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GLS (glutaminase)

Gene

2744

Glutaminase

GLS

AAD20, CASGID, DEE71, EIEE71, GAC, GAM, GDPAG, GLS1, KGA

2q32.2

This gene encodes the K-type mitochondrial glutaminase. The encoded protein is an phosphate-activated amidohydrolase that catalyzes the hydrolysis of glutamine to glutamate and ammonia. This protein is primarily expressed in the brain and kidney plays an

Show/Hide all(6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1212883982	->A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1558971345	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1558972120	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1558973667	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1558986214	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1559310284	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained

Show/Hide all(292)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018403	hsa-miR-335-5p	Microarray	18185580
MIRT025883	hsa-miR-7-5p	Microarray	17612493
MIRT025883	hsa-miR-7-5p	Microarray	19073608
MIRT734751	hsa-miR-146a-5p	Microarray, qRT-PCR	33610185
MIRT734752	hsa-miR-1260a	Microarray, qRT-PCR	33610185
MIRT734751	hsa-miR-146a-5p	Microarray, qRT-PCR	33610185
MIRT734754	hsa-miR-21-5p	Microarray, qRT-PCR	33610185
MIRT737336	hsa-miR-122-3p	Luciferase reporter assay, Western blotting, RNA-seq, qRT-PCR	32180557
MIRT755368	hsa-miR-137	Luciferase reporter assay, Western blotting	34958454
MIRT756434	hsa-miR-338-3p	Luciferase reporter assay, Western blotting, qRT-PCR	36050752
MIRT1021537	hsa-miR-1178	CLIP-seq
MIRT1021538	hsa-miR-133a	CLIP-seq
MIRT1021539	hsa-miR-133b	CLIP-seq
MIRT755368	hsa-miR-137	CLIP-seq
MIRT1021540	hsa-miR-141	CLIP-seq
MIRT1021541	hsa-miR-147	CLIP-seq
MIRT1021542	hsa-miR-151-3p	CLIP-seq
MIRT1021543	hsa-miR-188-5p	CLIP-seq
MIRT1021544	hsa-miR-200a	CLIP-seq
MIRT1021545	hsa-miR-203	CLIP-seq
MIRT1021546	hsa-miR-216b	CLIP-seq
MIRT1021547	hsa-miR-23a	CLIP-seq
MIRT1021548	hsa-miR-23b	CLIP-seq
MIRT1021549	hsa-miR-23c	CLIP-seq
MIRT1021550	hsa-miR-300	CLIP-seq
MIRT1021551	hsa-miR-3173-3p	CLIP-seq
MIRT1021552	hsa-miR-3545-5p	CLIP-seq
MIRT1021553	hsa-miR-361-3p	CLIP-seq
MIRT1021554	hsa-miR-381	CLIP-seq
MIRT1021555	hsa-miR-3925-3p	CLIP-seq
MIRT1021556	hsa-miR-3938	CLIP-seq
MIRT1021557	hsa-miR-4281	CLIP-seq
MIRT1021558	hsa-miR-4419a	CLIP-seq
MIRT1021559	hsa-miR-4445	CLIP-seq
MIRT1021560	hsa-miR-4463	CLIP-seq
MIRT1021561	hsa-miR-4495	CLIP-seq
MIRT1021562	hsa-miR-4499	CLIP-seq
MIRT1021563	hsa-miR-4510	CLIP-seq
MIRT1021564	hsa-miR-4666-3p	CLIP-seq
MIRT1021565	hsa-miR-4712-5p	CLIP-seq
MIRT1021566	hsa-miR-4762-5p	CLIP-seq
MIRT1021567	hsa-miR-4789-5p	CLIP-seq
MIRT1021568	hsa-miR-4802-5p	CLIP-seq
MIRT1021569	hsa-miR-499-3p	CLIP-seq
MIRT1021570	hsa-miR-499a-3p	CLIP-seq
MIRT1021571	hsa-miR-508-5p	CLIP-seq
MIRT1021572	hsa-miR-558	CLIP-seq
