Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 1234
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol CCR5   Gene   UCSC   Ensembl
Aliases CC-CKR-5, CCCKR5, CCR-5, CD195, CKR-5, CKR5, CMKBR5, IDDM22
Gene name C-C motif chemokine receptor 5 (gene/pseudogene)
Alternate names C-C chemokine receptor type 5, C-C motif chemokine receptor 5 A159A, HIV-1 fusion coreceptor, chemokine (C-C motif) receptor 5, chemokine receptor CCR5, chemokine recptor CCR5 Delta32, chemr13,
Gene location 3p21.31 (46370141: 46376205)     Exons: 3     NC_000003.12
Gene summary(Entrez) This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. This protein is expressed by T cells and macrophages, and is known to be an important co-receptor for macrophage-tropic virus, including HIV, to enter host cells. Defective alleles of this gene have been associated with the HIV infection resistance. The ligands of this receptor include monocyte chemoattractant protein 2 (MCP-2), macrophage inflammatory protein 1 alpha (MIP-1 alpha), macrophage inflammatory protein 1 beta (MIP-1 beta) and regulated on activation normal T expressed and secreted protein (RANTES). Expression of this gene was also detected in a promyeloblastic cell line, suggesting that this protein may play a role in granulocyte lineage proliferation and differentiation. This gene is located at the chemokine receptor gene cluster region. An allelic polymorphism in this gene results in both functional and non-functional alleles; the reference genome represents the functional allele. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2015]
OMIM 601373

Protein Summary
Protein general information P51681  

Name: C C chemokine receptor type 5 (C C CKR 5) (CC CKR 5) (CCR 5) (CCR5) (CHEMR13) (HIV 1 fusion coreceptor) (CD antigen CD195)

Length: 352  Mass: 40,524

Tissue specificity: Highly expressed in spleen, thymus, in the myeloid cell line THP-1, in the promyeloblastic cell line KG-1a and on CD4+ and CD8+ T-cells. Medium levels in peripheral blood leukocytes and in small intestine. Low levels in ovary and lung.

Sequence MDYQVSSPIYDINYYTSEPCQKINVKQIAARLLPPLYSLVFIFGFVGNMLVILILINCKRLKSMTDIYLLNLAIS
DLFFLLTVPFWAHYAAAQWDFGNTMCQLLTGLYFIGFFSGIFFIILLTIDRYLAVVHAVFALKARTVTFGVVTSV
ITWVVAVFASLPGIIFTRSQKEGLHYTCSSHFPYSQYQFWKNFQTLKIVILGLVLPLLVMVICYSGILKTLLRCR
NEKKRHRAVRLIFTIMIVYFLFWAPYNIVLLLNTFQEFFGLNNCSSSNRLDQAMQVTETLGMTHCCINPIIYAFV
GEKFRNYLLVFFQKHIAKRFCKCCSIFQQEAPERASSVYTRSTGEQEISVGL
Structural information
Interpro:  IPR002240 IPR000355 IPR000276 IPR017452
Prosite:   PS00237 PS50262

Pfam:  		 PF00001

PDB:  		 1ND8 1NE0 1OPN 1OPT 1OPW 2L87 2MZX 2RLL 2RRS 4MBS
PDBsum:   1ND8 1NE0 1OPN 1OPT 1OPW 2L87 2MZX 2RLL 2RRS 4MBS

DIP:  		 5866
MINT:   103024
STRING:   ENSP00000292303;
Other Databases GeneCards:  CCR5;  Malacards:  CCR5

