Aliases for NIF3L1 Gene

Aliases for NIF3L1 Gene

  • NGG1 Interacting Factor 3 Like 1 2 3 5
  • Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 1 Protein 3 4
  • NIF3 (Ngg1 Interacting Factor 3, S.Pombe Homolog)-Like 1 2 3
  • NIF3 NGG1 Interacting Factor 3-Like 1 2 3
  • NIF3-Like Protein 1 3 4
  • ALS2CR1 3 4
  • Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 1 3
  • NIF3 NGG1 Interacting Factor 3-Like 1 (S. Cerevisiae) 2
  • NIF3 NGG1 Interacting Factor 3-Like 1 (S. Pombe) 2
  • Putative GTP Cyclohydrolase 1 Type 2 NIF3L1 3
  • GTP Cyclohydrolase I 3
  • CALS-7 3
  • MDS015 3

External Ids for NIF3L1 Gene

Previous HGNC Symbols for NIF3L1 Gene

  • ALS2CR1

Previous GeneCards Identifiers for NIF3L1 Gene

  • GC02P199971
  • GC02P200478
  • GC02P201718
  • GC02P201956
  • GC02P201579
  • GC02P201462
  • GC02P193605

Summaries for NIF3L1 Gene

GeneCards Summary for NIF3L1 Gene

NIF3L1 (NGG1 Interacting Factor 3 Like 1) is a Protein Coding gene. Diseases associated with NIF3L1 include Amyotrophic Lateral Sclerosis 2, Juvenile and Juvenile Amyotrophic Lateral Sclerosis. Gene Ontology (GO) annotations related to this gene include identical protein binding and hydrolase activity.

UniProtKB/Swiss-Prot Summary for NIF3L1 Gene

  • May function as a transcriptional corepressor through its interaction with COPS2, negatively regulating the expression of genes involved in neuronal differentiation.

Gene Wiki entry for NIF3L1 Gene

Additional gene information for NIF3L1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NIF3L1 Gene

Genomics for NIF3L1 Gene

GeneHancer (GH) Regulatory Elements for NIF3L1 Gene

Promoters and enhancers for NIF3L1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NIF3L1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NIF3L1

Top Transcription factor binding sites by QIAGEN in the NIF3L1 gene promoter:
  • AML1a
  • PPAR-gamma1
  • PPAR-gamma2
  • SRY

Genomic Locations for NIF3L1 Gene

Genomic Locations for NIF3L1 Gene
chr2:200,889,327-200,903,938
(GRCh38/hg38)
Size:
14,612 bases
Orientation:
Plus strand
chr2:201,754,050-201,768,655
(GRCh37/hg19)
Size:
14,606 bases
Orientation:
Plus strand

Genomic View for NIF3L1 Gene

Genes around NIF3L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NIF3L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NIF3L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NIF3L1 Gene

Proteins for NIF3L1 Gene

  • Protein details for NIF3L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZT8-NIF3L_HUMAN
    Recommended name:
    NIF3-like protein 1
    Protein Accession:
    Q9GZT8
    Secondary Accessions:
    • Q53TX4
    • Q6X735
    • Q9H2D2
    • Q9HC18

    Protein attributes for NIF3L1 Gene

    Size:
    377 amino acids
    Molecular mass:
    41968 Da
    Quaternary structure:
    • Homodimer (PubMed:12951069). Interacts with COPS2 (By similarity). Interacts with THOC7 (PubMed:12951069).
    SequenceCaution:
    • Sequence=AAG14952.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for NIF3L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NIF3L1 Gene

Post-translational modifications for NIF3L1 Gene

  • Ubiquitination at Lys109, Lys216, Lys234, and Lys242
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NIF3L1 Gene

Domains & Families for NIF3L1 Gene

Gene Families for NIF3L1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for NIF3L1 Gene

Blocks:
  • Protein of unknown function DUF34
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NIF3L1 Gene

GenScript: Design optimal peptide antigens:
  • Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 1 protein (NIF3L_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9GZT8

UniProtKB/Swiss-Prot:

NIF3L_HUMAN :
  • Belongs to the GTP cyclohydrolase I type 2/NIF3 family.
Family:
  • Belongs to the GTP cyclohydrolase I type 2/NIF3 family.
genes like me logo Genes that share domains with NIF3L1: view

Function for NIF3L1 Gene

Molecular function for NIF3L1 Gene

UniProtKB/Swiss-Prot Function:
May function as a transcriptional corepressor through its interaction with COPS2, negatively regulating the expression of genes involved in neuronal differentiation.

