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P78424

- PO6F2_HUMAN

UniProt

P78424 - PO6F2_HUMAN

Protein

POU domain, class 6, transcription factor 2

Gene

POU6F2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 134 (01 Oct 2014)
      Sequence version 3 (05 Apr 2011)
      Previous versions | rss
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    Functioni

    Probable transcription factor likely to be involved in early steps in the differentiation of amacrine and ganglion cells. Recognizes and binds to the DNA sequence 5'-ATGCAAAT-3'. Isoform 1 does not bind DNA.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi607 – 66660HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. sequence-specific DNA binding Source: InterPro
    2. sequence-specific DNA binding transcription factor activity Source: UniProtKB

    GO - Biological processi

    1. central nervous system development Source: ProtInc
    2. ganglion mother cell fate determination Source: ProtInc
    3. regulation of transcription, DNA-templated Source: UniProtKB
    4. transcription from RNA polymerase II promoter Source: ProtInc
    5. visual perception Source: ProtInc

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    POU domain, class 6, transcription factor 2
    Alternative name(s):
    Retina-derived POU domain factor 1
    Short name:
    RPF-1
    Gene namesi
    Name:POU6F2
    Synonyms:RPF1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:21694. POU6F2.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Hereditary susceptibility to Wilms tumor 5 (WT5) [MIM:601583]: Pediatric malignancy of kidney and one of the most common solid cancers in childhood.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti192 – 1921Q → H in WT5. 1 Publication
    VAR_022419

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi601583. phenotype.
    Orphaneti654. Nephroblastoma.
    PharmGKBiPA134969420.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 691691POU domain, class 6, transcription factor 2PRO_0000100762Add
    BLAST

    Proteomic databases

    PaxDbiP78424.
    PRIDEiP78424.

    PTM databases

    PhosphoSiteiP78424.

    Expressioni

    Tissue specificityi

    Expressed only within the CNS, where its expression is restricted to the medical habenulla, to a dispersed population of neurons in the dorsal hypothalamus, and to subsets of ganglion and amacrine cells in the retina.1 Publication

    Gene expression databases

    ArrayExpressiP78424.
    BgeeiP78424.
    CleanExiHS_POU6F2.
    GenevestigatoriP78424.

    Organism-specific databases

    HPAiHPA008699.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000395926.

    Structurei

    3D structure databases

    ProteinModelPortaliP78424.
    SMRiP78424. Positions 480-664.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini476 – 586111POU-specificPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi167 – 446280Gln-richAdd
    BLAST
    Compositional biasi197 – 29397Pro-richAdd
    BLAST
    Compositional biasi435 – 46127Ser-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

