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Q01851 (PO4F1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 140. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | 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 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length419 AA.
Sequence statusComplete.
Protein existenceEvidence 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 processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   DomainHomeobox
   LigandDNA-binding
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processaxonogenesis

Traceable author statement PubMed 17239249. Source: BHF-UCL

cell migration in hindbrain

Inferred from electronic annotation. Source: Ensembl

central nervous system neuron differentiation

Inferred from electronic annotation. Source: Ensembl

habenula development

Inferred from electronic annotation. Source: Ensembl

innervation

Traceable author statement PubMed 17239249. Source: BHF-UCL

mesoderm development

Inferred from electronic annotation. Source: Ensembl

negative regulation of neuron apoptotic process

Traceable author statement PubMed 17239249. 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 apoptotic process

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription from RNA polymerase II promoter

Inferred from sequence or structural similarity. Source: BHF-UCL

proprioception involved in equilibrioception

Inferred from electronic annotation. Source: Ensembl

regulation of neurogenesis

Inferred from electronic annotation. Source: Ensembl

sensory system development

Inferred from sequence or structural similarity. Source: BHF-UCL

suckling behavior

Inferred from electronic annotation. Source: Ensembl

synapse assembly

Traceable author statement PubMed 8995448. Source: ProtInc

transcription from RNA polymerase II promoter

Inferred from sequence or structural similarity. Source: GOC

trigeminal nerve development

Inferred from sequence or structural similarity. Source: BHF-UCL

ventricular compact myocardium morphogenesis

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentneuron projection

Inferred from electronic annotation. Source: Ensembl

nuclear chromatin

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionRNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription

Inferred from electronic annotation. Source: Ensembl

RNA polymerase II distal enhancer sequence-specific DNA binding

Inferred from sequence or structural similarity. Source: BHF-UCL

RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity

Inferred from sequence or structural similarity. Source: BHF-UCL

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 419419POU domain, class 4, transcription factor 1
PRO_0000100736

Regions

Domain261 – 33878POU-specific
DNA binding356 – 41560Homeobox
Motif57 – 6610POU-IV box
Compositional bias100 – 1089Poly-His
Compositional bias130 – 18657Gly-rich
Compositional bias204 – 25754Ala-rich

Natural variations

Natural variant1631Missing.
VAR_046449

Experimental info

Sequence conflict91 – 922TS → H in CAA45907. Ref.5
Sequence conflict991A → R in AAA57161. Ref.2
Sequence conflict1291A → AGAG in AAA57161. Ref.2
Sequence conflict146 – 1472GP → AA in CAA45907. Ref.5
Sequence conflict152 – 1532GP → PR in CAA45907. Ref.5
Sequence conflict1591P → PG in AAA65605. Ref.1
Sequence conflict1591P → PG in AAA57161. Ref.2
Sequence conflict1591P → PG in CAA45907. Ref.5
Sequence conflict170 – 1712GP → AA in CAA45907. Ref.5
Sequence conflict1851G → A in CAA45907. Ref.5
Sequence conflict2361A → S in AAA65605. Ref.1
Sequence conflict2451Missing in CAA45907. Ref.5
Sequence conflict2521A → R in CAA45907. Ref.5
Sequence conflict272 – 2743AER → GS in CAA45907. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Q01851 [UniParc].

Last modified May 31, 2011. Version 4.
Checksum: 6EDC2A2082F95F23

FASTA41942,697
        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 

« Hide

References

« Hide '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] [Europe PMC] [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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 42-419.
Tissue: Placenta.
+Additional computationally mapped references.

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.
CCDSCCDS31996.1.
PIRI59234.
S78452.
RefSeqNP_006228.3. NM_006237.3.
UniGeneHs.654522.

3D structure databases

ProteinModelPortalQ01851.
SMRQ01851. Positions 264-414.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111453. 3 interactions.
STRING9606.ENSP00000366413.

PTM databases

PhosphoSiteQ01851.

Polymorphism databases

DMDM334302933.

Proteomic databases

PaxDbQ01851.
PRIDEQ01851.

Protocols and materials databases

DNASU5457.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000377208; ENSP00000366413; ENSG00000152192.
GeneID5457.
KEGGhsa:5457.
UCSCuc001vkv.3. human.

Organism-specific databases

CTD5457.
GeneCardsGC13M079173.
HGNCHGNC:9218. POU4F1.
MIM601632. gene.
neXtProtNX_Q01851.
PharmGKBPA33542.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG289030.
HOGENOMHOG000116305.
HOVERGENHBG031829.
InParanoidQ01851.
KOK09366.
OMAHLSHQAM.
OrthoDBEOG7RV9G7.
PhylomeDBQ01851.
TreeFamTF316413.

Gene expression databases

BgeeQ01851.
CleanExHS_POU4F1.
GenevestigatorQ01851.

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

GeneWikiPOU4F1.
GenomeRNAi5457.
NextBio21121.
PROQ01851.
SOURCESearch...

Entry information

Entry namePO4F1_HUMAN
AccessionPrimary (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: July 9, 2014
This is version 140 of the entry and version 4 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 entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM