TMED5_HUMAN
ID TMED5_HUMAN Reviewed; 229 AA.
AC Q9Y3A6; B1AKT4; B2R703; D3DT38; Q96AX8;
DT 24-JAN-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 179.
DE RecName: Full=Transmembrane emp24 domain-containing protein 5;
DE AltName: Full=p24 family protein gamma-2;
DE Short=p24gamma2;
DE AltName: Full=p28;
DE Flags: Precursor;
GN Name=TMED5; ORFNames=CGI-100, UNQ397/PRO733;
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), AND VARIANT ILE-175.
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Placenta;
RA Li W.B., Gruber C., Jessee J., Polayes D.;
RT "Full-length cDNA libraries and normalization.";
RL Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ILE-175.
RC TISSUE=Testis;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [6]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ILE-175.
RC TISSUE=Bone marrow, Brain, and Placenta;
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 [8]
RP FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH TMED9 AND TMED10.
RX PubMed=19948005; DOI=10.1111/j.1600-0854.2009.01009.x;
RA Koegler E., Bonnon C., Waldmeier L., Mitrovic S., Halbeisen R., Hauri H.P.;
RT "p28, a novel ERGIC/cis Golgi protein, required for Golgi ribbon
RT formation.";
RL Traffic 11:70-89(2010).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [10]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [11]
RP CLEAVAGE OF SIGNAL PEPTIDE [LARGE SCALE ANALYSIS] AFTER GLY-27, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
CC -!- FUNCTION: Potential role in vesicular protein trafficking, mainly in
CC the early secretory pathway. Required for the maintenance of the Golgi
CC apparatus; involved in protein exchange between Golgi stacks during
CC assembly. Probably not required for COPI-vesicle-mediated retrograde
CC transport. {ECO:0000269|PubMed:19948005}.
CC -!- SUBUNIT: Interacts with TMED9 and TMED10.
CC {ECO:0000269|PubMed:19948005}.
CC -!- INTERACTION:
CC Q9Y3A6; Q07325: CXCL9; NbExp=3; IntAct=EBI-7560959, EBI-3911467;
CC Q9Y3A6; Q96LA8: PRMT6; NbExp=2; IntAct=EBI-7560959, EBI-912440;
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000269|PubMed:19948005}; Single-pass type I membrane protein
CC {ECO:0000269|PubMed:19948005}. Golgi apparatus, cis-Golgi network
CC membrane {ECO:0000269|PubMed:19948005}; Single-pass type I membrane
CC protein {ECO:0000269|PubMed:19948005}. Endoplasmic reticulum-Golgi
CC intermediate compartment membrane {ECO:0000269|PubMed:19948005};
CC Single-pass type I membrane protein {ECO:0000269|PubMed:19948005}.
CC Note=Probably cycles between compartments of the early secretatory
CC pathway.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9Y3A6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y3A6-2; Sequence=VSP_046365;
CC -!- SIMILARITY: Belongs to the EMP24/GP25L family. {ECO:0000305}.
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DR EMBL; AF151858; AAD34095.1; -; mRNA.
DR EMBL; AY359039; AAQ89398.1; -; mRNA.
DR EMBL; BX379269; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AK312787; BAG35650.1; -; mRNA.
DR EMBL; AC126124; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL117354; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471097; EAW73081.1; -; Genomic_DNA.
DR EMBL; CH471097; EAW73082.1; -; Genomic_DNA.
DR EMBL; BC016365; AAH16365.1; -; mRNA.
DR EMBL; BC016556; AAH16556.1; -; mRNA.
DR EMBL; BC070051; AAH70051.1; -; mRNA.
DR CCDS; CCDS53342.1; -. [Q9Y3A6-2]
DR CCDS; CCDS743.1; -. [Q9Y3A6-1]
DR RefSeq; NP_001161302.1; NM_001167830.1. [Q9Y3A6-2]
DR RefSeq; NP_057124.3; NM_016040.4. [Q9Y3A6-1]
DR AlphaFoldDB; Q9Y3A6; -.
DR SMR; Q9Y3A6; -.
DR BioGRID; 119207; 62.
DR IntAct; Q9Y3A6; 17.
DR MINT; Q9Y3A6; -.
DR STRING; 9606.ENSP00000359305; -.
DR GlyGen; Q9Y3A6; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9Y3A6; -.
DR PhosphoSitePlus; Q9Y3A6; -.
DR BioMuta; TMED5; -.
DR DMDM; 12585534; -.
DR EPD; Q9Y3A6; -.
DR jPOST; Q9Y3A6; -.
DR MassIVE; Q9Y3A6; -.
DR MaxQB; Q9Y3A6; -.
DR PaxDb; Q9Y3A6; -.
DR PeptideAtlas; Q9Y3A6; -.
DR PRIDE; Q9Y3A6; -.
DR ProteomicsDB; 3107; -.
DR ProteomicsDB; 85998; -. [Q9Y3A6-1]
DR TopDownProteomics; Q9Y3A6-1; -. [Q9Y3A6-1]
DR Antibodypedia; 33655; 36 antibodies from 17 providers.
