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Nfia Gene Detail
Summary
  • Symbol
    Nfia
  • Name
    nuclear factor I/A
  • Synonyms
    1110047K16Rik, 9430022M17Rik, NF1-A, NF1A
  • Feature Type
    protein coding gene
  • IDs
    MGI:108056
    NCBI Gene: 18027
  • Alliance
    gene page
  • Transcription Start Sites
    28 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:97660971-98007111 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 45.52 cM, cytoband C4-C6
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    7376 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_108056
 protein coding gene Chr4:97469534-98007113 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028470
 protein coding gene Chr4:97899322-98262542 (+)
A/J MGP_AJ_G0028433
 protein coding gene Chr4:94484723-94838146 (+)
AKR/J MGP_AKRJ_G0028380
 protein coding gene Chr4:96797670-97153774 (+)
BALB/cJ MGP_BALBcJ_G0028451
 protein coding gene Chr4:94750658-95100346 (+)
C3H/HeJ MGP_C3HHeJ_G0028164
 protein coding gene Chr4:97590258-97944093 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028890
 protein coding gene Chr4:101668851-102037009 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026182
 protein coding gene Chr4:89907595-90251712 (+)
CAST/EiJ MGP_CASTEiJ_G0027604
 protein coding gene Chr4:95365139-95732876 (+)
CBA/J MGP_CBAJ_G0028133
 protein coding gene Chr4:104719114-105093120 (+)
DBA/2J MGP_DBA2J_G0028283
 protein coding gene Chr4:94267945-94614593 (+)
FVB/NJ MGP_FVBNJ_G0028250
 protein coding gene Chr4:93115690-93462966 (+)
LP/J MGP_LPJ_G0028383
 protein coding gene Chr4:98217685-98578297 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028278
 protein coding gene Chr4:110519637-110887156 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028928
 protein coding gene Chr4:97047637-97401696 (+)
PWK/PhJ MGP_PWKPhJ_G0027329
 protein coding gene Chr4:92399953-92755130 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027150
 protein coding gene Chr4:94488441-94851198 (+)
WSB/EiJ MGP_WSBEiJ_G0027682
 protein coding gene Chr4:97149376-97508944 (+)



Homology
more
  • Human Ortholog
    NFIA, nuclear factor I A
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NFIA, nuclear factor I A
  • Synonyms
    BRMUTD, C1DELp32p31, CTF, DEL1P32P31, NF1-A, NF-I/A, NFI-A, NFI-L
  • Links
    NCBI Gene ID: 4774
    neXtProt AC: NX_Q12857
    UniProt: Q12857

  • Chr Location
    1p31.3; chr1:60865259-61462788 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human NFIA associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

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

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    41
  • GO References
    15
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1185
  • Tissues
    344
  • cDNA Data
    38
  • Literature Summary
    84
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028565 Ensembl Gene Model | MGI Sequence Detail 346141 C57BL/6J ±  kb
    transcript ENSMUST00000075448 Ensembl | MGI Sequence Detail 9526 Not Applicable  
    polypeptide ENSMUSP00000074899 Ensembl | MGI Sequence Detail 509 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      11 Sequences
    • Protein Ontology
      PR:000011173 nuclear factor 1 A-type
      (term hierarchy)
    • 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
    • GlyGen
      Q02780 2 sites, 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 47
      cDNA 41
      Primer pair 3
      Other 3

      Microarray probesets 10
    Other
    Accession IDs
    less
    MGD-MRK-37092, MGI:1916088, MGI:2444170
    References
    more
    • Summaries
      All 150
      Developmental Gene Expression 84
      Gene Ontology 15
      Phenotypes 46
    • 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:353444 Bessa P, et al., Semaphorin heterodimerization in cis regulates membrane targeting and neocortical wiring. Nat Commun. 2024 Aug 16;15(1):7059
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory