GLUCM_HUMAN
ID GLUCM_HUMAN Reviewed; 616 AA.
AC Q7Z3D6; B3KUI7; Q86SW3; Q86SX8; Q86SX9; Q86T08; Q86TV5; Q96GW5; Q9H7G0;
AC Q9H8Y9; Q9H9W6;
DT 07-JUN-2004, integrated into UniProtKB/Swiss-Prot.
DT 07-JUN-2004, sequence version 2.
DT 03-AUG-2022, entry version 152.
DE RecName: Full=D-glutamate cyclase, mitochondrial {ECO:0000305};
DE EC=4.2.1.48 {ECO:0000250|UniProtKB:Q8BH86};
DE Flags: Precursor;
GN Name=DGLUCY {ECO:0000312|HGNC:HGNC:20498};
GN Synonyms=C14orf159 {ECO:0000312|HGNC:HGNC:20498};
GN ORFNames=UNQ2439/PRO5000 {ECO:0000303|PubMed:12975309};
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=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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 5).
RC TISSUE=Adipose tissue, Brain, Spleen, and Teratocarcinoma;
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] (ISOFORMS 2; 3 AND 4).
RC TISSUE=Neuroblastoma;
RA Li W.B., Gruber C., Jessee J., Polayes D.;
RT "Full-length cDNA libraries and normalization.";
RL Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=B-cell, Endometrium, and T-cell;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 6).
RC TISSUE=Brain, Eye, and Lung;
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].
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 [7]
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 [8]
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: D-glutamate cyclase that converts D-glutamate to 5-oxo-D-
CC proline. {ECO:0000250|UniProtKB:Q8BH86}.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=D-glutamate = 5-oxo-D-proline + H2O; Xref=Rhea:RHEA:22360,
CC ChEBI:CHEBI:15377, ChEBI:CHEBI:29986, ChEBI:CHEBI:57948; EC=4.2.1.48;
CC Evidence={ECO:0000250|UniProtKB:Q8BH86};
CC -!- INTERACTION:
CC Q7Z3D6; Q9Y3D2: MSRB2; NbExp=3; IntAct=EBI-2807872, EBI-9092052;
CC Q7Z3D6; P25788: PSMA3; NbExp=3; IntAct=EBI-2807872, EBI-348380;
CC -!- SUBCELLULAR LOCATION: Mitochondrion matrix
CC {ECO:0000250|UniProtKB:Q8BH86}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Name=1;
CC IsoId=Q7Z3D6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q7Z3D6-2; Sequence=VSP_010506;
CC Name=3;
CC IsoId=Q7Z3D6-3; Sequence=VSP_010506, VSP_010509;
CC Name=4;
CC IsoId=Q7Z3D6-4; Sequence=VSP_010506, VSP_010510, VSP_010511;
CC Name=5;
CC IsoId=Q7Z3D6-5; Sequence=VSP_010508, VSP_010509;
CC Name=6;
CC IsoId=Q7Z3D6-6; Sequence=VSP_010505, VSP_010507;
CC -!- MISCELLANEOUS: [Isoform 4]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the D-glutamate cyclase family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB14932.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AY358516; AAQ88880.1; -; mRNA.
DR EMBL; AK022564; BAB14102.1; -; mRNA.
DR EMBL; AK023200; BAB14458.1; -; mRNA.
DR EMBL; AK024603; BAB14932.1; ALT_SEQ; mRNA.
DR EMBL; AK097294; BAG53449.1; -; mRNA.
DR EMBL; BX161393; CAD61880.1; -; mRNA.
DR EMBL; BX247989; CAD62323.1; -; mRNA.
DR EMBL; BX248060; CAD62356.1; -; mRNA.
DR EMBL; BX248294; CAD62622.1; -; mRNA.
DR EMBL; BX248782; CAD66589.1; -; mRNA.
DR EMBL; BX537970; CAD97934.1; -; mRNA.
DR EMBL; BC009182; AAH09182.1; -; mRNA.
DR EMBL; BC010614; AAH10614.1; -; mRNA.
DR EMBL; BC065558; AAH65558.1; -; mRNA.
DR CCDS; CCDS32141.1; -. [Q7Z3D6-1]
DR CCDS; CCDS41979.1; -. [Q7Z3D6-2]
DR CCDS; CCDS45150.1; -. [Q7Z3D6-5]
DR CCDS; CCDS66693.1; -. [Q7Z3D6-3]
DR CCDS; CCDS73677.1; -. [Q7Z3D6-6]
DR RefSeq; NP_001095836.1; NM_001102366.2. [Q7Z3D6-1]
DR RefSeq; NP_001095837.1; NM_001102367.2. [Q7Z3D6-1]
DR RefSeq; NP_001095838.1; NM_001102368.2. [Q7Z3D6-2]
DR RefSeq; NP_001095839.1; NM_001102369.2. [Q7Z3D6-5]
DR RefSeq; NP_001273399.1; NM_001286470.1. [Q7Z3D6-2]
DR RefSeq; NP_001273400.1; NM_001286471.1. [Q7Z3D6-1]
DR RefSeq; NP_001273401.1; NM_001286472.1. [Q7Z3D6-3]
DR RefSeq; NP_001273402.1; NM_001286473.1. [Q7Z3D6-6]
DR RefSeq; NP_079228.4; NM_024952.7. [Q7Z3D6-1]
DR AlphaFoldDB; Q7Z3D6; -.
