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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
48
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (7 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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
View all (8 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cleft palate Likely pathogenic rs1057518992 RCV000415057
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrocephaly Likely pathogenic rs1057518992 RCV000415057
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
1P31P32 MICRODELETION SYNDROME Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
APPENDICITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
1p31p32 microdeletion syndrome 1p31p32 microdeletion syndrome ORPHANET_DG 24462883
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
1p31p32 microdeletion syndrome 1p31p32 microdeletion syndrome Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 17353270
★☆☆☆☆
Found in Text Mining only
Agenesis of Corpus Callosum Corpus callosum agenesis Pubtator 22030051, 32926563 Associate
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 24560411
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 33640202 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer Disease Alzheimer disease Pubtator 37533101 Inhibit
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyloidosis Amyloidosis BEFREE 27430330, 31771065
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder GWASCAT_DG 29942085
★☆☆☆☆
Found in Text Mining only