Q8TDQ7 (GNPI2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Glucosamine-6-phosphate isomerase 2
EC=3.5.99.6

Alternative name(s):
Glucosamine-6-phosphate deaminase 2
Short name=GNPDA 2
Short name=GlcN6P deaminase 2
Glucosamine-6-phosphate isomerase SB52

Gene names

Name:	GNPDA2
Synonyms:	GNP2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	276 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Catalytic activity	D-glucosamine 6-phosphate + H2O = D-fructose 6-phosphate + NH3.
Subunit structure	Homohexamer By similarity. Ref.7
Subcellular location	Cytoplasm By similarity.
Sequence similarities	Belongs to the glucosamine/galactosamine-6-phosphate isomerase family.
Sequence caution	The sequence BAD93141.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Carbohydrate metabolism
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
Molecular function	Hydrolase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	N-acetylglucosamine metabolic process Inferred from electronic annotation. Source: InterPro carbohydrate metabolic process Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	glucosamine-6-phosphate deaminase activity Inferred from electronic annotation. Source: EC hydrolase activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8TDQ7-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q8TDQ7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     217-217: Missing.

Isoform 3 (identifier: Q8TDQ7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     258-276: LMHVHNKLVDPLFSMKDGN → EH

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 276	276	Glucosamine-6-phosphate isomerase 2		PRO_0000343205
Regions
	Coiled coil	105 – 130	26	Potential
Sites
	Active site	72	1	Proton acceptor; for enolization step By similarity
	Active site	141	1	For ring-opening step By similarity
	Active site	143	1	Proton acceptor; for ring-opening step By similarity
	Active site	148	1	For ring-opening step By similarity
Natural variations
	Alternative sequence	217	1	Missing in isoform 2.		VSP_034579
	Alternative sequence	258 – 276	19	LMHVH…MKDGN → EH in isoform 3.		VSP_034580
	Natural variant	182	1	P → S. Ref.5 Corresponds to variant rs17851302 [ dbSNP | Ensembl ].		VAR_044348
Experimental info
	Sequence conflict	37	1	L → P in BAB70977. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 2002. Version 1. Checksum: 2BCFD72F734639D0	FASTA	276	31,085
	10 20 30 40 50 60 MRLVILDNYD LASEWAAKYI CNRIIQFKPG QDRYFTLGLP TGSTPLGCYK KLIEYHKNGH 70 80 90 100 110 120 LSFKYVKTFN MDEYVGLPRN HPESYHSYMW NNFFKHIDID PNNAHILDGN AADLQAECDA 130 140 150 160 170 180 FENKIKEAGG IDLFVGGIGP DGHIAFNEPG SSLVSRTRLK TLAMDTILAN AKYFDGDLSK 190 200 210 220 230 240 VPTMALTVGV GTVMDAREVM ILITGAHKAF ALYKAIEEGV NHMWTVSAFQ QHPRTIFVCD 250 260 270 EDATLELRVK TVKYFKGLMH VHNKLVDPLF SMKDGN
	Isoform 2 [UniParc]. Checksum: 6DB65CA86569D445	FASTA	275	30,956
	10 20 30 40 50 60 MRLVILDNYD LASEWAAKYI CNRIIQFKPG QDRYFTLGLP TGSTPLGCYK KLIEYHKNGH 70 80 90 100 110 120 LSFKYVKTFN MDEYVGLPRN HPESYHSYMW NNFFKHIDID PNNAHILDGN AADLQAECDA 130 140 150 160 170 180 FENKIKEAGG IDLFVGGIGP DGHIAFNEPG SSLVSRTRLK TLAMDTILAN AKYFDGDLSK 190 200 210 220 230 240 VPTMALTVGV GTVMDAREVM ILITGAHKAF ALYKAIEGVN HMWTVSAFQQ HPRTIFVCDE 250 260 270 DATLELRVKT VKYFKGLMHV HNKLVDPLFS MKDGN
	Isoform 3 [UniParc]. Checksum: 1C0DB9A7FFDB5C92	FASTA	259	29,173
