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7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NIF3L1
NGG1 interacting factor 3 like 1
Chromosome 2 · 2q33.1
NCBI Gene: 60491Ensembl: ENSG00000196290.18HGNC: HGNC:13390UniProt: Q9GZT8
42PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpositive regulation of DNA-templated transcriptionRNA polymerase II-specific DNA-binding transcription factor bindingidentical protein bindingthyroid diseasecardiac arrhythmiachronic obstructive pulmonary diseaseHashimoto's thyroiditis
✦AI Summary

NIF3L1 (NGG1 interacting factor 3 like 1) is a highly conserved protein encoded on chromosome 2, with orthologs spanning bacteria to mammals 1. The protein localizes primarily to the cytoplasm but translocates to the nucleus during specific cellular processes 12. NIF3L1 functions as a transcriptional corepressor through cooperation with Trip15/CSN2 (COPS2), a component of the COP9 signalosome 2. This interaction negatively regulates neural differentiation by suppressing pluripotency factors (Oct-3/4) while inducing neuronal specification markers (Mash-1) 2. NIF3L1 interacts with itself and with NIF3L1 BP1, a novel cytoplasmic binding partner containing a putative leucine zipper domain, suggesting roles in protein complex formation 3. The protein exhibits ubiquitous expression throughout embryonic development and adult tissues, with particularly high levels in germ cell lineages 14. NIF3L1 also interacts with WBSCR14 and 14-3-3 proteins, affecting subcellular localization of transcriptional complexes 5. During sperm capacitation, NIF3L1 surface abundance increases through ubiquitin-proteasome system regulation, potentially influencing male gamete fertility 6. While highly conserved evolutionarily, NIF3L1 is not associated with amyotrophic lateral sclerosis despite mapping to the ALS2 critical region 7.

Sources cited
1
NIF3L1 acts as a transcriptional corepressor cooperating with Trip15/CSN2 in neural differentiation through suppression of Oct-3/4 and induction of Mash-1
PMID: 12522100
2
NIF3L1 is highly conserved from bacteria to mammals, localizes to cytoplasm, and shows ubiquitous expression with high levels in spermatogonia-derived cells
PMID: 11124544
3
NIF3L1 BP1 is a novel cytoplasmic interaction partner of NIF3L1 that interacts through a C-terminal domain containing a putative leucine zipper
PMID: 12951069
4
NIF3L1 BP1 expression increases steadily during mouse ontogenesis, suggesting roles in spermatogenesis and testicular function
PMID: 16465402
5
NIF3L1 interacts with WBSCR14 and 14-3-3 proteins, regulating subcellular localization of transcriptional complexes
PMID: 15163635
6
NIF3L1 abundance increases on sperm surface during capacitation through ubiquitin-proteasome system regulation, potentially affecting fertility
PMID: 37371576
7
NIF3L1 maps to chromosome 2q33-q34 (ALS2 critical region) but is not associated with amyotrophic lateral sclerosis
PMID: 11161814
Disease Associationsⓘ20
thyroid diseaseOpen Targets
0.08Suggestive
cardiac arrhythmiaOpen Targets
0.07Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.07Suggestive
Hashimoto's thyroiditisOpen Targets
0.06Suggestive
autoimmune diseaseOpen Targets
0.04Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.01Suggestive
dopa-responsive dystoniaOpen Targets
0.01Suggestive
endothelial dysfunctionOpen Targets
0.01Suggestive
HyperphenylalaninemiaOpen Targets
0.01Suggestive
DystoniaOpen Targets
0.01Suggestive
atherosclerosisOpen Targets
0.01Suggestive
Parkinson diseaseOpen Targets
0.01Suggestive
neuroblastomaOpen Targets
0.01Suggestive
diabetes mellitusOpen Targets
0.01Suggestive
ParkinsonismOpen Targets
0.01Suggestive
type 2 diabetes mellitusOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
glioblastomaOpen Targets
0.01Suggestive
pulmonary hypertensionOpen Targets
0.01Suggestive
dilated cardiomyopathyOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
OTPShared pathway100%LHX9Shared pathway100%LHX4Shared pathway100%LHX5Shared pathway100%THOC7Protein interaction96%COPS2Protein interaction78%
Tissue Expression6 tissues
Brain
100%
Heart
96%
Liver
68%
Ovary
56%
Lung
52%
Bone Marrow
50%
Gene Interaction Network
Click a node to explore
NIF3L1OTPLHX9LHX4LHX5THOC7COPS2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9GZT8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.02LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.52–1.02]
RankingsWhere NIF3L1 stands among ~20K protein-coding genes
  • #9,915of 20,598
    Most Researched42
  • #9,969of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedNIF3L1
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
The Ubiquitin-Proteasome System Participates in Sperm Surface Subproteome Remodeling during Boar Sperm Capacitation.
PMID: 37371576
Biomolecules · 2023
1.00
2
Gene expression in mouse spermatogenesis during ontogenesis.
PMID: 16465402
Int J Mol Med · 2006
0.86
3
The role of transcriptional corepressor Nif3l1 in early stage of neural differentiation via cooperation with Trip15/CSN2.
PMID: 12522100
J Biol Chem · 2003
0.71
4
Isolation and characterization of a novel human gene, NIF3L1, and its mouse ortholog, Nif3l1, highly conserved from bacteria to mammals.
PMID: 11124544
Cytogenet Cell Genet · 2000
0.57
5
The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3.
PMID: 15163635
Hum Mol Genet · 2004
0.43