ERVH48-1 (endogenous retrovirus group 48 member 1, envelope)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 90625
Gene name Endogenous retrovirus group 48 member 1, envelope
Gene symbol ERVH48-1
Synonyms (NCBI Gene)
C21orf105HERV-Fb1NDUFV3-AS1SUPYN
Chromosome 21
Chromosome location 21q22.3
Summary Many different endogenous retrovirus families are expressed in normal placental tissue at high levels, suggesting that endogenous retroviruses are functionally important in reproduction. This gene is part of an endogenous retrovirus provirus that has plac
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (5)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 23492904
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IDA 23492904
GO:0005886 Component Plasma membrane IDA 23492904
GO:0006949 Process Syncytium formation IMP 23492904
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
M5A8F1
Protein name Suppressyn (Endogenous retrovirus group 48 member 1) (NDUFV3 antisense RNA 1) (endogenous retrovirus group Fb member 1)
Protein function May play a role in trophoblasts syncytialization, the spontaneous fusion of their plasma membranes, an essential process in placental development. May negatively regulate cell-cell fusion by interacting with SLC1A5, the probable receptor on the
PDB 8OUI
Family and domains
Tissue specificity TISSUE SPECIFICITY: Specifically expressed in placenta by extravillous trophoblasts and syncytiotrophoblasts (at protein level). {ECO:0000269|PubMed:23492904}.
Sequence 
MACIYPTTFYTSLPTKSLNMGISLTTILILSVAVLLSTAAPPSCRECYQSLHYRGEMQQY
FTYHTHIERSCYGNLIEECVESGKSYYKVKNLGVCGSRNGAICPRGKQWLCFTKIGQWGV
NTQVLEDIKREQIIAKAKASKPTTPPENRPRHFHSFIQKL
Sequence length 160
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
SCHIZOPHRENIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Down Syndrome Down Syndrome BEFREE 17186567, 18223136
★★★★★
★☆☆☆☆
Found in Text Mining only
Squamous cell carcinoma of lung Lung carcinoma BEFREE 31576252
★★★★★
★☆☆☆☆
Found in Text Mining only
Squamous cell carcinoma of tongue Tongue carcinoma BEFREE 30755833
★★★★★
★☆☆☆☆
Found in Text Mining only