MIRT1021573	hsa-miR-599	CLIP-seq
MIRT1021574	hsa-miR-770-5p	CLIP-seq
MIRT1021575	hsa-miR-802	CLIP-seq
MIRT1021537	hsa-miR-1178	CLIP-seq
MIRT755368	hsa-miR-137	CLIP-seq
MIRT1549260	hsa-miR-2052	CLIP-seq
MIRT1549261	hsa-miR-214	CLIP-seq
MIRT1021547	hsa-miR-23a	CLIP-seq
MIRT1021548	hsa-miR-23b	CLIP-seq
MIRT1021549	hsa-miR-23c	CLIP-seq
MIRT1549262	hsa-miR-3074-3p	CLIP-seq
MIRT1549263	hsa-miR-340	CLIP-seq
MIRT1549264	hsa-miR-3619-5p	CLIP-seq
MIRT1549265	hsa-miR-3647-3p	CLIP-seq
MIRT1549266	hsa-miR-377	CLIP-seq
MIRT1549267	hsa-miR-383	CLIP-seq
MIRT1549268	hsa-miR-3978	CLIP-seq
MIRT1549269	hsa-miR-4261	CLIP-seq
MIRT1549270	hsa-miR-4291	CLIP-seq
MIRT1549271	hsa-miR-4311	CLIP-seq
MIRT1021558	hsa-miR-4419a	CLIP-seq
MIRT1549272	hsa-miR-4438	CLIP-seq
MIRT1021559	hsa-miR-4445	CLIP-seq
MIRT1549273	hsa-miR-4446-5p	CLIP-seq
MIRT1549274	hsa-miR-448	CLIP-seq
MIRT1549275	hsa-miR-4494	CLIP-seq
MIRT1021563	hsa-miR-4510	CLIP-seq
MIRT1549276	hsa-miR-4520a-3p	CLIP-seq
MIRT1549277	hsa-miR-4520b-3p	CLIP-seq
MIRT1549278	hsa-miR-4529-3p	CLIP-seq
MIRT1549279	hsa-miR-4719	CLIP-seq
MIRT1549280	hsa-miR-4766-5p	CLIP-seq
MIRT1549281	hsa-miR-4790-3p	CLIP-seq
MIRT1021568	hsa-miR-4802-5p	CLIP-seq
MIRT1549282	hsa-miR-513b	CLIP-seq
MIRT1549283	hsa-miR-579	CLIP-seq
MIRT1549284	hsa-miR-660	CLIP-seq
MIRT1549285	hsa-miR-761	CLIP-seq
MIRT1549286	hsa-miR-922	CLIP-seq
MIRT2002698	hsa-miR-3065-5p	CLIP-seq
MIRT2002699	hsa-miR-337-5p	CLIP-seq
MIRT2002700	hsa-miR-4485	CLIP-seq
MIRT1021537	hsa-miR-1178	CLIP-seq
MIRT2235663	hsa-miR-1287	CLIP-seq
MIRT1021538	hsa-miR-133a	CLIP-seq
MIRT1021539	hsa-miR-133b	CLIP-seq
MIRT755368	hsa-miR-137	CLIP-seq
MIRT1021540	hsa-miR-141	CLIP-seq
MIRT2235664	hsa-miR-142-5p	CLIP-seq
MIRT2235665	hsa-miR-15a	CLIP-seq
MIRT2235666	hsa-miR-15b	CLIP-seq
MIRT2235667	hsa-miR-16	CLIP-seq
MIRT2235668	hsa-miR-18a	CLIP-seq
MIRT2235669	hsa-miR-18b	CLIP-seq
MIRT2235670	hsa-miR-1914	CLIP-seq
MIRT2235671	hsa-miR-195	CLIP-seq
MIRT1021544	hsa-miR-200a	CLIP-seq
MIRT2235672	hsa-miR-202	CLIP-seq
MIRT1021545	hsa-miR-203	CLIP-seq
MIRT1549260	hsa-miR-2052	CLIP-seq
MIRT2235673	hsa-miR-2116	CLIP-seq
MIRT1549261	hsa-miR-214	CLIP-seq
MIRT2235674	hsa-miR-2355-3p	CLIP-seq
MIRT1021547	hsa-miR-23a	CLIP-seq
MIRT1021548	hsa-miR-23b	CLIP-seq
MIRT1021549	hsa-miR-23c	CLIP-seq
MIRT2235675	hsa-miR-2681	CLIP-seq
MIRT1021550	hsa-miR-300	CLIP-seq
MIRT1549262	hsa-miR-3074-3p	CLIP-seq
MIRT2235676	hsa-miR-3135b	CLIP-seq
MIRT2235677	hsa-miR-3185	CLIP-seq
MIRT2002699	hsa-miR-337-5p	CLIP-seq
MIRT1549263	hsa-miR-340	CLIP-seq
MIRT2235678	hsa-miR-34c-3p	CLIP-seq
MIRT2235679	hsa-miR-3612	CLIP-seq
MIRT1549264	hsa-miR-3619-5p	CLIP-seq
MIRT2235680	hsa-miR-3662	CLIP-seq
MIRT1549266	hsa-miR-377	CLIP-seq
MIRT1021554	hsa-miR-381	CLIP-seq
MIRT1021555	hsa-miR-3925-3p	CLIP-seq
MIRT2235681	hsa-miR-424	CLIP-seq
MIRT2235682	hsa-miR-425	CLIP-seq
MIRT2235683	hsa-miR-4254	CLIP-seq
