AiPD: Autoinhibited Protein Database

P46926

Gene name	GNPDA1
Protein name	Glucosamine-6-phosphate isomerase 1
Names	Glucosamine-6-phosphate deaminase 1, GNPDA 1, GlcN6P deaminase 1, Oscillin
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10007
EC number	3.5.99.6: In other compounds
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

242-289 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

242-289 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

2 structures for P46926

Entry ID	Method	Resolution	Chain	Position	Source
1NE7	X-ray	175 A	A/B/C/D/E/F	1-289	PDB
AF-P46926-F1	Predicted				AlphaFoldDB

174 variants for P46926

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777540120 CA3485232	6	L>P		No	ClinGen ExAC gnomAD
CA361565401 rs753862572	6	L>V		No	ClinGen ExAC TOPMed gnomAD
rs767356060 CA3485229	7	E>D		No	ClinGen ExAC gnomAD
rs752448652 CA3485230	7	E>G		No	ClinGen ExAC gnomAD
rs367695996 CA3485228	10	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA361565203 rs1387692675	12	A>G		No	ClinGen gnomAD
CA361565146 rs1445182325	14	E>K		No	ClinGen gnomAD
rs1338105023 CA361565100	15	W>*		No	ClinGen TOPMed gnomAD
rs1423891885 CA361565076	16	A>T		No	ClinGen gnomAD
rs374592670 CA3485226	16	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs907824370 CA128485668	17	A>P		No	ClinGen Ensembl
CA3485225 rs761772691	23	R>C		No	ClinGen ExAC gnomAD
rs1054193183 CA128485654	23	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA128485649 rs377106790	26	Q>R		No	ClinGen Ensembl
CA361564699 rs1425339902	28	N>K		No	ClinGen TOPMed gnomAD
rs769027389 CA3485223	28	N>S		No	ClinGen ExAC gnomAD
CA361564689 rs1379738554	29	P>S		No	ClinGen gnomAD
CA361564660 rs1377973849	30	G>E		No	ClinGen TOPMed
TCGA novel	30	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1245486560 CA361564617	32	E>G		No	ClinGen TOPMed
rs149155544 CA3485219	36	T>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs112192695 CA128485608	39	L>F		No	ClinGen gnomAD
CA3485169 rs779742093	43	S>R		No	ClinGen ExAC TOPMed gnomAD
rs771848794 CA3485168	44	T>P		No	ClinGen ExAC gnomAD
rs749519171 CA3485167	45	P>S		No	ClinGen ExAC gnomAD
rs762293462 CA128482942	46	L>F		No	ClinGen Ensembl
rs778024054 CA3485166	46	L>P		No	ClinGen ExAC gnomAD
rs756252170 CA3485165	47	G>A		No	ClinGen ExAC TOPMed
CA3485164 rs752760343	48	C>Y		No	ClinGen ExAC gnomAD
CA361561473 rs1365827713	51	K>N		No	ClinGen TOPMed
CA128482914 rs960253942	53	I>T		No	ClinGen gnomAD
rs763347425 CA3485159	56	Y>C		No	ClinGen ExAC gnomAD
rs750112475 CA3485158	59	G>E		No	ClinGen ExAC gnomAD
rs1374655322 CA361561212	60	D>N		No	ClinGen gnomAD
rs1442672209 CA361561161	62	S>F		No	ClinGen TOPMed gnomAD
CA361561091 rs1373212213	65	Y>F		No	ClinGen TOPMed
CA128482895 rs199749873	67	K>T		No	ClinGen 1000Genomes
rs1258865048 CA361561017	68	T>I		No	ClinGen TOPMed gnomAD
rs1258865048 CA361561012	68	T>N		No	ClinGen TOPMed gnomAD
CA128482888 rs371738765	71	M>V		No	ClinGen Ensembl
CA128482873 rs768237523	75	V>A		No	ClinGen ExAC gnomAD
CA3485153 rs768237523	75	V>G		No	ClinGen ExAC gnomAD
CA3485154 rs776281221	75	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	76	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1561571973 CA361559394	77	L>F		No	ClinGen Ensembl
rs775355999 CA3485133	78	P>L		No	ClinGen ExAC gnomAD
CA361559331 rs1281128211	79	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA361559343 rs1281128211	79	R>G		No	ClinGen TOPMed gnomAD
CA3485132 rs767475273	79	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1345682636 CA361559286	80	D>G		No	ClinGen gnomAD
rs1241532914 CA361559295	80	D>N		No	ClinGen TOPMed
