TMG1_HUMAN
ID TMG1_HUMAN Reviewed; 218 AA.
AC O14668; B2R7A3; C9JXL7; D3DWA9; Q5JT66;
DT 23-JAN-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-JAN-1998, sequence version 1.
DT 03-AUG-2022, entry version 171.
DE RecName: Full=Transmembrane gamma-carboxyglutamic acid protein 1;
DE AltName: Full=Proline-rich gamma-carboxyglutamic acid protein 1;
DE Short=Proline-rich Gla protein 1;
DE Flags: Precursor;
GN Name=PRRG1; Synonyms=PRGP1, TMG1;
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 [MRNA] (ISOFORM 1).
RX PubMed=9256434; DOI=10.1073/pnas.94.17.9058;
RA Kulman J.D., Harris J.E., Haldeman B.A., Davie E.W.;
RT "Primary structure and tissue distribution of two novel proline-rich gamma-
RT carboxyglutamic acid proteins.";
RL Proc. Natl. Acad. Sci. U.S.A. 94:9058-9062(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Hippocampus;
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 GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Astrocytoma, 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 [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [7]
RP VARIANT [LARGE SCALE ANALYSIS] ILE-60.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- INTERACTION:
CC O14668; P07919: UQCRH; NbExp=3; IntAct=EBI-12111452, EBI-1224427;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O14668-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O14668-2; Sequence=VSP_044789, VSP_044790;
CC -!- TISSUE SPECIFICITY: Highly expressed in the spinal cord.
CC -!- PTM: Gla residues are produced after subsequent post-translational
CC modifications of glutamate by a vitamin K-dependent gamma-carboxylase.
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DR EMBL; AF009242; AAB67070.1; -; mRNA.
DR EMBL; AK312904; BAG35750.1; -; mRNA.
DR EMBL; AL356858; CAI40412.1; -; Genomic_DNA.
DR EMBL; CH471141; EAW59457.1; -; Genomic_DNA.
DR EMBL; CH471141; EAW59458.1; -; Genomic_DNA.
DR EMBL; BC041591; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC060833; AAH60833.1; -; mRNA.
DR CCDS; CCDS14239.1; -. [O14668-1]
DR CCDS; CCDS55397.1; -. [O14668-2]
DR RefSeq; NP_000941.1; NM_000950.2. [O14668-1]
DR RefSeq; NP_001135867.1; NM_001142395.1. [O14668-1]
DR RefSeq; NP_001166957.1; NM_001173486.1. [O14668-2]
DR RefSeq; NP_001166960.1; NM_001173489.1. [O14668-1]
DR RefSeq; NP_001166961.1; NM_001173490.1. [O14668-1]
DR AlphaFoldDB; O14668; -.
DR SMR; O14668; -.
DR BioGRID; 111621; 15.
DR IntAct; O14668; 2.
DR STRING; 9606.ENSP00000444278; -.
DR iPTMnet; O14668; -.
DR PhosphoSitePlus; O14668; -.
DR BioMuta; PRRG1; -.
DR jPOST; O14668; -.
DR MassIVE; O14668; -.
DR MaxQB; O14668; -.
DR PaxDb; O14668; -.
DR PeptideAtlas; O14668; -.
DR PRIDE; O14668; -.
DR ProteomicsDB; 48160; -. [O14668-1]
DR Antibodypedia; 35083; 117 antibodies from 20 providers.
DR DNASU; 5638; -.
DR Ensembl; ENST00000378628.9; ENSP00000367894.4; ENSG00000130962.18. [O14668-1]
DR Ensembl; ENST00000449135.6; ENSP00000390332.2; ENSG00000130962.18. [O14668-1]
DR Ensembl; ENST00000463135.1; ENSP00000419999.1; ENSG00000130962.18. [O14668-2]
DR Ensembl; ENST00000542554.5; ENSP00000444278.1; ENSG00000130962.18. [O14668-1]
DR Ensembl; ENST00000543642.5; ENSP00000443271.1; ENSG00000130962.18. [O14668-1]
DR GeneID; 5638; -.
