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Q15319

- PO4F3_HUMAN

UniProt

Q15319 - PO4F3_HUMAN

Protein

POU domain, class 4, transcription factor 3

Gene

POU4F3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 132 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      Previous versions | rss
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    Functioni

    May play a role in determining or maintaining the identities of a small subset of visual system neurons.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi274 – 33360HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: NTNU_SB
    2. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: NTNU_SB
    3. sequence-specific DNA binding transcription factor activity Source: ProtInc

    GO - Biological processi

    1. auditory receptor cell differentiation Source: Ensembl
    2. axon extension Source: Ensembl
    3. inner ear morphogenesis Source: Ensembl
    4. neuromuscular process controlling balance Source: Ensembl
    5. neuron apoptotic process Source: Ensembl
    6. positive regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
    7. retinal ganglion cell axon guidance Source: Ensembl
    8. sensory perception of sound Source: ProtInc
    9. vestibulocochlear nerve development Source: Ensembl
    10. visual perception Source: ProtInc

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    POU domain, class 4, transcription factor 3
    Alternative name(s):
    Brain-specific homeobox/POU domain protein 3C
    Short name:
    Brain-3C
    Short name:
    Brn-3C
    Gene namesi
    Name:POU4F3
    Synonyms:BRN3C
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:9220. POU4F3.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: HPA

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459]: A form of non-syndromic hearing loss with variable phenotype in terms of age at onset, levels of progression, and shape of audiograms.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti223 – 2231L → P in DFNA15; whereas wild-type protein is located in the nucleus part of the mutant protein is also present in the cytoplasm; mutant protein shows greatly reduced capability for binding to DNA as well as transcriptionally activating reporter gene expression. 1 Publication
    VAR_045682
    Natural varianti289 – 2891L → F in DFNA15; whereas wild-type protein is located in the nucleus part of the mutant protein is also present in the cytoplasm; mutant protein shows greatly reduced capability for binding to DNA as well as transcriptionally activating reporter gene expression. 1 Publication
    VAR_045683

    Keywords - Diseasei

    Deafness, Disease mutation, Non-syndromic deafness

    Organism-specific databases

    MIMi602459. phenotype.
    Orphaneti90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
    PharmGKBiPA33544.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 338338POU domain, class 4, transcription factor 3PRO_0000100742Add
    BLAST

    Proteomic databases

    PaxDbiQ15319.
    PRIDEiQ15319.

    Expressioni

    Tissue specificityi

    Brain. Seems to be specific to the retina.2 Publications

    Gene expression databases

    CleanExiHS_POU4F3.
    GenevestigatoriQ15319.

    Organism-specific databases

    HPAiHPA038215.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000230732.

    Structurei

    3D structure databases

    ProteinModelPortaliQ15319.
    SMRiQ15319. Positions 183-332.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini179 – 25678POU-specificPROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi56 – 6510POU-IV box

    Sequence similaritiesi

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

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG289030.
    HOGENOMiHOG000116305.
    HOVERGENiHBG031829.
    InParanoidiQ15319.
    KOiK09366.
    OMAiSHGKSHP.
    OrthoDBiEOG7RV9G7.
    PhylomeDBiQ15319.
    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.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    PF00157. Pou. 1 hit.
    [Graphical view]
    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.

    Q15319-1 [UniParc]FASTAAdd to Basket

    « Hide

    MMAMNSKQPF GMHPVLQEPK FSSLHSGSEA MRRVCLPAPQ LQGNIFGSFD    50
    ESLLARAEAL AAVDIVSHGK NHPFKPDATY HTMSSVPCTS TSSTVPISHP 100
    AALTSHPHHA VHQGLEGDLL EHISPTLSVS GLGAPEHSVM PAQIHPHHLG 150
    AMGHLHQAMG MSHPHTVAPH SAMPACLSDV ESDPRELEAF AERFKQRRIK 200
    LGVTQADVGA ALANLKIPGV GSLSQSTICR FESLTLSHNN MIALKPVLQA 250
    WLEEAEAAYR EKNSKPELFN GSERKRKRTS IAAPEKRSLE AYFAIQPRPS 300
    SEKIAAIAEK LDLKKNVVRV WFCNQRQKQK RMKYSAVH 338
    Length:338
    Mass (Da):37,052
    Last modified:November 1, 1996 - v1
    Checksum:iE2D2EEB25B299A5C
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti67 – 671S → F in AAC06203. (PubMed:9506947)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti223 – 2231L → P in DFNA15; whereas wild-type protein is located in the nucleus part of the mutant protein is also present in the cytoplasm; mutant protein shows greatly reduced capability for binding to DNA as well as transcriptionally activating reporter gene expression. 1 Publication
    VAR_045682
    Natural varianti289 – 2891L → F in DFNA15; whereas wild-type protein is located in the nucleus part of the mutant protein is also present in the cytoplasm; mutant protein shows greatly reduced capability for binding to DNA as well as transcriptionally activating reporter gene expression. 1 Publication
    VAR_045683

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U10061, U10060 Genomic DNA. Translation: AAA57160.1.
    AF044575 Genomic DNA. Translation: AAC06203.1.
    BC104923 mRNA. Translation: AAI04924.1.
    BC112207 mRNA. Translation: AAI12208.1.
    CCDSiCCDS4281.1.
    RefSeqiNP_002691.1. NM_002700.2.
    UniGeneiHs.553499.

    Genome annotation databases

    EnsembliENST00000230732; ENSP00000230732; ENSG00000091010.
    GeneIDi5459.
    KEGGihsa:5459.
    UCSCiuc003loa.2. human.

    Polymorphism databases

    DMDMi2495302.

    Cross-referencesi

    Web resourcesi

    Hereditary hearing loss homepage

    Gene page

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U10061 , U10060 Genomic DNA. Translation: AAA57160.1 .
    AF044575 Genomic DNA. Translation: AAC06203.1 .
    BC104923 mRNA. Translation: AAI04924.1 .
    BC112207 mRNA. Translation: AAI12208.1 .
    CCDSi CCDS4281.1.
    RefSeqi NP_002691.1. NM_002700.2.
    UniGenei Hs.553499.

    3D structure databases

    ProteinModelPortali Q15319.
    SMRi Q15319. Positions 183-332.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000230732.

    Polymorphism databases

    DMDMi 2495302.

    Proteomic databases

    PaxDbi Q15319.
    PRIDEi Q15319.

    Protocols and materials databases

    DNASUi 5459.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000230732 ; ENSP00000230732 ; ENSG00000091010 .
    GeneIDi 5459.
    KEGGi hsa:5459.
    UCSCi uc003loa.2. human.

    Organism-specific databases

    CTDi 5459.
    GeneCardsi GC05P145698.
    GeneReviewsi POU4F3.
    HGNCi HGNC:9220. POU4F3.
    HPAi HPA038215.
    MIMi 602459. phenotype.
    602460. gene.
    neXtProti NX_Q15319.
    Orphaneti 90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
    PharmGKBi PA33544.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG289030.
    HOGENOMi HOG000116305.
    HOVERGENi HBG031829.
    InParanoidi Q15319.
    KOi K09366.
    OMAi SHGKSHP.
    OrthoDBi EOG7RV9G7.
    PhylomeDBi Q15319.
    TreeFami TF316413.

    Miscellaneous databases

    GeneWikii POU4F3.
    GenomeRNAii 5459.
    NextBioi 21131.
    PROi Q15319.
    SOURCEi Search...

    Gene expression databases

    CleanExi HS_POU4F3.
    Genevestigatori Q15319.

    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.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    PF00157. Pou. 1 hit.
    [Graphical view ]
    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. "The Brn-3 family of POU-domain factors: primary structure, binding specificity, and expression in subsets of retinal ganglion cells and somatosensory neurons."
      Xiang M., Zhou L.-J., Macke J.P., Yoshioka T., Hendry S.H., Eddy R.L., Shows T.B., Nathans J.
      J. Neurosci. 15:4762-4785(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY.
    2. "Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans."
      Vahava O., Morell R., Lynch E.D., Weiss S., Kagan M.E., Ahituv N., Morrow J.E., Lee M.K., Skvorak A.B., Morton C.C., Blumenfeld A., Frydman M., Friedman T.B., King M.-C., Avraham K.B.
      Science 279:1950-1954(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY, INVOLVEMENT IN DFNA15.
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. "Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding."
      Collin R.W.J., Chellappa R., Pauw R.-J., Vriend G., Oostrik J., van Drunen W., Huygen P.L., Admiraal R., Hoefsloot L.H., Cremers F.P.M., Xiang M., Cremers C.W.R.J., Kremer H.
      Hum. Mutat. 29:545-554(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS DFNA15 PRO-223 AND PHE-289, CHARACTERIZATION OF VARIANTS DFNA15 PRO-223 AND PHE-289.

    Entry informationi

    Entry nameiPO4F3_HUMAN
    AccessioniPrimary (citable) accession number: Q15319
    Secondary accession number(s): O60557, Q2M3F8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: November 1, 1996
    Last modified: October 1, 2014
    This is version 132 of the entry and version 1 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 5
      Human chromosome 5: 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