Q01851 (PO4F1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
POU domain, class 4, transcription factor 1

Alternative name(s):
Brain-specific homeobox/POU domain protein 3A
Short name=Brain-3A
Short name=Brn-3A
Homeobox/POU domain protein RDC-1
Oct-T1

Gene names

Name:	POU4F1
Synonyms:	BRN3A, RDC1

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	419 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Probable transcription factor which may play a role in the regulation of specific gene expression within a subset of neuronal lineages. 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. Present in the developing brain, spinal cord and eye.
Developmental stage	Expression peaks early in embryogenesis (day 13.5) and is undetectable 14 days after birth.
Sequence similarities	Belongs to the POU transcription factor family. Class-4 subfamily. Contains 1 homeobox DNA-binding domain. Contains 1 POU-specific domain.
Sequence caution	The sequence CAA45907.1 differs from that shown. Reason: Frameshift at positions 11, 13, 33, 43, 57, 61, 74, 76, 133, 135, 138, 340 and 342.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	axonogenesis Traceable author statement. Source: BHF-UCL innervation Traceable author statement. Source: BHF-UCL negative regulation of neuron apoptosis Traceable author statement. Source: BHF-UCL negative regulation of transcription from RNA polymerase II promoter Inferred from sequence or structural similarity. Source: BHF-UCL neuron fate specification Inferred from sequence or structural similarity. Source: BHF-UCL peripheral nervous system neuron development Inferred from sequence or structural similarity. Source: BHF-UCL positive regulation of transcription from RNA polymerase II promoter Inferred from sequence or structural similarity. Source: BHF-UCL sensory system development Inferred from sequence or structural similarity. Source: BHF-UCL synapse assembly Traceable author statement. Source: ProtInc trigeminal nerve development Inferred from sequence or structural similarity. Source: BHF-UCL
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	RNA polymerase II distal enhancer sequence-specific DNA binding Inferred from sequence or structural similarity. Source: BHF-UCL sequence-specific distal enhancer binding RNA polymerase II transcription factor activity Inferred from sequence or structural similarity. Source: BHF-UCL
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 419	419	POU domain, class 4, transcription factor 1		PRO_0000100736
Regions
	Domain	261 – 338	78	POU-specific
	DNA binding	356 – 415	60	Homeobox
	Motif	57 – 66	10	POU-IV box
	Compositional bias	100 – 108	9	Poly-His
	Compositional bias	130 – 186	57	Gly-rich
	Compositional bias	204 – 257	54	Ala-rich
Natural variations
	Natural variant	163	1	Missing.		VAR_046449
Experimental info
	Sequence conflict	91 – 92	2	TS → H in CAA45907. Ref.5
	Sequence conflict	99	1	A → R in AAA57161. Ref.2
	Sequence conflict	129	1	A → AGAG in AAA57161. Ref.2
	Sequence conflict	146 – 147	2	GP → AA in CAA45907. Ref.5
	Sequence conflict	152 – 153	2	GP → PR in CAA45907. Ref.5
	Sequence conflict	159	1	P → PG in AAA65605. Ref.1
	Sequence conflict	159	1	P → PG in AAA57161. Ref.2
	Sequence conflict	159	1	P → PG in CAA45907. Ref.5
	Sequence conflict	170 – 171	2	GP → AA in CAA45907. Ref.5
	Sequence conflict	185	1	G → A in CAA45907. Ref.5
	Sequence conflict	236	1	A → S in AAA65605. Ref.1
	Sequence conflict	245	1	Missing in CAA45907. Ref.5
	Sequence conflict	252	1	A → R in CAA45907. Ref.5
	Sequence conflict	272 – 274	3	AER → GS in CAA45907. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Q01851 [UniParc]. Last modified May 31, 2011. Version 4. Checksum: 6EDC2A2082F95F23	FASTA	419	42,697
	10 20 30 40 50 60 MMSMNSKQPH FAMHPTLPEH KYPSLHSSSE AIRRACLPTP PLQSNLFASL DETLLARAEA 70 80 90 100 110 120 LAAVDIAVSQ GKSHPFKPDA TYHTMNSVPC TSTSTVPLAH HHHHHHHHQA LEPGDLLDHI 130 140 150 160 170 180 SSPSLALMAG AGGAGAAAGG GGAHDGPGGG GGPGGGGGPG GGPGGGGGGG PGGGGGGPGG 190 200 210 220 230 240 GLLGGSAHPH PHMHSLGHLS HPAAAAAMNM PSGLPHPGLV AAAAHHGAAA AAAAAAAGQV 250 260 270 280 290 300 AAASAAAAVV GAAGLASICD SDTDPRELEA FAERFKQRRI KLGVTQADVG SALANLKIPG 310 320 330 340 350 360 VGSLSQSTIC RFESLTLSHN NMIALKPILQ AWLEEAEGAQ REKMNKPELF NGGEKKRKRT 370 380 390 400 410 SIAAPEKRSL EAYFAVQPRP SSEKIAAIAE KLDLKKNVVR VWFCNQRQKQ KRMKFSATY

