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P49335 (PO3F4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 143. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:POU3F4
Synonyms:BRN4, OTF9
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length361 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

Nucleus.

Tissue specificity

Brain specific.

Involvement in disease

Deafness, X-linked, 2 (DFNX2) [MIM:304400]: A form of deafness characterized by both conductive hearing loss resulting from stapes (perilymphatic gusher) fixation, and progressive sensorineural deafness.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.5 Ref.6 Ref.7

Sequence similarities

Belongs to the POU transcription factor family. Class-3 subfamily.

Contains 1 homeobox DNA-binding domain.

Contains 1 POU-specific domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 361361POU domain, class 3, transcription factor 4
PRO_0000100732

Regions

Domain186 – 26075POU-specific
DNA binding278 – 33760Homeobox

Natural variations

Natural variant201 – 2022Missing in DFNX2.
VAR_015261
Natural variant2371G → A. Ref.1 Ref.2
Corresponds to variant rs5921979 [ dbSNP | Ensembl ].
VAR_067431
Natural variant3121A → V in DFNX2. Ref.5
VAR_003782
Natural variant3171L → W in DFNX2. Ref.1
VAR_003783
Natural variant3231R → G in DFNX2; somatic mosaicism in 50% of the peripheral blood lymphocytes. Ref.6
VAR_003784
Natural variant3301R → S in DFNX2. Ref.6
VAR_003785
Natural variant3341K → E in DFNX2. Ref.1
VAR_003786

Sequences

Sequence LengthMass (Da)Tools
P49335 [UniParc].

Last modified October 11, 2005. Version 2.
Checksum: DE30602CFAC4683A

FASTA36139,427
        10         20         30         40         50         60 
MATAASNPYS ILSSTSLVHA DSAGMQQGSP FRNPQKLLQS DYLQGVPSNG HPLGHHWVTS 

        70         80         90        100        110        120 
LSDGGPWSST LATSPLDQQD VKPGREDLQL GAIIHHRSPH VAHHSPHTNH PNAWGASPAP 

       130        140        150        160        170        180 
NPSITSSGQP LNVYSQPGFT VSGMLEHGGL TPPPAAASAQ SLHPVLREPP DHGELGSHHC 

       190        200        210        220        230        240 
QDHSDEETPT SDELEQFAKQ FKQRRIKLGF TQADVGLALG TLYGNVFSQT TICRFEGLQL 

       250        260        270        280        290        300 
SFKNMCKLKP LLNKWLEEAD SSTGSPTSID KIAAQGRKRK KRTSIEVSVK GVLETHFLKC 

       310        320        330        340        350        360 
PKPAAQEISS LADSLQLEKE VVRVWFCNRR QKEKRMTPPG DQQPHEVYSH TVKTDTSCHD 


L 

« Hide

References

« Hide 'large scale' references
[1]"Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4."
de Kok Y.J.M., van der Maarel S.M., Bitner-Glindzicz M., Huber I., Monaco A.P., Malcolm S., Pembrey M.E., Ropers H.-H., Cremers F.P.M.
Science 267:685-688(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS ALA-237; DFNX2 TRP-317 AND GLU-334.
Tissue: Brain.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-237.
Tissue: Brain.
[3]"The DNA sequence of the human X chromosome."
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. expand/collapse author list , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3."
Bitner-Glindzicz M., Turnpenny P., Hoeglund P., Keaearieainen H., Sankila E.-M., van der Maarel S.M., de Kok Y.J.M., Ropers H.-H., Cremers F.P.M., Pembrey M., Malcolm S.
Hum. Mol. Genet. 4:1467-1469(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DFNX2 VAL-312.
[6]"The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation."
de Kok Y.J.M., Cremers C.W.R.J., Ropers H.-H., Cremers F.P.M.
Hum. Mutat. 10:207-211(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DFNX2 GLY-323 AND SER-330.
[7]"A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3)."
Hagiwara H., Tamagawa Y., Kitamura K., Kodera K.
Laryngoscope 108:1544-1547(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DFNX2 201-PHE-LYS-202 DEL.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X82324 mRNA. Translation: CAA57767.1.
AK314967 mRNA. Translation: BAG37468.1.
Z82170 Genomic DNA. Translation: CAI42602.1.
CH471104 Genomic DNA. Translation: EAW98577.1.
CCDSCCDS14450.1.
PIRA55557.
RefSeqNP_000298.3. NM_000307.4.
UniGeneHs.2229.

3D structure databases

ProteinModelPortalP49335.
SMRP49335. Positions 189-338.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111452. 3 interactions.
STRING9606.ENSP00000362296.

PTM databases

PhosphoSiteP49335.

Polymorphism databases

DMDM77416874.

Proteomic databases

MaxQBP49335.
PaxDbP49335.
PRIDEP49335.

Protocols and materials databases

DNASU5456.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000373200; ENSP00000362296; ENSG00000196767.
GeneID5456.
KEGGhsa:5456.
UCSCuc004eeg.2. human.

Organism-specific databases

CTD5456.
GeneCardsGC0XP082763.
GeneReviewsPOU3F4.
H-InvDBHIX0028415.
HGNCHGNC:9217. POU3F4.
HPAHPA031984.
MIM300039. gene.
304400. phenotype.
neXtProtNX_P49335.
Orphanet163988. Developmental delay - deafness, Hildebrand type.
383. X-linked mixed deafness with perilymphatic gusher.
PharmGKBPA33541.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG261729.
HOGENOMHOG000116303.
HOVERGENHBG053120.
InParanoidP49335.
KOK09365.
OMAMQPASPY.
OrthoDBEOG7DJSMG.
PhylomeDBP49335.
TreeFamTF316413.

Gene expression databases

BgeeP49335.
CleanExHS_POU3F4.
GenevestigatorP49335.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
1.10.260.40. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
IPR013847. POU.
IPR000327. POU_specific.
IPR016362. Transcription_factor_POU.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
PF00157. Pou. 1 hit.
[Graphical view]
PIRSFPIRSF002629. Transcription_factor_POU. 1 hit.
PRINTSPR00028. POUDOMAIN.
SMARTSM00389. HOX. 1 hit.
SM00352. POU. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 1 hit.
PROSITEPS00027. 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]
ProtoNetSearch...

Other

GeneWikiPOU3F4.
GenomeRNAi5456.
NextBio21117.
PROP49335.
SOURCESearch...

Entry information

Entry namePO3F4_HUMAN
AccessionPrimary (citable) accession number: P49335
Secondary accession number(s): B2RC71, Q5H9G9, Q99410
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: October 11, 2005
Last modified: July 9, 2014
This is version 143 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM