Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	4817
Gene name	Nitrilase 1
Gene symbol	NIT1
Synonyms (NCBI Gene)	-
Chromosome	1
Chromosome location	1q23.3
Summary	This gene encodes a member of the nitrilase protein family with homology to bacterial and plant nitrilases, enzymes that cleave nitriles and organic amides to the corresponding carboxylic acids plus ammonia. Multiple transcript variants encoding different

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miRTarBase ID	miRNA	Experiments	Reference
MIRT003233	hsa-miR-224-5p	Luciferase reporter assay	20065103
MIRT1185909	hsa-miR-1200	CLIP-seq
MIRT1185910	hsa-miR-1207-3p	CLIP-seq
MIRT1185911	hsa-miR-1224-3p	CLIP-seq
MIRT1185912	hsa-miR-1260	CLIP-seq
MIRT1185913	hsa-miR-1260b	CLIP-seq
MIRT1185914	hsa-miR-1280	CLIP-seq
MIRT1185915	hsa-miR-1301	CLIP-seq
MIRT1185916	hsa-miR-1914	CLIP-seq
MIRT1185917	hsa-miR-3124-3p	CLIP-seq
MIRT1185918	hsa-miR-3168	CLIP-seq
MIRT1185919	hsa-miR-3199	CLIP-seq
MIRT1185920	hsa-miR-3659	CLIP-seq
MIRT1185921	hsa-miR-3944-5p	CLIP-seq
MIRT1185922	hsa-miR-4324	CLIP-seq
MIRT1185923	hsa-miR-4446-5p	CLIP-seq
MIRT1185924	hsa-miR-4658	CLIP-seq
MIRT1185925	hsa-miR-4660	CLIP-seq
MIRT1185926	hsa-miR-4690-5p	CLIP-seq
MIRT1185927	hsa-miR-4755-5p	CLIP-seq
MIRT1185928	hsa-miR-4758-5p	CLIP-seq
MIRT1185929	hsa-miR-5047	CLIP-seq
MIRT1185930	hsa-miR-532-3p	CLIP-seq
MIRT1185931	hsa-miR-544b	CLIP-seq
MIRT1185932	hsa-miR-574-5p	CLIP-seq
MIRT1185933	hsa-miR-670	CLIP-seq
MIRT1185934	hsa-miR-1321	CLIP-seq
MIRT1185935	hsa-miR-196a	CLIP-seq
MIRT1185936	hsa-miR-196b	CLIP-seq
MIRT1185937	hsa-miR-3162-5p	CLIP-seq
MIRT1185938	hsa-miR-331-5p	CLIP-seq
MIRT1185939	hsa-miR-3612	CLIP-seq
MIRT1185940	hsa-miR-3927	CLIP-seq
MIRT1185941	hsa-miR-4739	CLIP-seq
MIRT1185942	hsa-miR-4756-5p	CLIP-seq
MIRT1185943	hsa-miR-650	CLIP-seq
MIRT1185944	hsa-miR-653	CLIP-seq
MIRT2053913	hsa-miR-3674	CLIP-seq
MIRT2053914	hsa-miR-4269	CLIP-seq
MIRT2053915	hsa-miR-4287	CLIP-seq
MIRT2053916	hsa-miR-4312	CLIP-seq
MIRT2053917	hsa-miR-4423-5p	CLIP-seq
MIRT2053918	hsa-miR-4438	CLIP-seq
MIRT2053919	hsa-miR-4469	CLIP-seq
MIRT2053920	hsa-miR-4639-5p	CLIP-seq
MIRT2053921	hsa-miR-4685-3p	CLIP-seq
MIRT1185926	hsa-miR-4690-5p	CLIP-seq
MIRT2053922	hsa-miR-4715-3p	CLIP-seq
MIRT2053923	hsa-miR-4735-5p	CLIP-seq
MIRT2053924	hsa-miR-4775	CLIP-seq
MIRT2053925	hsa-miR-4781-3p	CLIP-seq
MIRT2053926	hsa-miR-5095	CLIP-seq
MIRT2053927	hsa-miR-532-5p	CLIP-seq
MIRT2053928	hsa-miR-590-3p	CLIP-seq
MIRT2053929	hsa-miR-4690-3p	CLIP-seq
MIRT2581323	hsa-miR-125a-3p	CLIP-seq
MIRT2581324	hsa-miR-1254	CLIP-seq
MIRT2581323	hsa-miR-125a-3p	CLIP-seq
MIRT2581325	hsa-miR-127-5p	CLIP-seq
MIRT2581326	hsa-miR-3116	CLIP-seq
MIRT1185917	hsa-miR-3124-3p	CLIP-seq
MIRT2581327	hsa-miR-3184	CLIP-seq
MIRT2581328	hsa-miR-335	CLIP-seq
MIRT2581329	hsa-miR-3691-3p	CLIP-seq
MIRT2581330	hsa-miR-3934	CLIP-seq
MIRT2581331	hsa-miR-423-5p	CLIP-seq
MIRT2581332	hsa-miR-4256	CLIP-seq
MIRT2581333	hsa-miR-4300	CLIP-seq
MIRT2581334	hsa-miR-4418	CLIP-seq
MIRT2053929	hsa-miR-4690-3p	CLIP-seq
MIRT2581335	hsa-miR-4722-3p	CLIP-seq
MIRT2581336	hsa-miR-4738-3p	CLIP-seq
MIRT2581337	hsa-miR-4761-5p	CLIP-seq
MIRT2581338	hsa-miR-509-3-5p	CLIP-seq
MIRT2581339	hsa-miR-509-5p	CLIP-seq
MIRT2581340	hsa-miR-515-5p	CLIP-seq
MIRT2581341	hsa-miR-550a	CLIP-seq
MIRT2581342	hsa-miR-561	CLIP-seq
MIRT2581343	hsa-miR-622	CLIP-seq
MIRT2581344	hsa-miR-661	CLIP-seq
MIRT2581345	hsa-miR-764	CLIP-seq
MIRT2581346	hsa-miR-920	CLIP-seq
MIRT2581347	hsa-miR-939	CLIP-seq
MIRT2581323	hsa-miR-125a-3p	CLIP-seq
MIRT2581325	hsa-miR-127-5p	CLIP-seq
MIRT1185917	hsa-miR-3124-3p	CLIP-seq
MIRT2581328	hsa-miR-335	CLIP-seq
MIRT2581329	hsa-miR-3691-3p	CLIP-seq
MIRT2581330	hsa-miR-3934	CLIP-seq
MIRT2581332	hsa-miR-4256	CLIP-seq
MIRT2581334	hsa-miR-4418	CLIP-seq
MIRT2053929	hsa-miR-4690-3p	CLIP-seq
MIRT2581336	hsa-miR-4738-3p	CLIP-seq
MIRT2581337	hsa-miR-4761-5p	CLIP-seq
MIRT2581338	hsa-miR-509-3-5p	CLIP-seq
MIRT2581339	hsa-miR-509-5p	CLIP-seq
MIRT2581340	hsa-miR-515-5p	CLIP-seq
MIRT2581342	hsa-miR-561	CLIP-seq
MIRT2581343	hsa-miR-622	CLIP-seq
MIRT2581345	hsa-miR-764	CLIP-seq
MIRT2581323	hsa-miR-125a-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS	9671749
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS	9671749
GO:0016787	Function	Hydrolase activity	IEA
GO:0016811	Function	Hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	IEA
GO:0043605	Process	Amide catabolic process	IEA
GO:0043605	Process	Amide catabolic process	ISS	9671749
GO:0110050	Function	Deaminated glutathione amidase activity	IEA
GO:0110050	Function	Deaminated glutathione amidase activity	ISS	9671749

