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P49335

- PO3F4_HUMAN

UniProt

P49335 - PO3F4_HUMAN

Protein

POU domain, class 3, transcription factor 4

Gene

POU3F4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 144 (01 Oct 2014)
      Sequence version 2 (11 Oct 2005)
      Previous versions | rss
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    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)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi278 – 33760HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. AT DNA binding Source: Ensembl
    2. double-stranded DNA binding Source: Ensembl
    3. sequence-specific DNA binding transcription factor activity Source: ProtInc

    GO - Biological processi

    1. cochlea morphogenesis Source: UniProtKB
    2. forebrain neuron differentiation Source: Ensembl
    3. negative regulation of mesenchymal cell apoptotic process Source: UniProtKB
    4. sensory perception of sound Source: ProtInc
    5. transcription from RNA polymerase II promoter Source: Ensembl

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    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
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:9217. POU3F4.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti201 – 2022Missing in DFNX2. 1 Publication
    VAR_015261
    Natural varianti312 – 3121A → V in DFNX2. 1 Publication
    VAR_003782
    Natural varianti317 – 3171L → W in DFNX2. 1 Publication
    VAR_003783
    Natural varianti323 – 3231R → G in DFNX2; somatic mosaicism in 50% of the peripheral blood lymphocytes. 1 Publication
    VAR_003784
    Natural varianti330 – 3301R → S in DFNX2. 1 Publication
    VAR_003785
    Natural varianti334 – 3341K → E in DFNX2. 1 Publication
    VAR_003786

    Keywords - Diseasei

    Deafness, Disease mutation, Non-syndromic deafness

    Organism-specific databases

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

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 361361POU domain, class 3, transcription factor 4PRO_0000100732Add
    BLAST

    Proteomic databases

    MaxQBiP49335.
    PaxDbiP49335.
    PRIDEiP49335.

    PTM databases

    PhosphoSiteiP49335.

    Expressioni

    Tissue specificityi

    Brain specific.

    Gene expression databases

    BgeeiP49335.
    CleanExiHS_POU3F4.
    GenevestigatoriP49335.

    Organism-specific databases

    HPAiHPA031984.

    Interactioni

    Protein-protein interaction databases

    BioGridi111452. 3 interactions.
    STRINGi9606.ENSP00000362296.

    Structurei

    3D structure databases

    ProteinModelPortaliP49335.
    SMRiP49335. Positions 189-338.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini186 – 26075POU-specificPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

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

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG261729.
    HOGENOMiHOG000116303.
    HOVERGENiHBG053120.
    InParanoidiP49335.
    KOiK09365.
    OMAiMQPASPY.
    OrthoDBiEOG7DJSMG.
    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_specific.
    IPR016362. Transcription_factor_POU.
    [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

    MATAASNPYS ILSSTSLVHA DSAGMQQGSP FRNPQKLLQS DYLQGVPSNG    50
    HPLGHHWVTS LSDGGPWSST LATSPLDQQD VKPGREDLQL GAIIHHRSPH 100
    VAHHSPHTNH PNAWGASPAP NPSITSSGQP LNVYSQPGFT VSGMLEHGGL 150
    TPPPAAASAQ SLHPVLREPP DHGELGSHHC QDHSDEETPT SDELEQFAKQ 200
    FKQRRIKLGF TQADVGLALG TLYGNVFSQT TICRFEGLQL SFKNMCKLKP 250
    LLNKWLEEAD SSTGSPTSID KIAAQGRKRK KRTSIEVSVK GVLETHFLKC 300
    PKPAAQEISS LADSLQLEKE VVRVWFCNRR QKEKRMTPPG DQQPHEVYSH 350
    TVKTDTSCHD L 361
    Length:361
    Mass (Da):39,427
    Last modified:October 11, 2005 - v2
    Checksum:iDE30602CFAC4683A
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti201 – 2022Missing in DFNX2. 1 Publication
    VAR_015261
    Natural varianti237 – 2371G → A.2 Publications
    Corresponds to variant rs5921979 [ dbSNP | Ensembl ].
    VAR_067431
    Natural varianti312 – 3121A → V in DFNX2. 1 Publication
    VAR_003782
    Natural varianti317 – 3171L → W in DFNX2. 1 Publication
    VAR_003783
    Natural varianti323 – 3231R → G in DFNX2; somatic mosaicism in 50% of the peripheral blood lymphocytes. 1 Publication
    VAR_003784
    Natural varianti330 – 3301R → S in DFNX2. 1 Publication
    VAR_003785
    Natural varianti334 – 3341K → E in DFNX2. 1 Publication
    VAR_003786

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.2. human.

    Polymorphism databases

    DMDMi77416874.

    Cross-referencesi

    Web resourcesi

    Hereditary hearing loss homepage

    Gene page

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X82324 mRNA. Translation: CAA57767.1 .
    AK314967 mRNA. Translation: BAG37468.1 .
    Z82170 Genomic DNA. Translation: CAI42602.1 .
    CH471104 Genomic DNA. Translation: EAW98577.1 .
    CCDSi CCDS14450.1.
    PIRi A55557.
    RefSeqi NP_000298.3. NM_000307.4.
    UniGenei Hs.2229.

    3D structure databases

    ProteinModelPortali P49335.
    SMRi P49335. Positions 189-338.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111452. 3 interactions.
    STRINGi 9606.ENSP00000362296.

    PTM databases

    PhosphoSitei P49335.

    Polymorphism databases

    DMDMi 77416874.

    Proteomic databases

    MaxQBi P49335.
    PaxDbi P49335.
    PRIDEi P49335.

    Protocols and materials databases

    DNASUi 5456.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000373200 ; ENSP00000362296 ; ENSG00000196767 .
    GeneIDi 5456.
    KEGGi hsa:5456.
    UCSCi uc004eeg.2. human.

    Organism-specific databases

    CTDi 5456.
    GeneCardsi GC0XP082763.
    GeneReviewsi POU3F4.
    H-InvDB HIX0028415.
    HGNCi HGNC:9217. POU3F4.
    HPAi HPA031984.
    MIMi 300039. gene.
    304400. phenotype.
    neXtProti NX_P49335.
    Orphaneti 163988. Developmental delay - deafness, Hildebrand type.
    383. X-linked mixed deafness with perilymphatic gusher.
    PharmGKBi PA33541.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG261729.
    HOGENOMi HOG000116303.
    HOVERGENi HBG053120.
    InParanoidi P49335.
    KOi K09365.
    OMAi MQPASPY.
    OrthoDBi EOG7DJSMG.
    PhylomeDBi P49335.
    TreeFami TF316413.

    Miscellaneous databases

    GeneWikii POU3F4.
    GenomeRNAii 5456.
    NextBioi 21117.
    PROi P49335.
    SOURCEi Search...

    Gene expression databases

    Bgeei P49335.
    CleanExi HS_POU3F4.
    Genevestigatori P49335.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    1.10.260.40. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR010982. Lambda_DNA-bd_dom.
    IPR013847. POU.
    IPR000327. POU_specific.
    IPR016362. Transcription_factor_POU.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    PF00157. Pou. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF002629. Transcription_factor_POU. 1 hit.
    PRINTSi PR00028. POUDOMAIN.
    SMARTi SM00389. HOX. 1 hit.
    SM00352. POU. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    SSF47413. SSF47413. 1 hit.
    PROSITEi 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.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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.
      , 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. 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.

    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: October 1, 2014
    This is version 144 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

    External Data

    Dasty 3