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Q14264

- ENR1_HUMAN

UniProt

Q14264 - ENR1_HUMAN

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Protein
HERV-R_7q21.2 provirus ancestral Env polyprotein
Gene
ERV3-1, ERV3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its fusogenic properties. It can inhibit cell growth through decrease expression of cyclin B1 and increased expression of p21 in vitro.3 Publications
SU mediates receptor recognition By similarity.3 Publications
TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane By similarity.3 Publications

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei471 – 4722Cleavage By similarity

Names & Taxonomyi

Protein namesi
Recommended name:
HERV-R_7q21.2 provirus ancestral Env polyprotein
Alternative name(s):
ERV-3 envelope protein
Short name:
ERV3 envelope protein
ERV3-1 envelope protein
Envelope polyprotein
HERV-R envelope protein
Short name:
ERV-R envelope protein
Cleaved into the following 2 chains:
Surface protein
Short name:
SU
Transmembrane protein
Short name:
TM
Gene namesi
Name:ERV3-1
Synonyms:ERV3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:3454. ERV3-1.

Subcellular locationi

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
  2. viral envelope Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Viral envelope protein, Virion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27866.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222 Reviewed prediction
Add
BLAST
Chaini23 – 604582HERV-R_7q21.2 provirus ancestral Env polyprotein
PRO_0000008477Add
BLAST
Chaini23 – 471449Surface protein By similarity
PRO_0000008478Add
BLAST
Chaini472 – 604133Transmembrane protein By similarity
PRO_0000008479Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi64 – 641N-linked (GlcNAc...) Reviewed prediction
Glycosylationi105 – 1051N-linked (GlcNAc...) Reviewed prediction
Glycosylationi201 – 2011N-linked (GlcNAc...) Reviewed prediction
Glycosylationi316 – 3161N-linked (GlcNAc...) Reviewed prediction
Glycosylationi369 – 3691N-linked (GlcNAc...) Reviewed prediction
Glycosylationi382 – 3821N-linked (GlcNAc...) Reviewed prediction
Glycosylationi399 – 3991N-linked (GlcNAc...) Reviewed prediction
Glycosylationi527 – 5271N-linked (GlcNAc...) Reviewed prediction
Glycosylationi569 – 5691N-linked (GlcNAc...) Reviewed prediction

Post-translational modificationi

Specific enzymatic cleavages in vivo yield the mature SU and TM proteins By similarity. Has been mainly detected in vivo as an 65 kDa unprocessed polyprotein precursor.
The CXXC motif is highly conserved across a broad range of retroviral envelope proteins. It is thought to participate in the formation of a labile disulfide bond possibly with the CX6CC motif present in the transmembrane protein. Isomerization of the intersubunit disulfide bond to an SU intrachain disulfide bond is thought to occur upon receptor recognition in order to allow membrane fusion By similarity.

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ14264.
PeptideAtlasiQ14264.
PRIDEiQ14264.

PTM databases

PhosphoSiteiQ14264.

Expressioni

Tissue specificityi

Expressed at higher level in adrenal, sebaceous glands and placenta. Expressed at lower level in bone marrow, brain, breast, colon, heart, kidney, liver, lung, ovary, PBL, prostate, skin, spleen, testis, thymus, thyroid, trachea.1 Publication

Developmental stagei

Highly expressed in primitive adrenal cortex and placenta. Expressed at lower level in developing nervous tissues, tongue, heart, gut, kidney, columna vertebralis and liver.1 Publication

Gene expression databases

BgeeiQ14264.
CleanExiHS_ERV3.
GenevestigatoriQ14264.

Organism-specific databases

HPAiHPA017209.

Interactioni

Subunit structurei

The surface (SU) and transmembrane (TM) proteins form a heterodimer. SU and TM are attached by non-covalent interactions or by a labile interchain disulfide bond By similarity.

Protein-protein interaction databases

BioGridi108395. 1 interaction.
STRINGi9606.ENSP00000391594.

Structurei

3D structure databases

ProteinModelPortaliQ14264.
SMRiQ14264. Positions 489-594.

