NIT1

Protein identityUniProt · HPA

UniProt accession

Q86X76

Gene

NIT1

Ensembl

ENSG00000158793

Chromosome

1

Canonical length

327 aa

Protein class

Enzymes, Predicted intracellular proteins

Subcellular location

Mitochondria,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

327 residues, UniProt reviewed canonical sequence.

>Q86X76|NIT1
     1  MLGFITRPPH RFLSLLCPGL RIPQLSVLCA QPRPRAMAIS SSSCELPLVA VCQVTSTPDK
    61  QQNFKTCAEL VREAARLGAC LAFLPEAFDF IARDPAETLH LSEPLGGKLL EEYTQLAREC
   121  GLWLSLGGFH ERGQDWEQTQ KIYNCHVLLN SKGAVVATYR KTHLCDVEIP GQGPMCESNS
   181  TMPGPSLESP VSTPAGKIGL AVCYDMRFPE LSLALAQAGA EILTYPSAFG SITGPAHWEV
   241  LLRARAIETQ CYVVAAAQCG RHHEKRASYG HSMVVDPWGT VVARCSEGPG LCLARIDLNY
   301  LRQLRRHLPV FQHRRPDLYG NLGHPLS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NIT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.31

Highest tissue expression

55 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NIT1.

Disease | AllUniProt

Conditions NIT1 is implicated in, by any mechanism.

• Brain small vessel disease 4 (BSVD4) MIM:621313

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 83 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Susceptibility to severe COVID-19
• Brain small vessel disease 4

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.09

gnomAD pLI

0

gnomAD missense Z

-0.6

DepMap mean gene effect

0.05

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• amide catabolic process

Molecular functions

• deaminated glutathione amidase activity

Cellular components

• cytoplasm
• mitochondrion
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Carbon-nitrogen hydrolase
• Carbon-nitrogen hydrolase superfamily
• Nit1/2, carbon-nitrogen hydrolase domain
• Carbon-nitrogen hydrolase
• Uncharacterised protein family UPF0012, conserved site

KeywordsUniProt

• Cytoplasm
• Hydrolase
• Mitochondrion
• Transit peptide