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Nfia Gene Detail
Summary
  • Symbol
    Nfia
  • Name
    nuclear factor I/A
  • Synonyms
    1110047K16Rik, 9430022M17Rik, NF1A, NF1-A
  • Feature Type
    protein coding gene
  • IDs
    MGI:108056
    NCBI Gene: 18027
  • Gene Overview
    MyGene.info: NFIA
Location & Maps
more
  • Sequence Map
    Chr4:97772734-98118871 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      346138 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    NFIA, nuclear factor I A
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NFIA, nuclear factor I A
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CTF, NF1-A, NF-I/A, NFI-A, NFI-L
  • Links
    NCBI Gene ID: 4774
    neXtProt AC: NX_Q12857

  • Chr Location
    1p31.3-p31.2; chr1:61077257-61462788 (+)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    31 phenotypes from 1 allele in 5 genetic backgrounds
    8 images
    19 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    7
  • Chemically induced (other)
    2
  • Radiation induced
    1
  • Targeted
    4
  • Genomic Mutations
    4 involving Nfia
  • Incidental Mutations
Homozygous null mice display perinatal lethality, hydrocephalus, agenesis of the corpus callosum and hippocampal commissure. Fertility is surviving homozygotes is compromised. A decrease in the number of heterozygous animals is associated with a maternal effect.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000007951 VEGA Gene Model | MGI Sequence Detail 346138 C57BL/6J ±  kb
transcript OTTMUST00000018038 VEGA | MGI Sequence Detail 9526 Not Applicable  
polypeptide OTTMUSP00000008283 VEGA | MGI Sequence Detail 509 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    3697 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    11 Sequences
  • Protein Ontology
    PR:000011173 nuclear factor 1 A-type
  • InterPro Domains
    IPR000647 CTF transcription factor/nuclear factor 1
    IPR019739 CTF transcription factor/nuclear factor 1, conserved site
    IPR020604 CTF transcription factor/nuclear factor 1, DNA-binding domain
    IPR019548 CTF transcription factor/nuclear factor 1, N-terminal
    IPR003619 MAD homology 1, Dwarfin-type
Molecular
Reagents
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  • All nucleic 41
    cDNA 38
    Primer pair 2
    Other 1

    Microarray probesets 10
Other
Accession IDs
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MGD-MRK-37092, MGI:1916088, MGI:2444170
References
more
  • Summaries
    All 83
    Developmental Gene Expression 46
    Gene Ontology 10
    Phenotypes 19
  • Earliest
    J:10811 Inoue T, et al., Isolation of complementary DNAs encoding a cerebellum-enriched nuclear factor I family that activates transcription from the mouse myelin basic protein promoter. J Biol Chem. 1990 Nov 5;265(31):19065-70
  • Latest
    J:227703 Garside VC, et al., SOX9 modulates the expression of key transcription factors required for heart valve development. Development. 2015 Dec 15;142(24):4340-50

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory