ERVV-1

Summary

ERVV-1 (endogenous retrovirus group V member 1, envelope, HGNC:26501) is a protein-coding gene on chromosome 19q13.41, encoding Endogenous retrovirus group V member 1 Env polyprotein (B6SEH8).

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 human chromosome 19 that has inactivating mutations in the gag and pol genes. The gene’s envelope protein is expressed in the human placenta but is truncated at its C-terminus.

Source: NCBI Gene 147664 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 57 total
• MANE Select transcript: NM_152473

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26501
Approved symbol	ERVV-1
Name	endogenous retrovirus group V member 1, envelope
Location	19q13.41
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32214, HERV-V1, ENVV1
Ensembl gene	ENSG00000269526
Ensembl biotype	protein_coding
Entrez	147664

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000602168

RefSeq mRNA: 1 — MANE Select: NM_152473 NM_152473

CCDS: CCDS59419

Canonical transcript exons

ENST00000602168 — 1 exons

Exon	Start	End
ENSE00003206330	53013921	53016123

Expression profiles

Bgee: expression breadth broad, 34 present calls, max score 64.80.

Top tissues by expression

222 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
gingival epithelium	UBERON:0001949	64.80	gold quality
placenta	UBERON:0001987	63.33	gold quality
secondary oocyte	CL:0000655	61.96	gold quality
lower lobe of lung	UBERON:0008949	59.13	silver quality
buccal mucosa cell	CL:0002336	58.58	gold quality
gingiva	UBERON:0001828	58.08	gold quality
pigmented layer of retina	UBERON:0001782	57.37	gold quality
cartilage tissue	UBERON:0002418	56.77	gold quality
cerebellar cortex	UBERON:0002129	56.54	gold quality
cerebellar hemisphere	UBERON:0002245	56.50	gold quality
cerebellum	UBERON:0002037	55.99	gold quality
jejunal mucosa	UBERON:0000399	55.77	gold quality
endothelial cell	CL:0000115	55.75	gold quality
right hemisphere of cerebellum	UBERON:0014890	55.56	gold quality
cauda epididymis	UBERON:0004360	50.49	gold quality
caput epididymis	UBERON:0004358	50.46	gold quality
jejunum	UBERON:0002115	48.67	gold quality
adult organism	UBERON:0007023	48.35	gold quality
upper leg skin	UBERON:0004262	47.45	silver quality
mammalian vulva	UBERON:0000997	47.44	gold quality
corpus epididymis	UBERON:0004359	46.98	gold quality
bronchial epithelial cell	CL:0002328	46.61	gold quality
bronchus	UBERON:0002185	46.29	gold quality
deltoid	UBERON:0001476	45.79	gold quality
colonic epithelium	UBERON:0000397	45.64	gold quality
metanephros	UBERON:0000081	45.54	gold quality
vagina	UBERON:0000996	44.26	gold quality
oocyte	CL:0000023	44.10	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
metanephros cortex	UBERON:0010533	42.80	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-3929	yes	101.93
E-ANND-3	no	1.64

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

33 targeting ERVV-1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-9718	99.94	68.91	918
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-1296-3P	99.72	64.04	636
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-7154-5P	99.69	70.52	1900
HSA-MIR-6892-3P	99.68	66.40	1178
HSA-MIR-3934-5P	99.67	64.04	846
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-103A-1-5P	99.39	67.78	1545
HSA-MIR-103A-2-5P	99.39	67.72	1577
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-4744	99.01	69.91	1581
HSA-MIR-224-3P	98.91	68.42	1815
HSA-MIR-522-3P	98.91	68.56	1817
HSA-MIR-3922-5P	98.77	66.53	1059
HSA-MIR-5089-5P	98.45	66.06	1388
HSA-MIR-628-5P	98.36	67.74	844
HSA-MIR-3179	98.22	65.90	1445
HSA-MIR-3652	97.71	65.43	1890
HSA-MIR-4430	97.47	65.61	1813

