POU4F3

Protein-coding gene in the species Homo sapiens
POU4F3
Identifiers
AliasesPOU4F3, BRN3C, DFNA15, POU class 4 homeobox 3, DFNA42, DFNA52
External IDsOMIM: 602460 MGI: 102523 HomoloGene: 2023 GeneCards: POU4F3
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for POU4F3
Genomic location for POU4F3
Band5q32Start146,338,839 bp[1]
End146,341,728 bp[1]
Gene location (Mouse)
Chromosome 18 (mouse)
Chr.Chromosome 18 (mouse)[2]
Chromosome 18 (mouse)
Genomic location for POU4F3
Genomic location for POU4F3
Band18 B3|18 22.58 cMStart42,527,604 bp[2]
End42,530,314 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • smooth muscle tissue

  • islet of Langerhans
Top expressed in
  • organ of Corti

  • otolith organ

  • utricle

  • saccule

  • lip

  • mesencephalon

  • lens

  • petrous part of the temporal bone

  • cochlea

  • rhombencephalon
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • DNA binding
  • sequence-specific DNA binding
  • DNA-binding transcription factor activity
  • DNA-binding transcription activator activity, RNA polymerase II-specific
  • RNA polymerase II cis-regulatory region sequence-specific DNA binding
  • DNA-binding transcription factor activity, RNA polymerase II-specific
Cellular component
  • nucleoplasm
  • nucleus
  • cytoplasm
Biological process
  • regulation of transcription, DNA-templated
  • sensory perception of sound
  • inner ear development
  • visual perception
  • transcription by RNA polymerase II
  • transcription, DNA-templated
  • cell differentiation
  • positive regulation of transcription by RNA polymerase II
  • regulation of transcription by RNA polymerase II
  • vestibulocochlear nerve development
  • retinal ganglion cell axon guidance
  • inner ear morphogenesis
  • inner ear auditory receptor cell differentiation
  • axon extension
  • neuromuscular process controlling balance
  • neuron apoptotic process
  • inner ear receptor cell differentiation
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

5459

18998

Ensembl

ENSG00000091010

ENSMUSG00000024497

UniProt

Q15319

Q63955

RefSeq (mRNA)

NM_002700

NM_138945

RefSeq (protein)

NP_002691

NP_620395

Location (UCSC)Chr 5: 146.34 – 146.34 MbChr 18: 42.53 – 42.53 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

POU domain, class 4, transcription factor 3 is a protein that in humans is encoded by the POU4F3 gene.[5][6] It's a member of BRN-3 group, also known as POU family class 4.

Nomenclature

DFNA15 refers to a type of nonsyndromic deafness, with autosomal dominant inheritance.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000091010 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024497 – 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. ^ Vahava O, Morell R, Lynch ED, Weiss S, Kagan ME, Ahituv N, Morrow JE, Lee MK, Skvorak AB, Morton CC, Blumenfeld A, Frydman M, Friedman TB, King MC, Avraham KB (Apr 1998). "Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans". Science. 279 (5358): 1950–4. Bibcode:1998Sci...279.1950V. doi:10.1126/science.279.5358.1950. PMID 9506947. S2CID 25291858.
  6. ^ "Entrez Gene: POU4F3 POU domain, class 4, transcription factor 3".

Further reading

In Vivo Interplay between p27Kip1, GATA3, ATOH1, and POU4F3 Converts Non-sensory Cells to Hair Cells in Adult Mice
  • Nolan LS, Jagutpal SS, Cadge BA, et al. (2017). "Identification and functional analysis of common sequence variants in the DFNA15 gene, Brn-3c". Gene. 400 (1–2): 89–97. doi:10.1016/j.gene.2007.05.023. PMID 17611044.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Clough RL, Sud R, Davis-Silberman N, et al. (2004). "Brn-3c (POU4F3) regulates BDNF and NT-3 promoter activity". Biochem. Biophys. Res. Commun. 324 (1): 372–81. doi:10.1016/j.bbrc.2004.09.074. PMID 15465029.
  • Weiss S, Gottfried I, Mayrose I, et al. (2003). "The DFNA15 Deafness Mutation Affects POU4F3 Protein Stability, Localization, and Transcriptional Activity". Mol. Cell. Biol. 23 (22): 7957–64. doi:10.1128/MCB.23.22.7957-7964.2003. PMC 262385. PMID 14585957.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Leonard JH, Cook AL, Van Gele M, et al. (2002). "Proneural and proneuroendocrine transcription factor expression in cutaneous mechanoreceptor (Merkel) cells and Merkel cell carcinoma". Int. J. Cancer. 101 (2): 103–10. doi:10.1002/ijc.10554. PMID 12209986. S2CID 20592545.
  • Erkman L, McEvilly RJ, Luo L, et al. (1996). "Role of transcription factors Brn-3.1 and Brn-3.2 in auditory and visual system development". Nature. 381 (6583): 603–6. Bibcode:1996Natur.381..603E. doi:10.1038/381603a0. PMID 8637595. S2CID 37343529.
  • Xiang M, Zhou L, Macke JP, et al. (1995). "The Brn-3 family of POU-domain factors: primary structure, binding specificity, and expression in subsets of retinal ganglion cells and somatosensory neurons". J. Neurosci. 15 (7 Pt 1): 4762–85. doi:10.1523/JNEUROSCI.15-07-04762.1995. PMC 6577904. PMID 7623109.

External links

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

  • v
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  • e
(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


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