Free for academic non-profit institutions. Other users need a Commercial license

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
  • 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
  • NIF3-Like Protein 1 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 Williams-Beuren Syndrome and Juvenile Amyotrophic Lateral Sclerosis. GO annotations related to this gene include identical protein binding and hydrolase activity.

UniProtKB/Swiss-Prot 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

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NIF3L1 Gene

Genomics for NIF3L1 Gene

Regulatory Elements for NIF3L1 Gene

Enhancers for NIF3L1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F200860 0.6 ENCODE 11.8 -26.6 -26589 6.0 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 PPIL3 NIF3L1 BZW1 LOC101927795 ORC2 LOC100420110 CASP8 ENSG00000252759 GC02M200864 RNA5SP115
GH02F200912 0.3 FANTOM5 11.7 +23.1 23133 0.2 HLF CASP10 NIF3L1 PPIL3 RNU6-312P LOC105373835 ORC2 CFLAR FAM126B GC02M200915 RNU6-762P
GH02F201089 0.2 ENCODE 11.5 +200.6 200571 0.1 YY1 RNU6-312P CFLAR CFLAR-AS1 NIF3L1 PPIL3 LOC105373835 ORC2 ENSG00000273975 RNU6-1206P
GH02F201093 0.4 Ensembl 11.5 +204.7 204650 0.8 NRF1 IRF1 RNU6-312P PPIL3 CFLAR CFLAR-AS1 NIF3L1 LOC105373835 ORC2 ENSG00000273975 RNU6-1206P
GH02F201090 0.2 ENCODE 11.5 +201.1 201130 0.0 CFLAR CFLAR-AS1 NIF3L1 PPIL3 RNU6-312P LOC105373835 ORC2 ENSG00000273975 RNU6-1206P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around NIF3L1 on UCSC Golden Path with GeneCards custom track

Genomic Location for NIF3L1 Gene

Chromosome:
2
Start:
200,889,327 bp from pter
End:
200,903,932 bp from pter
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; Positions=104, 109; 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 Lys 216, Lys 234, and Lys 242
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NIF3L1 Gene

Domains & Families for NIF3L1 Gene

Protein Domains for NIF3L1 Gene

Suggested Antigen Peptide Sequences for NIF3L1 Gene

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

No data available for Gene Families for NIF3L1 Gene

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.

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

Phenotypes for NIF3L1 Gene

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

Animal Model Products

Flow Cytometry 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
Jensen Localization Image for NIF3L1 Gene COMPARTMENTS Subcellular localization image for NIF3L1 gene
Compartment Confidence
nucleus 5
mitochondrion 4
peroxisome 2
cytosol 1

Gene Ontology (GO) - Cellular Components for NIF3L1 Gene

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

Pathways & Interactions for NIF3L1 Gene

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

Transcripts for NIF3L1 Gene

Unigene Clusters for NIF3L1 Gene

NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae):
Representative Sequences:

Flow Cytometry 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
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for NIF3L1 Gene



Protein tissue co-expression partners for NIF3L1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NIF3L1 Gene:

NIF3L1

SOURCE GeneReport for Unigene cluster for NIF3L1 Gene:

Hs.145284
genes like me logo Genes that share expression patterns with NIF3L1: view

Primer Products

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 and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.47 (n)
dog
(Canis familiaris)
Mammalia NIF3L1 34 35
  • 88.77 (n)
cow
(Bos Taurus)
Mammalia NIF3L1 34 35
  • 88.51 (n)
rat
(Rattus norvegicus)
Mammalia Nif3l1 34
  • 85.83 (n)
mouse
(Mus musculus)
Mammalia Nif3l1 34 16 35
  • 85.73 (n)
oppossum
(Monodelphis domestica)
Mammalia NIF3L1 35
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NIF3L1 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves NIF3L1 34 35
  • 71 (n)
lizard
(Anolis carolinensis)
Reptilia NIF3L1 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101733905 34
  • 60.8 (n)
Str.4241 34
zebrafish
(Danio rerio)
Actinopterygii nif3l1 34 35
  • 54.94 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012228 34
  • 50.81 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4278 36 34 35
  • 48.99 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NIF3 34 35 37
  • 48.81 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR233W 34
  • 47.89 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A01518g 34
  • 46.64 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC126.12 34
  • 50.07 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06108 34
  • 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)

Paralogs for NIF3L1 Gene

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

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 from dbSNP and Humsavar for NIF3L1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs10164957 -- 200,894,215(+) CCTCA(A/G)ACCTT intron-variant
rs10204787 -- 200,897,424(+) GCTAT(A/G)TGTTC intron-variant
rs10204951 -- 200,888,628(+) tcaag(C/T)gattg intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs10497855 -- 200,901,513(+) TATCC(A/G)GCTAG intron-variant
rs111457170 -- 200,900,289(+) ATTAC(G/T)TTATG intron-variant

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger syndrome
juvenile amyotrophic lateral sclerosis
  • amyotrophic lateral sclerosis, juvenile
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NIF3L1

Genetic Association Database (GAD)
NIF3L1
Human Genome Epidemiology (HuGE) Navigator
NIF3L1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NIF3L1
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. (Cytogenet. Cell Genet. 2000) 2 3 4 22 64
  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 M.R. (Genomics 2001) 2 3 4 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for NIF3L1 Gene

Sources for NIF3L1 Gene

Content
Loading form....