rs759334566 CA3485131	82	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3485128 rs748419874	86	H>Y		No	ClinGen ExAC gnomAD
CA361559058 rs1359165455	87	S>F		No	ClinGen gnomAD
CA128481780 rs890386140	87	S>T		No	ClinGen TOPMed
CA361558993 rs1174650811	89	M>T		No	ClinGen TOPMed gnomAD
rs776805692 CA3485127	90	W>S		No	ClinGen ExAC gnomAD
CA3485126 rs768793423	91	N>D		No	ClinGen ExAC gnomAD
rs747101622 CA3485125	91	N>I		No	ClinGen ExAC gnomAD
CA361558901 rs779944285 CA3485124	91	N>K		No	ClinGen ExAC TOPMed gnomAD
rs758953488 CA3485123	92	N>S		No	ClinGen ExAC gnomAD
CA128481742 rs375642415	95	K>E		No	ClinGen Ensembl
CA361558719 rs1188125865	95	K>N		No	ClinGen TOPMed gnomAD
CA361558725 rs1259650117	95	K>R		No	ClinGen TOPMed gnomAD
rs746316983 CA3485122	96	H>N		No	ClinGen ExAC TOPMed gnomAD
CA3485121 rs779438309	96	H>P		No	ClinGen ExAC TOPMed gnomAD
CA361558705 rs779438309	96	H>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	96	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1435579135 CA361558661	97	I>M		No	ClinGen TOPMed
CA3485120 rs757672273	97	I>V		No	ClinGen ExAC gnomAD
rs752265162 CA3485116	106	I>S		No	ClinGen ExAC gnomAD
CA3485115 rs766897169	107	L>P		No	ClinGen ExAC gnomAD
CA3485114 rs759538921	108	D>E		No	ClinGen ExAC gnomAD
rs1335349012 CA361558169	110	N>T		No	ClinGen gnomAD
CA361558076 rs1170473988	113	D>G		No	ClinGen TOPMed gnomAD
rs766200160 CA3485112 COSM1063605	113	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1561571821 CA361557924	118	C>G		No	ClinGen Ensembl
CA3485110 rs773603626	120	A>D		No	ClinGen ExAC TOPMed gnomAD
CA361557851 rs773603626	120	A>V		No	ClinGen ExAC TOPMed gnomAD
CA128481650 rs1034863681	121	F>V		No	ClinGen Ensembl
CA361557707 rs1325973124	125	I>N		No	ClinGen gnomAD
CA361557710 rs1325973124	125	I>T		No	ClinGen gnomAD
rs200971161 CA3485107	127	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs779534094 CA3485105	131	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1410710823 CA361557487	132	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs757764672 CA3485103	135	V>I		No	ClinGen ExAC gnomAD
rs1251546816 CA361557341	136	G>E		No	ClinGen gnomAD
TCGA novel	137	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1449798524 CA563503703	138	I>R		No	ClinGen gnomAD
CA3485081 rs778304597	138	I>V		No	ClinGen ExAC gnomAD
CA3485079 rs747873200	139	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs780702689 CA3485078	144	I>T		No	ClinGen ExAC gnomAD
TCGA novel	145	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3485077 rs754572280	147	N>S		No	ClinGen ExAC gnomAD
rs1156777981 CA361556858	148	E>Q		No	ClinGen gnomAD
rs1197977521 CA361556770	152	S>C		No	ClinGen gnomAD
rs1197977521 CA361556768	152	S>R		No	ClinGen gnomAD
CA361556722 rs1561571315	154	V>E		No	ClinGen Ensembl
rs750315322 CA3485073	154	V>M		No	ClinGen ExAC TOPMed gnomAD
CA3485072 rs765132687	156	R>S		No	ClinGen ExAC gnomAD
CA128480958 rs947976893	156	R>T		No	ClinGen Ensembl
CA3485070 rs753033449	158	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361556663 rs753033449	158	R>G		No	ClinGen ExAC gnomAD
CA361556661 rs767622622	158	R>H		No	ClinGen ExAC gnomAD
CA3485069 rs767622622	158	R>L		No	ClinGen ExAC gnomAD
CA3485067 rs774577541	161	T>M		No	ClinGen ExAC TOPMed gnomAD
CA3485064 rs773560238	164	M>L		No	ClinGen ExAC gnomAD
rs1596734677 CA361556481	168	L>P		No	ClinGen Ensembl
CA3485063 rs545628408	169	A>D		No	ClinGen 1000Genomes ExAC gnomAD
CA361556441 rs1387896178	170	N>I		No	ClinGen TOPMed
rs1387896178 CA361556446	170	N>T		No	ClinGen TOPMed
TCGA novel	171	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361556379 rs1316381015	173	F>S		No	ClinGen gnomAD
