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Protein

Deaminated glutathione amidase

Gene

NIT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

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 expression promotes cell growth, resistance to DNA damage stress and increased incidence to NMBA-induced tumors. Has tumor suppressor properties that enhances the apoptotic responsiveness in cancer cells; this effect is additive to the tumor suppressor activity of FHIT. It is also a negative regulator of primary T-cells.By similarity

Miscellaneous

According to Rosetta Stone theory, the existence of a fusion protein in one genome predicts that the separate polypeptides expressed in other organisms function in the same cellular or biochemical pathway. In Drosophila melanogaster and Caenorhabditis elegans, NitFhit is a fusion protein composed of a C-terminal Fhit domain and a domain related to plant and bacterial nitrilase.

Catalytic activityi

N-(4-oxoglutarate)-L-cysteinylglycine + H2O = 2-oxoglutarate + L-cysteinylglycine.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei86Proton acceptorPROSITE-ProRule annotation1
Active sitei161Proton donorPROSITE-ProRule annotation1
Active sitei203NucleophilePROSITE-ProRule annotation1

GO - Molecular functioni

  • nitrilase activity Source: ProtInc

GO - Biological processi

Keywordsi

Molecular functionHydrolase

Names & Taxonomyi

Protein namesi
Recommended name:
Deaminated glutathione amidase (EC:3.5.1.-By similarity)
Short name:
dGSH amidase
Alternative name(s):
Nitrilase homolog 1
Gene namesi
Name:NIT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000158793.13.
HGNCiHGNC:7828. NIT1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Mitochondrion

Pathology & Biotechi

Organism-specific databases

DisGeNETi4817.
OpenTargetsiENSG00000158793.
PharmGKBiPA31636.

Polymorphism and mutation databases

BioMutaiNIT1.
DMDMi51704324.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 13MitochondrionSequence analysisAdd BLAST13
ChainiPRO_000021325114 – 327Deaminated glutathione amidaseSequence analysisAdd BLAST314

Proteomic databases

EPDiQ86X76.
MaxQBiQ86X76.
PaxDbiQ86X76.
PeptideAtlasiQ86X76.
PRIDEiQ86X76.

PTM databases

iPTMnetiQ86X76.
PhosphoSitePlusiQ86X76.

Expressioni

Tissue specificityi

Detected in heart, brain, placenta, liver, skeletal muscle, kidney and pancreas.1 Publication

Gene expression databases

BgeeiENSG00000158793.
CleanExiHS_NIT1.
GenevisibleiQ86X76. HS.

Organism-specific databases

HPAiHPA006657.

Interactioni

Protein-protein interaction databases

BioGridi110882. 58 interactors.
IntActiQ86X76. 4 interactors.
MINTiMINT-1194030.
STRINGi9606.ENSP00000356988.

Structurei

3D structure databases

ProteinModelPortaliQ86X76.
SMRiQ86X76.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini46 – 298CN hydrolasePROSITE-ProRule annotationAdd BLAST253

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG0807. Eukaryota.
COG0388. LUCA.
GeneTreeiENSGT00550000075099.
HOGENOMiHOG000222700.
HOVERGENiHBG052628.
InParanoidiQ86X76.
OMAiAAWVKGP.
OrthoDBiEOG091G0IKZ.
PhylomeDBiQ86X76.
TreeFamiTF313080.

Family and domain databases

Gene3Di3.60.110.10. 1 hit.
InterProiView protein in InterPro
IPR003010. C-N_Hydrolase.
IPR036526. C-N_Hydrolase_sf.
IPR001110. UPF0012_CS.
PfamiView protein in Pfam
PF00795. CN_hydrolase. 1 hit.
SUPFAMiSSF56317. SSF56317. 1 hit.
PROSITEiView protein in PROSITE
PS50263. CN_HYDROLASE. 1 hit.
PS01227. UPF0012. 1 hit.

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 2 (identifier: Q86X76-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MLGFITRPPH RFLSLLCPGL RIPQLSVLCA QPRPRAMAIS SSSCELPLVA
60 70 80 90 100
VCQVTSTPDK QQNFKTCAEL VREAARLGAC LAFLPEAFDF IARDPAETLH
110 120 130 140 150
LSEPLGGKLL EEYTQLAREC GLWLSLGGFH ERGQDWEQTQ KIYNCHVLLN
160 170 180 190 200
SKGAVVATYR KTHLCDVEIP GQGPMCESNS TMPGPSLESP VSTPAGKIGL
210 220 230 240 250
AVCYDMRFPE LSLALAQAGA EILTYPSAFG SITGPAHWEV LLRARAIETQ
260 270 280 290 300
CYVVAAAQCG RHHEKRASYG HSMVVDPWGT VVARCSEGPG LCLARIDLNY
310 320
LRQLRRHLPV FQHRRPDLYG NLGHPLS
Note: Major isoform.
Length:327
Mass (Da):35,896
Last modified:August 31, 2004 - v2
Checksum:i90F7FB9D4BA627B1
GO
Isoform 1 (identifier: Q86X76-2) [UniParc]FASTAAdd to basket
Also known as: 3

The sequence of this isoform differs from the canonical sequence as follows:
     1-36: Missing.

