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Glucosamine-6-phosphate isomerase 2 (EC 3.5.99.6) (Glucosamine-6-phosphate deaminase 2) (GNPDA 2) (GlcN6P deaminase 2) (Glucosamine-6-phosphate isomerase SB52)

 GNPI2_HUMAN             Reviewed;         276 AA.
Q8TDQ7; B4DJF3; Q2VYF1; Q59EA7; Q8NCZ8; Q96BJ4; Q96NC6;
01-JUL-2008, integrated into UniProtKB/Swiss-Prot.
01-JUN-2002, sequence version 1.
22-NOV-2017, entry version 125.
RecName: Full=Glucosamine-6-phosphate isomerase 2;
EC=3.5.99.6;
AltName: Full=Glucosamine-6-phosphate deaminase 2;
Short=GNPDA 2;
Short=GlcN6P deaminase 2;
AltName: Full=Glucosamine-6-phosphate isomerase SB52;
Name=GNPDA2; Synonyms=GNP2;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
PubMed=12616532; DOI=10.1002/jcb.10444;
Zhang J., Zhang W., Zou D., Chen G., Wan T., Li N., Cao X.;
"Cloning and functional characterization of GNPI2, a novel human
homolog of glucosamine-6-phosphate isomerase/oscillin.";
J. Cell. Biochem. 88:932-940(2003).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5).
Xu J., Xie Y., Mao Y.;
"Characterization of a novel putative glucosamine-6-phosphate
isomerase.";
Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4).
TISSUE=Subthalamic nucleus;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
TISSUE=Aortic endothelium;
Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.,
Ohara O., Nagase T., Kikuno R.F.;
Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15815621; DOI=10.1038/nature03466;
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H.,
Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N.,
Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
Miller W., Eichler E.E., Bork P., Suyama M., Torrents D.,
Waterston R.H., Wilson R.K.;
"Generation and annotation of the DNA sequences of human chromosomes 2
and 4.";
Nature 434:724-731(2005).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT
SER-182.
TISSUE=Uterus;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 120-276 (ISOFORM 1).
TISSUE=Kidney;
PubMed=17974005; DOI=10.1186/1471-2164-8-399;
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[9]
SUBUNIT.
PubMed=12965206; DOI=10.1016/S0014-5793(03)00896-2;
Arreola R., Valderrama B., Morante M.L., Horjales E.;
"Two mammalian glucosamine-6-phosphate deaminases: a structural and
genetic study.";
FEBS Lett. 551:63-70(2003).
-!- CATALYTIC ACTIVITY: Alpha-D-glucosamine 6-phosphate + H(2)O = D-
fructose 6-phosphate + NH(3).
-!- SUBUNIT: Homohexamer. {ECO:0000250}.
-!- INTERACTION:
Q9Y303:AMDHD2; NbExp=3; IntAct=EBI-10275006, EBI-2798672;
P14373:TRIM27; NbExp=3; IntAct=EBI-10275006, EBI-719493;
-!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=5;
Name=1;
IsoId=Q8TDQ7-1; Sequence=Displayed;
Name=2;
IsoId=Q8TDQ7-2; Sequence=VSP_034579;
Name=3;
IsoId=Q8TDQ7-3; Sequence=VSP_034580;
Name=4;
IsoId=Q8TDQ7-4; Sequence=VSP_047033;
Name=5;
IsoId=Q8TDQ7-5; Sequence=VSP_047034;
-!- SIMILARITY: Belongs to the glucosamine/galactosamine-6-phosphate
isomerase family. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=BAD93141.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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EMBL; AF247786; AAL95691.1; -; mRNA.
EMBL; AY173948; AAO49718.1; -; mRNA.
EMBL; AK055639; BAB70977.1; -; mRNA.
EMBL; AK296051; BAG58815.1; -; mRNA.
EMBL; AB209904; BAD93141.1; ALT_INIT; mRNA.
EMBL; AC096586; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471069; EAW93019.1; -; Genomic_DNA.
EMBL; BC015532; AAH15532.1; -; mRNA.
EMBL; AL834506; CAD39163.1; -; mRNA.
CCDS; CCDS3469.1; -. [Q8TDQ7-1]
CCDS; CCDS59472.1; -. [Q8TDQ7-4]
CCDS; CCDS59473.1; -. [Q8TDQ7-5]
RefSeq; NP_001257809.1; NM_001270880.1. [Q8TDQ7-5]
RefSeq; NP_001257810.1; NM_001270881.1. [Q8TDQ7-4]
RefSeq; NP_612208.1; NM_138335.2. [Q8TDQ7-1]
UniGene; Hs.21398; -.
UniGene; Hs.597934; -.
UniGene; Hs.619562; -.
ProteinModelPortal; Q8TDQ7; -.
SMR; Q8TDQ7; -.
BioGrid; 126335; 15.
DIP; DIP-62122N; -.
IntAct; Q8TDQ7; 3.
STRING; 9606.ENSP00000295448; -.
iPTMnet; Q8TDQ7; -.
PhosphoSitePlus; Q8TDQ7; -.
DMDM; 74723936; -.
EPD; Q8TDQ7; -.
MaxQB; Q8TDQ7; -.
PaxDb; Q8TDQ7; -.
PeptideAtlas; Q8TDQ7; -.
PRIDE; Q8TDQ7; -.
TopDownProteomics; Q8TDQ7-2; -. [Q8TDQ7-2]
DNASU; 132789; -.
Ensembl; ENST00000295448; ENSP00000295448; ENSG00000163281. [Q8TDQ7-1]
Ensembl; ENST00000507534; ENSP00000427423; ENSG00000163281. [Q8TDQ7-4]
Ensembl; ENST00000507917; ENSP00000425868; ENSG00000163281. [Q8TDQ7-5]
Ensembl; ENST00000509756; ENSP00000424061; ENSG00000163281. [Q8TDQ7-3]
GeneID; 132789; -.
KEGG; hsa:132789; -.
UCSC; uc003gwy.5; human. [Q8TDQ7-1]
CTD; 132789; -.
DisGeNET; 132789; -.
EuPathDB; HostDB:ENSG00000163281.11; -.
GeneCards; GNPDA2; -.
HGNC; HGNC:21526; GNPDA2.
HPA; HPA000499; -.
HPA; HPA046891; -.
MIM; 613222; gene.
neXtProt; NX_Q8TDQ7; -.
OpenTargets; ENSG00000163281; -.
PharmGKB; PA134939177; -.
eggNOG; KOG3148; Eukaryota.
eggNOG; COG0363; LUCA.
GeneTree; ENSGT00390000014316; -.
HOGENOM; HOG000064979; -.
HOVERGEN; HBG002546; -.
InParanoid; Q8TDQ7; -.
KO; K02564; -.
OMA; PLHSMKE; -.
OrthoDB; EOG091G0LJF; -.
PhylomeDB; Q8TDQ7; -.
TreeFam; TF300841; -.
BRENDA; 3.5.99.6; 2681.
Reactome; R-HSA-70171; Glycolysis.
GeneWiki; GNPDA2; -.
GenomeRNAi; 132789; -.
PRO; PR:Q8TDQ7; -.
Proteomes; UP000005640; Chromosome 4.
Bgee; ENSG00000163281; -.
CleanEx; HS_GNPDA2; -.
ExpressionAtlas; Q8TDQ7; baseline and differential.
Genevisible; Q8TDQ7; HS.
GO; GO:0005829; C:cytosol; TAS:Reactome.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0004342; F:glucosamine-6-phosphate deaminase activity; TAS:Reactome.
GO; GO:0005975; P:carbohydrate metabolic process; IEA:UniProtKB-KW.
GO; GO:0006043; P:glucosamine catabolic process; TAS:Reactome.
GO; GO:0006044; P:N-acetylglucosamine metabolic process; IEA:InterPro.
CDD; cd01399; GlcN6P_deaminase; 1.
HAMAP; MF_01241; GlcN6P_deamin; 1.
InterPro; IPR006148; Glc/Gal-6P_isomerase.
InterPro; IPR004547; Glucosamine6P_isomerase.
InterPro; IPR018321; Glucosamine6P_isomerase_CS.
InterPro; IPR037171; NagB/RpiA_transferase-like.
PANTHER; PTHR11280; PTHR11280; 1.
Pfam; PF01182; Glucosamine_iso; 1.
SUPFAM; SSF100950; SSF100950; 1.
TIGRFAMs; TIGR00502; nagB; 1.
PROSITE; PS01161; GLC_GALNAC_ISOMERASE; 1.
1: Evidence at protein level;
Alternative splicing; Carbohydrate metabolism; Coiled coil;
Complete proteome; Cytoplasm; Hydrolase; Phosphoprotein; Polymorphism;
Reference proteome.
CHAIN 1 276 Glucosamine-6-phosphate isomerase 2.
/FTId=PRO_0000343205.
COILED 105 130 {ECO:0000255}.
ACT_SITE 72 72 Proton acceptor; for enolization step.
{ECO:0000250}.
ACT_SITE 141 141 For ring-opening step. {ECO:0000250}.
ACT_SITE 143 143 Proton acceptor; for ring-opening step.
{ECO:0000250}.
ACT_SITE 148 148 For ring-opening step. {ECO:0000250}.
MOD_RES 161 161 Phosphothreonine.
{ECO:0000250|UniProtKB:O88958}.
VAR_SEQ 1 70 Missing (in isoform 4).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_047033.
VAR_SEQ 43 76 Missing (in isoform 5).
{ECO:0000303|Ref.2}.
/FTId=VSP_047034.
VAR_SEQ 217 217 Missing (in isoform 2).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_034579.
VAR_SEQ 258 276 LMHVHNKLVDPLFSMKDGN -> EH (in isoform 3).
{ECO:0000303|Ref.4}.
/FTId=VSP_034580.
VARIANT 182 182 P -> S (in dbSNP:rs17851302).
{ECO:0000269|PubMed:15489334}.
/FTId=VAR_044348.
CONFLICT 37 37 L -> P (in Ref. 3; BAB70977).
{ECO:0000305}.
SEQUENCE 276 AA; 31085 MW; 2BCFD72F734639D0 CRC64;
MRLVILDNYD LASEWAAKYI CNRIIQFKPG QDRYFTLGLP TGSTPLGCYK KLIEYHKNGH
LSFKYVKTFN MDEYVGLPRN HPESYHSYMW NNFFKHIDID PNNAHILDGN AADLQAECDA
FENKIKEAGG IDLFVGGIGP DGHIAFNEPG SSLVSRTRLK TLAMDTILAN AKYFDGDLSK
VPTMALTVGV GTVMDAREVM ILITGAHKAF ALYKAIEEGV NHMWTVSAFQ QHPRTIFVCD
EDATLELRVK TVKYFKGLMH VHNKLVDPLF SMKDGN


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