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Q01851

- PO4F1_HUMAN

UniProt

Q01851 - PO4F1_HUMAN

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Protein

POU domain, class 4, transcription factor 1

Gene

POU4F1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli

Functioni

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.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi356 – 41560HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  2. RNA polymerase II distal enhancer sequence-specific DNA binding Source: BHF-UCL
  3. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: BHF-UCL
  4. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl

GO - Biological processi

  1. axonogenesis Source: BHF-UCL
  2. cell migration in hindbrain Source: Ensembl
  3. central nervous system neuron differentiation Source: Ensembl
  4. habenula development Source: Ensembl
  5. innervation Source: BHF-UCL
  6. mesoderm development Source: Ensembl
  7. negative regulation of neuron apoptotic process Source: BHF-UCL
  8. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  9. neuron fate specification Source: BHF-UCL
  10. peripheral nervous system neuron development Source: BHF-UCL
  11. positive regulation of apoptotic process Source: Ensembl
  12. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  13. proprioception involved in equilibrioception Source: Ensembl
  14. regulation of neurogenesis Source: Ensembl
  15. sensory system development Source: BHF-UCL
  16. suckling behavior Source: Ensembl
  17. synapse assembly Source: ProtInc
  18. transcription from RNA polymerase II promoter Source: GOC
  19. trigeminal nerve development Source: BHF-UCL
  20. ventricular compact myocardium morphogenesis Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
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 namesi
Name:POU4F1
Synonyms:BRN3A, RDC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 13

Organism-specific databases

HGNCiHGNC:9218. POU4F1.

Subcellular locationi

GO - Cellular componenti

  1. neuron projection Source: Ensembl
  2. nuclear chromatin Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA33542.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 419419POU domain, class 4, transcription factor 1PRO_0000100736Add
BLAST

Proteomic databases

PaxDbiQ01851.
PRIDEiQ01851.

PTM databases

PhosphoSiteiQ01851.

Expressioni

Tissue specificityi

Brain. Seems to be specific to the retina. Present in the developing brain, spinal cord and eye.

Developmental stagei

Expression peaks early in embryogenesis (day 13.5) and is undetectable 14 days after birth.

Gene expression databases

BgeeiQ01851.
CleanExiHS_POU4F1.
GenevestigatoriQ01851.

Interactioni

Protein-protein interaction databases

BioGridi111453. 3 interactions.
STRINGi9606.ENSP00000366413.

Structurei

3D structure databases

ProteinModelPortaliQ01851.
SMRiQ01851. Positions 264-414.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini261 – 33878POU-specificPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi57 – 6610POU-IV box

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi100 – 1089Poly-His
Compositional biasi130 – 18657Gly-richAdd
BLAST
Compositional biasi204 – 25754Ala-richAdd
BLAST

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation
Contains 1 POU-specific domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG289030.
GeneTreeiENSGT00760000118935.
HOGENOMiHOG000116305.
HOVERGENiHBG031829.
InParanoidiQ01851.
KOiK09366.
OMAiHLSHQAM.
OrthoDBiEOG7RV9G7.
PhylomeDBiQ01851.
TreeFamiTF316413.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
1.10.260.40. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
IPR013847. POU.
IPR000327. POU_specific.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF00157. Pou. 1 hit.
[Graphical view]
PRINTSiPR00028. POUDOMAIN.
SMARTiSM00389. HOX. 1 hit.
SM00352. POU. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 1 hit.
PROSITEiPS00027. 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]

Sequencei

Sequence statusi: Complete.

Q01851-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MMSMNSKQPH FAMHPTLPEH KYPSLHSSSE AIRRACLPTP PLQSNLFASL
60 70 80 90 100
DETLLARAEA LAAVDIAVSQ GKSHPFKPDA TYHTMNSVPC TSTSTVPLAH
110 120 130 140 150
HHHHHHHHQA LEPGDLLDHI SSPSLALMAG AGGAGAAAGG GGAHDGPGGG
160 170 180 190 200
GGPGGGGGPG GGPGGGGGGG PGGGGGGPGG GLLGGSAHPH PHMHSLGHLS
210 220 230 240 250
HPAAAAAMNM PSGLPHPGLV AAAAHHGAAA AAAAAAAGQV AAASAAAAVV
260 270 280 290 300
GAAGLASICD SDTDPRELEA FAERFKQRRI KLGVTQADVG SALANLKIPG
310 320 330 340 350
VGSLSQSTIC RFESLTLSHN NMIALKPILQ AWLEEAEGAQ REKMNKPELF
360 370 380 390 400
NGGEKKRKRT SIAAPEKRSL EAYFAVQPRP SSEKIAAIAE KLDLKKNVVR
410
VWFCNQRQKQ KRMKFSATY
Length:419
Mass (Da):42,697
Last modified:May 31, 2011 - v4
Checksum:i6EDC2A2082F95F23
GO

