Q15319 (PO4F3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	POU4F3
Synonyms:	BRN3C

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	338 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Defects in POU4F3 are the cause of deafness autosomal dominant type 15 (DFNA15) [MIM:602459]. DFNA15 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. 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.

Ontologies

Keywords
Cellular component	Nucleus
Disease	Deafness Disease mutation Non-syndromic deafness
Domain	Homeobox
Ligand	DNA-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	sensory perception of sound Traceable author statement. Source: ProtInc visual perception Traceable author statement. Source: ProtInc
Cellular component	nucleus Inferred from direct assay. Source: HPA
Molecular function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro sequence-specific DNA binding transcription factor activity Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 338	338	POU domain, class 4, transcription factor 3		PRO_0000100742
Regions
	Domain	179 – 256	78	POU-specific
	DNA binding	274 – 333	60	Homeobox
	Motif	56 – 65	10	POU-IV box
Natural variations
	Natural variant	223	1	L → 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 variant	289	1	L → 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 conflict	67	1	S → F in AAC06203. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q15319 [UniParc]. Last modified November 1, 1996. Version 1. Checksum: E2D2EEB25B299A5C	FASTA	338	37,052
	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

References

	« Hide 'large scale' referencesShow '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: 7623109] [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: 9506947] [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: 15489334] [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: 18228599] [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

Hereditary hearing loss homepage

Gene page

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.
IPI	IPI00016424.
RefSeq	NP_002691.1. NM_002700.2.
UniGene	Hs.553499.
3D structure databases
ProteinModelPortal	Q15319.
SMR	Q15319. Positions 181-332.
ModBase	Search...
Protein-protein interaction databases
STRING	Q15319.
Polymorphism databases
DMDM	2495302.
Proteomic databases
PRIDE	Q15319.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000230732; ENSP00000230732; ENSG00000091010.
GeneID	5459.
KEGG	hsa:5459.
UCSC	uc003loa.1. human.
Organism-specific databases
CTD	5459.
GeneCards	GC05P145698.
H-InvDB	HIX0032115.
HGNC	HGNC:9220. POU4F3.
HPA	HPA038215.
MIM	602459. phenotype. 602460. gene.
neXtProt	NX_Q15319.
Orphanet	90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
PharmGKB	PA33544.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG12710.
GeneTree	ENSGT00580000081294.
HOGENOM	HBG714425.
HOVERGEN	HBG031829.
InParanoid	Q15319.
OMA	SHGKSHP.
OrthoDB	EOG4NP745.
PhylomeDB	Q15319.
Gene expression databases
ArrayExpress	Q15319.
CleanEx	HS_POU4F3.
Genevestigator	Q15319.
GermOnline	ENSG00000091010. Homo sapiens.
Family and domain databases
InterPro	IPR001356. Homeobox. IPR017970. Homeobox_CS. IPR009057. Homeodomain-like. IPR012287. Homeodomain-rel. IPR010982. Lambda_DNA-bd. IPR013847. POU. IPR015584. POU4-related. IPR000327. POU_specific. [Graphical view]
Gene3D	G3DSA:1.10.260.40. G3DSA:1.10.260.40. 1 hit. G3DSA:1.10.10.60. Homeodomain-rel. 1 hit.
KO	K09366.
PANTHER	PTHR11636:SF10. POU_4_related. 1 hit.
Pfam	PF00046. Homeobox. 1 hit. PF00157. Pou. 1 hit. [Graphical view]
PRINTS	PR00028. POUDOMAIN.
SMART	SM00389. HOX. 1 hit. SM00352. POU. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit. SSF47413. Lambda_like_DNA. 1 hit.
PROSITE	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]
ProtoNet	Search...
Other
NextBio	21131.
SOURCE	Search...

Entry information

Entry name

PO4F3_HUMAN

Accession

Primary (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:	January 25, 2012
This is version 110 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.