ERVW-1 (endogenous retrovirus group W member 1, envelope)

Gene
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
30816
Gene name Gene Name - the full gene name approved by the HGNC.
Endogenous retrovirus group W member 1, envelope
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ERVW-1
Synonyms (NCBI Gene) Gene synonyms aliases
ENV, ENVW, ERVWE1, HERV-7q, HERV-W-ENV, HERV7Q, HERVW, HERVWENV
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 inactivati
Transcription factors
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
Transcription factor Regulation Reference
GATA2 Activation 15888734
GATA3 Activation 15888734
GCM1 Activation 19692500;24478419
SP1 Activation 15888734
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000768 Process Syncytium formation by plasma membrane fusion IBA 21873635
GO:0000768 Process Syncytium formation by plasma membrane fusion IDA 14557543
GO:0005886 Component Plasma membrane IEA
GO:0006949 Process Syncytium formation IDA 23492904
GO:0007520 Process Myoblast fusion IMP 27589388
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604659 13525 ENSG00000242950
Protein
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9UQF0
Protein 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
Protein function This endogenous retroviral envelope protein has retained its original fusogenic properties and participates in trophoblast fusion and the formation of a syncytium during placenta morphogenesis. May induce fusion through binding of SLC1A4 and SLC
PDB 5HA6 , 6RX1 , 8OUH , 8OUJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00429 TLV_coat 56 → 477 ENV polyprotein (coat polyprotein) Family
Tissue specificity 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
Sequence length 538
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)		 23212585, 17559415