MER34_HUMAN
ID MER34_HUMAN Reviewed; 563 AA.
AC Q9H9K5; B3KTB4; Q0P5R3; Q6NWN0;
DT 10-JUN-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 128.
DE RecName: Full=Endogenous retroviral envelope protein HEMO {ECO:0000305};
DE AltName: Full=Endogenous retrovirus group MER34 member 1 Env polyprotein {ECO:0000305};
DE AltName: Full=HERV-MER_4q12 provirus ancestral Env polyprotein;
DE AltName: Full=Human endogenous MER34 (medium-reiteration-frequency-family-34) open reading frame {ECO:0000303|PubMed:28739914};
DE AltName: Full=Human endogenous MER34 ORF {ECO:0000303|PubMed:28739914};
DE Short=HEMO {ECO:0000303|PubMed:28739914};
DE Contains:
DE RecName: Full=Endogenous retroviral envelope protein HEMO, secreted form {ECO:0000305};
DE AltName: Full=Endogenous retroviral envelope protein HEMO, 48 kDa form;
DE Flags: Precursor;
GN Name=ERVMER34-1 {ECO:0000312|HGNC:HGNC:42970};
GN Synonyms=HEMO {ECO:0000303|PubMed:28739914}; ORFNames=LP9056;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Tongue;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15498874; DOI=10.1073/pnas.0404089101;
RA Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X.,
RA Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.,
RA Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.;
RT "Large-scale cDNA transfection screening for genes related to cancer
RT development and progression.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY, SUBCELLULAR LOCATION, TISSUE
RP SPECIFICITY, GLYCOSYLATION, PROTEOLYTIC PROCESSING, AND MUTAGENESIS OF
RP 352-CYS--GLY-355; 433-ARG--LEU-563; 472-PRO--LEU-563 AND 489-SER--LEU-563.
RX PubMed=28739914; DOI=10.1073/pnas.1702204114;
RA Heidmann O., Beguin A., Paternina J., Berthier R., Deloger M., Bawa O.,
RA Heidmann T.;
RT "HEMO, an ancestral endogenous retroviral envelope protein shed in the
RT blood of pregnant women and expressed in pluripotent stem cells and
RT tumors.";
RL Proc. Natl. Acad. Sci. U.S.A. 114:E6642-E6651(2017).
CC -!- FUNCTION: Endogenous envelope proteins originate from retroviral
CC envelope proteins, which mediate receptor recognition and membrane
CC fusion during early infection. Endogenous envelope proteins may have
CC kept, lost or modified their original function during evolution.
CC {ECO:0000305}.
CC -!- SUBCELLULAR LOCATION: [Endogenous retroviral envelope protein HEMO]:
CC Cell membrane {ECO:0000269|PubMed:28739914}; Single-pass type I
CC membrane protein {ECO:0000255}. Note=This uncleaved form present at the
CC cell surface represents the major form (PubMed:28739914).
CC {ECO:0000269|PubMed:28739914}.
CC -!- SUBCELLULAR LOCATION: [Endogenous retroviral envelope protein HEMO,
CC secreted form]: Secreted {ECO:0000269|PubMed:28739914}. Note=This
CC secreted form, which is released in the extracellular medium following
CC cleavage, constitutes a minor form (PubMed:28739914).
CC {ECO:0000269|PubMed:28739914}.
CC -!- TISSUE SPECIFICITY: Expressed at high level in the placenta and stem
CC cells (at protein level) (PubMed:28739914). Also expressed in the
CC kidney but at a lower level (PubMed:28739914). Endogenous retroviral
CC envelope protein HEMO, secreted form: Present in the blood of pregnant
CC women (at protein level) (PubMed:28739914).
CC {ECO:0000269|PubMed:28739914}.
CC -!- PTM: N-glycosylated. {ECO:0000269|PubMed:28739914}.
CC -!- PTM: [Endogenous retroviral envelope protein HEMO]: Cleaved by some
CC metalloproteinase at 432-Gln-Arg-433 (mainly) or 433-Arg-Gln-434,
CC leading to release the secreted form (Endogenous retroviral envelope
CC protein HEMO, secreted form) in the extracellular medium.
CC {ECO:0000269|PubMed:28739914}.
CC -!- SIMILARITY: Belongs to the gamma type-C retroviral envelope protein
CC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH69998.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AY189288; AAO86732.1; -; mRNA.
DR EMBL; AK022746; BAB14220.1; -; mRNA.
DR EMBL; AK095318; BAG53026.1; -; mRNA.
DR EMBL; CH471057; EAX05439.1; -; Genomic_DNA.
DR EMBL; BC067526; AAH67526.1; -; mRNA.
DR EMBL; BC067528; AAH67528.1; -; mRNA.
DR EMBL; BC067529; AAH67529.1; -; mRNA.
DR EMBL; BC069998; AAH69998.1; ALT_FRAME; mRNA.
DR RefSeq; NP_001229619.1; NM_001242690.1.
DR RefSeq; NP_078810.1; NM_024534.5.
DR AlphaFoldDB; Q9H9K5; -.
DR BioGRID; 940070; 19.
DR STRING; 9606.ENSP00000460602; -.
DR GlyGen; Q9H9K5; 8 sites.
DR iPTMnet; Q9H9K5; -.
DR PhosphoSitePlus; Q9H9K5; -.
DR BioMuta; ERVMER34-1; -.
DR DMDM; 74734033; -.
DR EPD; Q9H9K5; -.
DR MassIVE; Q9H9K5; -.
DR PaxDb; Q9H9K5; -.
DR PeptideAtlas; Q9H9K5; -.
DR PRIDE; Q9H9K5; -.
DR ProteomicsDB; 81327; -.