MIRT1549270	hsa-miR-4291	CLIP-seq
MIRT1021558	hsa-miR-4419a	CLIP-seq
MIRT2235684	hsa-miR-4443	CLIP-seq
MIRT1021559	hsa-miR-4445	CLIP-seq
MIRT1549274	hsa-miR-448	CLIP-seq
MIRT2002700	hsa-miR-4485	CLIP-seq
MIRT1549275	hsa-miR-4494	CLIP-seq
MIRT1021561	hsa-miR-4495	CLIP-seq
MIRT2235685	hsa-miR-4509	CLIP-seq
MIRT1021563	hsa-miR-4510	CLIP-seq
MIRT1549276	hsa-miR-4520a-3p	CLIP-seq
MIRT1549277	hsa-miR-4520b-3p	CLIP-seq
MIRT2235686	hsa-miR-4643	CLIP-seq
MIRT2235687	hsa-miR-4646-3p	CLIP-seq
MIRT2235688	hsa-miR-466	CLIP-seq
MIRT1021564	hsa-miR-4666-3p	CLIP-seq
MIRT2235689	hsa-miR-4677-5p	CLIP-seq
MIRT1021565	hsa-miR-4712-5p	CLIP-seq
MIRT1549279	hsa-miR-4719	CLIP-seq
MIRT2235690	hsa-miR-4731-3p	CLIP-seq
MIRT2235691	hsa-miR-4735-3p	CLIP-seq
MIRT1549280	hsa-miR-4766-5p	CLIP-seq
MIRT2235692	hsa-miR-4789-3p	CLIP-seq
MIRT1021567	hsa-miR-4789-5p	CLIP-seq
MIRT1549281	hsa-miR-4790-3p	CLIP-seq
MIRT2235693	hsa-miR-4801	CLIP-seq
MIRT1021568	hsa-miR-4802-5p	CLIP-seq
MIRT2235694	hsa-miR-485-5p	CLIP-seq
MIRT2235695	hsa-miR-490-5p	CLIP-seq
MIRT2235696	hsa-miR-497	CLIP-seq
MIRT1021569	hsa-miR-499-3p	CLIP-seq
MIRT1021570	hsa-miR-499a-3p	CLIP-seq
MIRT1021571	hsa-miR-508-5p	CLIP-seq
MIRT2235697	hsa-miR-516a-5p	CLIP-seq
MIRT2235698	hsa-miR-561	CLIP-seq
MIRT2235699	hsa-miR-574-5p	CLIP-seq
MIRT2235700	hsa-miR-619	CLIP-seq
MIRT2235701	hsa-miR-648	CLIP-seq
MIRT2235702	hsa-miR-650	CLIP-seq
MIRT2235703	hsa-miR-676	CLIP-seq
MIRT2235704	hsa-miR-7	CLIP-seq
MIRT2235705	hsa-miR-759	CLIP-seq
MIRT1549285	hsa-miR-761	CLIP-seq
MIRT1021574	hsa-miR-770-5p	CLIP-seq
MIRT1021575	hsa-miR-802	CLIP-seq
MIRT1549286	hsa-miR-922	CLIP-seq
MIRT1021537	hsa-miR-1178	CLIP-seq
MIRT2388509	hsa-miR-127-5p	CLIP-seq
MIRT755368	hsa-miR-137	CLIP-seq
MIRT1021547	hsa-miR-23a	CLIP-seq
MIRT1021548	hsa-miR-23b	CLIP-seq
MIRT1021549	hsa-miR-23c	CLIP-seq
MIRT2388510	hsa-miR-4278	CLIP-seq
MIRT1549271	hsa-miR-4311	CLIP-seq
MIRT1021558	hsa-miR-4419a	CLIP-seq
MIRT1021559	hsa-miR-4445	CLIP-seq
MIRT1021563	hsa-miR-4510	CLIP-seq
MIRT1021564	hsa-miR-4666-3p	CLIP-seq
MIRT2388511	hsa-miR-4716-3p	CLIP-seq
MIRT1021568	hsa-miR-4802-5p	CLIP-seq
MIRT1021537	hsa-miR-1178	CLIP-seq
MIRT2429367	hsa-miR-1179	CLIP-seq
MIRT2388509	hsa-miR-127-5p	CLIP-seq
MIRT755368	hsa-miR-137	CLIP-seq
MIRT2429368	hsa-miR-2053	CLIP-seq
MIRT1549261	hsa-miR-214	CLIP-seq
MIRT1021547	hsa-miR-23a	CLIP-seq
MIRT1021548	hsa-miR-23b	CLIP-seq
MIRT1021549	hsa-miR-23c	CLIP-seq
MIRT2235675	hsa-miR-2681	CLIP-seq
MIRT1021550	hsa-miR-300	CLIP-seq
MIRT1549262	hsa-miR-3074-3p	CLIP-seq
MIRT1549263	hsa-miR-340	CLIP-seq
MIRT1549264	hsa-miR-3619-5p	CLIP-seq
MIRT1549265	hsa-miR-3647-3p	CLIP-seq
MIRT2429369	hsa-miR-3658	CLIP-seq
MIRT1021554	hsa-miR-381	CLIP-seq
MIRT1549270	hsa-miR-4291	CLIP-seq
MIRT1021558	hsa-miR-4419a	CLIP-seq
MIRT1021559	hsa-miR-4445	CLIP-seq
MIRT1549274	hsa-miR-448	CLIP-seq
MIRT1021563	hsa-miR-4510	CLIP-seq
