs1131692234

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52397706G>A
NC_000003.11   g.52431722G>A
NG_052911.1   g.86388G>A|SEQ=[G/A]|GENE=DNAH1

rs779490893

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000003.12   g.52396983_52396984del
NC_000003.11   g.52430999_52431000del
NG_052911.1   g.85665_85666del
NM_015512.5   c.11726_11727del
NM_015512.4   c.11726_11727del
XR_001740098.1   n.14944_14945del
XM_017006129.1   c.11795_11796del
XM_017006130.1   c.11726_1172

rs140883175

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52357632G>A
NC_000003.12   g.52357632G>C
NC_000003.11   g.52391648G>A
NC_000003.11   g.52391648G>C
NG_052911.1   g.46314G>A
NG_052911.1   g.46314G>C
NM_015512.5   c.3877G>A
NM_015512.5   c.3877G>C
NM_015512.4   c.3877G>A
NM_015512.4   c.3877G>C
XR_00174  

rs2057951

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.31334059A>G
NC_000022.10   g.31730045A>G|SEQ=[A/G]|GENE=PATZ1
PIK3IP1-DT   101929760

Protein Summary

• Protein general information: Q07817  
  • Name: Bcl 2 like protein 1 (Bcl2 L 1) (Apoptosis regulator Bcl X)
  • Length: 233  
  • Mass: 26049
  • Tissue specificity: Bcl-X(S) is expressed at high levels in cells that undergo a high rate of turnover, such as developing lymphocytes. In contrast, Bcl-X(L) is found in tissues containing long-lived postmitotic cells, such as adult brain.
• Sequence:

  MSQSNRELVVDFLSYKLSQKGYSWSQFSDVEENRTEAPEGTESEMETPSAINGNPSWHLADSPAVNGATGHSSSL
  DAREVIPMAAVKQALREAGDEFELRYRRAFSDLTSQLHITPGTAYQSFEQVVNELFRDGVNWGRIVAFFSFGGAL
  CVESVDKEMQVLVSRIAAWMATYLNDHLEPWIQENGGWDTFVELYGNNAAAESRKGQERFNRWFLTGMTVAGVVL
  LGSLFSRK

• Structural information:
  • Interpro: IPR013279  IPR002475  IPR004725  IPR020717  IPR020726   IPR020728  IPR003093  IPR020731  IPR036834  IPR026298  
  • Prosite: PS50062 PS01080 PS01258 PS01259 PS01260 PS50063
  • PDB: 1BXL 1G5J 1LXL 1MAZ 1R2D 1R2E 1R2G 1R2H 1R2I 1YSG 1YSI 1YSN 2B48 2LP8 2LPC 2M03 2M04 2ME8 2ME9 2MEJ 2O1Y 2O2M 2O2N 2P1L 2PON 2YJ1 2YQ6 2YQ7 2YXJ 3CVA 3FDL 3FDM 3INQ 3IO8 3PL7 3QKD 3R85 3SP7 3SPF 3WIZ 3ZK6 3ZLN 3ZLO 3ZLR 4A1U 4A1W 4AQ3 4BPK 4C52 4C5D 4CIN 4EHR 4HNJ 4IEH 4PPI 4QVE 4QVF 4QVX 4TUH 4Z9V 5AGW 5AGX 5B1Z 5C3
  • PDBsum: 1BXL 1G5J 1LXL 1MAZ 1R2D 1R2E 1R2G 1R2H 1R2I 1YSG 1YSI 1YSN 2B48 2LP8 2LPC 2M03 2M04 2ME8 2ME9 2MEJ 2O1Y 2O2M 2O2N 2P1L 2PON 2YJ1 2YQ6 2YQ7 2YXJ 3CVA 3FDL 3FDM 3INQ 3IO8 3PL7 3QKD 3R85 3SP7 3SPF 3WIZ 3ZK6 3ZLN 3ZLO 3ZLR 4A1U 4A1W 4AQ3 4BPK 4C52 4C5D 4CIN 4EHR 4HNJ 4IEH 4PPI 4QVE 4QVF 4QVX 4TUH 4Z9V 5AGW 5AGX 5B1Z 5C3
  • DIP: 30916
  • STRING: ENSP00000302564
• Other Databases: GeneCards:  BCL2L1  Malacards:  BCL2L1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IDA	cellular component
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:0051881	regulation of mitochondrial membrane potential	IDA	biological process
GO:0001836	release of cytochrome c from mitochondria	IDA	biological process
GO:0046902	regulation of mitochondrial membrane permeability	IDA	biological process
GO:2001243	negative regulation of intrinsic apoptotic signaling pathway	IBA	biological process
GO:0043066	negative regulation of apoptotic process	IBA	biological process
GO:0042803	protein homodimerization activity	IBA	molecular function
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand	IBA	biological process
GO:0046982	protein heterodimerization activity	IBA	molecular function
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IBA	biological process
GO:0005741	mitochondrial outer membrane	IBA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:1902236	negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IDA	biological process
GO:0007093	mitotic cell cycle checkpoint	IMP	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032465	regulation of cytokinesis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005739	mitochondrion	TAS	cellular component
GO:0008637	apoptotic mitochondrial changes	TAS	biological process
GO:1902042	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0034097	response to cytokine	IDA	biological process
GO:0019050	suppression by virus of host apoptotic process	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:2001244	positive regulation of intrinsic apoptotic signaling pathway	TAS	biological process
GO:0042802	identical 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: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: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: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:0097192	extrinsic apoptotic signaling pathway in absence of ligand	IEA	biological process
GO:0071839	apoptotic process in bone marrow cell	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0040008	regulation of growth	IEA	biological process
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0009314	response to radiation	IEA	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0008283	cell population proliferation	IEA	biological process
GO:0007281	germ cell development	IEA	biological process
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0001836	release of cytochrome c from mitochondria	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0097284	hepatocyte apoptotic process	IEA	biological process
GO:0071480	cellular response to gamma radiation	IEA	biological process
GO:0071312	cellular response to alkaloid	IEA	biological process
GO:0071230	cellular response to amino acid stimulus	IEA	biological process
GO:0070584	mitochondrion morphogenesis	IEA	biological process
GO:0051402	neuron apoptotic process	IEA	biological process
GO:0046898	response to cycloheximide	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0009615	response to virus	IEA	biological process
GO:0009566	fertilization	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0001541	ovarian follicle development	IEA	biological process
GO:1902230	negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage	IDA	biological process
GO:1903077	negative regulation of protein localization to plasma membrane	IDA	biological process
GO:0090201	negative regulation of release of cytochrome c from mitochondria	IC	biological process
GO:2001243	negative regulation of intrinsic apoptotic signaling pathway	IDA	biological process
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	TAS	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0051607	defense response to virus	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1900118	negative regulation of execution phase of apoptosis	IDA	biological process
GO:0097136	Bcl-2 family protein complex	IDA	cellular component
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005741	mitochondrial outer membrane	NAS	cellular component
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:0051434	BH3 domain 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

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05168	Herpes simplex virus 1 infection
hsa04151	PI3K-Akt signaling pathway
hsa05012	Parkinson disease
hsa05131	Shigellosis
hsa04014	Ras signaling pathway
hsa05166	Human T-cell leukemia virus 1 infection
hsa05170	Human immunodeficiency virus 1 infection
hsa04621	NOD-like receptor signaling pathway
hsa05202	Transcriptional misregulation in cancer
hsa05225	Hepatocellular carcinoma
hsa04140	Autophagy - animal
hsa04630	JAK-STAT signaling pathway
hsa04210	Apoptosis
hsa05162	Measles
hsa04064	NF-kappa B signaling pathway
hsa05145	Toxoplasmosis
hsa05222	Small cell lung cancer
hsa04137	Mitophagy - animal
hsa05220	Chronic myeloid leukemia
hsa05212	Pancreatic cancer
hsa01521	EGFR tyrosine kinase inhibitor resistance
hsa04115	p53 signaling pathway
hsa05014	Amyotrophic lateral sclerosis
hsa01524	Platinum drug resistance
hsa04215	Apoptosis - multiple species
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map

Diseases

Associated diseases	References
colorectal adenocarcinoma	PMID:8625322
Prostate cancer	PMID:17653717
Lymphocytic leukemia	PMID:21998213
Alzheimer's disease	PMID:9507158
urinary bladder cancer	PMID:18342927
leiomyoma	PMID:16962107
Endometrial cancer	PMID:17311011
uterus interstitial leiomyoma	PMID:16962107
Breast cancer	PMID:16850344
pancreatic cancer	PMID:17941720
Melanoma	PMID:17384650
nephroblastoma	PMID:15717629
Transitional cell carcinoma	PMID:18047955
Chronic obstructive pulmonary disease	PMID:22686245
Breast carcinoma	PMID:16886624
cervical cancer	PMID:17311011
renal cell carcinoma	PMID:12025227
chronic myeloid leukemia	PMID:20728382
Polycythemia vera	PMID:9475763
acute myeloid leukemia	PMID:11410409
acute lymphocytic leukemia	PMID:19020783
acute lymphocytic leukemia	PMID:12469194
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881