DR DNASU; 50999; -.
DR Ensembl; ENST00000370282.8; ENSP00000359305.3; ENSG00000117500.13. [Q9Y3A6-1]
DR Ensembl; ENST00000479918.5; ENSP00000418992.1; ENSG00000117500.13. [Q9Y3A6-2]
DR GeneID; 50999; -.
DR KEGG; hsa:50999; -.
DR MANE-Select; ENST00000370282.8; ENSP00000359305.3; NM_016040.5; NP_057124.3.
DR UCSC; uc001dpn.4; human. [Q9Y3A6-1]
DR CTD; 50999; -.
DR DisGeNET; 50999; -.
DR GeneCards; TMED5; -.
DR HGNC; HGNC:24251; TMED5.
DR HPA; ENSG00000117500; Low tissue specificity.
DR MIM; 616876; gene.
DR neXtProt; NX_Q9Y3A6; -.
DR OpenTargets; ENSG00000117500; -.
DR PharmGKB; PA134942067; -.
DR VEuPathDB; HostDB:ENSG00000117500; -.
DR eggNOG; KOG3287; Eukaryota.
DR GeneTree; ENSGT00940000155468; -.
DR HOGENOM; CLU_066963_0_0_1; -.
DR InParanoid; Q9Y3A6; -.
DR OMA; FATGGRM; -.
DR OrthoDB; 1292519at2759; -.
DR PhylomeDB; Q9Y3A6; -.
DR TreeFam; TF313000; -.
DR PathwayCommons; Q9Y3A6; -.
DR Reactome; R-HSA-3238698; WNT ligand biogenesis and trafficking.
DR SignaLink; Q9Y3A6; -.
DR SIGNOR; Q9Y3A6; -.
DR BioGRID-ORCS; 50999; 20 hits in 1087 CRISPR screens.
DR ChiTaRS; TMED5; human.
DR GenomeRNAi; 50999; -.
DR Pharos; Q9Y3A6; Tdark.
DR PRO; PR:Q9Y3A6; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9Y3A6; protein.
DR Bgee; ENSG00000117500; Expressed in skeletal muscle tissue of biceps brachii and 213 other tissues.
DR ExpressionAtlas; Q9Y3A6; baseline and differential.
DR Genevisible; Q9Y3A6; HS.
DR GO; GO:0005801; C:cis-Golgi network; IDA:UniProtKB.
DR GO; GO:0030134; C:COPII-coated ER to Golgi transport vesicle; IBA:GO_Central.
DR GO; GO:0005783; C:endoplasmic reticulum; IBA:GO_Central.
DR GO; GO:0070971; C:endoplasmic reticulum exit site; IDA:UniProtKB.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005793; C:endoplasmic reticulum-Golgi intermediate compartment; IDA:UniProtKB.
DR GO; GO:0033116; C:endoplasmic reticulum-Golgi intermediate compartment membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005794; C:Golgi apparatus; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
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:0090161; P:Golgi ribbon formation; IMP:UniProtKB.
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; IPR015717; TMED5.
DR PANTHER; PTHR22811; PTHR22811; 1.
DR PANTHER; PTHR22811:SF41; PTHR22811:SF41; 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; Endoplasmic reticulum; Golgi apparatus; Membrane;
KW Protein transport; Reference proteome; Signal; Transmembrane;
KW Transmembrane helix; Transport.
FT SIGNAL 1..27
FT /evidence="ECO:0000255, ECO:0007744|PubMed:25944712"
FT CHAIN 28..229
FT /note="Transmembrane emp24 domain-containing protein 5"
FT /id="PRO_0000010389"
FT TOPO_DOM 28..196
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 197..217
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 218..229
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 45..126
FT /note="GOLD"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00096"
FT VAR_SEQ 158..229
FT /note="ESINSIKSRLSKSGHIQTLLRAFEARDRNIQESNFDRVNFWSMVNLVVMVVV
FT SAIQVYMLKSLFEDKRKSRT -> DPIIKIASDVQIRLHLGIHQQHQVQTKQKWAHTNS
FT A (in isoform 2)"
FT /evidence="ECO:0000303|Ref.3"
FT /id="VSP_046365"
FT VARIANT 175
FT /note="T -> I (in dbSNP:rs1060622)"
FT /evidence="ECO:0000269|PubMed:12975309,
FT ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334"
FT /id="VAR_017150"
SQ SEQUENCE 229 AA; 26005 MW; 6973E0DACBF15B19 CRC64;
MGDKIWLPFP VLLLAALPPV LLPGAAGFTP SLDSDFTFTL PAGQKECFYQ PMPLKASLEI
EYQVLDGAGL DIDFHLASPE GKTLVFEQRK SDGVHTVETE VGDYMFCFDN TFSTISEKVI
FFELILDNMG EQAQEQEDWK KYITGTDILD MKLEDILESI NSIKSRLSKS GHIQTLLRAF
EARDRNIQES NFDRVNFWSM VNLVVMVVVS AIQVYMLKSL FEDKRKSRT
