Reviewed, UniProtKB/Swiss-Prot Q01851 (PO4F1_HUMAN)

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=Brn-3A
    Oct-T1
    Homeobox/POU domain protein RDC-1

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	420 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
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.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
Gene Ontology (GO)
Biological process	axonogenesis Traceable author statement. Source: ProtInc regulation of transcription from RNA polymerase II promoter Traceable author statement. Source: ProtInc synaptogenesis Traceable author statement. Source: ProtInc transcription Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro 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 – 420	420	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 Ref.3 Ref.4		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	133 – 137	5	GAGAA → ARRG in CAA45907. Ref.5
	Sequence conflict	135	1	G → GGAG 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	171 – 172	2	GP → AA in CAA45907. Ref.5
	Sequence conflict	186	1	G → A in CAA45907. Ref.5
	Sequence conflict	237	1	A → S in AAA65605. Ref.1
	Sequence conflict	249	1	Missing in CAA45907. Ref.5
	Sequence conflict	253	1	A → R in CAA45907. Ref.5
	Sequence conflict	273 – 275	3	AER → GS in CAA45907. Ref.5
	Sequence conflict	340 – 342	3	AQR → PS in CAA45907. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Q01851-1 [UniParc]. Last modified September 23, 2008. Version 3. Checksum: F5738F483BC93196	FASTA	420	42,754
	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 GGGPGGGGGG GPGGGGGGPG 190 200 210 220 230 240 GGLLGGSAHP HPHMHSLGHL SHPAAAAAMN MPSGLPHPGL VAAAAHHGAA AAAAAAAAGQ 250 260 270 280 290 300 VAAASAAAAV VGAAGLASIC DSDTDPRELE AFAERFKQRR IKLGVTQADV GSALANLKIP 310 320 330 340 350 360 GVGSLSQSTI CRFESLTLSH NNMIALKPIL QAWLEEAEGA QREKMNKPEL FNGGEKKRKR 370 380 390 400 410 420 TSIAAPEKRS LEAYFAVQPR PSSEKIAAIA EKLDLKKNVV RVWFCNQRQK QKRMKFSATY

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 85-420. Tissue: Placenta.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBLGenBankDDBJ	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.
IPI	IPI00009864.
PIR	I59234. S78452.
RefSeq	NP_006228.3.
UniGene	Hs.654522
3D structure databases
HSSP	HSSP built from PDB template 1CQT based on UniProtKB P14859.
ModBase	Search...
PTM databases
PhosphoSite	Q01851.
Genome annotation databases
Ensembl	ENSG00000152192. Homo sapiens. [Contig view]
GeneID	5457.
KEGG	hsa:5457.
Organism-specific databases
GeneCards	GC13M078071.
HGNC	HGNC:9218. POU4F1.
MIM	601632. gene.
PharmGKB	PA33542.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q01851.
HOVERGEN	Q01851.
Gene expression databases
ArrayExpress	Q01851.
Bgee	Q01851.
CleanEx	HS_POU4F1.
GermOnline	ENSG00000152192. Homo sapiens.
Family and domain databases
InterPro	IPR001356. Homeobox. IPR017970. Homeobox_CS. IPR012287. Homeodomain-rel. IPR013847. POU. IPR000327. POU_specific. [Graphical view]
Gene3D	G3DSA:1.10.10.60. Homeodomain-rel. 1 hit.
Pfam	PF00046. Homeobox. 1 hit. PF00157. Pou. 1 hit. [Graphical view]
PRINTS	PR00028. POUDOMAIN.
ProDom	PD000010. Homeobox. 1 hit. PD000583. POU. 1 hit. [Graphical view] [Entries sharing at least one domain]
SMART	SM00389. HOX. 1 hit. SM00352. POU. 1 hit. [Graphical view]
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 Resources
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:	September 23, 2008
Last modified:	June 16, 2009
This is version 93 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)