Gene Gene information from NCBI Gene database.
Entrez ID 4774
Gene name Nuclear factor I A
Gene symbol NFIA
Synonyms (NCBI Gene)
BRMUTDC1DELp32p31CTFDEL1P32P31NF-I/ANF1-ANFI-ANFI-L
Chromosome 1
Chromosome location 1p31.3
Summary 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.
19
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.
1574
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 MicroarrayqRT-PCR 17260024
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000902 Process Cell morphogenesis IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600727 7784 ENSG00000162599
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
87
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Brain malformations with or without urinary tract defects Likely pathogenic; Pathogenic rs1422656895, rs2100520890, rs2100414350, rs2525109189, rs2524200871, rs1255356768, rs2524179794, rs2525031517, rs1060505054, rs1064794841, rs1553149185, rs1553149182 RCV003148991
RCV003992556
RCV004785555
RCV003761456
RCV002810031
RCV003314502
RCV003493273
RCV003990763
RCV004564160
RCV004787780
RCV003302898
RCV005055367
Chromosome 1p32-p31 deletion syndrome Likely pathogenic; Pathogenic rs1646257371, rs1646254633, rs2100414085, rs2100414066, rs2100520890, rs2100414767, rs2100414172, rs1064794841, rs1553149202, rs769522583, rs1570123287, rs1665711818, rs1646253231 RCV002226538
RCV001332882
RCV001706867
RCV001754570
RCV001785373
RCV002052159
RCV002251111
RCV000762957
RCV000501490
RCV000754786
RCV000984875
RCV001198810
RCV001254039
Cleft palate Likely pathogenic rs1057518992 RCV000415057
Macrocephaly Likely pathogenic rs1057518992 RCV000415057
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs35331189 RCV005918119
Cervical cancer Benign rs35331189 RCV005918121
Familial pancreatic carcinoma Benign rs200406628 RCV005916927
Gastric cancer Likely benign rs199806380 RCV005907637
Associations from Text MiningDisease associations identified through Pubtator
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