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O00470

- MEIS1_HUMAN

UniProt

O00470 - MEIS1_HUMAN

Protein

Homeobox protein Meis1

Gene

MEIS1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 122 (01 Oct 2014)
      Sequence version 1 (01 Jul 1997)
      Previous versions | rss
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    Functioni

    Acts as a transcriptional regulator of PAX6. Acts as a transcriptional activator of PF4 in complex with PBX1 or PBX2. Required for hematopoiesis, megakaryocyte lineage development and vascular patterning. May function as a cofactor for HOXA7 and HOXA9 in the induction of myeloid leukemias.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi272 – 33463Homeobox; TALE-typePROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. sequence-specific DNA binding Source: InterPro
    3. sequence-specific DNA binding transcription factor activity Source: InterPro

    GO - Biological processi

    1. multicellular organismal development Source: UniProtKB-KW
    2. negative regulation of myeloid cell differentiation Source: UniProtKB
    3. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Activator, Developmental protein

    Keywords - Biological processi

    Transcription

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    SignaLinkiO00470.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein Meis1
    Gene namesi
    Name:MEIS1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:7000. MEIS1.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Restless legs syndrome 7 (RLS7) [MIM:612853]: A neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation. The majority of patients also have periodic limb movements in sleep, which are characterized by involuntary, highly stereotypical, regularly occurring limb movements that occur during sleep.
    Note: Disease susceptibility may be associated with variations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi612853. phenotype.
    PharmGKBiPA30740.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 390390Homeobox protein Meis1PRO_0000049105Add
    BLAST

    Proteomic databases

    MaxQBiO00470.
    PaxDbiO00470.
    PRIDEiO00470.

    PTM databases

    PhosphoSiteiO00470.

    Expressioni

    Tissue specificityi

    Expressed at low level in normal immunohepatopoietic tissues, including the fetal liver. Expressed in a subset of myeloid leukemia cell lines, with the highest expression seen in those with a megakaryocytic-erythroid phenotype. Also expressed at high levels in the cerebellum.

    Gene expression databases

    ArrayExpressiO00470.
    BgeeiO00470.
    CleanExiHS_MEIS1.
    GenevestigatoriO00470.

    Organism-specific databases

    HPAiCAB011521.
    HPA056000.

    Interactioni

    Subunit structurei

    Interacts with the N-terminal region of PBX1 to form a heterodimer which binds DNA including a cAMP-responsive sequence in CYP17. Also forms heterodimers with PBX2. Forms heterotrimers with PBX1 or PBX2 and a number of HOX proteins including HOXA9, HOXD4 and HOXD9 where it acts as a non-DNA-binding partner. Also forms heterotrimers with PBX1 and HOX proteins including HOXD9 and HOXD10 where PBX1 is the non-DNA-binding partner.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    CREB1P162209EBI-1210694,EBI-711855
    ETS1P149212EBI-1210694,EBI-913209
    TLX1P313144EBI-1210694,EBI-2820655

    Protein-protein interaction databases

    BioGridi110375. 13 interactions.
    IntActiO00470. 11 interactions.
    STRINGi9606.ENSP00000272369.

    Structurei

    3D structure databases

    ProteinModelPortaliO00470.
    SMRiO00470. Positions 279-334.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni335 – 39056Required for transcriptional activationBy similarityAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi194 – 24047Ser/Thr-richAdd
    BLAST
    Compositional biasi242 – 26928Asp/Glu-rich (acidic)Add
    BLAST
    Compositional biasi262 – 2698Poly-Asp

    Sequence similaritiesi

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

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG302919.
    HOGENOMiHOG000253923.
    HOVERGENiHBG055193.
    KOiK15613.
    PhylomeDBiO00470.
    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: O00470-1) [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

    MAQRYDDLPH YGGMDGVGIP STMYGDPHAA RSMQPVHHLN HGPPLHSHQY    50
    PHTAHTNAMA PSMGSSVNDA LKRDKDAIYG HPLFPLLALI FEKCELATCT 100
    PREPGVAGGD VCSSESFNED IAVFAKQIRA EKPLFSSNPE LDNLMIQAIQ 150
    VLRFHLLELE KVHELCDNFC HRYISCLKGK MPIDLVIDDR EGGSKSDSED 200
    ITRSANLTDQ PSWNRDHDDT ASTRSGGTPG PSSGGHTSHS GDNSSEQGDG 250
    LDNSVASPST GDDDDPDKDK KRHKKRGIFP KVATNIMRAW LFQHLTHPYP 300
    SEEQKKQLAQ DTGLTILQVN NWFINARRRI VQPMIDQSNR AVSQGTPYNP 350
    DGQPMGGFVM DGQQHMGIRA PGPMSGMGMN MGMEGQWHYM 390
    Length:390
    Mass (Da):43,016
    Last modified:July 1, 1997 - v1
    Checksum:i3B6A0ACCF0C39121
    GO
    Isoform 2 (identifier: O00470-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-4: MAQR → MQ
         373-390: PMSGMGMNMGMEGQWHYM → LQSMPGEYVA...SGQVMDIHAQ

    Show »
    Length:463
    Mass (Da):50,576
    Checksum:iD8F5B46D79D60A71
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti272 – 2721R → H Found in a patient with susceptibility to restless legs syndrome. 1 Publication
    Corresponds to variant rs61752693 [ dbSNP | Ensembl ].
    VAR_063166

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 44MAQR → MQ in isoform 2. 1 PublicationVSP_034957
    Alternative sequencei373 – 39018PMSGM…QWHYM → LQSMPGEYVARGGPMGVSMG QPSYTQPQMPPHPAQLRHGP PMHTYIPGHPHHPTVMMHGG PPHPGMPMSASSPTVLNTGD PTMSGQVMDIHAQ in isoform 2. 1 PublicationVSP_034958Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U85707 mRNA. Translation: AAC51642.1.
    CR612956 mRNA. No translation available.
    AC007392 Genomic DNA. No translation available.
    AC092669 Genomic DNA. No translation available.
    AC093641 Genomic DNA. No translation available.
    BC043503 mRNA. Translation: AAH43503.1.
    CCDSiCCDS46309.1. [O00470-1]
    RefSeqiNP_002389.1. NM_002398.2. [O00470-1]
    UniGeneiHs.526754.
    Hs.603755.

    Genome annotation databases

    EnsembliENST00000272369; ENSP00000272369; ENSG00000143995. [O00470-1]
    ENST00000398506; ENSP00000381518; ENSG00000143995. [O00470-2]
    GeneIDi4211.
    KEGGihsa:4211.
    UCSCiuc002sdt.3. human. [O00470-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, 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
    U85707 mRNA. Translation: AAC51642.1 .
    CR612956 mRNA. No translation available.
    AC007392 Genomic DNA. No translation available.
    AC092669 Genomic DNA. No translation available.
    AC093641 Genomic DNA. No translation available.
    BC043503 mRNA. Translation: AAH43503.1 .
    CCDSi CCDS46309.1. [O00470-1 ]
    RefSeqi NP_002389.1. NM_002398.2. [O00470-1 ]
    UniGenei Hs.526754.
    Hs.603755.

    3D structure databases

    ProteinModelPortali O00470.
    SMRi O00470. Positions 279-334.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110375. 13 interactions.
    IntActi O00470. 11 interactions.
    STRINGi 9606.ENSP00000272369.

    PTM databases

    PhosphoSitei O00470.

    Proteomic databases

    MaxQBi O00470.
    PaxDbi O00470.
    PRIDEi O00470.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000272369 ; ENSP00000272369 ; ENSG00000143995 . [O00470-1 ]
    ENST00000398506 ; ENSP00000381518 ; ENSG00000143995 . [O00470-2 ]
    GeneIDi 4211.
    KEGGi hsa:4211.
    UCSCi uc002sdt.3. human. [O00470-1 ]

    Organism-specific databases

    CTDi 4211.
    GeneCardsi GC02P066660.
    HGNCi HGNC:7000. MEIS1.
    HPAi CAB011521.
    HPA056000.
    MIMi 601739. gene.
    612853. phenotype.
    neXtProti NX_O00470.
    PharmGKBi PA30740.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG302919.
    HOGENOMi HOG000253923.
    HOVERGENi HBG055193.
    KOi K15613.
    PhylomeDBi O00470.
    TreeFami TF318093.

    Enzyme and pathway databases

    SignaLinki O00470.

    Miscellaneous databases

    ChiTaRSi MEIS1. human.
    GeneWikii MEIS1.
    GenomeRNAii 4211.
    NextBioi 16590.
    PROi O00470.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O00470.
    Bgeei O00470.
    CleanExi HS_MEIS1.
    Genevestigatori O00470.

    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 and mapping of the MEIS1 gene, the human homolog of a murine leukemogenic gene."
      Smith J.E. Jr., Bollekens J.A., Inghirami G., Takeshita K.
      Genomics 43:99-103(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Full-length cDNA libraries and normalization."
      Li W.B., Gruber C., Jessee J., Polayes D.
      Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Placenta.
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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).
      Tissue: Uterus.
    5. "Homeodomain proteins MEIS1 and PBXs regulate the lineage-specific transcription of the platelet factor 4 gene."
      Okada Y., Nagai R., Sato T., Matsuura E., Minami T., Morita I., Doi T.
      Blood 101:4748-4756(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH PBX1 AND PBX2.
    6. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. Cited for: VARIANT HIS-272, POSSIBLE INVOLVEMENT IN SUSCEPTIBILITY TO RESTLESS LEGS SYNDROME TYPE 7.

    Entry informationi

    Entry nameiMEIS1_HUMAN
    AccessioniPrimary (citable) accession number: O00470
    Secondary accession number(s): A8MV50
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: July 1, 1997
    Last modified: October 1, 2014
    This is version 122 of the entry and version 1 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 2
      Human chromosome 2: 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