	10 20 30 40 50 60 MRLVILDNYD LASEWAAKYI CNRIIQFKPG QDRYFTLGLP TGSTPLGCYK KLIEYHKNGH 70 80 90 100 110 120 LSFKYVKTFN MDEYVGLPRN HPESYHSYMW NNFFKHIDID PNNAHILDGN AADLQAECDA 130 140 150 160 170 180 FENKIKEAGG IDLFVGGIGP DGHIAFNEPG SSLVSRTRLK TLAMDTILAN AKYFDGDLSK 190 200 210 220 230 240 VPTMALTVGV GTVMDAREVM ILITGAHKAF ALYKAIEEGV NHMWTVSAFQ QHPRTIFVCD 250 EDATLELRVK TVKYFKGEH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning and functional characterization of GNPI2, a novel human homolog of glucosamine-6-phosphate isomerase/oscillin." Zhang J., Zhang W., Zou D., Chen G., Wan T., Li N., Cao X. J. Cell. Biochem. 88:932-940(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." 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. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]	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 Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Aortic endothelium.
[4]	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 Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT SER-182. Tissue: Uterus.
[6]	"The full-ORF clone resource of the German cDNA consortium." 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. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 120-276 (ISOFORM 1). Tissue: Kidney.
[7]	"Two mammalian glucosamine-6-phosphate deaminases: a structural and genetic study." Arreola R., Valderrama B., Morante M.L., Horjales E. FEBS Lett. 551:63-70(2003) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF247786 mRNA. Translation: AAL95691.1. AK055639 mRNA. Translation: BAB70977.1. AB209904 mRNA. Translation: BAD93141.1. Different initiation. CH471069 Genomic DNA. Translation: EAW93019.1. BC015532 mRNA. Translation: AAH15532.1. AL834506 mRNA. Translation: CAD39163.1.
IPI	IPI00550894. IPI00896466. IPI00896510.
RefSeq	NP_001257809.1. NM_001270880.1. NP_001257810.1. NM_001270881.1. NP_612208.1. NM_138335.2.
UniGene	Hs.21398. Hs.619562. Hs.741325.
3D structure databases
HSSP	HSSP built from PDB template 1NE7 based on UniProtKB P46926.
ProteinModelPortal	Q8TDQ7.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000295448.
PTM databases
PhosphoSite	Q8TDQ7.
Polymorphism databases
DMDM	74723936.
Proteomic databases
PaxDb	Q8TDQ7.
PRIDE	Q8TDQ7.
Protocols and materials databases
DNASU	132789.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000295448; ENSP00000295448; ENSG00000163281. ENST00000509756; ENSP00000424061; ENSG00000163281.
GeneID	132789.
KEGG	hsa:132789.
UCSC	uc003gwy.3. human. uc003gwz.1. human.
Organism-specific databases
CTD	132789.
GeneCards	GC04M044704.
HGNC	HGNC:21526. GNPDA2.
HPA	HPA000499.
MIM	613222. gene.
neXtProt	NX_Q8TDQ7.
PharmGKB	PA134939177.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0363.
HOGENOM	HOG000064979.
HOVERGEN	HBG002546.
InParanoid	Q8TDQ7.
KO	K02564.
OMA	IIAEHPI.
OrthoDB	EOG4F1X3Q.
PhylomeDB	Q8TDQ7.
Gene expression databases
ArrayExpress	Q8TDQ7.
Bgee	Q8TDQ7.
CleanEx	HS_GNPDA2.
Genevestigator	Q8TDQ7.
Family and domain databases
InterPro	IPR006148. Glc/Gal-6P_isomerase. IPR004547. Glucosamine6P_isomerase. IPR018321. Glucosamine6P_isomerase_CS. [Graphical view]
PANTHER	PTHR11280. PTHR11280. 1 hit.
Pfam	PF01182. Glucosamine_iso. 1 hit. [Graphical view]
TIGRFAMs	TIGR00502. nagB. 1 hit.
PROSITE	PS01161. GLC_GALNAC_ISOMERASE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	132789.
NextBio	83138.
SOURCE	Search...

Entry information

Entry name

GNPI2_HUMAN

Accession

Primary (citable) accession number: Q8TDQ7
Secondary accession number(s): Q59EA7 , Q8NCZ8, Q96BJ4, Q96NC6

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 1, 2008
Last sequence update:	June 1, 2002
Last modified:	May 1, 2013
This is version 84 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.