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P54821

- PRRX1_HUMAN

UniProt

P54821 - PRRX1_HUMAN

Protein

Paired mesoderm homeobox protein 1

Gene

PRRX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 132 (01 Oct 2014)
      Sequence version 2 (15 Jul 1999)
      Previous versions | rss
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    Functioni

    Acts as a transcriptional regulator of muscle creatine kinase (MCK) and so has a role in the establishment of diverse mesodermal muscle types. The protein binds to an A/T-rich element in the muscle creatine enhancer By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi94 – 15360HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. sequence-specific DNA binding Source: InterPro
    2. sequence-specific DNA binding transcription factor activity Source: InterPro
    3. transcription coactivator activity Source: ProtInc

    GO - Biological processi

    1. artery morphogenesis Source: Ensembl
    2. cartilage development Source: Ensembl
    3. embryonic cranial skeleton morphogenesis Source: Ensembl
    4. embryonic limb morphogenesis Source: Ensembl
    5. inner ear morphogenesis Source: Ensembl
    6. middle ear morphogenesis Source: Ensembl
    7. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    8. palate development Source: Ensembl
    9. positive regulation of mesenchymal cell proliferation Source: Ensembl
    10. positive regulation of smoothened signaling pathway Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Paired mesoderm homeobox protein 1
    Alternative name(s):
    Homeobox protein PHOX1
    Paired-related homeobox protein 1
    Short name:
    PRX-1
    Gene namesi
    Name:PRRX1
    Synonyms:PMX1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:9142. PRRX1.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleolus Source: HPA
    2. nucleus Source: HPA

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Agnathia-otocephaly complex (AGOTC) [MIM:202650]: A rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti113 – 1131F → S in AGOTC. 1 Publication
    VAR_066414

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi202650. phenotype.
    Orphaneti990. Agnathia - holoprosencephaly - situs inversus.
    PharmGKBiPA33466.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 245245Paired mesoderm homeobox protein 1PRO_0000049251Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei160 – 1601N6-acetyllysineBy similarity
    Modified residuei197 – 1971PhosphoserineSequence Analysis

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    PaxDbiP54821.
    PRIDEiP54821.

    PTM databases

    PhosphoSiteiP54821.

    Expressioni

    Gene expression databases

    ArrayExpressiP54821.
    BgeeiP54821.
    CleanExiHS_PRRX1.
    GenevestigatoriP54821.

    Organism-specific databases

    HPAiHPA051084.

    Interactioni

    Protein-protein interaction databases

    BioGridi111405. 1 interaction.
    STRINGi9606.ENSP00000356734.

    Structurei

    3D structure databases

    ProteinModelPortaliP54821.
    SMRiP54821. Positions 94-150.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi222 – 23514OARAdd
    BLAST

    Sequence similaritiesi

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

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG267226.
    HOGENOMiHOG000231518.
    HOVERGENiHBG021349.
    InParanoidiP54821.
    KOiK09329.
    OMAiWGSAAPY.
    PhylomeDBiP54821.
    TreeFamiTF351612.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR003654. OAR_dom.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    PF03826. OAR. 1 hit.
    [Graphical view]
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    PS50803. OAR. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P54821-1) [UniParc]FASTAAdd to Basket

    Also known as: PMX1-B

    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

    MTSSYGHVLE RQPALGGRLD SPGNLDTLQA KKNFSVSHLL DLEEAGDMVA    50
    AQADENVGEA GRSLLESPGL TSGSDTPQQD NDQLNSEEKK KRKQRRNRTT 100
    FNSSQLQALE RVFERTHYPD AFVREDLARR VNLTEARVQV WFQNRRAKFR 150
    RNERAMLANK NASLLKSYSG DVTAVEQPIV PRPAPRPTDY LSWGTASPYS 200
    AMATYSATCA NNSPAQGINM ANSIANLRLK AKEYSLQRNQ VPTVN 245
    Length:245
    Mass (Da):27,296
    Last modified:July 15, 1999 - v2
    Checksum:i7CA4B7FD9492FC19
    GO
    Isoform 2 (identifier: P54821-2) [UniParc]FASTAAdd to Basket

    Also known as: PMX1-A

    The sequence of this isoform differs from the canonical sequence as follows:
         200-245: SAMATYSATCANNSPAQGINMANSIANLRLKAKEYSLQRNQVPTVN → RSSSLPRCCLHEGLHNGF

    Show »
    Length:217
    Mass (Da):24,396
    Checksum:i2EE22A9078821642
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti113 – 1131F → S in AGOTC. 1 Publication
    VAR_066414

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei200 – 24546SAMAT…VPTVN → RSSSLPRCCLHEGLHNGF in isoform 2. 1 PublicationVSP_002278Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB451463 mRNA. Translation: BAG70277.1.
    Z97200 Genomic DNA. No translation available.
    BC074993 mRNA. Translation: AAH74993.1.
    M95929 mRNA. Translation: AAA60085.1.
    CCDSiCCDS1290.1. [P54821-1]
    CCDS1291.1. [P54821-2]
    RefSeqiNP_008833.1. NM_006902.4. [P54821-2]
    NP_073207.1. NM_022716.3. [P54821-1]
    UniGeneiHs.283416.