Show »
Length:291
Mass (Da):31,859
Checksum:i314677E205F7ADDE
GO
Isoform 4 (identifier: Q86X76-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-31: MLGFITRPPHRFLSLLCPGLRIPQLSVLCAQ → MVLAISSCWA...PGRTYSLSRR
     327-327: S → SDLTSVSLDLPLPPPPCHYELVLM

Show »
Length:367
Mass (Da):40,200
Checksum:i178F0C4BBFE65D25
GO
Isoform 5 (identifier: Q86X76-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-33: MLGFITRPPHRFLSLLCPGLRIPQLSVLCAQPR → MTFGLRKRLSEERGFSLM

Show »
Length:312
Mass (Da):34,323
Checksum:iA0BFFE4B76D24EE0
GO
Isoform 6 (identifier: Q86X76-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     240-243: VLLR → PVSS
     244-327: Missing.

Note: Based on a naturally occurring readthrough transcript which produces a NIT1-DEDD fusion protein. The last 4 amino acids of this isoform (PVSS) are encoded by the last DEDD exon. No experimental confirmation available.
Show »
Length:243
Mass (Da):26,326
Checksum:i283B9E8D6A4EF67D
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti79A → P in AAH46149 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0115461 – 36Missing in isoform 1. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_0115451 – 33MLGFI…CAQPR → MTFGLRKRLSEERGFSLM in isoform 5. 1 PublicationAdd BLAST33
Alternative sequenceiVSP_0115441 – 31MLGFI…VLCAQ → MVLAISSCWASSPGLLTDSC PFCVLDSGYLNSQYFVLSPG RTYSLSRR in isoform 4. 1 PublicationAdd BLAST31
Alternative sequenceiVSP_053711240 – 243VLLR → PVSS in isoform 6. 1 Publication4
Alternative sequenceiVSP_053712244 – 327Missing in isoform 6. 1 PublicationAdd BLAST84
Alternative sequenceiVSP_011547327S → SDLTSVSLDLPLPPPPCHYE LVLM in isoform 4. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF069984 Genomic DNA. Translation: AAC39901.1.
AF069987 mRNA. Translation: AAC39907.1.
CR541814 mRNA. Translation: CAG46613.1.
CR541846 mRNA. Translation: CAG46644.1.
AL591806 Genomic DNA. Translation: CAI15379.1.
CH471121 Genomic DNA. Translation: EAW52656.1.
CH471121 Genomic DNA. Translation: EAW52654.1.
CH471121 Genomic DNA. Translation: EAW52657.1.
BC046149 mRNA. Translation: AAH46149.1.
CCDSiCCDS1218.1. [Q86X76-1]
CCDS53401.1. [Q86X76-5]
CCDS53402.1. [Q86X76-4]
CCDS53403.1. [Q86X76-2]
RefSeqiNP_001172021.1. NM_001185092.1. [Q86X76-5]
NP_001172022.1. NM_001185093.1. [Q86X76-4]
NP_001172023.1. NM_001185094.1. [Q86X76-2]
NP_005591.1. NM_005600.2. [Q86X76-1]
XP_005245273.1. XM_005245216.3. [Q86X76-2]
UniGeneiHs.146406.

Genome annotation databases

EnsembliENST00000368007; ENSP00000356986; ENSG00000158793. [Q86X76-4]
ENST00000368008; ENSP00000356987; ENSG00000158793. [Q86X76-5]
ENST00000368009; ENSP00000356988; ENSG00000158793. [Q86X76-1]
ENST00000392190; ENSP00000376028; ENSG00000158793. [Q86X76-2]
GeneIDi4817.
KEGGihsa:4817.
UCSCiuc001fxv.3. human. [Q86X76-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiNIT1_HUMAN
AccessioniPrimary (citable) accession number: Q86X76
Secondary accession number(s): B1AQP3, D3DVF4, O76091
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2004
Last sequence update: August 31, 2004
Last modified: October 25, 2017
This is version 125 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families