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi165 – 1684CXXC By similarity
Motifi548 – 56417CKS-17 By similarity
Add
BLAST
Motifi565 – 57410CX6CC By similarity

Domaini

Contains the CKS-17 immunosuppressive domain present in many retroviral envelope proteins. As a synthetic peptide, it inhibits immune function in vitro and in vivo (By similarity).

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG126753.
HOGENOMiHOG000112377.
HOVERGENiHBG048920.
OMAiWEARELM.
OrthoDBiEOG7W6WK7.
PhylomeDBiQ14264.

Family and domain databases

InterProiIPR018154. TLV/ENV_coat_polyprotein.
[Graphical view]
PANTHERiPTHR10424. PTHR10424. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q14264-1 [UniParc]FASTAAdd to Basket

« Hide

MLGMNMLLIT LFLLLPLSML KGEPWEGCLH CTHTTWSGNI MTKTLLYHTY    50
YECAGTCLGT CTHNQTTYSV CDPGRGQPYV CYDPKSSPGT WFEIHVGSKE 100
GDLLNQTKVF PSGKDVVSLY FDVCQIVSMG SLFPVIFSSM EYYSSCHKNR 150
YAHPACSTDS PVTTCWDCTT WSTNQQSLGP IMLTKIPLEP DCKTSTCNSV 200
NLTILEPDQP IWTTGLKAPL GARVSGEEIG PGAYVYLYII KKTRTRSTQQ 250
FRVFESFYEH VNQKLPEPPP LASNLFAQLA ENIASSLHVA SCYVCGGMNM 300
GDQWPWEARE LMPQDNFTLT ASSLEPAPSS QSIWFLKTSI IGKFCIARWG 350
KAFTDPVGEL TCLGQQYYNE TLGKTLWRGK SNNSESPHPS PFSRFPSLNH 400
SWYQLEAPNT WQAPSGLYWI CGPQAYRQLP AKWSGACVLG TIRPSFFLMP 450
LKQGEALGYP IYDETKRKSK RGITIGDWKD NEWPPERIIQ YYGPATWAED 500
GMWGYRTPVY MLNRIIRLQA VLEIITNETA GALNLLAQQA TKMRNVIYQN 550
RLALDYLLAQ EEGVCGKFNL TNCCLELDDE GKVIKEITAK IQKLAHIPVQ 600
TWKG 604
Length:604
Mass (Da):67,942
Last modified:March 1, 2004 - v2
Checksum:iC426D9193857D4BD
GO

Polymorphismi

This envelope gene is polymorphic with at least five different alleles. A mutation introducing a premature stop codon instead of amino acid 223 is present in approximately 1% of the Caucasian population.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti90 – 901T → I.2 Publications
Corresponds to variant rs6460219 [ dbSNP | Ensembl ].
VAR_017801
Natural varianti192 – 1921C → Y.2 Publications
Corresponds to variant rs34639489 [ dbSNP | Ensembl ].
VAR_017802
Natural varianti236 – 2361Y → C.2 Publications
Corresponds to variant rs71539632 [ dbSNP | Ensembl ].
VAR_017803
Natural varianti481 – 4811N → S.2 Publications
Corresponds to variant rs4618579 [ dbSNP | Ensembl ].
VAR_017804
Natural varianti522 – 5221L → P.1 Publication
VAR_017805
Natural varianti569 – 5691N → S.3 Publications
Corresponds to variant rs4717229 [ dbSNP | Ensembl ].
VAR_017806

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti218 – 2181A → T in AAA88027. 1 Publication
Sequence conflicti226 – 2261G → D in AAA88027. 1 Publication
Sequence conflicti251 – 2511F → L in AAA88027. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC073210 Genomic DNA. No translation available.
M12140 Genomic DNA. Translation: AAA88027.1.
CCDSiCCDS47595.1.
RefSeqiNP_001007254.2. NM_001007253.3.
UniGeneiHs.250693.

Genome annotation databases

EnsembliENST00000394323; ENSP00000391594; ENSG00000213462.
GeneIDi2086.
KEGGihsa:2086.
UCSCiuc011kdr.2. human.

Polymorphism databases

DMDMi44887883.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Human Endogenous Retrovirus Database (HERVd)

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC073210 Genomic DNA. No translation available.
M12140 Genomic DNA. Translation: AAA88027.1 .
CCDSi CCDS47595.1.
RefSeqi NP_001007254.2. NM_001007253.3.
UniGenei Hs.250693.