    Genome annotation databases

    EnsembliENST00000239461; ENSP00000239461; ENSG00000116132. [P54821-1]
    ENST00000367760; ENSP00000356734; ENSG00000116132. [P54821-2]
    GeneIDi5396.
    KEGGihsa:5396.
    UCSCiuc001ghe.3. human. [P54821-2]
    uc001ghf.3. human. [P54821-1]

    Polymorphism databases

    DMDMi6174916.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB451463 mRNA. Translation: BAG70277.1 .
    Z97200 Genomic DNA. No translation available.
    BC074993 mRNA. Translation: AAH74993.1 .
    M95929 mRNA. Translation: AAA60085.1 .
    CCDSi CCDS1290.1. [P54821-1 ]
    CCDS1291.1. [P54821-2 ]
    RefSeqi NP_008833.1. NM_006902.4. [P54821-2 ]
    NP_073207.1. NM_022716.3. [P54821-1 ]
    UniGenei Hs.283416.

    3D structure databases

    ProteinModelPortali P54821.
    SMRi P54821. Positions 94-150.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111405. 1 interaction.
    STRINGi 9606.ENSP00000356734.

    PTM databases

    PhosphoSitei P54821.

    Polymorphism databases

    DMDMi 6174916.

    Proteomic databases

    PaxDbi P54821.
    PRIDEi P54821.

    Protocols and materials databases

    DNASUi 5396.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000239461 ; ENSP00000239461 ; ENSG00000116132 . [P54821-1 ]
    ENST00000367760 ; ENSP00000356734 ; ENSG00000116132 . [P54821-2 ]
    GeneIDi 5396.
    KEGGi hsa:5396.
    UCSCi uc001ghe.3. human. [P54821-2 ]
    uc001ghf.3. human. [P54821-1 ]

    Organism-specific databases

    CTDi 5396.
    GeneCardsi GC01P170632.
    HGNCi HGNC:9142. PRRX1.
    HPAi HPA051084.
    MIMi 167420. gene.
    202650. phenotype.
    neXtProti NX_P54821.
    Orphaneti 990. Agnathia - holoprosencephaly - situs inversus.
    PharmGKBi PA33466.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG267226.
    HOGENOMi HOG000231518.
    HOVERGENi HBG021349.
    InParanoidi P54821.
    KOi K09329.
    OMAi WGSAAPY.
    PhylomeDBi P54821.
    TreeFami TF351612.

    Miscellaneous databases

    ChiTaRSi PRRX1. human.
    GeneWikii PRRX1.
    GenomeRNAii 5396.
    NextBioi 20925.
    PROi P54821.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P54821.
    Bgeei P54821.
    CleanExi HS_PRRX1.
    Genevestigatori P54821.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR003654. OAR_dom.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    PF03826. OAR. 1 hit.
    [Graphical view ]
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    PS50803. OAR. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human protein factory for converting the transcriptome into an in vitro-expressed proteome."
      Goshima N., Kawamura Y., Fukumoto A., Miura A., Honma R., Satoh R., Wakamatsu A., Yamamoto J., Kimura K., Nishikawa T., Andoh T., Iida Y., Ishikawa K., Ito E., Kagawa N., Kaminaga C., Kanehori K., Kawakami B.
      , Kenmochi K., Kimura R., Kobayashi M., Kuroita T., Kuwayama H., Maruyama Y., Matsuo K., Minami K., Mitsubori M., Mori M., Morishita R., Murase A., Nishikawa A., Nishikawa S., Okamoto T., Sakagami N., Sakamoto Y., Sasaki Y., Seki T., Sono S., Sugiyama A., Sumiya T., Takayama T., Takayama Y., Takeda H., Togashi T., Yahata K., Yamada H., Yanagisawa Y., Endo Y., Imamoto F., Kisu Y., Tanaka S., Isogai T., Imai J., Watanabe S., Nomura N.
      Nat. Methods 5:1011-1017(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    2. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    4. "Human and Drosophila homeodomain proteins that enhance the DNA-binding activity of serum response factor."
      Grueneberg D.A., Natesan S., Alexandre C., Gilman M.Z.
      Science 257:1089-1095(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 19-197 (ISOFORM 2).
    5. "PRRX1 is mutated in a fetus with agnathia-otocephaly."
      Sergi C., Kamnasaran D.
      Clin. Genet. 79:293-295(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT AGOTC SER-113.

    Entry informationi

    Entry nameiPRRX1_HUMAN
    AccessioniPrimary (citable) accession number: P54821
    Secondary accession number(s): B5BUM7, O60807
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: July 15, 1999
    Last modified: October 1, 2014
    This is version 132 of the entry and version 2 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 1
      Human chromosome 1: 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