CA361556356 rs1257210564	174	F>V		No	ClinGen gnomAD
rs368639771 CA3485062	175	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA3485061 rs374456271	180	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1273312070 CA361556179	181	V>L		No	ClinGen TOPMed
TCGA novel	182	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361556168 rs1430920759	182	P>S		No	ClinGen gnomAD
CA3485059 rs746621093 COSM1642644	187	T>M	Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1263060632 CA361555986	189	G>R		No	ClinGen gnomAD
CA3485057 rs146216672	189	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1265435429 CA361555959	190	V>M		No	ClinGen gnomAD
rs574416056 CA128480865	194	M>T		No	ClinGen Ensembl
rs1432985164 CA361555835	195	D>N		No	ClinGen gnomAD
CA361555785 rs1596734540	196	A>G		No	ClinGen Ensembl
CA3485053 rs753591503	197	R>G		No	ClinGen ExAC gnomAD
CA361555759 rs1451413614	197	R>S		No	ClinGen TOPMed
CA128480859 rs752006328	198	E>*		No	ClinGen gnomAD
CA3485034 rs757148099	201	I>T		No	ClinGen ExAC gnomAD
rs990086889 CA128479808	205	G>A		No	ClinGen Ensembl
CA128479809 rs867346180	205	G>S		No	ClinGen TOPMed
rs1285118208 CA361553199	207	H>R		No	ClinGen TOPMed
CA128479803 rs770774498	209	A>G		No	ClinGen TOPMed gnomAD
rs777733328 CA3485032	212	L>P		No	ClinGen ExAC gnomAD
rs755942554 CA3485031	214	K>R		No	ClinGen ExAC gnomAD
CA3485030 rs138526991	216	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs758634512 CA3485028	217	E>*		No	ClinGen ExAC TOPMed gnomAD
rs758634512 CA128479780	217	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs765316813 CA3485026	223	M>I		No	ClinGen ExAC TOPMed gnomAD
rs777169711 CA3485024	227	S>T		No	ClinGen ExAC gnomAD
TCGA novel	229	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1166152405 CA361552258	232	H>Q		No	ClinGen gnomAD
CA3485023 rs539324269	233	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs373357292 CA3485022	234	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs373357292 CA361552180	234	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3485021 rs370128744	234	R>H	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA128479748 rs998648002	235	T>A		No	ClinGen TOPMed
CA128479751 rs998648002	235	T>P		No	ClinGen TOPMed
rs762824840 CA128479740	236	V>L		No	ClinGen ExAC gnomAD
rs762824840 CA3485019	236	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs770426124 CA3485018 CA3485017	238	V>L		No	ClinGen ExAC gnomAD
rs377758422 CA128479727	241	E>K		No	ClinGen ESP TOPMed gnomAD
rs1214960687 CA361551834	243	A>T		No	ClinGen gnomAD
CA3485014 rs756028847	246	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
CA361551739 rs1286085647	246	E>K		No	ClinGen gnomAD
rs747969149 CA3485013	247	L>V		No	ClinGen ExAC gnomAD
rs781064204 CA3485012	248	K>T		No	ClinGen ExAC gnomAD
rs201692541 CA3485011	252	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA361551535 rs1406205830	252	V>I		No	ClinGen gnomAD
rs750605488 CA3485010	253	K>R		No	ClinGen ExAC gnomAD
rs1343953403 CA361551292	256	K>R		No	ClinGen gnomAD
CA128479234 rs370391780	266	V>A		No	ClinGen Ensembl
CA3484990 rs746522008	270	Y>*		No	ClinGen ExAC gnomAD
rs111304224 CA128479216	272	I>T		No	ClinGen Ensembl
CA3484989 rs779194491	274	E>A		No	ClinGen ExAC gnomAD
CA361550110 rs1317141181	274	E>K		No	ClinGen TOPMed
rs969155940 CA128479208	277	T>A		No	ClinGen TOPMed gnomAD
CA3484986 rs777766611	283	S>L		No	ClinGen ExAC TOPMed gnomAD
CA3484984 rs753156561	284	K>E		No	ClinGen ExAC gnomAD
rs1224560968 CA361549677	284	K>R		No	ClinGen gnomAD
rs748852443 CA128479200	286	P>S		No	ClinGen Ensembl
rs369295396 CA3484981	287	Y>*		No	ClinGen ESP ExAC gnomAD