MIRT1021564	hsa-miR-4666-3p	CLIP-seq
MIRT1549279	hsa-miR-4719	CLIP-seq
MIRT2235690	hsa-miR-4731-3p	CLIP-seq
MIRT1021567	hsa-miR-4789-5p	CLIP-seq
MIRT2235693	hsa-miR-4801	CLIP-seq
MIRT1021568	hsa-miR-4802-5p	CLIP-seq
MIRT2235695	hsa-miR-490-5p	CLIP-seq
MIRT1021569	hsa-miR-499-3p	CLIP-seq
MIRT1021570	hsa-miR-499a-3p	CLIP-seq
MIRT1549282	hsa-miR-513b	CLIP-seq
MIRT2429370	hsa-miR-621	CLIP-seq
MIRT2235704	hsa-miR-7	CLIP-seq
MIRT1549285	hsa-miR-761	CLIP-seq
MIRT1549286	hsa-miR-922	CLIP-seq
MIRT2450376	hsa-miR-4457	CLIP-seq
MIRT1549282	hsa-miR-513b	CLIP-seq
MIRT2450377	hsa-miR-548c-3p	CLIP-seq
MIRT2465351	hsa-miR-1	CLIP-seq
MIRT2465352	hsa-miR-1299	CLIP-seq
MIRT2465353	hsa-miR-1825	CLIP-seq
MIRT2465354	hsa-miR-199a-5p	CLIP-seq
MIRT2465355	hsa-miR-199b-5p	CLIP-seq
MIRT2465356	hsa-miR-206	CLIP-seq
MIRT2465357	hsa-miR-21	CLIP-seq
MIRT1549261	hsa-miR-214	CLIP-seq
MIRT1021546	hsa-miR-216b	CLIP-seq
MIRT2465358	hsa-miR-2278	CLIP-seq
MIRT2465359	hsa-miR-297	CLIP-seq
MIRT1549262	hsa-miR-3074-3p	CLIP-seq
MIRT2465360	hsa-miR-3163	CLIP-seq
MIRT2465361	hsa-miR-3166	CLIP-seq
MIRT1021551	hsa-miR-3173-3p	CLIP-seq
MIRT1549263	hsa-miR-340	CLIP-seq
MIRT2235678	hsa-miR-34c-3p	CLIP-seq
MIRT1021552	hsa-miR-3545-5p	CLIP-seq
MIRT1021553	hsa-miR-361-3p	CLIP-seq
MIRT1549264	hsa-miR-3619-5p	CLIP-seq
MIRT2235680	hsa-miR-3662	CLIP-seq
MIRT2465362	hsa-miR-3673	CLIP-seq
MIRT2465363	hsa-miR-3941	CLIP-seq
MIRT2465364	hsa-miR-3942-3p	CLIP-seq
MIRT1549268	hsa-miR-3978	CLIP-seq
MIRT1549269	hsa-miR-4261	CLIP-seq
MIRT2465365	hsa-miR-4274	CLIP-seq
MIRT1021557	hsa-miR-4281	CLIP-seq
MIRT1549270	hsa-miR-4291	CLIP-seq
MIRT2465366	hsa-miR-4427	CLIP-seq
MIRT1549272	hsa-miR-4438	CLIP-seq
MIRT2450376	hsa-miR-4457	CLIP-seq
MIRT1549274	hsa-miR-448	CLIP-seq
MIRT1549275	hsa-miR-4494	CLIP-seq
MIRT1021561	hsa-miR-4495	CLIP-seq
MIRT2465367	hsa-miR-4519	CLIP-seq
MIRT1549276	hsa-miR-4520a-3p	CLIP-seq
MIRT1549277	hsa-miR-4520b-3p	CLIP-seq
MIRT1549278	hsa-miR-4529-3p	CLIP-seq
MIRT2235688	hsa-miR-466	CLIP-seq
MIRT2465368	hsa-miR-4672	CLIP-seq
MIRT2465369	hsa-miR-4680-3p	CLIP-seq
MIRT2235690	hsa-miR-4731-3p	CLIP-seq
MIRT2465370	hsa-miR-4762-3p	CLIP-seq
MIRT1021566	hsa-miR-4762-5p	CLIP-seq
MIRT2465371	hsa-miR-4764-3p	CLIP-seq
MIRT2465372	hsa-miR-4771	CLIP-seq
MIRT2235693	hsa-miR-4801	CLIP-seq
MIRT1021569	hsa-miR-499-3p	CLIP-seq
MIRT1021570	hsa-miR-499a-3p	CLIP-seq
MIRT1549282	hsa-miR-513b	CLIP-seq
MIRT2450377	hsa-miR-548c-3p	CLIP-seq
MIRT2465373	hsa-miR-567	CLIP-seq
MIRT2465374	hsa-miR-590-5p	CLIP-seq
MIRT2465375	hsa-miR-613	CLIP-seq
MIRT2465376	hsa-miR-640	CLIP-seq
MIRT1549284	hsa-miR-660	CLIP-seq
MIRT1549285	hsa-miR-761	CLIP-seq
MIRT2465377	hsa-miR-875-3p	CLIP-seq
MIRT2465378	hsa-miR-9	CLIP-seq
MIRT1549286	hsa-miR-922	CLIP-seq
MIRT2465364	hsa-miR-3942-3p	CLIP-seq
MIRT2465378	hsa-miR-9	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
STAT1	Unknown	22479354

