TMED7_HUMAN
ID TMED7_HUMAN Reviewed; 224 AA.
AC Q9Y3B3; Q8NBU8; Q8WUU6; Q96K51;
DT 24-JAN-2001, integrated into UniProtKB/Swiss-Prot.
DT 29-MAR-2005, sequence version 2.
DT 03-AUG-2022, entry version 181.
DE RecName: Full=Transmembrane emp24 domain-containing protein 7;
DE AltName: Full=p24 family protein gamma-3;
DE Short=p24gamma3;
DE AltName: Full=p27;
DE Flags: Precursor;
GN Name=TMED7; ORFNames=CGI-109;
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] (ISOFORM 1).
RX PubMed=10810093; DOI=10.1101/gr.10.5.703;
RA Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.;
RT "Identification of novel human genes evolutionarily conserved in
RT Caenorhabditis elegans by comparative proteomics.";
RL Genome Res. 10:703-713(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Placenta;
RX PubMed=16303743; DOI=10.1093/dnares/12.2.117;
RA Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J.,
RA Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S.,
RA Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.,
RA Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S.,
RA Isogai T.;
RT "Signal sequence and keyword trap in silico for selection of full-length
RT human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA
RT libraries.";
RL DNA Res. 12:117-126(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Uterus;
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 [6]
RP SUBCELLULAR LOCATION, GLYCOSYLATION, AND SUBUNIT.
RX PubMed=10359607; DOI=10.1091/mbc.10.6.1939;
RA Fullekrug J., Suganuma T., Tang B.L., Hong W., Storrie B., Nilsson T.;
RT "Localization and recycling of gp27 (hp24gamma3): complex formation with
RT other p24 family members.";
RL Mol. Biol. Cell 10:1939-1955(1999).
RN [7]
RP SUBCELLULAR LOCATION, AND SUBUNIT.
RX PubMed=12237308; DOI=10.1074/jbc.m206989200;
RA Jenne N., Frey K., Brugger B., Wieland F.T.;
RT "Oligomeric state and stoichiometry of p24 proteins in the early secretory
RT pathway.";
RL J. Biol. Chem. 277:46504-46511(2002).
RN [8]
RP INTERACTION WITH COPG1.
RX PubMed=16940185; DOI=10.1128/mcb.01055-06;
RA Bethune J., Kol M., Hoffmann J., Reckmann I., Brugger B., Wieland F.;
RT "Coatomer, the coat protein of COPI transport vesicles, discriminates
RT endoplasmic reticulum residents from p24 proteins.";
RL Mol. Cell. Biol. 26:8011-8021(2006).
CC -!- FUNCTION: Potential role in vesicular protein trafficking, mainly in
CC the early secretory pathway. Appears to play a role in the biosynthesis
CC of secreted cargo including processing and post-translational
CC modifications.
CC -!- SUBUNIT: Predominantly monomeric and to lesser extent homodimeric in
CC endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate
CC compartment and cis-Golgi network. Oligomerizes with other members of
CC the EMP24/GP25L family such as TMED2, TMED9 and TMED10. Interacts (via
CC C-terminus) with COPG1; the interaction involves dimeric TMED7.
CC {ECO:0000269|PubMed:10359607, ECO:0000269|PubMed:12237308,
CC ECO:0000269|PubMed:16940185}.
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type
CC I membrane protein. Golgi apparatus, cis-Golgi network membrane;
CC Single-pass type I membrane protein. Endoplasmic reticulum-Golgi
CC intermediate compartment membrane; Single-pass type I membrane protein.
CC Cytoplasmic vesicle, COPI-coated vesicle membrane {ECO:0000250};
CC Single-pass type I membrane protein {ECO:0000250}. Cytoplasmic vesicle,
CC COPII-coated vesicle membrane {ECO:0000250}; Single-pass type I
CC membrane protein {ECO:0000250}. Note=Cycles between compartments of the
CC early secretatory pathway.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9Y3B3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y3B3-2; Sequence=VSP_046247;
CC -!- PTM: N-linked glycosylated in complex form containing terminal sialic
CC acid. {ECO:0000269|PubMed:10359607}.
CC -!- SIMILARITY: Belongs to the EMP24/GP25L family. {ECO:0000305}.
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DR EMBL; AF151867; AAD34104.1; -; mRNA.
