Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 30816
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol ERVW-1   Gene   UCSC   Ensembl
Aliases ENV, ENVW, ERVWE1, HERV-7q, HERV-W-ENV, HERV7Q, HERVW, HERVWENV
Gene name endogenous retrovirus group W member 1, envelope
Alternate names syncytin-1, HERV-7q envelope protein, HERV-W Env glycoprotein, HERV-W envelope protein, HERV-W_7q21.2 provirus ancestral Env polyprotein, HERV-tryptophan envelope protein, endogenous retroviral family W, env(C7), member 1, endogenous retrovirus group W member 1, ,
Gene location 7q21.2 (58331317: 58331231)     Exons: 1     NC_000017.11
Gene summary(Entrez) Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of an HERV provirus on chromosome 7 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene's protein product is expressed in the placental syncytiotrophoblast and is involved in fusion of the cytotrophoblast cells to form the syncytial layer of the placenta. The protein has the characteristics of a typical retroviral envelope protein, including a furin cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]
OMIM 604659

Protein Summary

Protein general information Q9UQF0  

Name: Syncytin 1 (Endogenous retrovirus group W member 1) (Env W) (Envelope polyprotein gPr73) (Enverin) (HERV 7q Envelope protein) (HERV W envelope protein) (HERV W_7q21.2 provirus ancestral Env polyprotein) (Syncytin) [Cleaved into: Surface protein (SU) (gp50

Length: 538  Mass: 59,866

Tissue specificity: Expressed at higher level in placental syncytiotrophoblast. Expressed at intermediate level in testis. Seems also to be found at low level in adrenal tissue, bone marrow, breast, colon, kidney, ovary, prostate, skin, spleen, thymus, th

Sequence MALPYHIFLFTVLLPSFTLTAPPPCRCMTSSSPYQEFLWRMQRPGNIDAPSYRSLSKGTPTFTAHTHMPRNCYHS
ATLCMHANTHYWTGKMINPSCPGGLGVTVCWTYFTQTGMSDGGGVQDQAREKHVKEVISQLTRVHGTSSPYKGLD
LSKLHETLRTHTRLVSLFNTTLTGLHEVSAQNPTNCWICLPLNFRPYVSIPVPEQWNNFSTEINTTSVLVGPLVS
NLEITHTSNLTCVKFSNTTYTTNSQCIRWVTPPTQIVCLPSGIFFVCGTSAYRCLNGSSESMCFLSFLVPPMTIY
TEQDLYSYVISKPRNKRVPILPFVIGAGVLGALGTGIGGITTSTQFYYKLSQELNGDMERVADSLVTLQDQLNSL
AAVVLQNRRALDLLTAERGGTCLFLGEECCYYVNQSGIVTEKVKEIRDRIQRRAEELRNTGPWGLLSQWMPWILP
FLGPLAAIILLLLFGPCIFNLLVNFVSSRIEAVKLQMEPKMQSKTKIYRRPLDRPASPRSDVNDIKGTPPEEISA
AQPLLRPNSAGSS
Structural information

Motifs
CXXC. {ECO:0000250}(186-189)
CX6CC. {ECO:0000250}.(397-405)
Interpro:  IPR018154

Pfam:  
PF00429
STRING:   ENSP00000419945;
Other Databases GeneCards:  ERVW-1;  Malacards:  ERVW-1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005886 plasma membrane
IEA cellular_component
GO:0006949 syncytium formation
IDA biological_process
GO:0009653 anatomical structure morp
hogenesis
TAS biological_process
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0019031 viral envelope
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0006949 syncytium formation
IDA biological_process
GO:0009653 anatomical structure morp
hogenesis
TAS biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0019012 virion
IEA cellular_component
GO:0019012 virion
IEA cellular_component
GO:0019031 viral envelope
IEA cellular_component
GO:0006949 syncytium formation
IDA biological_process
GO:0009653 anatomical structure morp
hogenesis
TAS biological_process

Diseases

Associated diseases References
Endometriosis PMID: 19903052
Endometriosis INFBASE23888948

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
23888948 Endometrio
sis


DNMT3B7
DNMT3B
syncytin-1
Show abstract
19903052 Endometrio
sis

42 patients (wi
th normal endom
etrium, postmen
opausal endomet
rium, EM, and e
ndometrial carc
inoma)
HERV-W syncytin
Show abstract