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Protein

POU domain, class 4, transcription factor 3

Gene

POU4F3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Acts as a transcriptional activator (PubMed:18228599). Acts by binding to sequences related to the consensus octamer motif 5'-ATGCAAAT-3' in the regulatory regions of its target genes (PubMed:18228599). Involved in the auditory system development, required for terminal differentiation of hair cells in the inner ear (By similarity).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi274 – 333HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

  • cell differentiation Source: UniProtKB-KW
  • inner ear development Source: InterPro
  • positive regulation of transcription by RNA polymerase II Source: NTNU_SB
  • sensory perception of sound Source: ProtInc
  • visual perception Source: ProtInc

Keywordsi

Molecular functionActivator, DNA-binding
Biological processDifferentiation, Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
POU domain, class 4, transcription factor 3
Alternative name(s):
Brain-specific homeobox/POU domain protein 3C
Short name:
Brain-3C
Short name:
Brn-3C
Gene namesi
Name:POU4F3
Synonyms:BRN3C
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000091010.4
HGNCiHGNC:9220 POU4F3
MIMi602460 gene
neXtProtiNX_Q15319

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal dominant, 15 (DFNA15)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic hearing loss with variable phenotype in terms of age at onset, levels of progression, and shape of audiograms.
See also OMIM:602459
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07985964D → V in DFNA15. 1 Publication1
Natural variantiVAR_079860143 – 338Missing in DFNA15. 1 PublicationAdd BLAST196
Natural variantiVAR_079861164P → R in DFNA15; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs367737951Ensembl.1
Natural variantiVAR_079862192 – 338Missing in DFNA15. 1 PublicationAdd BLAST147
Natural variantiVAR_079863194F → Y in DFNA15. 1 Publication1
Natural variantiVAR_079864222S → L in DFNA15. 1 Publication1
Natural variantiVAR_045682223L → P in DFNA15; decreases subcellular localization in the nucleus; decreases DNA-binding activity; decreases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs121909057EnsemblClinVar.1
Natural variantiVAR_079865232E → K in DFNA15; unknown pathological significance. 1 Publication1
Natural variantiVAR_079866240N → Y in DFNA15. 1 Publication1
Natural variantiVAR_079867281I → V in DFNA15. 1 Publication1
Natural variantiVAR_045683289L → F in DFNA15; decreases subcellular localization in the nucleus; decreases DNA-binding activity; decreases transcriptional activity. 2 PublicationsCorresponds to variant dbSNP:rs121909056EnsemblClinVar.1
Natural variantiVAR_079868299P → L in DFNA15. 1 Publication1
Natural variantiVAR_079869326 – 338Missing in DFNA15. 1 PublicationAdd BLAST13
Natural variantiVAR_079870326R → K in DFNA15. 1 PublicationCorresponds to variant dbSNP:rs398123070EnsemblClinVar.1
Natural variantiVAR_079871328K → E in DFNA15; decreases subcellular localization in the nucleus. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNETi5459
GeneReviewsiPOU4F3
MalaCardsiPOU4F3
MIMi602459 phenotype
OpenTargetsiENSG00000091010
Orphaneti90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
PharmGKBiPA33544

Polymorphism and mutation databases

BioMutaiPOU4F3
DMDMi2495302

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001007421 – 338POU domain, class 4, transcription factor 3Add BLAST338

Proteomic databases

PaxDbiQ15319
PeptideAtlasiQ15319
PRIDEiQ15319
ProteomicsDBi60527

PTM databases

iPTMnetiQ15319
PhosphoSitePlusiQ15319

Expressioni

Tissue specificityi

Brain. Seems to be specific to the retina.2 Publications

Gene expression databases

BgeeiENSG00000091010
CleanExiHS_POU4F3
GenevisibleiQ15319 HS

Organism-specific databases

HPAiHPA038215

Interactioni

Subunit structurei

Interacts with ISL1.By similarity

Protein-protein interaction databases

BioGridi111455, 2 interactors
IntActiQ15319, 5 interactors
STRINGi9606.ENSP00000230732

Structurei

3D structure databases

ProteinModelPortaliQ15319
SMRiQ15319
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini179 – 256POU-specificPROSITE-ProRule annotationAdd BLAST78

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi56 – 65POU-IV box10

Sequence similaritiesi

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG1168 Eukaryota
ENOG410XPNX LUCA
GeneTreeiENSGT00760000118935
HOGENOMiHOG000116305
HOVERGENiHBG031829
InParanoidiQ15319
KOiK09366
OMAiDVTYHTM
OrthoDBiEOG091G0WBK
PhylomeDBiQ15319
TreeFamiTF316413