DR SMR; Q7Z3D6; -.
DR BioGRID; 123071; 27.
DR IntAct; Q7Z3D6; 10.
DR STRING; 9606.ENSP00000428263; -.
DR GlyGen; Q7Z3D6; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q7Z3D6; -.
DR PhosphoSitePlus; Q7Z3D6; -.
DR BioMuta; DGLUCY; -.
DR DMDM; 48428039; -.
DR EPD; Q7Z3D6; -.
DR jPOST; Q7Z3D6; -.
DR MassIVE; Q7Z3D6; -.
DR MaxQB; Q7Z3D6; -.
DR PaxDb; Q7Z3D6; -.
DR PeptideAtlas; Q7Z3D6; -.
DR PRIDE; Q7Z3D6; -.
DR ProteomicsDB; 69032; -. [Q7Z3D6-1]
DR ProteomicsDB; 69033; -. [Q7Z3D6-2]
DR ProteomicsDB; 69034; -. [Q7Z3D6-3]
DR ProteomicsDB; 69035; -. [Q7Z3D6-4]
DR ProteomicsDB; 69036; -. [Q7Z3D6-5]
DR ProteomicsDB; 69037; -. [Q7Z3D6-6]
DR Antibodypedia; 52277; 32 antibodies from 14 providers.
DR DNASU; 80017; -.
DR Ensembl; ENST00000256324.15; ENSP00000256324.9; ENSG00000133943.21. [Q7Z3D6-2]
DR Ensembl; ENST00000298858.8; ENSP00000298858.4; ENSG00000133943.21. [Q7Z3D6-6]
DR Ensembl; ENST00000412671.6; ENSP00000404196.2; ENSG00000133943.21. [Q7Z3D6-2]
DR Ensembl; ENST00000428926.6; ENSP00000404343.2; ENSG00000133943.21. [Q7Z3D6-1]
DR Ensembl; ENST00000518665.6; ENSP00000429098.1; ENSG00000133943.21. [Q7Z3D6-6]
DR Ensembl; ENST00000518868.5; ENSP00000428263.1; ENSG00000133943.21. [Q7Z3D6-2]
DR Ensembl; ENST00000520328.5; ENSP00000429453.1; ENSG00000133943.21. [Q7Z3D6-5]
DR Ensembl; ENST00000521077.6; ENSP00000430137.1; ENSG00000133943.21. [Q7Z3D6-3]
DR Ensembl; ENST00000522322.5; ENSP00000427953.1; ENSG00000133943.21. [Q7Z3D6-1]
DR Ensembl; ENST00000523771.5; ENSP00000429655.1; ENSG00000133943.21. [Q7Z3D6-1]
DR Ensembl; ENST00000523816.5; ENSP00000428974.1; ENSG00000133943.21. [Q7Z3D6-1]
DR Ensembl; ENST00000525393.6; ENSP00000435459.3; ENSG00000133943.21. [Q7Z3D6-3]
DR GeneID; 80017; -.
DR KEGG; hsa:80017; -.
DR MANE-Select; ENST00000256324.15; ENSP00000256324.9; NM_001102368.3; NP_001095838.1. [Q7Z3D6-2]
DR UCSC; uc001xyv.4; human. [Q7Z3D6-1]
DR CTD; 80017; -.
DR DisGeNET; 80017; -.
DR GeneCards; DGLUCY; -.
DR HGNC; HGNC:20498; DGLUCY.
DR HPA; ENSG00000133943; Tissue enhanced (tongue).
DR neXtProt; NX_Q7Z3D6; -.
DR OpenTargets; ENSG00000133943; -.
DR PharmGKB; PA134952868; -.
DR VEuPathDB; HostDB:ENSG00000133943; -.
DR eggNOG; ENOG502QV7A; Eukaryota.
DR GeneTree; ENSGT00390000002237; -.
DR HOGENOM; CLU_140425_0_0_1; -.
DR InParanoid; Q7Z3D6; -.
DR OMA; GIMGMEV; -.
DR PhylomeDB; Q7Z3D6; -.
DR TreeFam; TF300254; -.
DR PathwayCommons; Q7Z3D6; -.
DR SignaLink; Q7Z3D6; -.
DR BioGRID-ORCS; 80017; 11 hits in 1056 CRISPR screens.
DR ChiTaRS; C14orf159; human.
DR GeneWiki; C14orf159; -.
DR GenomeRNAi; 80017; -.
DR Pharos; Q7Z3D6; Tdark.
DR PRO; PR:Q7Z3D6; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q7Z3D6; protein.
DR Bgee; ENSG00000133943; Expressed in apex of heart and 203 other tissues.
DR ExpressionAtlas; Q7Z3D6; baseline and differential.
DR Genevisible; Q7Z3D6; HS.
DR GO; GO:0005759; C:mitochondrial matrix; ISS:UniProtKB.
DR GO; GO:0047820; F:D-glutamate cyclase activity; ISS:UniProtKB.
DR GO; GO:0006536; P:glutamate metabolic process; ISS:UniProtKB.
DR InterPro; IPR009906; D-Glu_cyclase.
DR InterPro; IPR017135; D-Glu_cyclase_mito.
DR InterPro; IPR025504; DUF4392.
DR InterPro; IPR038021; Putative_hydro-lyase.
DR Pfam; PF07286; DUF1445; 1.
DR Pfam; PF14336; DUF4392; 1.
DR PIRSF; PIRSF037204; UCP037204; 1.
DR SUPFAM; SSF160920; SSF160920; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Lyase; Mitochondrion; Reference proteome;
KW Transit peptide.
FT TRANSIT 1..28
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN 29..616
FT /note="D-glutamate cyclase, mitochondrial"
FT /id="PRO_0000036292"
FT VAR_SEQ 86..159
FT /note="RMGHPQFWKYEFGACTGSLASLEQYSEQLKDMVAFFLGCSFSLEEALEKAGL
FT PRRDPAGHSQTTVPCVTHAGFC -> SLRDLHSAWHRTSLMTVAQERAALPTVLTPSPI
FT TWRLSWLRSLRSWRKSSPGEIPLALPSVHSIAQARNPPVQD (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_010505"
FT VAR_SEQ 147
FT /note="Q -> QAGAYK (in isoform 2, isoform 3 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17974005, ECO:0000303|Ref.3"
FT /id="VSP_010506"
FT VAR_SEQ 160..616
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_010507"
FT VAR_SEQ 186..197
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_010508"
FT VAR_SEQ 477..516
FT /note="Missing (in isoform 3 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039, ECO:0000303|Ref.3"
FT /id="VSP_010509"
FT VAR_SEQ 569..574
FT /note="EKMLGI -> SKGRKL (in isoform 4)"
FT /evidence="ECO:0000303|Ref.3"
FT /id="VSP_010510"
FT VAR_SEQ 575..616
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|Ref.3"
FT /id="VSP_010511"
FT VARIANT 10
FT /note="R -> C (in dbSNP:rs10142502)"
FT /id="VAR_018738"
FT VARIANT 237
FT /note="S -> N (in dbSNP:rs34302825)"
FT /id="VAR_052599"
FT VARIANT 372
FT /note="A -> T (in dbSNP:rs12895348)"
FT /id="VAR_052600"
FT VARIANT 502
FT /note="D -> N (in dbSNP:rs2295524)"
FT /id="VAR_018739"
FT VARIANT 507
FT /note="D -> N (in dbSNP:rs34523602)"
FT /id="VAR_052601"
FT VARIANT 583
FT /note="G -> D (in dbSNP:rs34748911)"
FT /id="VAR_052602"
FT CONFLICT 32
FT /note="M -> V (in Ref. 4; CAD97934)"
FT /evidence="ECO:0000305"
FT CONFLICT 147
FT /note="Q -> P (in Ref. 1; AAQ88880)"
FT /evidence="ECO:0000305"
FT CONFLICT 165
FT /note="T -> M (in Ref. 4; CAD97934)"
FT /evidence="ECO:0000305"
FT CONFLICT 349
FT /note="E -> V (in Ref. 2; BAB14932)"
FT /evidence="ECO:0000305"
FT CONFLICT 368
FT /note="E -> G (in Ref. 4; CAD97934)"
FT /evidence="ECO:0000305"
FT CONFLICT 497
FT /note="H -> R (in Ref. 2; BAB14932)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 616 AA; 66437 MW; C33884FA33D4D1AC CRC64;
MPFTLHLRSR LPSAIRSLIL QKKPNIRNTS SMAGELRPAS LVVLPRSLAP AFERFCQVNT
GPLPLLGQSE PEKWMLPPQG AISETRMGHP QFWKYEFGAC TGSLASLEQY SEQLKDMVAF
FLGCSFSLEE ALEKAGLPRR DPAGHSQTTV PCVTHAGFCC PLVVTMRPIP KDKLEGLVRA
CCSLGGEQGQ PVHMGDPELL GIKELSKPAY GDAMVCPPGE VPVFWPSPLT SLGAVSSCET
PLAFASIPGC TVMTDLKDAK APPGCLTPER IPEVHHISQD PLHYSIASVS ASQKIRELES
MIGIDPGNRG IGHLLCKDEL LKASLSLSHA RSVLITTGFP THFNHEPPEE TDGPPGAVAL
VAFLQALEKE VAIIVDQRAW NLHQKIVEDA VEQGVLKTQI PILTYQGGSV EAAQAFLCKN
GDPQTPRFDH LVAIERAGRA ADGNYYNARK MNIKHLVDPI DDLFLAAKKI PGISSTGVGD
GGNELGMGKV KEAVRRHIRH GDVIACDVEA DFAVIAGVSN WGGYALACAL YILYSCAVHS
QYLRKAVGPS RAPGDQAWTQ ALPSVIKEEK MLGILVQHKV RSGVSGIVGM EVDGLPFHNT
HAEMIQKLVD VTTAQV