Phenotypes From GWAS Catalog for NIF3L1 Gene

Gene Ontology (GO) - Molecular Function for NIF3L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12951069
GO:0008134 transcription factor binding IPI 15163635
GO:0042802 identical protein binding IPI 12951069
genes like me logo Genes that share ontologies with NIF3L1: view
genes like me logo Genes that share phenotypes with NIF3L1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NIF3L1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NIF3L1 Gene

Localization for NIF3L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NIF3L1 Gene

Cytoplasm. Nucleus. Note=Interaction with COPS2 may regulate localization to the nucleus. {ECO:0000250 UniProtKB:Q9EQ80}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NIF3L1 gene
Compartment Confidence
mitochondrion 4
nucleus 4
peroxisome 1
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NIF3L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,ISS --
GO:0005737 cytoplasm IDA,IEA 12951069
GO:0005739 mitochondrion IBA 21873635
genes like me logo Genes that share ontologies with NIF3L1: view

Pathways & Interactions for NIF3L1 Gene

PathCards logo

SuperPathways for NIF3L1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NIF3L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030182 neuron differentiation ISS --
GO:0045893 positive regulation of transcription, DNA-templated IDA 15163635
GO:1903507 negative regulation of nucleic acid-templated transcription ISS --
genes like me logo Genes that share ontologies with NIF3L1: view

No data available for Pathways by source and SIGNOR curated interactions for NIF3L1 Gene

Drugs & Compounds for NIF3L1 Gene

No Compound Related Data Available

Transcripts for NIF3L1 Gene

mRNA/cDNA for NIF3L1 Gene

9 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NIF3L1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NIF3L1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9
SP1: - -
SP2:
SP3:
SP4: -
SP5: - - - -
SP6: -
SP7: -

Relevant External Links for NIF3L1 Gene

GeneLoc Exon Structure for
NIF3L1

Expression for NIF3L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NIF3L1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NIF3L1 Gene



Protein tissue co-expression partners for NIF3L1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NIF3L1

SOURCE GeneReport for Unigene cluster for NIF3L1 Gene:

Hs.145284

Evidence on tissue expression from TISSUES for NIF3L1 Gene

  • Nervous system(4.6)
  • Liver(4.2)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with NIF3L1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NIF3L1 Gene

Orthologs for NIF3L1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NIF3L1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NIF3L1 31 30
  • 99.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NIF3L1 31 30
  • 88.77 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NIF3L1 31 30
  • 88.51 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nif3l1 30
  • 85.83 (n)
mouse
(Mus musculus)
Mammalia Nif3l1 17 31 30
  • 85.73 (n)
oppossum
(Monodelphis domestica)
Mammalia NIF3L1 31
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NIF3L1 31
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves NIF3L1 31 30
  • 71 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NIF3L1 31
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101733905 30
  • 60.8 (n)
Str.4241 30
zebrafish
(Danio rerio)
Actinopterygii nif3l1 31 30
  • 54.94 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012228 30
  • 50.81 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4278 31 32 30
  • 48.99 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NIF3 33 31 30
  • 48.81 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR233W 30
  • 47.89 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A01518g 30
  • 46.64 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC126.12 30
  • 50.07 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06108 30
  • 49.58 (n)
Species where no ortholog for NIF3L1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NIF3L1 Gene

ENSEMBL:
Gene Tree for NIF3L1 (if available)
TreeFam:
Gene Tree for NIF3L1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NIF3L1: view image

Paralogs for NIF3L1 Gene

(1) SIMAP similar genes for NIF3L1 Gene using alignment to 6 proteins:

  • GTPC1_HUMAN
  • B8ZZI0_HUMAN
  • C9JN42_HUMAN
  • E7EXA3_HUMAN
  • H7C1A8_HUMAN
  • Q6X734_HUMAN

Pseudogenes.org Pseudogenes for NIF3L1 Gene

genes like me logo Genes that share paralogs with NIF3L1: view

No data available for Paralogs for NIF3L1 Gene

Variants for NIF3L1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NIF3L1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
720553 Benign: not provided 200,891,952(+) A/G SYNONYMOUS_VARIANT,INTRON_VARIANT
rs7917 - p.Thr324Ile

Additional dbSNP identifiers (rs#s) for NIF3L1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NIF3L1 Gene

Variant ID Type Subtype PubMed ID
nsv3109 CNV deletion 18451855

Variation tolerance for NIF3L1 Gene

Residual Variation Intolerance Score: 86.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.89; 89.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NIF3L1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NIF3L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NIF3L1 Gene

Disorders for NIF3L1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NIF3L1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 2, juvenile
  • als2
juvenile amyotrophic lateral sclerosis
  • amyotrophic lateral sclerosis, juvenile
williams-beuren syndrome
  • wbs
glass syndrome
  • glass
chromosome 22q11.2 duplication syndrome
  • chromosome 22q11.2 microduplication syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NIF3L1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NIF3L1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NIF3L1 Gene

Publications for NIF3L1 Gene

  1. Isolation and characterization of a novel human gene, NIF3L1, and its mouse ortholog, Nif3l1, highly conserved from bacteria to mammals. (PMID: 11124544) Tascou S … Burfeind P (Cytogenetics and cell genetics 2000) 2 3 4 23 54
  2. Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2. (PMID: 11161814) Hadano S … Hayden MR (Genomics 2001) 2 3 4 54
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for NIF3L1 Gene

Sources for NIF3L1 Gene