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Q15319

- PO4F3_HUMAN

UniProt

Q15319 - PO4F3_HUMAN

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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

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
Complete GO annotation...

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
Complete GO annotation...

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 non-syndromic 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

BioGridi111455. 1 interaction.
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.
GeneTreeiENSGT00760000118935.
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

        10         20         30         40         50
MMAMNSKQPF GMHPVLQEPK FSSLHSGSEA MRRVCLPAPQ LQGNIFGSFD
60 70 80 90 100
ESLLARAEAL AAVDIVSHGK NHPFKPDATY HTMSSVPCTS TSSTVPISHP
110 120 130 140 150
AALTSHPHHA VHQGLEGDLL EHISPTLSVS GLGAPEHSVM PAQIHPHHLG
160 170 180 190 200
AMGHLHQAMG MSHPHTVAPH SAMPACLSDV ESDPRELEAF AERFKQRRIK
210 220 230 240 250
LGVTQADVGA ALANLKIPGV GSLSQSTICR FESLTLSHNN MIALKPVLQA
260 270 280 290 300
WLEEAEAAYR EKNSKPELFN GSERKRKRTS IAAPEKRSLE AYFAIQPRPS
310 320 330
SEKIAAIAEK LDLKKNVVRV WFCNQRQKQK RMKYSAVH
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

BioGridi 111455. 1 interaction.
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 non-syndromic sensorineural deafness type DFNA.
PharmGKBi PA33544.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG289030.
GeneTreei ENSGT00760000118935.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 133 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