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P55347

- PKNX1_HUMAN

UniProt

P55347 - PKNX1_HUMAN

Protein

Homeobox protein PKNOX1

Gene

PKNOX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 121 (01 Oct 2014)
      Sequence version 3 (19 Sep 2006)
      Previous versions | rss
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    Functioni

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi259 – 32163Homeobox; TALE-typePROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: Ensembl
    2. sequence-specific DNA binding Source: Ensembl
    3. sequence-specific DNA binding transcription factor activity Source: ProtInc

    GO - Biological processi

    1. angiogenesis Source: Ensembl
    2. camera-type eye development Source: Ensembl
    3. erythrocyte differentiation Source: Ensembl
    4. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    5. T cell differentiation Source: Ensembl
    6. transcription from RNA polymerase II promoter Source: ProtInc

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein PKNOX1
    Alternative name(s):
    Homeobox protein PREP-1
    PBX/knotted homeobox 1
    Gene namesi
    Name:PKNOX1
    Synonyms:PREP1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 21

    Organism-specific databases

    HGNCiHGNC:9022. PKNOX1.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. cytoplasm Source: Ensembl
    2. nucleus Source: UniProtKB-SubCell
    3. transcription factor complex Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA33354.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 436436Homeobox protein PKNOX1PRO_0000049248Add
    BLAST

    Proteomic databases

    MaxQBiP55347.
    PaxDbiP55347.
    PRIDEiP55347.

    2D gel databases

    SWISS-2DPAGEP55347.

    PTM databases

    PhosphoSiteiP55347.

    Expressioni

    Tissue specificityi

    Ubiquitous. Isoform 2 is expressed in all examined tissues except in bone marrow.2 Publications

    Gene expression databases

    ArrayExpressiP55347.
    BgeeiP55347.
    CleanExiHS_PKNOX1.
    GenevestigatoriP55347.

    Organism-specific databases

    HPAiCAB004285.

    Interactioni

    Protein-protein interaction databases

    BioGridi111333. 8 interactions.
    IntActiP55347. 10 interactions.
    MINTiMINT-1532511.
    STRINGi9606.ENSP00000291547.

    Structurei

    Secondary structure

    1
    436
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi268 – 28013
    Turni281 – 2833
    Helixi289 – 29911
    Helixi303 – 31917

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1X2NNMR-A260-319[»]
    ProteinModelPortaliP55347.
    SMRiP55347. Positions 258-319.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP55347.

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the TALE/MEIS homeobox family.Curated
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG277861.
    HOGENOMiHOG000253922.
    HOVERGENiHBG055193.
    InParanoidiP55347.
    OMAiCSEPDVE.
    OrthoDBiEOG71CFNK.
    PhylomeDBiP55347.
    TreeFamiTF318093.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR001356. Homeobox_dom.
    IPR008422. Homeobox_KN_domain.
    IPR009057. Homeodomain-like.
    [Graphical view]
    PfamiPF05920. Homeobox_KN. 1 hit.
    [Graphical view]
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P55347-1) [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

    MMATQTLSID SYQDGQQMQV VTELKTEQDP NCSEPDAEGV SPPPVESQTP    50
    MDVDKQAIYR HPLFPLLALL FEKCEQSTQG SEGTTSASFD VDIENFVRKQ 100
    EKEGKPFFCE DPETDNLMVK AIQVLRIHLL ELEKVNELCK DFCSRYIACL 150
    KTKMNSETLL SGEPGSPYSP VQSQQIQSAI TGTISPQGIV VPASALQQGN 200
    VAMATVAGGT VYQPVTVVTP QGQVVTQTLS PGTIRIQNSQ LQLQLNQDLS 250
    ILHQDDGSSK NKRGVLPKHA TNVMRSWLFQ HIGHPYPTED EKKQIAAQTN 300
    LTLLQVNNWF INARRRILQP MLDSSCSETP KTKKKTAQNR PVQRFWPDSI 350
    ASGVAQPPPS ELTMSEGAVV TITTPVNMNV DSLQSLSSDG ATLAVQQVMM 400
    AGQSEDESVD STEEDAGALA PAHISGLVLE NSDSLQ 436
    Length:436
    Mass (Da):47,607
    Last modified:September 19, 2006 - v3
    Checksum:i381E901F435AC5F2
    GO
    Isoform 2 (identifier: P55347-2) [UniParc]FASTAAdd to Basket

    Also known as: PKNOX1B

    The sequence of this isoform differs from the canonical sequence as follows:
         368-436: AVVTITTPVN...LVLENSDSLQ → TGGRPRPDMV...SHRARPRMTS

    Show »
    Length:405
    Mass (Da):44,629
    Checksum:i2413564513C5DE76
    GO

    Sequence cautioni

    The sequence AAC51243.1 differs from that shown. Reason: Erroneous initiation.
    The sequence BAA95533.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti153 – 1531K → E in CAA73934. (PubMed:9479508)Curated
    Sequence conflicti347 – 3471P → A in AAC51243. (PubMed:9143494)Curated
    Sequence conflicti430 – 4301E → A in CAA73934. (PubMed:9479508)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti126 – 1261R → H.
    Corresponds to variant rs9976017 [ dbSNP | Ensembl ].
    VAR_049588
    Natural varianti216 – 2161T → A.
    Corresponds to variant rs17115709 [ dbSNP | Ensembl ].
    VAR_049589
    Natural varianti265 – 2651V → I in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036440