Literature-anchored findings (GeneRIF, showing 1)

• In the Old World monkeys, we show that envV is both specifically expressed at the level of the placental syncytiotrophoblast and fusogenic. (PMID:23555306)

Cross-species orthologs

0 orthologs

Paralogs (7): ERV3-1 (ENSG00000213462), ERVMER34-1 (ENSG00000226887), ERVW-1 (ENSG00000242950), ERVFRD-1 (ENSG00000244476), ERVV-2 (ENSG00000268964), (ENSG00000293569), (ENSG00000293570)

Protein

Protein identifiers

Endogenous retrovirus group V member 1 Env polyprotein — B6SEH8 (reviewed: B6SEH8)

Alternative names: HERV-V_19q13.41 provirus ancestral Env polyprotein 1

All UniProt accessions (2): B6SEH8, M9QQA5

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Tissue specificity. Expressed in placenta.

Similarity. Belongs to the gamma type-C retroviral envelope protein family.

RefSeq proteins (1): NP_689686* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018154	TLV/ENV_coat_polyprotein	Family

Pfam: PF00429

UniProt features (6 total): topological domain 2, signal peptide 1, chain 1, transmembrane region 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-B6SEH8-F1	42.29	0.00

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (1): 68

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 9 (showing top): MIR4795_3P, MIR6778_3P, MIR103A_2_5P, MIR103A_1_5P, MIR4425, GSE13485_DAY1_VS_DAY7_YF17D_VACCINE_PBMC_UP, BDP1_TARGET_GENES, chr19q13, GSE21678_WT_VS_FOXO1_FOXO3_KO_TREG_DN

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

374 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ERVV-1	ERVMER34-1	Q9H9K5	640
ERVV-1	ITIH4	Q14624	544
ERVV-1	XAGE2	Q96GT9	448
ERVV-1	ZNF681	Q96N22	438
ERVV-1	GCM1	Q9NP62	412
ERVV-1	ZNF273	Q14593	398
ERVV-1	A0A0U1RQV1	A0A0U1RQV1	397
ERVV-1	CGB5	P01233	378
ERVV-1	ZNF92	Q03936	356
ERVV-1	MFSD2A	Q8NA29	353
ERVV-1	A0A0B4J2G0	A0A0B4J2G0	329
ERVV-1	EMB	Q6PCB8	327
ERVV-1	CD4	P01730	322
ERVV-1	CCR5	P51681	321
ERVV-1	LGALS14	Q8TCE9	313

IntAct

0 interactions, top by confidence:

BioGRID (1): ERVV-1 (Two-hybrid)

ESM2 similar proteins: B6SEH8, B6SEH9, J7HBH4, O42043, O92955, P03380, P03381, P03383, P03396, P07575, P0C212, P0DTM4, P14075, P21412, P23064, P25057, P25504, P25505, P25506, P25507, P31789, P31796, P51519, P60507, P60508, P60509, P60608, P61550, P61552, P61553, P61554, P61555, P61556, P61557, P61558, P61561, P61562, P61563, P61564, Q03816

Diamond homologs: B6SEH8, B6SEH9, P03385, P03399, P04502, P21415, P21436, P31796, P51515, P60508, P61550, P61553, P61554, P61556, P61557, P61561, P61562, P61563, Q5G5D5, Q8BI41, Q9TTC0, P08360, P11261, P11268, P11370, P15073, P31794, P60509, P61555, P61558, P61564, Q9N2K0, Q9UQF0, P03381, P03383, P03384, P03386, P03387, P03388, P03389

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

57 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	52
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

117 predictions. Top by Δscore:

