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Q01851

- PO4F1_HUMAN

UniProt

Q01851 - PO4F1_HUMAN

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
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    • History
      Entry version 141 (01 Oct 2014)
      Sequence version 4 (31 May 2011)
      Previous versions | rss
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    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

    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

    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

    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.
    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

    MMSMNSKQPH FAMHPTLPEH KYPSLHSSSE AIRRACLPTP PLQSNLFASL    50
    DETLLARAEA LAAVDIAVSQ GKSHPFKPDA TYHTMNSVPC TSTSTVPLAH 100
    HHHHHHHHQA LEPGDLLDHI SSPSLALMAG AGGAGAAAGG GGAHDGPGGG 150
    GGPGGGGGPG GGPGGGGGGG PGGGGGGPGG GLLGGSAHPH PHMHSLGHLS 200
    HPAAAAAMNM PSGLPHPGLV AAAAHHGAAA AAAAAAAGQV AAASAAAAVV 250
    GAAGLASICD SDTDPRELEA FAERFKQRRI KLGVTQADVG SALANLKIPG 300
    VGSLSQSTIC RFESLTLSHN NMIALKPILQ AWLEEAEGAQ REKMNKPELF 350
    NGGEKKRKRT SIAAPEKRSL EAYFAVQPRP SSEKIAAIAE KLDLKKNVVR 400
    VWFCNQRQKQ KRMKFSATY 419
    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.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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.
    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

    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 1, 2014
    This is version 141 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