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Aliases for NFIA Gene

Aliases for NFIA Gene

  • Nuclear Factor I A 2 3
  • Nuclear Factor I/A 2 3 4 5
  • CCAAT-Box-Binding Transcription Factor 3 4
  • TGGCA-Binding Protein 3 4
  • NF-I/A 3 4
  • NF1-A 3 4
  • NFI-A 3 4
  • CTF 3 4
  • Nuclear Factor 1/A 4
  • KIAA1439 4
  • NFI-L 3

External Ids for NFIA Gene

Previous GeneCards Identifiers for NFIA Gene

  • GC01P061481
  • GC01P060471
  • GC01P060905
  • GC01P060917
  • GC01P060918
  • GC01P061260
  • GC01P061103
  • GC01P059635

Summaries for NFIA Gene

Entrez Gene Summary for NFIA Gene

  • This gene encodes a member of the NF1 (nuclear factor 1) family of transcription factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

GeneCards Summary for NFIA Gene

NFIA (Nuclear Factor I A) is a Protein Coding gene. Diseases associated with NFIA include chromosome 1p32-p31 deletion syndrome and leukemia, acute promyelocytic, somatic. Among its related pathways are Gene Expression and FOXA1 transcription factor network. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is NFIX.

UniProtKB/Swiss-Prot for NFIA Gene

  • Recognizes and binds the palindromic sequence 5-TTGGCNNNNNGCCAA-3 present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication.

Gene Wiki entry for NFIA Gene

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

Genomics for NFIA Gene

Regulatory Elements for NFIA Gene

Genomic Location for NFIA Gene

Chromosome:
1
Start:
60,865,259 bp from pter
End:
61,462,793 bp from pter
Size:
597,535 bases
Orientation:
Plus strand

Genomic View for NFIA Gene

Genes around NFIA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for NFIA Gene

Proteins for NFIA Gene

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

    Protein Symbol:
    Q12857-NFIA_HUMAN
    Recommended name:
    Nuclear factor 1 A-type
    Protein Accession:
    Q12857
    Secondary Accessions:
    • B4DRJ3
    • B4DS53
    • F5H0R0
    • F8W8W3
    • Q8TA97
    • Q9H3X9
    • Q9P2A9

    Protein attributes for NFIA Gene

    Size:
    509 amino acids
    Molecular mass:
    55944 Da
    Quaternary structure:
    • Binds DNA as a homodimer.
    SequenceCaution:
    • Sequence=BAA92677.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for NFIA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NFIA Gene

Proteomics data for NFIA Gene at MOPED

Post-translational modifications for NFIA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NFIA Gene

Domains & Families for NFIA Gene

Graphical View of Domain Structure for InterPro Entry

Q12857

UniProtKB/Swiss-Prot:

NFIA_HUMAN :
  • Contains 1 CTF/NF-I DNA-binding domain.
  • Belongs to the CTF/NF-I family.
Domain:
  • Contains 1 CTF/NF-I DNA-binding domain.
Family:
  • Belongs to the CTF/NF-I family.
genes like me logo Genes that share domains with NFIA: view

No data available for Gene Families for NFIA Gene

Function for NFIA Gene

Molecular function for NFIA Gene

GENATLAS Biochemistry:
nuclear transcription factor I A,DNA binding protein
UniProtKB/Swiss-Prot Function:
Recognizes and binds the palindromic sequence 5-TTGGCNNNNNGCCAA-3 present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication.

Gene Ontology (GO) - Molecular Function for NFIA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 17010934
GO:0008134 transcription factor binding IPI 15684392
genes like me logo Genes that share ontologies with NFIA: view
genes like me logo Genes that share phenotypes with NFIA: view

Human Phenotype Ontology for NFIA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NFIA Gene

MGI Knock Outs for NFIA:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NFIA Gene

Localization for NFIA Gene

Subcellular locations from UniProtKB/Swiss-Prot for NFIA Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NFIA Gene COMPARTMENTS Subcellular localization image for NFIA gene
Compartment Confidence
nucleus 5
extracellular 1

Gene Ontology (GO) - Cellular Components for NFIA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with NFIA: view

Pathways & Interactions for NFIA Gene

genes like me logo Genes that share pathways with NFIA: view

Gene Ontology (GO) - Biological Process for NFIA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IBA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IDA 17010934
genes like me logo Genes that share ontologies with NFIA: view

No data available for SIGNOR curated interactions for NFIA Gene

Drugs & Compounds for NFIA Gene

(1) Additional Compounds for NFIA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NFIA: view

Transcripts for NFIA Gene

Unigene Clusters for NFIA Gene

Nuclear factor I/A:
Representative Sequences:

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

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13
SP1: - -
SP2: - - -
SP3:
SP4: -
SP5:

Relevant External Links for NFIA Gene

GeneLoc Exon Structure for
NFIA
ECgene alternative splicing isoforms for
NFIA

Expression for NFIA Gene

mRNA expression in normal human tissues for NFIA Gene

Protein differential expression in normal tissues from HIPED for NFIA Gene

This gene is overexpressed in Fetal gut (14.9), Fetal testis (10.9), and Pancreas (6.0).