3D structure databases

ProteinModelPortali Q14264.
SMRi Q14264. Positions 489-594.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108395. 1 interaction.
STRINGi 9606.ENSP00000391594.

PTM databases

PhosphoSitei Q14264.

Polymorphism databases

DMDMi 44887883.

Proteomic databases

PaxDbi Q14264.
PeptideAtlasi Q14264.
PRIDEi Q14264.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000394323 ; ENSP00000391594 ; ENSG00000213462 .
GeneIDi 2086.
KEGGi hsa:2086.
UCSCi uc011kdr.2. human.

Organism-specific databases

CTDi 2086.
GeneCardsi GC07M064451.
HGNCi HGNC:3454. ERV3-1.
HPAi HPA017209.
neXtProti NX_Q14264.
PharmGKBi PA27866.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG126753.
HOGENOMi HOG000112377.
HOVERGENi HBG048920.
OMAi WEARELM.
OrthoDBi EOG7W6WK7.
PhylomeDBi Q14264.

Miscellaneous databases

GeneWikii ERV3.
NextBioi 8469.
PROi Q14264.

Gene expression databases

Bgeei Q14264.
CleanExi HS_ERV3.
Genevestigatori Q14264.

Family and domain databases

InterProi IPR018154. TLV/ENV_coat_polyprotein.
[Graphical view ]
PANTHERi PTHR10424. PTHR10424. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "The nucleotide sequence of the env gene from the human provirus ERV3 and isolation and characterization of an ERV3-specific cDNA."
    Cohen M., Powers M., O'Connell C., Kato N.
    Virology 147:449-458(1985) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 41-604, VARIANTS ILE-90; SER-481 AND SER-569.
  3. "Abundance of an endogenous retroviral envelope protein in placental trophoblasts suggests a biological function."
    Venables P.J.W., Brookes S.M., Griffiths D., Weiss R.A., Boyd M.T.
    Virology 211:589-592(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  4. "The cellular mechanism by which the human endogenous retrovirus ERV-3 env gene affects proliferation and differentiation in a human placental trophoblast model, BeWo."
    Lin L., Xu B., Rote N.S.
    Placenta 21:73-78(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  5. "Genomewide screening for fusogenic human endogenous retrovirus envelopes identifies syncytin 2, a gene conserved on primate evolution."
    Blaise S., de Parseval N., Benit L., Heidmann T.
    Proc. Natl. Acad. Sci. U.S.A. 100:13013-13018(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  6. "Survey of human genes of retroviral origin: identification and transcriptome of the genes with coding capacity for complete envelope proteins."
    de Parseval N., Lazar V., Casella J.-F., Benit L., Heidmann T.
    J. Virol. 77:10414-10422(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  7. "Developmental expression of HERV-R (ERV3) and HERV-K in human tissue."
    Andersson A.-C., Venables P.J.W., Toenjes R.R., Scherer J., Eriksson L., Larsson E.
    Virology 297:220-225(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: DEVELOPMENTAL STAGE.
  8. "Physiological knockout of the envelope gene of the single-copy ERV-3 human endogenous retrovirus in a fraction of the Caucasian population."
    de Parseval N., Heidmann T.
    J. Virol. 72:3442-3445(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS TYR-192; CYS-236; PRO-522 AND SER-569.
  9. "Large number of polymorphic nucleotides and a termination codon in the env gene of the endogenous human retrovirus ERV3."
    Rasmussen H.B., Clausen J.
    Dis. Markers 14:127-133(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ILE-90; TYR-192; CYS-236; SER-481 AND SER-569.

Entry informationi

Entry nameiENR1_HUMAN
AccessioniPrimary (citable) accession number: Q14264
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: March 1, 2004
Last modified: September 3, 2014
This is version 107 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

HERV-R_7q21.2 genomic and subgenomic RNAs have been observed.
This provirus is intergenic, the closest flanking genes being ZNF117 and FLJ25037.

Caution

CKS-17 sequence does not match the minimal active consensus.
Truncated; premature stop codon upstream of the fusion peptide on TM.

Keywords - Technical termi

Complete proteome, ERV, Reference proteome, Transposable element

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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