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O00470

- MEIS1_HUMAN

UniProt

O00470 - MEIS1_HUMAN

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Protein

Homeobox protein Meis1

Gene

MEIS1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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. chromatin binding Source: Ensembl
  2. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: Ensembl
  3. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  4. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: Ensembl

GO - Biological processi

  1. angiogenesis Source: Ensembl
  2. definitive hemopoiesis Source: Ensembl
  3. lens morphogenesis in camera-type eye Source: Ensembl
  4. megakaryocyte development Source: Ensembl
  5. negative regulation of myeloid cell differentiation Source: UniProtKB
  6. negative regulation of neuron differentiation Source: Ensembl
Complete GO annotation...

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-KW
  2. transcription factor complex Source: Ensembl
Complete GO annotation...

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

BgeeiO00470.
CleanExiHS_MEIS1.
ExpressionAtlasiO00470. baseline and differential.
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. 17 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.
GeneTreeiENSGT00550000074260.
HOGENOMiHOG000253923.
HOVERGENiHBG055193.
InParanoidiO00470.
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

        10         20         30         40         50
MAQRYDDLPH YGGMDGVGIP STMYGDPHAA RSMQPVHHLN HGPPLHSHQY
60 70 80 90 100
PHTAHTNAMA PSMGSSVNDA LKRDKDAIYG HPLFPLLALI FEKCELATCT
110 120 130 140 150
PREPGVAGGD VCSSESFNED IAVFAKQIRA EKPLFSSNPE LDNLMIQAIQ
160 170 180 190 200
VLRFHLLELE KVHELCDNFC HRYISCLKGK MPIDLVIDDR EGGSKSDSED
210 220 230 240 250
ITRSANLTDQ PSWNRDHDDT ASTRSGGTPG PSSGGHTSHS GDNSSEQGDG
260 270 280 290 300
LDNSVASPST GDDDDPDKDK KRHKKRGIFP KVATNIMRAW LFQHLTHPYP
310 320 330 340 350
SEEQKKQLAQ DTGLTILQVN NWFINARRRI VQPMIDQSNR AVSQGTPYNP
360 370 380 390
DGQPMGGFVM DGQQHMGIRA PGPMSGMGMN MGMEGQWHYM
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. 17 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.
GeneTreei ENSGT00550000074260.
HOGENOMi HOG000253923.
HOVERGENi HBG055193.
InParanoidi O00470.
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

Bgeei O00470.
CleanExi HS_MEIS1.
ExpressionAtlasi O00470. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 123 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