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



SOURCE GeneReport for Unigene cluster for NFIA Gene Hs.744898

genes like me logo Genes that share expression patterns with NFIA: view

Protein tissue co-expression partners for NFIA Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NFIA Gene

Orthologs for NFIA Gene

This gene was present in the common ancestor of animals.

Orthologs for NFIA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NFIA 35
  • 96.25 (n)
  • 100 (a)
NFIA 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NFIA 35
  • 96.22 (n)
  • 99.4 (a)
NFIA 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nfia 35
  • 94.04 (n)
  • 99.21 (a)
Nfia 16
Nfia 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NFIA 35
  • 99.88 (n)
  • 99.82 (a)
NFIA 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nfia 35
  • 93.32 (n)
  • 99.8 (a)
oppossum
(Monodelphis domestica)
Mammalia NFIA 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NFIA 36
  • 96 (a)
OneToOne
chicken
(Gallus gallus)
Aves NFIA 35
  • 91.55 (n)
  • 98.82 (a)
CNFI-A4 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 95 (a)
OneToMany
-- 36
  • 97 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nfia 35
  • 88.54 (n)
  • 98.04 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.15268 35
nfia 35
  • 78.1 (n)
  • 90.02 (a)
nfia 36
  • 89 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG2380 37
  • 44 (a)
NfI 36
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nfi-1 36
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToMany
Species with no ortholog for NFIA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 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)

Evolution for NFIA Gene

ENSEMBL:
Gene Tree for NFIA (if available)
TreeFam:
Gene Tree for NFIA (if available)

Paralogs for NFIA Gene

Paralogs for NFIA Gene

Pseudogenes.org Pseudogenes for NFIA Gene

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

Variants for NFIA Gene

Sequence variations from dbSNP and Humsavar for NFIA Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs186742 -- 61,244,299(+) AAAGG(C/T)TTTGA intron-variant
rs162878 -- 61,238,929(-) TGGTA(C/T)AAAAA intron-variant
rs167978 -- 61,256,503(-) TTGAA(C/T)ACGGC intron-variant
rs167987 -- 61,237,467(-) GCACA(A/G)TATTT intron-variant
rs168022 -- 61,163,781(+) TTTTT(A/G)TATGC intron-variant

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

Variant ID Type Subtype PubMed ID
esv25296 CNV Loss 19812545
nsv1065 CNV Insertion 18451855
esv2678784 CNV Deletion 23128226
esv2748941 CNV Deletion 23290073
nsv1077 CNV Insertion 18451855
nsv512741 CNV Insertion 21212237
esv275289 CNV Gain+Loss 21479260

Variation tolerance for NFIA Gene

Residual Variation Intolerance Score: 17.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.47; 10.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NFIA Gene

HapMap Linkage Disequilibrium report
NFIA
Human Gene Mutation Database (HGMD)
NFIA

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

Disorders for NFIA Gene

MalaCards: The human disease database

(2) MalaCards diseases for NFIA Gene - From: Orphanet, DISEASES, and Novoseek

Disorder Aliases PubMed IDs
chromosome 1p32-p31 deletion syndrome
  • 1p31p32 microdeletion syndrome
leukemia, acute promyelocytic, somatic
  • leukemia, acute promyelocytic
- elite association - COSMIC cancer census association via MalaCards
Search NFIA in MalaCards View complete list of genes associated with diseases

Relevant External Links for NFIA

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

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

Publications for NFIA Gene

  1. Chromosomal localization of the four genes (NFIA, B, C, and X) for the human transcription factor nuclear factor I by FISH. (PMID: 7590749) Qian F. … Sippel A.E. (Genomics 1995) 2 3 4 23 67
  2. Nuclear factor I regulates brain fatty acid-binding protein and glial fibrillary acidic protein gene expression in malignant glioma cell lines. (PMID: 19540848) Brun M. … Godbout R. (J. Mol. Biol. 2009) 3 23
  3. NFI-A directs the fate of hematopoietic progenitors to the erythroid or granulocytic lineage and controls beta-globin and G-CSF receptor expression. (PMID: 19542302) Starnes L.M. … Peschle C. (Blood 2009) 3 23
  4. Transcriptional regulation of the human TR2 orphan receptor gene by nuclear factor 1-A. (PMID: 17010934) Lin Y.L. … Lee H.J. (Biochem. Biophys. Res. Commun. 2006) 3 23
  5. A minicircuitry comprised of microRNA-223 and transcription factors NFI-A and C/EBPalpha regulates human granulopoiesis. (PMID: 16325577) Fazi F. … Bozzoni I. (Cell 2005) 3 23

Products for NFIA Gene

Sources for NFIA Gene

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