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O00470 (MEIS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 118. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Homeobox protein Meis1
Gene names
Name:MEIS1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length390 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.5

Subunit structure

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. Ref.5

Subcellular location

Nucleus By similarity.

Tissue specificity

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.

Involvement in disease

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.

Sequence similarities

Belongs to the TALE/MEIS homeobox family.

Contains 1 homeobox DNA-binding domain.

Binary interactions

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O00470-1)

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.
Isoform 2 (identifier: O00470-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 390390Homeobox protein Meis1
PRO_0000049105

Regions

DNA binding272 – 33463Homeobox; TALE-type
Region335 – 39056Required for transcriptional activation By similarity
Compositional bias194 – 24047Ser/Thr-rich
Compositional bias242 – 26928Asp/Glu-rich (acidic)
Compositional bias262 – 2698Poly-Asp

Natural variations

Alternative sequence1 – 44MAQR → MQ in isoform 2.
VSP_034957
Alternative sequence373 – 39018PMSGM…QWHYM → LQSMPGEYVARGGPMGVSMG QPSYTQPQMPPHPAQLRHGP PMHTYIPGHPHHPTVMMHGG PPHPGMPMSASSPTVLNTGD PTMSGQVMDIHAQ in isoform 2.
VSP_034958
Natural variant2721R → H Found in a patient with susceptibility to restless legs syndrome. Ref.7
Corresponds to variant rs61752693 [ dbSNP | Ensembl ].
VAR_063166

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 1, 1997. Version 1.
Checksum: 3B6A0ACCF0C39121

FASTA39043,016
        10         20         30         40         50         60 
MAQRYDDLPH YGGMDGVGIP STMYGDPHAA RSMQPVHHLN HGPPLHSHQY PHTAHTNAMA 

        70         80         90        100        110        120 
PSMGSSVNDA LKRDKDAIYG HPLFPLLALI FEKCELATCT PREPGVAGGD VCSSESFNED 

       130        140        150        160        170        180 
IAVFAKQIRA EKPLFSSNPE LDNLMIQAIQ VLRFHLLELE KVHELCDNFC HRYISCLKGK 

       190        200        210        220        230        240 
MPIDLVIDDR EGGSKSDSED ITRSANLTDQ PSWNRDHDDT ASTRSGGTPG PSSGGHTSHS 

       250        260        270        280        290        300 
GDNSSEQGDG LDNSVASPST GDDDDPDKDK KRHKKRGIFP KVATNIMRAW LFQHLTHPYP 

       310        320        330        340        350        360 
SEEQKKQLAQ DTGLTILQVN NWFINARRRI VQPMIDQSNR AVSQGTPYNP DGQPMGGFVM 

       370        380        390 
DGQQHMGIRA PGPMSGMGMN MGMEGQWHYM 

« Hide

Isoform 2 [UniParc].

Checksum: D8F5B46D79D60A71
Show »

FASTA46350,576

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"MEIS1 p.R272H in familial restless legs syndrome."
Vilarino-Guell C., Chai H., Keeling B.H., Young J.E., Rajput A., Lynch T., Aasly J.O., Uitti R.J., Wszolek Z.K., Farrer M.J., Lin S.-C.
Neurology 73:243-245(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HIS-272, POSSIBLE INVOLVEMENT IN SUSCEPTIBILITY TO RESTLESS LEGS SYNDROME TYPE 7.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_002389.1. NM_002398.2.
UniGeneHs.526754.
Hs.603755.

3D structure databases

ProteinModelPortalO00470.
SMRO00470. Positions 279-334.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110375. 13 interactions.
IntActO00470. 11 interactions.
STRING9606.ENSP00000272369.

PTM databases

PhosphoSiteO00470.

Proteomic databases

PaxDbO00470.
PRIDEO00470.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000272369; ENSP00000272369; ENSG00000143995. [O00470-1]
ENST00000398506; ENSP00000381518; ENSG00000143995. [O00470-2]
GeneID4211.
KEGGhsa:4211.
UCSCuc002sdt.3. human. [O00470-1]

Organism-specific databases

CTD4211.
GeneCardsGC02P066660.
HGNCHGNC:7000. MEIS1.
HPACAB011521.
HPA056000.
MIM601739. gene.
612853. phenotype.
neXtProtNX_O00470.
PharmGKBPA30740.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG302919.
HOGENOMHOG000253923.
HOVERGENHBG055193.
KOK15613.
PhylomeDBO00470.
TreeFamTF318093.

Enzyme and pathway databases

SignaLinkO00470.

Gene expression databases

ArrayExpressO00470.
BgeeO00470.
CleanExHS_MEIS1.
GenevestigatorO00470.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR001356. Homeobox_dom.
IPR008422. Homeobox_KN_domain.
IPR009057. Homeodomain-like.
[Graphical view]
PfamPF05920. Homeobox_KN. 1 hit.
[Graphical view]
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMEIS1. human.
GeneWikiMEIS1.
GenomeRNAi4211.
NextBio16590.
PROO00470.
SOURCESearch...

Entry information

Entry nameMEIS1_HUMAN
AccessionPrimary (citable) accession number: O00470
Secondary accession number(s): A8MV50
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 1, 1997
Last modified: April 16, 2014
This is version 118 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM