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P49335

- PO3F4_HUMAN

UniProt

P49335 - PO3F4_HUMAN

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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

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
Complete GO annotation...

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-KW
Complete GO annotation...

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.
GeneTreeiENSGT00760000118935.
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

        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)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.
GeneTreei ENSGT00760000118935.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 145 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