    eggNOGiNOG241882.
    HOVERGENiHBG008230.
    InParanoidiP78424.
    KOiK09368.
    OMAiFEARGNT.
    OrthoDBiEOG7353Z3.
    PhylomeDBiP78424.
    TreeFamiTF350705.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    1.10.260.40. 2 hits.
    InterProiIPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR010982. Lambda_DNA-bd_dom.
    IPR013847. POU.
    IPR000327. POU_specific.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    PF00157. Pou. 2 hits.
    [Graphical view]
    PRINTSiPR00028. POUDOMAIN.
    SMARTiSM00389. HOX. 1 hit.
    SM00352. POU. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    SSF47413. SSF47413. 2 hits.
    PROSITEiPS50071. HOMEOBOX_2. 1 hit.
    PS00035. POU_1. 1 hit.
    PS00465. POU_2. 1 hit.
    PS51179. POU_3. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P78424-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MSALLQDPMI AGQVSKPLLS VRSEMNAELR GEDKAATSDS ELNEPLLAPV    50
    ESNDSEDTPS KLFGARGNPA LSDPGTPDQH QASQTHPPFP VGPQPLLTAQ 100
    QLASAVAGVM PGGPPALNQP ILIPFNMAGQ LGGQQGLVLT LPTANLTNIQ 150
    GLVAAAAAGG IMTLPLQNLQ ATSSLNSQLQ QLQLQLQQQQ QQQQQQPPPS 200
    TNQHPQPAPQ APSQSQQQPL QPTPPQQPPP ASQQPPAPTS QLQQAPQPQQ 250
    HQPHSHSQNQ NQPSPTQQSS SPPQKPSQSP GHGLPSPLTP PNPLQLVNNP 300
    LASQAAAAAA AMSSIASSQA FGNALSSLQG VTGQLVTNAQ GQIIGTIPLM 350
    PNPGPSSQAA SGTQGLQVQP ITPQLLTNAQ GQIIATVIGN QILPVINTQG 400
    ITLSPIKPGQ QLHQPSQTSV GQAASQGNLL HLAHSQASMS QSPVRQASSS 450
    SSSSSSSSAL SVGQLVSNPQ TAAGEVDGVN LEEIREFAKA FKIRRLSLGL 500
    TQTQVGQALS ATEGPAYSQS AICRHTILRS HFFLPQEAQE NTIASSLTAK 550
    LNPGLLYPAR FEKLDITPKS AQKIKPVLER WMAEAEARHR AGMQNLTEFI 600
    GSEPSKKRKR RTSFTPQALE ILNAHFEKNT HPSGQEMTEI AEKLNYDREV 650
    VRVWFCNKRQ ALKNTIKRLK QHEPATAVPL EPLTDSLEEN S 691

    Note: Major isoform.

    Length:691
    Mass (Da):73,265
    Last modified:April 5, 2011 - v3
    Checksum:i3460C858ECBB5535
    GO
    Isoform 2 (identifier: P78424-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         524-559: Missing.

    Show »
    Length:655
    Mass (Da):69,248
    Checksum:iAB9FFB1A958C3978
    GO

    Sequence cautioni

    The sequence AAB49728.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAS07475.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAB49727.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence EAL23992.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti196 – 1961Q → QQ in AAB49727. (PubMed:8601806)Curated
    Sequence conflicti196 – 1961Q → QQ in AAB49728. (PubMed:8601806)Curated
    Sequence conflicti258 – 2581Q → H in AAB49727. (PubMed:8601806)Curated
    Sequence conflicti258 – 2581Q → H in AAB49728. (PubMed:8601806)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti192 – 1921Q → H in WT5. 1 Publication
    VAR_022419
    Natural varianti199 – 1991P → L.
    Corresponds to variant rs2074936 [ dbSNP | Ensembl ].
    VAR_028410
    Natural varianti500 – 5001L → M.
    Corresponds to variant rs4992268 [ dbSNP | Ensembl ].
    VAR_028411
    Natural varianti639 – 6391E → K.
    Corresponds to variant rs7804851 [ dbSNP | Ensembl ].
    VAR_028412

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei524 – 55936Missing in isoform 2. 1 PublicationVSP_002336Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U91934 Genomic DNA. Translation: AAB49727.1. Sequence problems.
    U91935 mRNA. Translation: AAB49728.1. Different initiation.
    AC005483 Genomic DNA. Translation: AAC83404.2.
    AC073345 Genomic DNA. Translation: AAS07475.1. Different initiation.
    AC092174 Genomic DNA. Translation: AAP21873.1.
    AC011292 Genomic DNA. No translation available.
    CH236951 Genomic DNA. Translation: EAL23992.1. Sequence problems.
    CCDSiCCDS34620.2. [P78424-1]
    CCDS55103.1. [P78424-2]
    RefSeqiNP_001159490.1. NM_001166018.1. [P78424-2]
    NP_009183.3. NM_007252.3. [P78424-1]
    UniGeneiHs.137106.