DR EMBL; AK027512; BAB55166.1; -; mRNA.
DR EMBL; AK074962; BAC11318.1; -; mRNA.
DR EMBL; AK075218; BAC11479.1; -; mRNA.
DR EMBL; AC010226; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC019349; AAH19349.1; -; mRNA.
DR CCDS; CCDS4120.1; -. [Q9Y3B3-1]
DR RefSeq; NP_001157941.1; NM_001164469.3. [Q9Y3B3-2]
DR RefSeq; NP_861974.1; NM_181836.5. [Q9Y3B3-1]
DR AlphaFoldDB; Q9Y3B3; -.
DR SMR; Q9Y3B3; -.
DR BioGRID; 119221; 78.
DR BioGRID; 970651; 5.
DR IntAct; Q9Y3B3; 28.
DR MINT; Q9Y3B3; -.
DR STRING; 9606.ENSP00000405926; -.
DR TCDB; 9.B.188.1.8; the transmembrane emp24 domain-containing protein (tmed) family.
DR GlyConnect; 1845; 5 N-Linked glycans (1 site).
DR GlyGen; Q9Y3B3; 2 sites, 5 N-linked glycans (1 site), 1 O-linked glycan (1 site).
DR iPTMnet; Q9Y3B3; -.
DR PhosphoSitePlus; Q9Y3B3; -.
DR SwissPalm; Q9Y3B3; -.
DR BioMuta; TMED7; -.
DR DMDM; 62299080; -.
DR EPD; Q9Y3B3; -.
DR jPOST; Q9Y3B3; -.
DR MassIVE; Q9Y3B3; -.
DR MaxQB; Q9Y3B3; -.
DR PaxDb; Q9Y3B3; -.
DR PeptideAtlas; Q9Y3B3; -.
DR PRIDE; Q9Y3B3; -.
DR ProteomicsDB; 86001; -. [Q9Y3B3-1]
DR TopDownProteomics; Q9Y3B3-1; -. [Q9Y3B3-1]
DR Antibodypedia; 2440; 22 antibodies from 13 providers.
DR DNASU; 51014; -.
DR Ensembl; ENST00000456936.4; ENSP00000405926.3; ENSG00000134970.14. [Q9Y3B3-1]
DR GeneID; 100302736; -.
DR GeneID; 51014; -.
DR KEGG; hsa:100302736; -.
DR KEGG; hsa:51014; -.
DR MANE-Select; ENST00000456936.4; ENSP00000405926.3; NM_181836.6; NP_861974.1.
DR UCSC; uc003krf.4; human. [Q9Y3B3-1]
DR CTD; 100302736; -.
DR CTD; 51014; -.
DR DisGeNET; 100302736; -.
DR DisGeNET; 51014; -.
DR GeneCards; TMED7; -.
DR HGNC; HGNC:24253; TMED7.
DR HPA; ENSG00000134970; Low tissue specificity.
DR neXtProt; NX_Q9Y3B3; -.
DR OpenTargets; ENSG00000134970; -.
DR OpenTargets; ENSG00000251201; -.
DR PharmGKB; PA134891536; -.
DR PharmGKB; PA165660570; -.
DR VEuPathDB; HostDB:ENSG00000134970; -.
DR eggNOG; KOG1693; Eukaryota.
DR GeneTree; ENSGT00940000158463; -.
DR HOGENOM; CLU_066963_6_0_1; -.
DR InParanoid; Q9Y3B3; -.
DR OMA; TRVAYWH; -.
DR OrthoDB; 1292519at2759; -.
DR PhylomeDB; Q9Y3B3; -.
DR TreeFam; TF313000; -.
DR PathwayCommons; Q9Y3B3; -.
DR Reactome; R-HSA-6807878; COPI-mediated anterograde transport.
DR Reactome; R-HSA-6811434; COPI-dependent Golgi-to-ER retrograde traffic.
DR SignaLink; Q9Y3B3; -.
DR BioGRID-ORCS; 100302736; 7 hits in 922 CRISPR screens.
DR BioGRID-ORCS; 51014; 357 hits in 1039 CRISPR screens.
DR Pharos; Q9Y3B3; Tdark.
DR PRO; PR:Q9Y3B3; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9Y3B3; protein.