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Differential expression of four members of the POU family of proteins in activated and phorbol 12-myristate 13-acetate-treated Jurkat T cells." Bhargava A.K., Li Z., Weissman S.M. Proc. Natl. Acad. Sci. U.S.A. 90:10260-10264(1993) [PubMed: 8234287] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"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: Retina.
[3]	"The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T. Nature 428:522-528(2004) [PubMed: 15057823] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLY-163 DEL.
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLY-163 DEL.
[5]	"A novel POU homeodomain gene specifically expressed in cells of the developing mammalian nervous system." Collum R.G., Fisher P.E., Datta M., Mellis S., Thiele C., Huebner K., Croce C.M., Israel M.A., Theil T., Moroy T., DePinho R.A., Alt F.W. Nucleic Acids Res. 20:4919-4925(1992) [PubMed: 1357630] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 42-419. Tissue: Placenta.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	L20433 mRNA. Translation: AAA65605.1. U10063, U10062 Genomic DNA. Translation: AAA57161.1. AL445209 Genomic DNA. Translation: CAI15184.1. CH471093 Genomic DNA. Translation: EAW80585.1. X64624 mRNA. Translation: CAA45907.1. Frameshift.
IPI	IPI00009864.
PIR	I59234. S78452.
RefSeq	NP_006228.3. NM_006237.3.
UniGene	Hs.654522.
3D structure databases
ProteinModelPortal	Q01851.
SMR	Q01851. Positions 265-414.
ModBase	Search...
Protein-protein interaction databases
STRING	Q01851.
PTM databases
PhosphoSite	Q01851.
Polymorphism databases
DMDM	206729911.
Proteomic databases
PRIDE	Q01851.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000377208; ENSP00000366413; ENSG00000152192.
GeneID	5457.
KEGG	hsa:5457.
Organism-specific databases
CTD	5457.
GeneCards	GC13M079173.
HGNC	HGNC:9218. POU4F1.
MIM	601632. gene.
neXtProt	NX_Q01851.
PharmGKB	PA33542.
GenAtlas	Search...
Phylogenomic databases
eggNOG	maNOG18956.
GeneTree	ENSGT00580000081294.
HOGENOM	HBG714425.
HOVERGEN	HBG031829.
InParanoid	Q01851.
OrthoDB	EOG4PK29D.
PhylomeDB	Q01851.
Gene expression databases
ArrayExpress	Q01851.
Bgee	Q01851.
CleanEx	HS_POU4F1.
Genevestigator	Q01851.
GermOnline	ENSG00000152192. 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	21121.
SOURCE	Search...

Entry information

Entry name

PO4F1_HUMAN

Accession

Primary (citable) accession number: Q01851
Secondary accession number(s): Q14986, Q15318, Q5T227

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 1, 1993
Last sequence update:	May 31, 2011
Last modified:	January 25, 2012
This is version 119 of the entry and version 4 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.