NFIA (nuclear factor I A)

2014-06-01  

Identity

HGNC
NFIA
LOCATION
1p31.3
LOCUSID
4774
ALIAS
BRMUTD,CTF,NF-I/A,NF1-A,NFI-A,NFI-L
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4774
MIM: 600727
HGNC: 7784
Ensembl: ENSG00000162599

Variants:

dbSNP: 4774
ClinVar: 4774
TCGA: ENSG00000162599
COSMIC: NFIA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162599ENST00000357977S4R3K5
ENSG00000162599ENST00000371184B1AKN6
ENSG00000162599ENST00000371185B1AKN5
ENSG00000162599ENST00000371187Q12857
ENSG00000162599ENST00000371189Q12857
ENSG00000162599ENST00000371191B1AKN8
ENSG00000162599ENST00000403491Q12857
ENSG00000162599ENST00000407417Q12857
ENSG00000162599ENST00000476646S4R3K4
ENSG00000162599ENST00000482020S4R3W2
ENSG00000162599ENST00000485903B1AKN7
ENSG00000162599ENST00000493627S4R3W6
ENSG00000162599ENST00000496712S4R308
ENSG00000162599ENST00000655770A0A590UJA3
ENSG00000162599ENST00000657234A0A590UK38
ENSG00000162599ENST00000662015A0A590UJ82
ENSG00000162599ENST00000663597A0A590UJU2
ENSG00000162599ENST00000664149A0A590UK09
ENSG00000162599ENST00000664495A0A590UJ67
ENSG00000162599ENST00000670151A0A590UK73

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase I, RNA Polymerase III, and Mitochondrial TranscriptionREACTOMER-HSA-504046
RNA Polymerase III TranscriptionREACTOMER-HSA-74158
RNA Polymerase III Abortive And Retractive InitiationREACTOMER-HSA-749476
RNA Polymerase III Transcription TerminationREACTOMER-HSA-73980

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382433032024CNS erythroblastic sarcoma: a potential emerging pediatric tumor type characterized by NFIA::RUNX1T1/3 fusions.0
382433032024CNS erythroblastic sarcoma: a potential emerging pediatric tumor type characterized by NFIA::RUNX1T1/3 fusions.0
358186362023Spatial control of astrogenesis progression by cortical arealization genes.1
373154002023SOX9/NFIA promotes human ovarian cancer metastasis through the Wnt/β-catenin signaling pathway.2
378807262023Cell-specific NFIA upregulation promotes epileptogenesis by TRPV4-mediated astrocyte reactivity.1
358186362023Spatial control of astrogenesis progression by cortical arealization genes.1
373154002023SOX9/NFIA promotes human ovarian cancer metastasis through the Wnt/β-catenin signaling pathway.2
378807262023Cell-specific NFIA upregulation promotes epileptogenesis by TRPV4-mediated astrocyte reactivity.1
349697592022Nuclear Factor IA Is Down-regulated in Muscle-invasive and High-grade Bladder Cancers.3
356221092022HIF-1α and NFIA-AS2 Polymorphisms as Potential Determinants of Total Hemoglobin Mass in Endurance Athletes.5
349697592022Nuclear Factor IA Is Down-regulated in Muscle-invasive and High-grade Bladder Cancers.3
356221092022HIF-1α and NFIA-AS2 Polymorphisms as Potential Determinants of Total Hemoglobin Mass in Endurance Athletes.5
336402022021Genome-wide association study identifies susceptibility loci of brain atrophy to NFIA and ST18 in Alzheimer's disease.7
339321362021The miR-223/nuclear factor I-A axis regulates inflammation and cellular functions in intestinal tissues with necrotizing enterocolitis.5
339736972021Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.7

Citation

Dessen P

NFIA (nuclear factor I A)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/53987/nfia-(nuclear-factor-i-a)