Family and domain databases

CDDicd00086 homeodomain, 1 hit
cd00093 HTH_XRE, 1 hit
InterProiView protein in InterPro
IPR001387 Cro/C1-type_HTH
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR010982 Lambda_DNA-bd_dom_sf
IPR013847 POU
IPR032961 POU4F3
IPR000327 POU_dom
PANTHERiPTHR11636:SF43 PTHR11636:SF43, 1 hit
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PF00157 Pou, 1 hit
PRINTSiPR00028 POUDOMAIN
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SM00352 POU, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
SSF47413 SSF47413, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
PS00035 POU_1, 1 hit
PS00465 POU_2, 1 hit
PS51179 POU_3, 1 hit

Sequencei

Sequence statusi: Complete.

Q15319-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MMAMNSKQPF GMHPVLQEPK FSSLHSGSEA MRRVCLPAPQ LQGNIFGSFD
60 70 80 90 100
ESLLARAEAL AAVDIVSHGK NHPFKPDATY HTMSSVPCTS TSSTVPISHP
110 120 130 140 150
AALTSHPHHA VHQGLEGDLL EHISPTLSVS GLGAPEHSVM PAQIHPHHLG
160 170 180 190 200
AMGHLHQAMG MSHPHTVAPH SAMPACLSDV ESDPRELEAF AERFKQRRIK
210 220 230 240 250
LGVTQADVGA ALANLKIPGV GSLSQSTICR FESLTLSHNN MIALKPVLQA
260 270 280 290 300
WLEEAEAAYR EKNSKPELFN GSERKRKRTS IAAPEKRSLE AYFAIQPRPS
310 320 330
SEKIAAIAEK LDLKKNVVRV WFCNQRQKQK RMKYSAVH
Length:338
Mass (Da):37,052
Last modified:November 1, 1996 - v1
Checksum:iE2D2EEB25B299A5C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti67S → F in AAC06203 (PubMed:9506947).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07985964D → V in DFNA15. 1 Publication1
Natural variantiVAR_079860143 – 338Missing in DFNA15. 1 PublicationAdd BLAST196
Natural variantiVAR_079861164P → R in DFNA15; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs367737951Ensembl.1
Natural variantiVAR_079862192 – 338Missing in DFNA15. 1 PublicationAdd BLAST147
Natural variantiVAR_079863194F → Y in DFNA15. 1 Publication1
Natural variantiVAR_079864222S → L in DFNA15. 1 Publication1
Natural variantiVAR_045682223L → P in DFNA15; decreases subcellular localization in the nucleus; decreases DNA-binding activity; decreases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs121909057EnsemblClinVar.1
Natural variantiVAR_079865232E → K in DFNA15; unknown pathological significance. 1 Publication1
Natural variantiVAR_079866240N → Y in DFNA15. 1 Publication1
Natural variantiVAR_079867281I → V in DFNA15. 1 Publication1
Natural variantiVAR_045683289L → F in DFNA15; decreases subcellular localization in the nucleus; decreases DNA-binding activity; decreases transcriptional activity. 2 PublicationsCorresponds to variant dbSNP:rs121909056EnsemblClinVar.1
Natural variantiVAR_079868299P → L in DFNA15. 1 Publication1
Natural variantiVAR_079869326 – 338Missing in DFNA15. 1 PublicationAdd BLAST13
Natural variantiVAR_079870326R → K in DFNA15. 1 PublicationCorresponds to variant dbSNP:rs398123070EnsemblClinVar.1
Natural variantiVAR_079871328K → E in DFNA15; decreases subcellular localization in the nucleus. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U10061, U10060 Genomic DNA Translation: AAA57160.1
AF044575 Genomic DNA Translation: AAC06203.1
BC104923 mRNA Translation: AAI04924.1
BC112207 mRNA Translation: AAI12208.1
CCDSiCCDS4281.1
RefSeqiNP_002691.1, NM_002700.2
UniGeneiHs.553499

Genome annotation databases

EnsembliENST00000230732; ENSP00000230732; ENSG00000091010
ENST00000646991; ENSP00000495718; ENSG00000091010
GeneIDi5459
KEGGihsa:5459
UCSCiuc003loa.2 human

Similar proteinsi

Entry informationi

Entry nameiPO4F3_HUMAN
AccessioniPrimary (citable) accession number: Q15319
Secondary accession number(s): O60557, Q2M3F8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: July 18, 2018
This is version 166 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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