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NFIA (nuclear factor I A)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4774
Gene nameGene Name - the full gene name approved by the HGNC.
Nuclear factor I A
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
NFIA
SynonymsGene synonyms aliases
BRMUTD, C1DELp32p31, CTF, DEL1P32P31, NF-I/A, NF1-A, NFI-A, NFI-L
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p31.3
SummarySummary 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]
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Causal
Disease name Disease term 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, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Macrocephaly Macrocephaly rs786204854, rs764333096, rs1557739557
Unknown
Disease name Disease term dbSNP ID References
1p31p32 microdeletion syndrome 1p31p32 microdeletion syndrome 24462883
Anxiety disorder Anxiety 29942085
Arnold-chiari malformation Arnold-Chiari Malformation, Type I
Bipolar disorder Bipolar Disorder 22925353

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