    Genome annotation databases

    EnsembliENST00000403058; ENSP00000384004; ENSG00000106536. [P78424-1]
    ENST00000518318; ENSP00000430514; ENSG00000106536. [P78424-2]
    GeneIDi11281.
    KEGGihsa:11281.
    UCSCiuc003thb.2. human. [P78424-1]
    uc022acb.1. human. [P78424-2]

    Polymorphism databases

    DMDMi327478564.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U91934 Genomic DNA. Translation: AAB49727.1 . Sequence problems.
    U91935 mRNA. Translation: AAB49728.1 . Different initiation.
    AC005483 Genomic DNA. Translation: AAC83404.2 .
    AC073345 Genomic DNA. Translation: AAS07475.1 . Different initiation.
    AC092174 Genomic DNA. Translation: AAP21873.1 .
    AC011292 Genomic DNA. No translation available.
    CH236951 Genomic DNA. Translation: EAL23992.1 . Sequence problems.
    CCDSi CCDS34620.2. [P78424-1 ]
    CCDS55103.1. [P78424-2 ]
    RefSeqi NP_001159490.1. NM_001166018.1. [P78424-2 ]
    NP_009183.3. NM_007252.3. [P78424-1 ]
    UniGenei Hs.137106.

    3D structure databases

    ProteinModelPortali P78424.
    SMRi P78424. Positions 480-664.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000395926.

    PTM databases

    PhosphoSitei P78424.

    Polymorphism databases

    DMDMi 327478564.

    Proteomic databases

    PaxDbi P78424.
    PRIDEi P78424.

    Protocols and materials databases

    DNASUi 11281.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000403058 ; ENSP00000384004 ; ENSG00000106536 . [P78424-1 ]
    ENST00000518318 ; ENSP00000430514 ; ENSG00000106536 . [P78424-2 ]
    GeneIDi 11281.
    KEGGi hsa:11281.
    UCSCi uc003thb.2. human. [P78424-1 ]
    uc022acb.1. human. [P78424-2 ]

    Organism-specific databases

    CTDi 11281.
    GeneCardsi GC07P039012.
    HGNCi HGNC:21694. POU6F2.
    HPAi HPA008699.
    MIMi 601583. phenotype.
    609062. gene.
    neXtProti NX_P78424.
    Orphaneti 654. Nephroblastoma.
    PharmGKBi PA134969420.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG241882.
    HOVERGENi HBG008230.
    InParanoidi P78424.
    KOi K09368.
    OMAi FEARGNT.
    OrthoDBi EOG7353Z3.
    PhylomeDBi P78424.
    TreeFami TF350705.

    Miscellaneous databases

    ChiTaRSi POU6F2. human.
    GenomeRNAii 11281.
    NextBioi 42945.
    PROi P78424.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P78424.
    Bgeei P78424.
    CleanExi HS_POU6F2.
    Genevestigatori P78424.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    1.10.260.40. 2 hits.
    InterProi 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. 2 hits.
    [Graphical view ]
    PRINTSi PR00028. POUDOMAIN.
    SMARTi SM00389. HOX. 1 hit.
    SM00352. POU. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    SSF47413. SSF47413. 2 hits.
    PROSITEi 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. "Retina-derived POU-domain factor-1: a complex POU-domain gene implicated in the development of retinal ganglion and amacrine cells."
      Zhou H., Yoshioka T., Nathans J.
      J. Neurosci. 16:2261-2274(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY.
      Tissue: Retina.
    2. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "Human chromosome 7: DNA sequence and biology."
      Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
      , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
      Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "Refinement within single yeast artificial chromosome clones of a minimal region commonly deleted on the short arm of chromosome 7 in Wilms tumours."
      Perotti D., Testi M.A., Mondini P., Pilotti S., Green E.D., Pession A., Sozzi G., Pierotti M.A., Fossati-Bellani F., Radice P.
      Genes Chromosomes Cancer 31:42-47(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT WT5 HIS-192.

    Entry informationi

    Entry nameiPO6F2_HUMAN
    AccessioniPrimary (citable) accession number: P78424
    Secondary accession number(s): A4D1W2
    , C4AMB9, P78425, Q75ME8, Q86UM6, Q9UDS7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 2003
    Last sequence update: April 5, 2011
    Last modified: October 1, 2014
    This is version 134 of the entry and version 3 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 7
      Human chromosome 7: 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. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3