NFIA

Protein-coding gene in the species Homo sapiens
NFIA
Identifiers
AliasesNFIA, CTF, NF-I/A, NF1-A, NFI-A, NFI-L, nuclear factor I A, BRMUTD
External IDsOMIM: 600727 MGI: 108056 HomoloGene: 4086 GeneCards: NFIA
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for NFIA
Genomic location for NFIA
Band1p31.3Start60,865,259 bp[1]
End61,462,788 bp[1]
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)[2]
Chromosome 4 (mouse)
Genomic location for NFIA
Genomic location for NFIA
Band4 C5- C6|4 45.52 cMStart97,660,971 bp[2]
End98,007,111 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • internal globus pallidus

  • urethra

  • saphenous vein

  • vena cava

  • cardia

  • nipple

  • parietal pleura

  • endothelial cell

  • synovial joint

  • lactiferous duct
Top expressed in
  • seminal vesicula

  • external carotid artery

  • internal carotid artery

  • cerebellar vermis

  • atrioventricular valve

  • facial motor nucleus

  • aortic valve

  • sexually immature organism

  • conjunctival fornix

  • median eminence
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • DNA-binding transcription factor activity
  • RNA polymerase II cis-regulatory region sequence-specific DNA binding
  • DNA binding
  • DNA-binding transcription activator activity, RNA polymerase II-specific
  • transcription factor binding
  • chromatin binding
  • protein binding
  • DNA-binding transcription factor activity, RNA polymerase II-specific
Cellular component
  • cell junction
  • intracellular anatomical structure
  • nucleus
  • nucleoplasm
Biological process
  • viral genome replication
  • DNA replication
  • regulation of transcription, DNA-templated
  • negative regulation of transcription by RNA polymerase II
  • transcription, DNA-templated
  • synapse maturation
  • transcription by RNA polymerase II
  • positive regulation of transcription by RNA polymerase II
  • ureter development
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

4774

18027

Ensembl

ENSG00000162599

ENSMUSG00000028565

UniProt

Q12857

Q02780

RefSeq (mRNA)

NM_001134673
NM_001145511
NM_001145512
NM_005595

NM_001122952
NM_001122953
NM_010905

RefSeq (protein)

NP_001128145
NP_001138983
NP_001138984
NP_005586

NP_001116424
NP_001116425
NP_035035

Location (UCSC)Chr 1: 60.87 – 61.46 MbChr 4: 97.66 – 98.01 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Nuclear factor 1 A-type is a protein that in humans is encoded by the NFIA gene.[5][6]

Function

Nuclear factor I (NFI) proteins constitute a family of dimeric DNA-binding proteins with similar, and possibly identical, DNA-binding specificity. They function as cellular transcription factors and as replication factors for adenovirus DNA replication. Diversity in this protein family is generated by multiple genes, differential splicing, and heterodimerization.[supplied by OMIM][6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000162599 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028565 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Qian F, Kruse U, Lichter P, Sippel AE (July 1995). "Chromosomal localization of the four genes (NFIA, B, C, and X) for the human transcription factor nuclear factor I by FISH". Genomics. 28 (1): 66–73. doi:10.1006/geno.1995.1107. PMID 7590749.
  6. ^ a b "Entrez Gene: NFIA nuclear factor I/A".

Further reading

  • Leahy P, Crawford DR, Grossman G, Gronostajski RM, Hanson RW (March 1999). "CREB binding protein coordinates the function of multiple transcription factors including nuclear factor I to regulate phosphoenolpyruvate carboxykinase (GTP) gene transcription". The Journal of Biological Chemistry. 274 (13): 8813–22. doi:10.1074/jbc.274.13.8813. PMID 10085123.
  • das Neves L, Duchala CS, Tolentino-Silva F, Haxhiu MA, Colmenares C, Macklin WB, Campbell CE, Butz KG, Gronostajski RM, Godinho F (October 1999). "Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum". Proceedings of the National Academy of Sciences of the United States of America. 96 (21): 11946–51. Bibcode:1999PNAS...9611946D. doi:10.1073/pnas.96.21.11946. PMC 18392. PMID 10518556.
  • Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (February 2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 7 (1): 65–73. doi:10.1093/dnares/7.1.65. PMID 10718198.
  • Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP (August 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
  • Xu H, Uno JK, Inouye M, Collins JF, Ghishan FK (February 2005). "NF1 transcriptional factor(s) is required for basal promoter activation of the human intestinal NaPi-IIb cotransporter gene". American Journal of Physiology. Gastrointestinal and Liver Physiology. 288 (2): G175-81. doi:10.1152/ajpgi.00396.2004. PMID 15458926. S2CID 14194207.
  • Wang W, Stock RE, Gronostajski RM, Wong YW, Schachner M, Kilpatrick DL (December 2004). "A role for nuclear factor I in the intrinsic control of cerebellar granule neuron gene expression". The Journal of Biological Chemistry. 279 (51): 53491–7. doi:10.1074/jbc.M410370200. PMID 15466411.
  • Champ PC, Maurice S, Vargason JM, Camp T, Ho PS (2005). "Distributions of Z-DNA and nuclear factor I in human chromosome 22: a model for coupled transcriptional regulation". Nucleic Acids Research. 32 (22): 6501–10. doi:10.1093/nar/gkh988. PMC 545456. PMID 15598822.
  • Berry FB, O'Neill MA, Coca-Prados M, Walter MA (February 2005). "FOXC1 transcriptional regulatory activity is impaired by PBX1 in a filamin A-mediated manner". Molecular and Cellular Biology. 25 (4): 1415–24. doi:10.1128/MCB.25.4.1415-1424.2005. PMC 548007. PMID 15684392.
  • Fazi F, Rosa A, Fatica A, Gelmetti V, De Marchis ML, Nervi C, Bozzoni I (December 2005). "A minicircuitry comprised of microRNA-223 and transcription factors NFI-A and C/EBPalpha regulates human granulopoiesis". Cell. 123 (5): 819–31. doi:10.1016/j.cell.2005.09.023. PMID 16325577. S2CID 6003724.
  • Lin YL, Wang YH, Lee HJ (November 2006). "Transcriptional regulation of the human TR2 orphan receptor gene by nuclear factor 1-A". Biochemical and Biophysical Research Communications. 350 (2): 430–6. doi:10.1016/j.bbrc.2006.09.061. PMID 17010934.
  • Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (November 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
  • Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q, Turbe-Doan A, Li QG, Campbell CG, Shanske AL, Sherr EH, Ahmad A, Peters R, Rilliet B, Parvex P, Bassuk AG, Harris DJ, Ferguson H, Kelly C, Walsh CA, Gronostajski RM, Devriendt K, Higgins A, Ligon AH, Quade BJ, Morton CC, Gusella JF, Maas RL (May 2007). "NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects". PLOS Genetics. 3 (5): e80. doi:10.1371/journal.pgen.0030080. PMC 1877820. PMID 17530927.

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies
Stub icon

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