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Protein

POU domain, class 3, transcription factor 4

Gene

POU3F4

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

Functioni

Probable transcription factor which exert its primary action widely during early neural development and in a very limited set of neurons in the mature brain.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi278 – 337HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNORiP49335

Names & Taxonomyi

Protein namesi
Recommended name:
POU domain, class 3, transcription factor 4
Alternative name(s):
Brain-specific homeobox/POU domain protein 4
Short name:
Brain-4
Short name:
Brn-4
Octamer-binding protein 9
Short name:
Oct-9
Octamer-binding transcription factor 9
Short name:
OTF-9
Gene namesi
Name:POU3F4
Synonyms:BRN4, OTF9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000196767.6
HGNCiHGNC:9217 POU3F4
MIMi300039 gene
neXtProtiNX_P49335

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, X-linked, 2 (DFNX2)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of deafness characterized by both conductive hearing loss resulting from stapes (perilymphatic gusher) fixation, and progressive sensorineural deafness.
See also OMIM:304400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015261201 – 202Missing in DFNX2. 1 Publication2
Natural variantiVAR_003782312A → V in DFNX2. 1 Publication1
Natural variantiVAR_003783317L → W in DFNX2. 1 Publication1
Natural variantiVAR_003784323R → G in DFNX2; somatic mosaicism in 50% of the peripheral blood lymphocytes. 1 Publication1
Natural variantiVAR_003785330R → S in DFNX2. 1 Publication1
Natural variantiVAR_003786334K → E in DFNX2. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNETi5456
GeneReviewsiPOU3F4
MalaCardsiPOU3F4
MIMi304400 phenotype
Orphaneti163988 Developmental delay - deafness, Hildebrand type
383 X-linked mixed deafness with perilymphatic gusher
PharmGKBiPA33541

Polymorphism and mutation databases

DMDMi77416874

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001007321 – 361POU domain, class 3, transcription factor 4Add BLAST361

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei265PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP49335
PaxDbiP49335
PeptideAtlasiP49335
PRIDEiP49335

PTM databases

iPTMnetiP49335
PhosphoSitePlusiP49335

Expressioni

Tissue specificityi

Brain specific.

Gene expression databases

BgeeiENSG00000196767
CleanExiHS_POU3F4
GenevisibleiP49335 HS

Organism-specific databases

HPAiHPA031984

Interactioni

Subunit structurei

Interacts with HNRNPU.1 Publication

Protein-protein interaction databases

STRINGi9606.ENSP00000362296

Structurei

3D structure databases

ProteinModelPortaliP49335
SMRiP49335
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini186 – 260POU-specificPROSITE-ProRule annotationAdd BLAST75

Sequence similaritiesi

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG3802 Eukaryota
ENOG410XQ7X LUCA
HOGENOMiHOG000116303
HOVERGENiHBG053120
InParanoidiP49335
KOiK09365
OrthoDBiEOG091G0U0S
PhylomeDBiP49335
TreeFamiTF316413

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR010982 Lambda_DNA-bd_dom_sf
IPR013847 POU
IPR000327 POU_dom
IPR016362 TF_POU_3
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PF00157 Pou, 1 hit
PIRSFiPIRSF002629 Transcription_factor_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.

P49335-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MATAASNPYS ILSSTSLVHA DSAGMQQGSP FRNPQKLLQS DYLQGVPSNG
60 70 80 90 100
HPLGHHWVTS LSDGGPWSST LATSPLDQQD VKPGREDLQL GAIIHHRSPH
110 120 130 140 150
VAHHSPHTNH PNAWGASPAP NPSITSSGQP LNVYSQPGFT VSGMLEHGGL
160 170 180 190 200
TPPPAAASAQ SLHPVLREPP DHGELGSHHC QDHSDEETPT SDELEQFAKQ
210 220 230 240 250
FKQRRIKLGF TQADVGLALG TLYGNVFSQT TICRFEGLQL SFKNMCKLKP
260 270 280 290 300
LLNKWLEEAD SSTGSPTSID KIAAQGRKRK KRTSIEVSVK GVLETHFLKC
310 320 330 340 350
PKPAAQEISS LADSLQLEKE VVRVWFCNRR QKEKRMTPPG DQQPHEVYSH
360
TVKTDTSCHD L
Length:361
Mass (Da):39,427
Last modified:October 11, 2005 - v2
Checksum:iDE30602CFAC4683A
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015261201 – 202Missing in DFNX2. 1 Publication2
Natural variantiVAR_067431237G → A2 PublicationsCorresponds to variant dbSNP:rs5921979Ensembl.1
Natural variantiVAR_003782312A → V in DFNX2. 1 Publication1
Natural variantiVAR_003783317L → W in DFNX2. 1 Publication1
Natural variantiVAR_003784323R → G in DFNX2; somatic mosaicism in 50% of the peripheral blood lymphocytes. 1 Publication1
Natural variantiVAR_003785330R → S in DFNX2. 1 Publication1
Natural variantiVAR_003786334K → E in DFNX2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X82324 mRNA Translation: CAA57767.1
AK314967 mRNA Translation: BAG37468.1
Z82170 Genomic DNA No translation available.
CH471104 Genomic DNA Translation: EAW98577.1
CCDSiCCDS14450.1
PIRiA55557
RefSeqiNP_000298.3, NM_000307.4
UniGeneiHs.2229

Genome annotation databases

EnsembliENST00000373200; ENSP00000362296; ENSG00000196767
GeneIDi5456
KEGGihsa:5456
UCSCiuc004eeg.3 human

Similar proteinsi

Entry informationi

Entry nameiPO3F4_HUMAN
AccessioniPrimary (citable) accession number: P49335
Secondary accession number(s): B2RC71, Q5H9G9, Q99410
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: October 11, 2005
Last modified: May 23, 2018
This is version 172 of the entry and version 2 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 X
    Human chromosome X: 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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