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Protein

POU domain, class 3, transcription factor 4

Gene

POU3F4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:G66-33595-MONOMER.
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

HGNCiHGNC:9217. POU3F4.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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.
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

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

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation
Contains 1 POU-specific domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG3802. Eukaryota.
ENOG410XQ7X. LUCA.
HOGENOMiHOG000116303.
HOVERGENiHBG053120.
InParanoidiP49335.
KOiK09365.
OrthoDBiEOG091G0U0S.
PhylomeDBiP49335.
TreeFamiTF316413.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
1.10.260.40. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
IPR013847. POU.
IPR000327. POU_dom.
IPR016362. TF_POU_3.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF00157. Pou. 1 hit.
[Graphical view]
PIRSFiPIRSF002629. Transcription_factor_POU. 1 hit.
PRINTSiPR00028. POUDOMAIN.
SMARTiSM00389. HOX. 1 hit.
SM00352. POU. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00035. POU_1. 1 hit.
PS00465. POU_2. 1 hit.
PS51179. POU_3. 1 hit.
[Graphical view]

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 → A.2 PublicationsCorresponds to variant rs5921979dbSNPEnsembl.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. Translation: CAI42602.1.
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.

Cross-referencesi

Web resourcesi

Hereditary hearing loss homepage

Gene page

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X82324 mRNA. Translation: CAA57767.1.
AK314967 mRNA. Translation: BAG37468.1.
Z82170 Genomic DNA. Translation: CAI42602.1.
CH471104 Genomic DNA. Translation: EAW98577.1.
CCDSiCCDS14450.1.
PIRiA55557.
RefSeqiNP_000298.3. NM_000307.4.
UniGeneiHs.2229.

3D structure databases

ProteinModelPortaliP49335.
SMRiP49335.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000362296.

PTM databases

iPTMnetiP49335.
PhosphoSitePlusiP49335.

Polymorphism and mutation databases

DMDMi77416874.

Proteomic databases

MaxQBiP49335.
PaxDbiP49335.
PeptideAtlasiP49335.
PRIDEiP49335.

Protocols and materials databases

DNASUi5456.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi5456.
DisGeNETi5456.
GeneCardsiPOU3F4.
GeneReviewsiPOU3F4.
H-InvDBHIX0028415.
HGNCiHGNC:9217. POU3F4.
HPAiHPA031984.
MalaCardsiPOU3F4.
MIMi300039. gene.
304400. phenotype.
neXtProtiNX_P49335.
Orphaneti163988. Developmental delay - deafness, Hildebrand type.
383. X-linked mixed deafness with perilymphatic gusher.
PharmGKBiPA33541.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3802. Eukaryota.
ENOG410XQ7X. LUCA.
HOGENOMiHOG000116303.
HOVERGENiHBG053120.
InParanoidiP49335.
KOiK09365.
OrthoDBiEOG091G0U0S.
PhylomeDBiP49335.
TreeFamiTF316413.

Enzyme and pathway databases

BioCyciZFISH:G66-33595-MONOMER.
SIGNORiP49335.

Miscellaneous databases

GeneWikiiPOU3F4.
GenomeRNAii5456.
PROiP49335.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000196767.
CleanExiHS_POU3F4.
GenevisibleiP49335. HS.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
1.10.260.40. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
IPR013847. POU.
IPR000327. POU_dom.
IPR016362. TF_POU_3.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF00157. Pou. 1 hit.
[Graphical view]
PIRSFiPIRSF002629. Transcription_factor_POU. 1 hit.
PRINTSiPR00028. POUDOMAIN.
SMARTiSM00389. HOX. 1 hit.
SM00352. POU. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00035. POU_1. 1 hit.
PS00465. POU_2. 1 hit.
PS51179. POU_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPO3F4_HUMAN
AccessioniPrimary (citable) accession number: P49335
Secondary accession number(s): B2RC71, Q5H9G9, Q99410
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: October 11, 2005
Last modified: November 2, 2016
This is version 162 of the entry and version 2 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.