MIM	HGNC	e!Ensembl
604618	7828	ENSG00000158793

Q86X76

Protein name

Deaminated glutathione amidase (dGSH amidase) (EC 3.5.1.128) (Nitrilase homolog 1)

Protein function

Catalyzes the hydrolysis of the amide bond in N-(4-oxoglutarate)-L-cysteinylglycine (deaminated glutathione), a metabolite repair reaction to dispose of the harmful deaminated glutathione. Plays a role in cell growth and apoptosis: loss of expre

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00795	CN_hydrolase	48 → 306	Carbon-nitrogen hydrolase	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in heart, brain, placenta, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:9671749}.

Sequence

MLGFITRPPHRFLSLLCPGLRIPQLSVLCAQPRPRAMAISSSSCELPLVAVCQVTSTPDK
QQNFKTCAELVREAARLGACLAFLPEAFDFIARDPAETLHLSEPLGGKLLEEYTQLAREC
GLWLSLGGFHERGQDWEQTQKIYNCHVLLNSKGAVVATYRKTHLCDVEIPGQGPMCESNS
TMPGPSLESPVSTPAGKIGLAVCYDMRFPELSLALAQAGAEILTYPSAFGSITGPAHWEV
LLRARAIETQCYVVAAAQCGRHHEKRASYGHSMVVDPWGTVVARCSEGPGLCLARIDLNY
LRQLRRHLPVFQHRRPDLYGNLGHPLS

Sequence length

327

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Brain small vessel disease 4	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Cerebral Hemorrhage	Associate	38430071	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Associate	38430071	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Associate	31640787	★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Associate	38430071	★★★★★ ★☆☆☆☆ Found in Text Mining only
Porencephaly	Associate	38430071	★★★★★ ★☆☆☆☆ Found in Text Mining only

NIT1 (nitrilase 1)