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Protein

POU domain, class 4, transcription factor 3

Gene

POU4F3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

Regions

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

GO - Molecular functioni

GO - Biological processi

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.

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

Nucleus

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal dominant, 15 (DFNA15)2 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_045682223L → P in DFNA15; whereas wild-type protein is located in the nucleus part of the mutant protein is also present in the cytoplasm; mutant protein shows greatly reduced capability for binding to DNA as well as transcriptionally activating reporter gene expression. 1 PublicationCorresponds to variant dbSNP:rs121909057Ensembl.1
Natural variantiVAR_045683289L → F in DFNA15; whereas wild-type protein is located in the nucleus part of the mutant protein is also present in the cytoplasm; mutant protein shows greatly reduced capability for binding to DNA as well as transcriptionally activating reporter gene expression. 1 PublicationCorresponds to variant dbSNP:rs121909056Ensembl.1

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.

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

Binary interactionsi

WithEntry#Exp.IntActNotes
GOLGA2Q083794EBI-12033574,EBI-618309

Protein-protein interaction databases

BioGridi111455. 2 interactors.
IntActiQ15319. 4 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.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR010982. Lambda_DNA-bd_dom.
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_045682223L → P in DFNA15; whereas wild-type protein is located in the nucleus part of the mutant protein is also present in the cytoplasm; mutant protein shows greatly reduced capability for binding to DNA as well as transcriptionally activating reporter gene expression. 1 PublicationCorresponds to variant dbSNP:rs121909057Ensembl.1
Natural variantiVAR_045683289L → F in DFNA15; whereas wild-type protein is located in the nucleus part of the mutant protein is also present in the cytoplasm; mutant protein shows greatly reduced capability for binding to DNA as well as transcriptionally activating reporter gene expression. 1 PublicationCorresponds to variant dbSNP:rs121909056Ensembl.1

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.
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: October 25, 2017
This is version 157 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