No associated diseases with P46926

2 regional properties for P46926

Type	Name	Position	InterPro Accession
domain	Glucosamine/galactosamine-6-phosphate isomerase	18 - 232	IPR006148
conserved_site	Glucosamine-6-phosphate isomerase, conserved site	125 - 143	IPR018321

Functions

		Description
EC Number	3.5.99.6	In other compounds
Subcellular Localization	Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.

2 GO annotations of molecular function

Name	Definition
glucosamine-6-phosphate deaminase activity	Catalysis of the reaction: D-glucosamine 6-phosphate + H(2)O = beta-D-fructose 6-phosphate + NH(4)(+).
identical protein binding	Binding to an identical protein or proteins.

7 GO annotations of biological process

Name	Definition
carbohydrate metabolic process	The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y.
generation of precursor metabolites and energy	The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances.
glucosamine catabolic process	The chemical reactions and pathways resulting in the breakdown of glucosamine (2-amino-2-deoxyglucopyranose), an aminodeoxysugar that occurs in combined form in chitin.
N-acetylglucosamine catabolic process	The chemical reactions and pathways resulting in the breakdown of N-acetylglucosamine. The D isomer is a common structural unit of glycoproteins in plants, bacteria and animals; it is often the terminal sugar of an oligosaccharide group of a glycoprotein.
N-acetylneuraminate catabolic process	The chemical reactions and pathways resulting in the breakdown of N-acetylneuraminate, the anion of 5-(acetylamino)-3,5-dideoxy-D-glycero-D-galacto-non-3-ulosonic acid.
single fertilization	The union of male and female gametes to form a zygote.
UDP-N-acetylglucosamine biosynthetic process	The chemical reactions and pathways resulting in the formation of UDP-N-acetylglucosamine, a substance composed of N-acetylglucosamine, a common structural unit of oligosaccharides, in glycosidic linkage with uridine diphosphate.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MKLIILEHYS	QASEWAAKYI	RNRIIQFNPG	PEKYFTLGLP	TGSTPLGCYK	KLIEYYKNGD
70	80	90	100	110	120
LSFKYVKTFN	MDEYVGLPRD	HPESYHSFMW	NNFFKHIDIH	PENTHILDGN	AVDLQAECDA
130	140	150	160	170	180
FEEKIKAAGG	IELFVGGIGP	DGHIAFNEPG	SSLVSRTRVK	TLAMDTILAN	ARFFDGELTK
190	200	210	220	230	240
VPTMALTVGV	GTVMDAREVM	ILITGAHKAF	ALYKAIEEGV	NHMWTVSAFQ	QHPRTVFVCD
250	260	270	280
EDATLELKVK	TVKYFKGLML	VHNKLVDPLY	SIKEKETEKS	QSSKKPYSD