DR TopDownProteomics; Q9H9K5; -.
DR Antibodypedia; 63827; 4 antibodies from 4 providers.
DR DNASU; 100288413; -.
DR Ensembl; ENST00000440542.1; ENSP00000460255.1; ENSG00000226887.8.
DR Ensembl; ENST00000443173.6; ENSP00000460602.1; ENSG00000226887.8.
DR GeneID; 100288413; -.
DR KEGG; hsa:100288413; -.
DR MANE-Select; ENST00000443173.6; ENSP00000460602.1; NM_001242690.2; NP_001229619.1.
DR UCSC; uc003gzr.4; human.
DR CTD; 100288413; -.
DR DisGeNET; 100288413; -.
DR GeneCards; ERVMER34-1; -.
DR HGNC; HGNC:42970; ERVMER34-1.
DR HPA; ENSG00000226887; Tissue enhanced (parathyroid gland, placenta).
DR neXtProt; NX_Q9H9K5; -.
DR OpenTargets; ENSG00000226887; -.
DR VEuPathDB; HostDB:ENSG00000226887; -.
DR eggNOG; ENOG502SD08; Eukaryota.
DR GeneTree; ENSGT00870000136875; -.
DR HOGENOM; CLU_483911_0_0_1; -.
DR InParanoid; Q9H9K5; -.
DR OMA; RCADANI; -.
DR OrthoDB; 389221at2759; -.
DR PhylomeDB; Q9H9K5; -.
DR TreeFam; TF344098; -.
DR PathwayCommons; Q9H9K5; -.
DR BioGRID-ORCS; 100288413; 8 hits in 243 CRISPR screens.
DR ChiTaRS; ERVMER34-1; human.
DR GenomeRNAi; 100288413; -.
DR Pharos; Q9H9K5; Tdark.
DR PRO; PR:Q9H9K5; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q9H9K5; protein.
DR Bgee; ENSG00000226887; Expressed in placenta and 95 other tissues.
DR Genevisible; Q9H9K5; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR InterPro; IPR018154; TLV/ENV_coat_polyprotein.
DR PANTHER; PTHR10424; PTHR10424; 1.
PE 1: Evidence at protein level;
KW Cell membrane; ERV; Glycoprotein; Membrane; Reference proteome; Secreted;
KW Signal; Transmembrane; Transmembrane helix; Transposable element.
FT SIGNAL 1..26
FT /evidence="ECO:0000269|PubMed:28739914"
FT CHAIN 27..563
FT /note="Endogenous retroviral envelope protein HEMO"
FT /id="PRO_0000341352"
FT CHAIN 27..432
FT /note="Endogenous retroviral envelope protein HEMO,
FT secreted form"
FT /evidence="ECO:0000305|PubMed:28739914"
FT /id="PRO_0000443800"
FT TOPO_DOM 27..488
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 489..509
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 510..563
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT CARBOHYD 122
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 192
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT MUTAGEN 352..355
FT /note="CTQG->RTKR: Introduction of a furin cleavage site,
FT promoting proteolytic cleavage of the protein by furin and
FT release in the extracellular medium."
FT /evidence="ECO:0000269|PubMed:28739914"
FT MUTAGEN 433..563
FT /note="Missing: Promotes release in the extracellular
FT medium."
FT /evidence="ECO:0000269|PubMed:28739914"
FT MUTAGEN 472..563
FT /note="Missing: Promotes release in the extracellular
FT medium."
FT /evidence="ECO:0000269|PubMed:28739914"
FT MUTAGEN 489..563
FT /note="Missing: Promotes release in the extracellular
FT medium."
FT /evidence="ECO:0000269|PubMed:28739914"
FT CONFLICT 34
FT /note="T -> A (in Ref. 4; AAH69998)"
FT /evidence="ECO:0000305"
FT CONFLICT 81
FT /note="W -> R (in Ref. 4; AAH67529)"
FT /evidence="ECO:0000305"
FT CONFLICT 418
FT /note="S -> P (in Ref. 4; AAH67529)"
FT /evidence="ECO:0000305"
FT CONFLICT 434
FT /note="Q -> R (in Ref. 4; AAH67529)"
FT /evidence="ECO:0000305"
FT CONFLICT 459
FT /note="Q -> H (in Ref. 4; AAH69998)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 563 AA; 63547 MW; D8D0B75216FDF8B7 CRC64;
MGSLSNYALL QLTLTAFLTI LVQPQHLLAP VFRTLSILTN QSNCWLCEHL DNAEQPELVF
VPASASTWWT YSGQWMYERV WYPQAEVQNH STSSYRKVTW HWEASMEAQG LSFAQVRLLE
GNFSLCVENK NGSGPFLGNI PKQYCNQILW FDSTDGTFMP SIDVTNESRN DDDDTSVCLG
TRQCSWFAGC TNRTWNSSAV PLIGLPNTQD YKWVDRNSGL TWSGNDTCLY SCQNQTKGLL
YQLFRNLFCS YGLTEAHGKW RCADASITND KGHDGHRTPT WWLTGSNLTL SVNNSGLFFL
CGNGVYKGFP PKWSGRCGLG YLVPSLTRYL TLNASQITNL RSFIHKVTPH RCTQGDTDNP
PLYCNPKDNS TIRALFPSLG TYDLEKAILN ISKAMEQEFS ATKQTLEAHQ SKVSSLASAS
RKDHVLDIPT TQRQTACGTV GKQCCLYINY SEEIKSNIQR LHEASENLKN VPLLDWQGIF
AKVGDWFRSW GYVLLIVLFC LFIFVLIYVR VFRKSRRSLN SQPLNLALSP QQSAQLLVSE
TSCQVSNRAM KGLTTHQYDT SLL
