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Q15319 (PO4F3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified February 19, 2014. Version 129. 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 4, transcription factor 3
Alternative name(s):
Brain-specific homeobox/POU domain protein 3C
Short name=Brain-3C
Short name=Brn-3C
Gene names
Name:POU4F3
Synonyms:BRN3C
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length338 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Nucleus.

Tissue specificity

Brain. Seems to be specific to the retina. Ref.1 Ref.2

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2 Ref.4

Sequence similarities

Belongs to the POU transcription factor family. Class-4 subfamily.

Contains 1 homeobox DNA-binding domain.

Contains 1 POU-specific domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 338338POU domain, class 4, transcription factor 3
PRO_0000100742

Regions

Domain179 – 25678POU-specific
DNA binding274 – 33360Homeobox
Motif56 – 6510POU-IV box

Natural variations

Natural variant2231L → 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. Ref.4
VAR_045682
Natural variant2891L → 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. Ref.4
VAR_045683

Experimental info

Sequence conflict671S → F in AAC06203. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q15319 [UniParc].

Last modified November 1, 1996. Version 1.
Checksum: E2D2EEB25B299A5C

FASTA33837,052
        10         20         30         40         50         60 
MMAMNSKQPF GMHPVLQEPK FSSLHSGSEA MRRVCLPAPQ LQGNIFGSFD ESLLARAEAL 

        70         80         90        100        110        120 
AAVDIVSHGK NHPFKPDATY HTMSSVPCTS TSSTVPISHP AALTSHPHHA VHQGLEGDLL 

       130        140        150        160        170        180 
EHISPTLSVS GLGAPEHSVM PAQIHPHHLG AMGHLHQAMG MSHPHTVAPH SAMPACLSDV 

       190        200        210        220        230        240 
ESDPRELEAF AERFKQRRIK LGVTQADVGA ALANLKIPGV GSLSQSTICR FESLTLSHNN 

       250        260        270        280        290        300 
MIALKPVLQA WLEEAEAAYR EKNSKPELFN GSERKRKRTS IAAPEKRSLE AYFAIQPRPS 

       310        320        330 
SEKIAAIAEK LDLKKNVVRV WFCNQRQKQK RMKYSAVH 

« Hide

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U10061, U10060 Genomic DNA. Translation: AAA57160.1.
AF044575 Genomic DNA. Translation: AAC06203.1.
BC104923 mRNA. Translation: AAI04924.1.
BC112207 mRNA. Translation: AAI12208.1.
RefSeqNP_002691.1. NM_002700.2.
UniGeneHs.553499.

3D structure databases

ProteinModelPortalQ15319.
SMRQ15319. Positions 183-332.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000230732.

Polymorphism databases

DMDM2495302.

Proteomic databases

PaxDbQ15319.
PRIDEQ15319.

Protocols and materials databases

DNASU5459.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000230732; ENSP00000230732; ENSG00000091010.
GeneID5459.
KEGGhsa:5459.
UCSCuc003loa.2. human.

Organism-specific databases

CTD5459.
GeneCardsGC05P145698.
HGNCHGNC:9220. POU4F3.
HPAHPA038215.
MIM602459. phenotype.
602460. gene.
neXtProtNX_Q15319.
Orphanet90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
PharmGKBPA33544.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG289030.
HOGENOMHOG000116305.
HOVERGENHBG031829.
InParanoidQ15319.
KOK09366.
OMASHGKSHP.
OrthoDBEOG7RV9G7.
PhylomeDBQ15319.
TreeFamTF316413.

Gene expression databases

CleanExHS_POU4F3.
GenevestigatorQ15319.

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.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
PF00157. Pou. 1 hit.
[Graphical view]
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

GeneWikiPOU4F3.
GenomeRNAi5459.
NextBio21131.
PROQ15319.
SOURCESearch...

Entry information

Entry namePO4F3_HUMAN
AccessionPrimary (citable) accession number: Q15319
Secondary accession number(s): O60557, Q2M3F8
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: February 19, 2014
This is version 129 of the entry and version 1 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 5

Human chromosome 5: entries, gene names and cross-references to MIM