DR Bgee; ENSG00000134970; Expressed in choroid plexus epithelium and 210 other tissues.
DR ExpressionAtlas; Q9Y3B3; baseline and differential.
DR Genevisible; Q9Y3B3; HS.
DR GO; GO:0030126; C:COPI vesicle coat; TAS:UniProtKB.
DR GO; GO:0030127; C:COPII vesicle coat; TAS:UniProtKB.
DR GO; GO:0030134; C:COPII-coated ER to Golgi transport vesicle; IBA:GO_Central.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; TAS:Reactome.
DR GO; GO:0005793; C:endoplasmic reticulum-Golgi intermediate compartment; IDA:UniProtKB.
DR GO; GO:0033116; C:endoplasmic reticulum-Golgi intermediate compartment membrane; TAS:Reactome.
DR GO; GO:0005794; C:Golgi apparatus; IDA:UniProtKB.
DR GO; GO:0000139; C:Golgi membrane; TAS:Reactome.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0030133; C:transport vesicle; TAS:Reactome.
DR GO; GO:0006888; P:endoplasmic reticulum to Golgi vesicle-mediated transport; IBA:GO_Central.
DR GO; GO:0007030; P:Golgi organization; IBA:GO_Central.
DR GO; GO:0006886; P:intracellular protein transport; IBA:GO_Central.
DR InterPro; IPR015720; Emp24-like.
DR InterPro; IPR009038; GOLD_dom.
DR InterPro; IPR036598; GOLD_dom_sf.
DR InterPro; IPR015718; TMED7.
DR PANTHER; PTHR22811; PTHR22811; 1.
DR PANTHER; PTHR22811:SF117; PTHR22811:SF117; 1.
DR Pfam; PF01105; EMP24_GP25L; 1.
DR SMART; SM01190; EMP24_GP25L; 1.
DR SUPFAM; SSF101576; SSF101576; 1.
DR PROSITE; PS50866; GOLD; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasmic vesicle; Endoplasmic reticulum;
KW Glycoprotein; Golgi apparatus; Membrane; Protein transport;
KW Reference proteome; Signal; Transmembrane; Transmembrane helix; Transport.
FT SIGNAL 1..34
FT /evidence="ECO:0000255"
FT CHAIN 35..224
FT /note="Transmembrane emp24 domain-containing protein 7"
FT /id="PRO_0000010395"
FT TOPO_DOM 35..187
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 188..208
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 209..224
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 46..128
FT /note="GOLD"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00096"
FT MOTIF 211..224
FT /note="COPI vesicle coat-binding"
FT /evidence="ECO:0000255"
FT MOTIF 211..212
FT /note="COPII vesicle coat-binding"
FT /evidence="ECO:0000255"
FT CARBOHYD 103
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 189..224
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16303743"
FT /id="VSP_046247"
FT CONFLICT 1..23
FT /note="MPRPGSAQRWAAVAGRWGCRLLA -> MGSTVPRSASVLLLL (in Ref.
FT 1; AAD34104)"
FT /evidence="ECO:0000305"
FT CONFLICT 27..37
FT /note="LVPGPGGASEI -> RRAEQPCGAEL (in Ref. 1; AAD34104)"
FT /evidence="ECO:0000305"
FT CONFLICT 59
FT /note="C -> S (in Ref. 1; AAD34104)"
FT /evidence="ECO:0000305"
FT CONFLICT 131..139
FT /note="DPPLFPSEN -> THLCFLVD (in Ref. 1; AAD34104)"
FT /evidence="ECO:0000305"
FT CONFLICT 213
FT /note="S -> P (in Ref. 2; BAB55166)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 224 AA; 25172 MW; 9D0D2110579837B3 CRC64;
MPRPGSAQRW AAVAGRWGCR LLALLLLVPG PGGASEITFE LPDNAKQCFY EDIAQGTKCT
LEFQVITGGH YDVDCRLEDP DGKVLYKEMK KQYDSFTFTA SKNGTYKFCF SNEFSTFTHK
TVYFDFQVGE DPPLFPSENR VSALTQMESA CVSIHEALKS VIDYQTHFRL REAQGRSRAE
DLNTRVAYWS VGEALILLVV SIGQVFLLKS FFSDKRTTTT RVGS
