Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4774
Gene name Gene Name - the full gene name approved by the HGNC.
Nuclear factor I A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NFIA
Synonyms (NCBI Gene) Gene synonyms aliases
BRMUTD, C1DELp32p31, CTF, DEL1P32P31, NF-I/A, NF1-A, NFI-A, NFI-L
Disease Acronyms (UniProt) Disease acronyms from UniProt database
BRMUTD
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p31.3
Summary Summary of gene provided in NCBI Entrez 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]
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs769522583 A>G Likely-pathogenic Genic upstream transcript variant, missense variant, coding sequence variant
rs886039429 C>T Pathogenic Missense variant, coding sequence variant, genic upstream transcript variant
rs1057518992 G>- Likely-pathogenic Coding sequence variant, frameshift variant
rs1060505054 C>- Pathogenic Coding sequence variant, frameshift variant
rs1064794841 C>T Likely-pathogenic, pathogenic Stop gained, coding sequence variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004522 hsa-miR-223-3p Luciferase reporter assay 17996649
MIRT004522 hsa-miR-223-3p Review 20029422
MIRT003928 hsa-miR-424-5p Review 20029422
MIRT004811 hsa-miR-107 Luciferase reporter assay 17260024
MIRT004522 hsa-miR-223-3p Microarray, qRT-PCR 17260024
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 17010934
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600727 7784 ENSG00000162599
Protein
UniProt ID Q12857
Protein name Nuclear factor 1 A-type (NF1-A) (Nuclear factor 1/A) (CCAAT-box-binding transcription factor) (CTF) (Nuclear factor I/A) (NF-I/A) (NFI-A) (TGGCA-binding protein)
Protein 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 replicatio
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10524 NfI_DNAbd_pre-N 7 46 Nuclear factor I protein pre-N-terminus Family
PF03165 MH1 68 172 MH1 domain Domain
PF00859 CTF_NFI 214 508 CTF/NF-I family transcription modulation region Family
Sequence
Sequence length 509
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Brain malformations with or without urinary tract defects BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS rs1060505054, rs1064794841, rs1553149185, rs1553149182 17530927
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Macrocephaly Macrocephaly rs786204854, rs764333096, rs1557739557
Unknown
Disease term Disease name Evidence References Source
Celiac disease Celiac Disease, Celiac disease 20190752, 25920553 ClinVar, GWAS
Renal hypoplasia Congenital hypoplasia of kidney ClinVar
Erectile Dysfunction Erectile Dysfunction GWAS
Coronary artery disease Coronary artery disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Agenesis of Corpus Callosum Associate 22030051, 32926563
Alzheimer Disease Associate 33640202
Alzheimer Disease Inhibit 37533101
Anxiety Associate 36814110
Arthritis Rheumatoid Associate 26895230
Astrocytoma Associate 20150379, 27810072, 37155843
Atherosclerosis Associate 30721172
Atrophy Associate 33640202
Autism Spectrum Disorder Associate 33431980
Autistic Disorder Associate 24204716