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    NIT1 nitrilase 1 [ Homo sapiens (human) ]

    Gene ID: 4817, updated on 12-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (161118105..161125445)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (160255512..160262920)
    RS_2024_09 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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage.
      Title: Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage.
    2. 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.
    3. 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.
    4. 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.
    5. Human NIT1/2 are not involved in the metabolism of vildagliptin.
      Title: Human nitrilase-like protein does not catalyze the hydrolysis of vildagliptin.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    7. 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)

    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 HTP 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_2024_08

    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

    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

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

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

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