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei368 – 43669AVVTI…SDSLQ → TGGRPRPDMVDHGVGIMNKR PGSGLLAVSHRARPRMTS in isoform 2. 1 PublicationVSP_017260Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U68727 mRNA. Translation: AAC51243.1. Different initiation.
    Y13613 mRNA. Translation: CAA73934.1.
    AY142115 mRNA. Translation: AAN34940.1.
    AP001748 Genomic DNA. Translation: BAA95533.1. Different initiation.
    CCDSiCCDS13692.1. [P55347-1]
    RefSeqiNP_004562.2. NM_004571.4. [P55347-1]
    UniGeneiHs.431043.

    Genome annotation databases

    EnsembliENST00000291547; ENSP00000291547; ENSG00000160199. [P55347-1]
    GeneIDi5316.
    KEGGihsa:5316.
    UCSCiuc002zcp.1. human. [P55347-2]
    uc002zcq.1. human. [P55347-1]

    Polymorphism databases

    DMDMi115311619.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U68727 mRNA. Translation: AAC51243.1 . Different initiation.
    Y13613 mRNA. Translation: CAA73934.1 .
    AY142115 mRNA. Translation: AAN34940.1 .
    AP001748 Genomic DNA. Translation: BAA95533.1 . Different initiation.
    CCDSi CCDS13692.1. [P55347-1 ]
    RefSeqi NP_004562.2. NM_004571.4. [P55347-1 ]
    UniGenei Hs.431043.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1X2N NMR - A 260-319 [» ]
    ProteinModelPortali P55347.
    SMRi P55347. Positions 258-319.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111333. 8 interactions.
    IntActi P55347. 10 interactions.
    MINTi MINT-1532511.
    STRINGi 9606.ENSP00000291547.

    PTM databases

    PhosphoSitei P55347.

    Polymorphism databases

    DMDMi 115311619.

    2D gel databases

    SWISS-2DPAGE P55347.

    Proteomic databases

    MaxQBi P55347.
    PaxDbi P55347.
    PRIDEi P55347.

    Protocols and materials databases

    DNASUi 5316.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000291547 ; ENSP00000291547 ; ENSG00000160199 . [P55347-1 ]
    GeneIDi 5316.
    KEGGi hsa:5316.
    UCSCi uc002zcp.1. human. [P55347-2 ]
    uc002zcq.1. human. [P55347-1 ]

    Organism-specific databases

    CTDi 5316.
    GeneCardsi GC21P044394.
    HGNCi HGNC:9022. PKNOX1.
    HPAi CAB004285.
    MIMi 602100. gene.
    neXtProti NX_P55347.
    PharmGKBi PA33354.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG277861.
    HOGENOMi HOG000253922.
    HOVERGENi HBG055193.
    InParanoidi P55347.
    OMAi CSEPDVE.
    OrthoDBi EOG71CFNK.
    PhylomeDBi P55347.
    TreeFami TF318093.

    Miscellaneous databases

    EvolutionaryTracei P55347.
    GeneWikii PKNOX1.
    GenomeRNAii 5316.
    NextBioi 20562.
    PROi P55347.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P55347.
    Bgeei P55347.
    CleanExi HS_PKNOX1.
    Genevestigatori P55347.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR001356. Homeobox_dom.
    IPR008422. Homeobox_KN_domain.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF05920. Homeobox_KN. 1 hit.
    [Graphical view ]
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3."
      Chen H., Rossier C., Nakamura Y., Lynn A., Chakravarti A., Antonarakis S.E.
      Genomics 41:193-200(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    2. "PKNOX1, a gene encoding PREP1, a new regulator of Pbx activity, maps on human chromosome 21q22.3 and murine chromosome 17B/C."
      Berthelsen J., Viggiano L., Schulz H., Ferretti E., Consalez G.G., Rocchi M., Blasi F.
      Genomics 47:323-324(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. "Molecular cloning for an alternatively splicing cDNA of human PKNOX1 gene and it's expression analysis."
      Ni B., Li L.Y., Yin Z.C., Zou Y.H., Li H.
      Yi Chuan Xue Bao 31:19-25(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY.
    4. "The DNA sequence of human chromosome 21."
      Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A.
      , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
      Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "Solution structure of the homeobox domain of human homeobox protein PKNOX1."
      RIKEN structural genomics initiative (RSGI)
      Submitted (OCT-2005) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 258-319.
    6. Cited for: VARIANT [LARGE SCALE ANALYSIS] ILE-265.

    Entry informationi

    Entry nameiPKNX1_HUMAN
    AccessioniPrimary (citable) accession number: P55347
    Secondary accession number(s): O00528, Q8IWT7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: September 19, 2006
    Last modified: October 1, 2014
    This is version 121 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 21
      Human chromosome 21: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3