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NIT1 nitrilase 1 [ Homo sapiens (human) ]

Gene ID: 4817, updated on 17-Jun-2024

Summary

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Official Symbol
NIT1provided by HGNC
Official Full Name
nitrilase 1provided by HGNC
Primary source
HGNC:HGNC:7828
See related
Ensembl:ENSG00000158793 MIM:604618; AllianceGenome:HGNC:7828
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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 isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
Expression
Ubiquitous expression in adrenal (RPKM 11.4), kidney (RPKM 10.4) and 25 other tissues See more
Orthologs
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Genomic context

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See NIT1 in Genome Data Viewer
Location:
1q23.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (161118105..161125445)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (160255512..160262920)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161087895..161095235)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1467 Neighboring gene kelch domain containing 9 Neighboring gene prefoldin subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1976 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161087283-161088263 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:161093620-161094120 Neighboring gene death effector domain containing Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:161101327-161102150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1469 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1977 Neighboring gene linc-UFC1 Neighboring gene small nucleolar RNA ACA64

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. NIT1 suppresses tumour proliferation by activating the TGFβ1-Smad2/3 signalling pathway in colorectal cancer. Lin C, et al. Cell Death Dis, 2018 Feb 15. PMID 29449642, Free PMC Article
  2. The Rosetta Stone Hypothesis-Based Interaction of the Tumor Suppressor Proteins Nit1 and Fhit. Mittag S, et al. Cells, 2023 Jan 17. PMID 36766695, Free PMC Article
  3. Human nitrilase-like protein does not catalyze the hydrolysis of vildagliptin. Asakura M, et al. Drug Metab Pharmacokinet, 2014. PMID 25008847
  4. Nitrilase 1 modulates lung tumor progression in vitro and in vivo. Wang YA, et al. Oncotarget, 2016 Apr 19. PMID 26967383, Free PMC Article
  5. Biological functions of mammalian Nit1, the counterpart of the invertebrate NitFhit Rosetta stone protein, a possible tumor suppressor. Semba S, et al. J Biol Chem, 2006 Sep 22. PMID 16864578

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The Rosetta Stone Hypothesis-Based Interaction of the Tumor Suppressor Proteins Nit1 and Fhit.
    Title: The Rosetta Stone Hypothesis-Based Interaction of the Tumor Suppressor Proteins Nit1 and Fhit.
  2. NIT1 suppresses colorectal cancer cell proliferation through a positive feedback loop between NIT1 and activation of the TGFbeta-Smad2/3 signalling pathway.
    Title: NIT1 suppresses tumour proliferation by activating the TGFβ1-Smad2/3 signalling pathway in colorectal cancer.
  3. Data show that cisplatin response was enhanced in human lung cancer cells when Nit1 was knocked down and mice Nit1-/-:KrasG12D/+ tumors showed increased sensitivity to cisplatin in vivo.
    Title: Nitrilase 1 modulates lung tumor progression in vitro and in vivo.
  4. Human NIT1/2 are not involved in the metabolism of vildagliptin.
    Title: Human nitrilase-like protein does not catalyze the hydrolysis of vildagliptin.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  6. Nit1 and Fhit share tumor suppressor signaling pathways, while localization of the NIT1 gene at a stable chromosome site explains the paucity of gene alterations and in frequent loss of expression of the NIT1 gene in human malignancies.
    Title: Biological functions of mammalian Nit1, the counterpart of the invertebrate NitFhit Rosetta stone protein, a possible tumor suppressor.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of nitrilase 1 (NIT1) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC57670

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables deaminated glutathione amidase activity ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
Process Evidence Code Pubs
involved_in amide catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in nucleus HDA PubMed 

General protein information

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Preferred Names
deaminated glutathione amidase
Names
dGSH amidase
NP_001172021.1
NP_001172022.1
NP_001172023.1
NP_005591.1
XP_005245271.1
XP_005245272.1
XP_005245273.1
XP_024303131.1
XP_047277373.1
XP_054192766.1
XP_054192767.1
XP_054192768.1
XP_054192769.1
XP_054192770.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001185092.2 → NP_001172021.1  deaminated glutathione amidase isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The resulting protein (isoform 2) has a shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    AI277603, AL591806, BC046149, CB111935
    Consensus CDS
    CCDS53401.1
    UniProtKB/Swiss-Prot
    Q86X76
    Related
    ENSP00000356987.1, ENST00000368008.5
    Conserved Domains (1) summary
    cl11424
    Location:48 → 240
    nitrilase; Nitrilase superfamily, including nitrile- or amide-hydrolyzing enzymes and amide-condensing enzymes

  2. NM_001185093.2 → NP_001172022.1  deaminated glutathione amidase isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks an exon in the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded protein (isoform 3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AF069987, AK296606, AL591806, BQ002524, DC302367
    Consensus CDS
    CCDS53402.1
    UniProtKB/TrEMBL
    B7Z410
    Related
    ENSP00000356986.4, ENST00000368007.8
    Conserved Domains (1) summary
    cd07572
    Location:33 → 300
    nit; Nit1, Nit 2, and related proteins, and the Nit1-like domain of NitFhit (class 10 nitrilases)

  3. NM_001185094.2 → NP_001172023.1  deaminated glutathione amidase isoform 4

    See identical proteins and their annotated locations for NP_001172023.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded protein (isoform 4) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AF069987, AL591806, BI752623, BQ002524, BX416745
    Consensus CDS
    CCDS53403.1
    UniProtKB/TrEMBL
    B7Z410
    Related
    ENSP00000376028.5, ENST00000392190.9
    Conserved Domains (1) summary
    cd07572
    Location:12 → 279
    nit; Nit1, Nit 2, and related proteins, and the Nit1-like domain of NitFhit (class 10 nitrilases)

  4. NM_005600.3 → NP_005591.1  deaminated glutathione amidase isoform 1

    See identical proteins and their annotated locations for NP_005591.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF069987, BQ002524, CB111935
    Consensus CDS
    CCDS1218.1
    UniProtKB/Swiss-Prot
    B1AQP3, D3DVF4, O76091, Q86X76
    UniProtKB/TrEMBL
    B2R8D1
    Related
    ENSP00000356988.2, ENST00000368009.7
    Conserved Domains (1) summary
    cd07572
    Location:48 → 315
    nit; Nit1, Nit 2, and related proteins, and the Nit1-like domain of NitFhit (class 10 nitrilases)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    161118105..161125445
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447363.2 → XP_024303131.1  deaminated glutathione amidase isoform X5

    Conserved Domains (1) summary
    cl11424
    Location:65 → 257
    nitrilase; Nitrilase superfamily, including nitrile- or amide-hydrolyzing enzymes and amide-condensing enzymes

  2. XM_047421417.1 → XP_047277373.1  deaminated glutathione amidase isoform X4

  3. XM_005245214.3 → XP_005245271.1  deaminated glutathione amidase isoform X2

    UniProtKB/TrEMBL
    B2R8D1
    Conserved Domains (1) summary
    cd07572
    Location:65 → 332
    nit; Nit1, Nit 2, and related proteins, and the Nit1-like domain of NitFhit (class 10 nitrilases)

  4. XM_005245216.5 → XP_005245273.1  deaminated glutathione amidase isoform X3

    See identical proteins and their annotated locations for XP_005245273.1

    UniProtKB/TrEMBL
    B7Z410
    Conserved Domains (1) summary
    cd07572
    Location:12 → 279
    nit; Nit1, Nit 2, and related proteins, and the Nit1-like domain of NitFhit (class 10 nitrilases)

  5. XM_005245215.6 → XP_005245272.1  deaminated glutathione amidase isoform X1

    See identical proteins and their annotated locations for XP_005245272.1

    UniProtKB/TrEMBL
    B2R8D1
    Conserved Domains (1) summary
    cd07572
    Location:65 → 332
    nit; Nit1, Nit 2, and related proteins, and the Nit1-like domain of NitFhit (class 10 nitrilases)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    160255512..160262920
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336792.1 → XP_054192767.1  deaminated glutathione amidase isoform X2

    UniProtKB/TrEMBL
    B2R8D1

  2. XM_054336795.1 → XP_054192770.1  deaminated glutathione amidase isoform X4

  3. XM_054336794.1 → XP_054192769.1  deaminated glutathione amidase isoform X5

  4. XM_054336791.1 → XP_054192766.1  deaminated glutathione amidase isoform X1

    UniProtKB/TrEMBL
    B2R8D1

  5. XM_054336793.1 → XP_054192768.1  deaminated glutathione amidase isoform X3

    UniProtKB/TrEMBL
    B7Z410
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86X76.2 GenPept UniProtKB/Swiss-Prot:Q86X76

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