DR KEGG; hsa:5638; -.
DR MANE-Select; ENST00000378628.9; ENSP00000367894.4; NM_001142395.2; NP_001135867.1.
DR UCSC; uc004ddn.4; human. [O14668-1]
DR CTD; 5638; -.
DR DisGeNET; 5638; -.
DR GeneCards; PRRG1; -.
DR HGNC; HGNC:9469; PRRG1.
DR HPA; ENSG00000130962; Tissue enhanced (brain).
DR MIM; 300935; gene.
DR neXtProt; NX_O14668; -.
DR OpenTargets; ENSG00000130962; -.
DR PharmGKB; PA33824; -.
DR VEuPathDB; HostDB:ENSG00000130962; -.
DR eggNOG; ENOG502RU75; Eukaryota.
DR GeneTree; ENSGT00940000158538; -.
DR HOGENOM; CLU_103591_0_0_1; -.
DR InParanoid; O14668; -.
DR OMA; VGHTDIQ; -.
DR PhylomeDB; O14668; -.
DR TreeFam; TF332123; -.
DR PathwayCommons; O14668; -.
DR SignaLink; O14668; -.
DR BioGRID-ORCS; 5638; 8 hits in 701 CRISPR screens.
DR ChiTaRS; PRRG1; human.
DR GenomeRNAi; 5638; -.
DR Pharos; O14668; Tbio.
DR PRO; PR:O14668; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; O14668; protein.
DR Bgee; ENSG00000130962; Expressed in inferior vagus X ganglion and 187 other tissues.
DR ExpressionAtlas; O14668; baseline and differential.
DR Genevisible; O14668; HS.
DR GO; GO:0005576; C:extracellular region; IEA:InterPro.
DR GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR Gene3D; 4.10.740.10; -; 1.
DR InterPro; IPR017857; Coagulation_fac-like_Gla_dom.
DR InterPro; IPR035972; GLA-like_dom_SF.
DR InterPro; IPR000294; GLA_domain.
DR Pfam; PF00594; Gla; 1.
DR PRINTS; PR00001; GLABLOOD.
DR SMART; SM00069; GLA; 1.
DR SUPFAM; SSF57630; SSF57630; 1.
DR PROSITE; PS00011; GLA_1; 1.
DR PROSITE; PS50998; GLA_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Disulfide bond; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT PROPEP 1..20
FT /evidence="ECO:0000255"
FT /id="PRO_0000022541"
FT CHAIN 21..218
FT /note="Transmembrane gamma-carboxyglutamic acid protein 1"
FT /id="PRO_0000022542"
FT TOPO_DOM 21..83
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 84..106
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 107..218
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 21..66
FT /note="Gla"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00463"
FT REGION 161..195
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT DISULFID 37..42
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00463"
FT VAR_SEQ 58..82
FT /note="KEFWSTYTKAQQGESNRGSDWFQFY -> GLVLLPRLECSCEHGSLQPQLPV
FT PK (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_044789"
FT VAR_SEQ 83..218
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_044790"
FT VARIANT 60
FT /note="F -> I (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036268"
FT CONFLICT O14668-2:75
FT /note="Q -> R (in Ref. 5; BC041591)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 218 AA; 24947 MW; 26538A61AB0AEB98 CRC64;
MGRVFLTGEK ANSILKRYPR ANGFFEEIRQ GNIERECKEE FCTFEEAREA FENNEKTKEF
WSTYTKAQQG ESNRGSDWFQ FYLTFPLIFG LFIILLVIFL IWRCFLRNKT RRQTVTEGHI
PFPQHLNIIT PPPPPDEVFD SSGLSPGFLG YVVGRSDSVS TRLSNCDPPP TYEEATGQVN
LQRSETEPHL DPPPEYEDIV NSNSASAIPM VPVVTTIK