Sequence cautioni

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. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti91 – 922TS → H in CAA45907. (PubMed:1357630)Curated
Sequence conflicti99 – 991A → R in AAA57161. (PubMed:7623109)Curated
Sequence conflicti129 – 1291A → AGAG in AAA57161. (PubMed:7623109)Curated
Sequence conflicti146 – 1472GP → AA in CAA45907. (PubMed:1357630)Curated
Sequence conflicti152 – 1532GP → PR in CAA45907. (PubMed:1357630)Curated
Sequence conflicti159 – 1591P → PG in AAA65605. (PubMed:8234287)Curated
Sequence conflicti159 – 1591P → PG in AAA57161. (PubMed:7623109)Curated
Sequence conflicti159 – 1591P → PG in CAA45907. (PubMed:1357630)Curated
Sequence conflicti170 – 1712GP → AA in CAA45907. (PubMed:1357630)Curated
Sequence conflicti185 – 1851G → A in CAA45907. (PubMed:1357630)Curated
Sequence conflicti236 – 2361A → S in AAA65605. (PubMed:8234287)Curated
Sequence conflicti245 – 2451Missing in CAA45907. (PubMed:1357630)Curated
Sequence conflicti252 – 2521A → R in CAA45907. (PubMed:1357630)Curated
Sequence conflicti272 – 2743AER → GS in CAA45907. (PubMed:1357630)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti163 – 1631Missing.
VAR_046449

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS31996.1.
PIRiI59234.
S78452.
RefSeqiNP_006228.3. NM_006237.3.
UniGeneiHs.654522.

Genome annotation databases

EnsembliENST00000377208; ENSP00000366413; ENSG00000152192.
GeneIDi5457.
KEGGihsa:5457.
UCSCiuc001vkv.3. human.

Polymorphism databases

DMDMi334302933.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSi CCDS31996.1.
PIRi I59234.
S78452.
RefSeqi NP_006228.3. NM_006237.3.
UniGenei Hs.654522.

3D structure databases

ProteinModelPortali Q01851.
SMRi Q01851. Positions 264-414.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111453. 3 interactions.
STRINGi 9606.ENSP00000366413.

PTM databases

PhosphoSitei Q01851.

Polymorphism databases

DMDMi 334302933.

Proteomic databases

PaxDbi Q01851.
PRIDEi Q01851.

Protocols and materials databases

DNASUi 5457.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000377208 ; ENSP00000366413 ; ENSG00000152192 .
GeneIDi 5457.
KEGGi hsa:5457.
UCSCi uc001vkv.3. human.

Organism-specific databases

CTDi 5457.
GeneCardsi GC13M079173.
HGNCi HGNC:9218. POU4F1.
MIMi 601632. gene.
neXtProti NX_Q01851.
PharmGKBi PA33542.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG289030.
GeneTreei ENSGT00760000118935.
HOGENOMi HOG000116305.
HOVERGENi HBG031829.
InParanoidi Q01851.
KOi K09366.
OMAi HLSHQAM.
OrthoDBi EOG7RV9G7.
PhylomeDBi Q01851.
TreeFami TF316413.

Miscellaneous databases

GeneWikii POU4F1.
GenomeRNAii 5457.
NextBioi 21121.
PROi Q01851.
SOURCEi Search...

Gene expression databases

Bgeei Q01851.
CleanExi HS_POU4F1.
Genevestigatori Q01851.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
1.10.260.40. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
IPR013847. POU.
IPR000327. POU_specific.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
PF00157. Pou. 1 hit.
[Graphical view ]
PRINTSi PR00028. POUDOMAIN.
SMARTi SM00389. HOX. 1 hit.
SM00352. POU. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 1 hit.
PROSITEi 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 ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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.

Entry informationi

Entry nameiPO4F1_HUMAN
AccessioniPrimary (citable) accession number: Q01851
Secondary accession number(s): Q14986, Q15318, Q5T227
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: May 31, 2011
Last modified: October 29, 2014
This is version 142 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3