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000165 MAPK cascade
 IEP biological_process
GO:0001618 virus receptor activity
 IEA molecular_function
GO:0002407 dendritic cell chemotaxis
 TAS biological_process
GO:0003779 actin binding
 IDA molecular_function
GO:0004435 phosphatidylinositol phos
pholipase C activity
 TAS molecular_function
GO:0004950 chemokine receptor activi
ty
 TAS 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:0005737 cytoplasm
 TAS cellular_component
GO:0005768 endosome
 IDA cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005887 integral component of pla
sma membrane
 TAS cellular_component
GO:0006816 calcium ion transport
 IDA biological_process
GO:0006935 chemotaxis
 TAS biological_process
GO:0006954 inflammatory response
 IEA biological_process
GO:0006955 immune response
 IEA biological_process
GO:0006968 cellular defense response
 TAS biological_process
GO:0007166 cell surface receptor sig
naling pathway
 TAS biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
 IMP biological_process
GO:0007204 positive regulation of cy
tosolic calcium ion conce
ntration
 TAS biological_process
GO:0007267 cell-cell signaling
 IDA biological_process
GO:0009897 external side of plasma m
embrane
 IDA cellular_component
GO:0009897 external side of plasma m
embrane
 IDA cellular_component
GO:0009897 external side of plasma m
embrane
 IDA cellular_component
GO:0009986 cell surface
 IDA cellular_component
GO:0014808 release of sequestered ca
lcium ion into cytosol by
sarcoplasmic reticulum
 IDA biological_process
GO:0015026 coreceptor activity
 TAS molecular_function
GO:0016493 C-C chemokine receptor ac
tivity
 IDA molecular_function
GO:0016493 C-C chemokine receptor ac
tivity
 NAS molecular_function
GO:0019064 fusion of virus membrane
with host plasma membrane
 TAS biological_process
GO:0019722 calcium-mediated signalin
g
 IDA biological_process
GO:0019722 calcium-mediated signalin
g
 IDA biological_process
GO:0019957 C-C chemokine binding
 IPI molecular_function
GO:0019957 C-C chemokine binding
 IPI molecular_function
GO:0023052 signaling
 IEP biological_process
GO:0030260 entry into host cell
 TAS biological_process
GO:0070098 chemokine-mediated signal
ing pathway
 IEA biological_process
GO:0070723 response to cholesterol
 IMP biological_process
GO:0071222 cellular response to lipo
polysaccharide
 IEP biological_process
GO:0071791 chemokine (C-C motif) lig
and 5 binding
 IPI molecular_function
GO:0000165 MAPK cascade
 IEP biological_process
GO:0001618 virus receptor activity
 IEA molecular_function
GO:0002407 dendritic cell chemotaxis
 TAS biological_process
GO:0003779 actin binding
 IDA molecular_function
GO:0004435 phosphatidylinositol phos
pholipase C activity
 TAS molecular_function
GO:0004871 signal transducer activit
y
 IEA molecular_function
GO:0004930 G-protein coupled recepto
r activity
 IEA molecular_function
GO:0004930 G-protein coupled recepto
r activity
 IEA molecular_function
GO:0004950 chemokine receptor activi
ty
 IEA molecular_function
GO:0004950 chemokine receptor activi
ty
 TAS 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:0005737 cytoplasm
 TAS cellular_component
GO:0005768 endosome
 IDA cellular_component
GO:0005886 plasma membrane
 IEA cellular_component
GO:0005886 plasma membrane
 IEA cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005887 integral component of pla
sma membrane
 TAS cellular_component
GO:0006816 calcium ion transport
 IDA biological_process
GO:0006935 chemotaxis
 IEA biological_process
GO:0006935 chemotaxis
 TAS biological_process
GO:0006954 inflammatory response
 IEA biological_process
GO:0006954 inflammatory response
 TAS biological_process
GO:0006955 immune response
 IEA biological_process
GO:0006955 immune response
 TAS biological_process
GO:0006968 cellular defense response
 TAS biological_process
GO:0007165 signal transduction
 IEA biological_process
GO:0007166 cell surface receptor sig
naling pathway
 TAS biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
 IEA biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
 IEA biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
 TAS biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
 IMP biological_process
GO:0007204 positive regulation of cy
tosolic calcium ion conce
ntration
 TAS biological_process
GO:0007267 cell-cell signaling
 IDA biological_process
GO:0009897 external side of plasma m
embrane
 IDA cellular_component
GO:0009897 external side of plasma m
embrane
 IDA cellular_component
GO:0009897 external side of plasma m
embrane
 IDA cellular_component
GO:0009986 cell surface
 IDA cellular_component
GO:0014808 release of sequestered ca
lcium ion into cytosol by
sarcoplasmic reticulum
 IDA biological_process
GO:0015026 coreceptor activity
 TAS molecular_function
GO:0016020 membrane
 IEA cellular_component
GO:0016021 integral component of mem
brane
 IEA cellular_component
GO:0016021 integral component of mem
brane
 IEA cellular_component
GO:0016032 viral process
 IEA biological_process
GO:0016493 C-C chemokine receptor ac
tivity
 IEA molecular_function
GO:0016493 C-C chemokine receptor ac
tivity
 IDA molecular_function
GO:0016493 C-C chemokine receptor ac
tivity
 NAS molecular_function
GO:0019064 fusion of virus membrane
with host plasma membrane
 TAS biological_process
GO:0019722 calcium-mediated signalin
g
 IDA biological_process
GO:0019722 calcium-mediated signalin
g
 IDA biological_process
GO:0019957 C-C chemokine binding
 IPI molecular_function
GO:0019957 C-C chemokine binding
 IPI molecular_function
GO:0023052 signaling
 IEP biological_process
GO:0030260 entry into host cell
 TAS biological_process
GO:0070098 chemokine-mediated signal
ing pathway
 IEA biological_process
GO:0070723 response to cholesterol
 IMP biological_process
GO:0071222 cellular response to lipo
polysaccharide
 IEP biological_process
GO:0071791 chemokine (C-C motif) lig
and 5 binding
 IPI molecular_function
GO:0000165 MAPK cascade
 IEP biological_process
GO:0002407 dendritic cell chemotaxis
 TAS biological_process
GO:0003779 actin binding
 IDA molecular_function
GO:0004435 phosphatidylinositol phos
pholipase C activity
 TAS molecular_function
GO:0004950 chemokine receptor activi
ty
 TAS 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:0005737 cytoplasm
 TAS cellular_component
GO:0005768 endosome
 IDA cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005887 integral component of pla
sma membrane
 TAS cellular_component
GO:0006816 calcium ion transport
 IDA biological_process
GO:0006935 chemotaxis
 TAS biological_process
GO:0006954 inflammatory response
 TAS biological_process
GO:0006955 immune response
 TAS biological_process
GO:0006968 cellular defense response
 TAS biological_process
GO:0007166 cell surface receptor sig
naling pathway
 TAS biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
 TAS biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
 IMP biological_process
GO:0007204 positive regulation of cy
tosolic calcium ion conce
ntration
 TAS biological_process
GO:0007267 cell-cell signaling
 IDA biological_process
GO:0009897 external side of plasma m
embrane
 IDA cellular_component
GO:0009897 external side of plasma m
embrane
 IDA cellular_component
GO:0009897 external side of plasma m
embrane
 IDA cellular_component
GO:0009986 cell surface
 IDA cellular_component
GO:0014808 release of sequestered ca
lcium ion into cytosol by
sarcoplasmic reticulum
 IDA biological_process
GO:0015026 coreceptor activity
 TAS molecular_function
GO:0016493 C-C chemokine receptor ac
tivity
 IDA molecular_function
GO:0016493 C-C chemokine receptor ac
tivity
 NAS molecular_function
GO:0019064 fusion of virus membrane
with host plasma membrane
 TAS biological_process
GO:0019722 calcium-mediated signalin
g
 IDA biological_process
GO:0019722 calcium-mediated signalin
g
 IDA biological_process
GO:0019957 C-C chemokine binding
 IPI molecular_function
GO:0019957 C-C chemokine binding
 IPI molecular_function
GO:0023052 signaling
 IEP biological_process
GO:0030260 entry into host cell
 TAS biological_process
GO:0070723 response to cholesterol
 IMP biological_process
GO:0071222 cellular response to lipo
polysaccharide
 IEP biological_process
GO:0071791 chemokine (C-C motif) lig
and 5 binding
 IPI molecular_function

KEGG pathways

hsa04060  Cytokine-cytokine receptor interaction
hsa05167  Kaposi's sarcoma-associated herpesvirus infection
hsa04062  Chemokine signaling pathway
hsa05145  Toxoplasmosis
hsa05203  Viral carcinogenesis
hsa04144  Endocytosis

Diseases

Associated diseases References
Addison's disease PMID: 15086346
AHG deficiency disease PMID: 14673528
Allergic rhinitis KEGG: H01360
Alzheimer's disease PMID: 15488313
Arthritis PMID: 12846056
Asthma PMID: 11175286
Behcet's disease PMID: 15009175
Biliary atresia PMID: 15004773
Cancer PMID: 18205260
Cholangitis PMID: 15215889
Chronic ulcerative colitis PMID: 11393656
Crohn's disease PMID: 11377705
Diabetes PMID: 15135805
Endometriosis PMID: 14981141
Glomerulonephritis PMID: 15610230
Inflammatory bowel disease PMID: 11354628
Male infertility PMID: 16873132
Mucocutaneous lymph node syndrome PMID: 17672867
Multiple sclerosis PMID: 16872485
Myasthenia gravis PMID: 14533004
Nephropathy PMID: 11756347
Periodontitis PMID: 16512757
Polymyalgia rheumatica PMID: 11781692
Restenosis PMID: 12082592
Rheumatoid arthritis PMID: 10323455
Sarcoidosis PMID: 15976369
Schizophrenia PMID: 16513874
Sickle cell anemia PMID: 12532229
Sjogren's syndrome PMID: 12412204
Female infertility INFBASE11160842
Endometriosis INFBASE11160842
Systemic lupus erythematosus PMID: 12913933
Wegener granulomatosis PMID: 12858455

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
11160842 Endometrio
sis

Female infertility RANTES receptors
CCR-1 and CCR-5
 Show abstract