Variant	Effect	Δscore
19:53015550:AG:A	acceptor_gain	0.9800
19:53015551:GG:G	acceptor_gain	0.9800
19:53015551:GGAT:G	acceptor_gain	0.9800
19:53015550:A:AG	acceptor_gain	0.9700
19:53015551:G:GG	acceptor_gain	0.9700
19:53014274:G:GG	donor_gain	0.9600
19:53015547:TCCA:T	acceptor_loss	0.9600
19:53015548:CCA:C	acceptor_loss	0.9600
19:53015549:CA:C	acceptor_loss	0.9600
19:53014271:TTGGT:T	donor_loss	0.9300
19:53014273:GGT:G	donor_loss	0.9300
19:53014274:GT:G	donor_loss	0.9300
19:53014275:T:G	donor_loss	0.9300
19:53015551:GGATA:G	acceptor_gain	0.9200
19:53014495:G:GT	donor_gain	0.8800
19:53014661:C:G	donor_gain	0.8800
19:53014250:TCCTC:T	donor_gain	0.8600
19:53015543:CTCTT:C	acceptor_loss	0.8600
19:53015544:TCTTC:T	acceptor_loss	0.8600
19:53015545:CTTCC:C	acceptor_loss	0.8600
19:53014654:A:T	donor_gain	0.8200
19:53015551:GGA:G	acceptor_gain	0.8200
19:53013973:G:GT	donor_gain	0.8100
19:53014649:G:GT	donor_gain	0.7900
19:53014251:C:A	donor_gain	0.7800
19:53014653:G:GT	donor_gain	0.7700
19:53014649:G:T	donor_gain	0.7600
19:53014269:TTTTG:T	donor_gain	0.7500
19:53014673:A:T	donor_gain	0.7500
19:53013982:A:G	donor_gain	0.7400

AlphaMissense

3109 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:53014976:T:A	C296S	0.998
19:53014977:G:C	C296S	0.998
19:53014857:T:G	F256C	0.997
19:53014976:T:C	C296R	0.997
19:53014648:G:C	W186C	0.996
19:53014648:G:T	W186C	0.996
19:53014862:T:A	C258S	0.996
19:53014863:G:C	C258S	0.996
19:53014786:G:C	W232C	0.995
19:53014786:G:T	W232C	0.995
19:53014856:T:C	F256L	0.995
19:53014857:T:C	F256S	0.995
19:53014858:T:A	F256L	0.995
19:53014858:T:G	F256L	0.995
19:53014672:G:C	W194C	0.994
19:53014672:G:T	W194C	0.994
19:53014978:T:G	C296W	0.994
19:53014585:G:C	W165C	0.992
19:53014585:G:T	W165C	0.992
19:53014863:G:A	C258Y	0.992
19:53014946:T:A	C286S	0.992
19:53014947:G:C	C286S	0.992
19:53014807:G:C	W239C	0.991
19:53014807:G:T	W239C	0.991
19:53014837:T:G	C249W	0.991
19:53014862:T:C	C258R	0.991
19:53014864:T:G	C258W	0.991
19:53014948:C:G	C286W	0.991
19:53014977:G:A	C296Y	0.991
19:53014835:T:A	C249S	0.990

dbSNP variants (sampled 300 via entrez): RS1002515284 (19:53013250 C>T), RS1002559398 (19:53013937 C>A), RS1003828818 (19:53015771 G>A,T), RS1004032168 (19:53013910 G>A), RS1004085956 (19:53014063 T>C), RS1004548060 (19:53012296 G>C), RS1004599108 (19:53012571 A>T), RS1005644672 (19:53015233 C>A), RS1005696990 (19:53015395 A>C), RS1005980275 (19:53016387 C>T), RS1006277746 (19:53013704 C>T), RS1006991729 (19:53015741 A>C,G), RS1008288153 (19:53016465 A>G), RS1008294900 (19:53016618 T>C), RS1009048716 (19:53012733 T>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
ethyl-p-hydroxybenzoate	decreases expression	1
Cadmium	increases abundance, increases expression	1
Cadmium Chloride	increases abundance, increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.