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NIT1 nitrilase 1 [ Homo sapiens (human) ]

Gene ID: 4817, updated on 18-Aug-2020

Summary

Official Symbol
NIT1provided by HGNC
Official Full Name
nitrilase 1provided by HGNC
Primary source
HGNC:HGNC:7828
See related
Ensembl:ENSG00000158793 MIM:604618
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

Genomic context

See NIT1 in Genome Data Viewer
Location:
1q23.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (161118092..161125446)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161087862..161095235)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene kelch domain containing 9 Neighboring gene prefoldin subunit 2 Neighboring gene death effector domain containing Neighboring gene linc-UFC1 Neighboring gene ubiquitin-fold modifier conjugating enzyme 1 Neighboring gene ubiquitin specific peptidase 21

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC57670

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides IEA
Inferred from Electronic Annotation
more info
 
nitrilase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
nitrogen compound metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nucleus HDA PubMed 

General protein information

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_016856860.1
XP_024303131.1

NCBI Reference Sequences (RefSeq)

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_001185092.2NP_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:48240
    nitrilase; Nitrilase superfamily, including nitrile- or amide-hydrolyzing enzymes and amide-condensing enzymes
  2. NM_001185093.2NP_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/Swiss-Prot
    Q86X76
    UniProtKB/TrEMBL
    B7Z410
    Related
    ENSP00000356986.4, ENST00000368007.8
    Conserved Domains (1) summary
    cd07572
    Location:33300
    nit; Nit1, Nit 2, and related proteins, and the Nit1-like domain of NitFhit (class 10 nitrilases)
  3. NM_001185094.2NP_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/Swiss-Prot
    Q86X76
    Related
    ENSP00000376028.5, ENST00000392190.9
    Conserved Domains (1) summary
    cd07572
    Location:12279
    nit; Nit1, Nit 2, and related proteins, and the Nit1-like domain of NitFhit (class 10 nitrilases)
  4. NM_005600.3NP_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
    Q86X76
    Related
    ENSP00000356988.2, ENST00000368009.7
    Conserved Domains (1) summary
    cd07572
    Location:48315
    nit; Nit1, Nit 2, and related proteins, and the Nit1-like domain of NitFhit (class 10 nitrilases)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    161118092..161125446
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005245215.5XP_005245272.1  deaminated glutathione amidase isoform X2

    See identical proteins and their annotated locations for XP_005245272.1

    Conserved Domains (1) summary
    cd07572
    Location:65332
    nit; Nit1, Nit 2, and related proteins, and the Nit1-like domain of NitFhit (class 10 nitrilases)
  2. XM_024447363.1XP_024303131.1  deaminated glutathione amidase isoform X4

    Conserved Domains (1) summary
    cl11424
    Location:65257
    nitrilase; Nitrilase superfamily, including nitrile- or amide-hydrolyzing enzymes and amide-condensing enzymes
  3. XM_005245214.2XP_005245271.1  deaminated glutathione amidase isoform X1

    Conserved Domains (1) summary
    cd07572
    Location:65332
    nit; Nit1, Nit 2, and related proteins, and the Nit1-like domain of NitFhit (class 10 nitrilases)
  4. XM_005245216.4XP_005245273.1  deaminated glutathione amidase isoform X3

    See identical proteins and their annotated locations for XP_005245273.1

    UniProtKB/Swiss-Prot
    Q86X76
    Conserved Domains (1) summary
    cd07572
    Location:12279
    nit; Nit1, Nit 2, and related proteins, and the Nit1-like domain of NitFhit (class 10 nitrilases)
  5. XM_017001371.1XP_016856860.1  deaminated glutathione amidase isoform X5

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