Show/Hide all(22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001967	Process	Suckling behavior	IEA
GO:0002087	Process	Regulation of respiratory gaseous exchange by nervous system process	IEA
GO:0004359	Function	Glutaminase activity	IBA	21873635
GO:0004359	Function	Glutaminase activity	IDA	22049910
GO:0004359	Function	Glutaminase activity	NAS	10719215, 11015561
GO:0005515	Function	Protein binding	IPI	16899818
GO:0005739	Component	Mitochondrion	IDA	16899818
GO:0005739	Component	Mitochondrion	NAS	10719215
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IEA
GO:0006537	Process	Glutamate biosynthetic process	IBA	21873635
GO:0006537	Process	Glutamate biosynthetic process	IDA	16899818, 22049910
GO:0006537	Process	Glutamate biosynthetic process	TAS	21757002
GO:0006543	Process	Glutamine catabolic process	IBA	21873635
GO:0006543	Process	Glutamine catabolic process	IDA	22049910
GO:0006543	Process	Glutamine catabolic process	NAS	10719215
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0008652	Process	Cellular amino acid biosynthetic process	TAS
GO:0014047	Process	Glutamate secretion	TAS
GO:0045202	Component	Synapse	IEA
GO:0051289	Process	Protein homotetramerization	IDA	22049910
GO:0090461	Process	Glutamate homeostasis	IMP	30239721

MIM	HGNC	e!Ensembl
138280	4331	ENSG00000115419

Protein

UniProt ID

O94925

Protein name

Glutaminase kidney isoform, mitochondrial (GLS) (EC 3.5.1.2) (K-glutaminase) (L-glutamine amidohydrolase) [Cleaved into: Glutaminase kidney isoform, mitochondrial 68 kDa chain; Glutaminase kidney isoform, mitochondrial 65 kDa chain]

Protein function

Catalyzes the first reaction in the primary pathway for the renal catabolism of glutamine. Plays a role in maintaining acid-base homeostasis. Regulates the levels of the neurotransmitter glutamate, the main excitatory neurotransmitter in the bra

PDB

3CZD , 3UNW , 3UO9 , 3VOY , 3VOZ , 3VP0 , 3VP1 , 3VP2 , 3VP3 , 3VP4 , 4O7D , 5D3O , 5FI2 , 5FI6 , 5FI7 , 5HL1 , 5I94 , 5JYO , 5JYP , 5U0I , 5U0J , 5UQE , 5WJ6 , 6LOX , 6UJG , 6UJM , 6UK6 , 6UKB , 6UL9 , 6ULA , 6ULJ , 6UMC , 6UMD , 6UME , 6UMF , 7REN , 7RGG , 7SBM , 7SBN , 8BSK , 8BSL , 8BSM , 8BSN , 8GWR , 8IMA , 8IMB , 8JUB , 8JUE , 8SZJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17959	EF-hand_14	139 → 222	EF-hand domain	Domain
PF04960	Glutaminase	244 → 530	Glutaminase	Domain
PF12796	Ank_2	557 → 649	Ankyrin repeats (3 copies)	Repeat

Sequence

MMRLRGSGMLRDLLLRSPAGVSATLRRAQPLVTLCRRPRGGGRPAAGPAAAARLHPWWGG
GGWPAEPLARGLSSSPSEILQELGKGSTHPQPGVSPPAAPAAPGPKDGPGETDAFGNSEG
KELVASGENKIKQGLLPSLEDLLFYTIAEGQEKIPVHKFITALKSTGLRTSDPRLKECMD
MLRLTLQTTSDGVMLDKDLFKKCVQSNIVLLTQAFRRKFVIPDFMSFTSHIDELYESAKK
QSGGKVADYIPQLAKFSPDLWGVSVCTVDGQRHSTGDTKVPFCLQSCVKPLKYAIAVNDL
GTEYVHRYVGKEPSGLRFNKLFLNEDDKPHNPMVNAGAIVVTSLIKQGVNNAEKFDYVMQ
FLNKMAGNEYVGFSNATFQSERESGDRNFAIGYYLKEKKCFPEGTDMVGILDFYFQLCSI
EVTCESASVMAATLANGGFCPITGERVLSPEAVRNTLSLMHSCGMYDFSGQFAFHVGLPA
KSGVAGGILLVVPNVMGMMCWSPPLDKMGNSVKGIHFCHDLVSLCNFHNYDNLRHFAKKL
DPRREGGDQRVKSVINLLFAAYTGDVSALRRFALSAMDMEQRDYDSRTALHVAAAEGHVE
VVKFLLEACKVNPFPKDRWNNTPMDEALHFGHHDVFKILQEYQVQYTPQGDSDNGKENQT
VHKNLDGLL

Sequence length

669

Interactions

View interactions

	KEGG		Reactome
	Arginine biosynthesis Alanine, aspartate and glutamate metabolism D-Amino acid metabolism Metabolic pathways Glutamatergic synapse GABAergic synapse Proximal tubule bicarbonate reclamation MicroRNAs in cancer Central carbon metabolism in cancer		Glutamate Neurotransmitter Release Cycle TP53 Regulates Metabolic Genes Glutamate and glutamine metabolism

Associated diseases

Show/Hide Causal Diseases (6)

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	18784066
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Developmental delay	Global developmental delay, Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Epileptic encephalopathy	Epileptic encephalopathy, Neonatal epileptic encephalopathy due to glutaminase deficiency	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325
Febrile seizures	Febrile Convulsions	rs121909761, rs121909672, rs121909673, rs121909674, rs1561645243, rs267606837, rs796052510, rs1553553485, rs1554097890, rs1554101202, rs1554098226, rs765574676, rs1045493304
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151

Show/Hide Unknown Diseases (5)

Unknown
Disease name	Disease term	dbSNP ID	References
Hyperkeratosis	Hyperkeratosis
Miscarriage	Miscarriage		18539642
Osteoarthrosis deformans	Osteoarthrosis Deformans		18784066
Respiratory failure	Respiratory Failure
Spastic ataxia-dysarthria	Spastic ataxia-dysarthria due to glutaminase deficiency

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