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Protein

MDS1 and EVI1 complex locus protein MDS1

Gene

MECOM

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  • transcription factor activity, sequence-specific DNA binding Source: ProtInc

Names & Taxonomyi

Protein namesi
Recommended name:
MDS1 and EVI1 complex locus protein MDS1
Alternative name(s):
Myelodysplasia syndrome 1 protein
Myelodysplasia syndrome-associated protein 1
Gene namesi
Name:MECOM
Synonyms:MDS1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:3498. MECOM.

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving MDS1 is found in a form of acute myeloid leukemia (AML). Translocation t(3;21) with AML1.1 Publication

Organism-specific databases

DisGeNETi2122.
MalaCardsiMECOM.
PharmGKBiPA27912.
PA30722.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000963381 – 169MDS1 and EVI1 complex locus protein MDS1Add BLAST169

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki99Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Isoform 4 (identifier: Q03112-4)
Cross-linki66Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Cross-linki202Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Isoform 2 (identifier: Q03112-3)
Cross-linki99Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki190Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Isoform 6 (identifier: Q03112-6)
Cross-linki138Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki659Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Isoform 5 (identifier: Q03112-5)
Cross-linki658Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

MaxQBiQ13465.
PeptideAtlasiQ13465.
PRIDEiQ13465.

PTM databases

iPTMnetiQ13465.
PhosphoSitePlusiQ13465.

Expressioni

Gene expression databases

CleanExiHS_MDS1.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
RABGAP1LQ5R372-23EBI-8475192,EBI-10692254

Protein-protein interaction databases

BioGridi108423. 52 interactors.
IntActiQ13465. 3 interactors.
MINTiMINT-8417693.

Structurei

3D structure databases

ProteinModelPortaliQ13465.
SMRiQ13465.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

HOVERGENiHBG031707.
PhylomeDBiQ13465.

Family and domain databases

InterProiView protein in InterPro
IPR026710. MDS1.
PANTHERiPTHR21652. PTHR21652. 1 hit.

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative promoter usage and alternative splicing. AlignAdd to basket

Isoform 3 (identifier: Q13465-1) [UniParc]FASTAAdd to basket
Also known as: Mds1

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
MRSKGRARKL ATNNECVYGN YPEIPLEEMP DADGVASTPS LNIQEPCSPA
60 70 80 90 100
TSSEAFTPKE GSPYKAPIYI PDDIPIPAEF ELRESNMPGA GLGIWTKRKI
110 120 130 140 150
EVGEKFGPYV GEQRSNLKDP SYGWEVHLPR SRRVSVHSWL YLGKRSSDVG
160
IAFSQADVYM PGLQCAFLS
Note: Produced by alternative promoter usage.
Length:169
Mass (Da):18,696
Last modified:November 1, 1996 - v1
Checksum:i3EE36C8ACB62EFFE
GO
Isoform 1 (identifier: Q03112-1) [UniParc]FASTAAdd to basket
Also known as: Long, Evi-1a
The sequence of this isoform can be found in the external entry Q03112.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Length:1,051
Mass (Da):118,276
GO
Isoform 2 (identifier: Q03112-3) [UniParc]FASTAAdd to basket
Also known as: Evi-1c, Mds1/Evi1
The sequence of this isoform can be found in the external entry Q03112.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Note: Produced by alternative promoter usage. Contains an additional SET domain at positions 79-194. Unable to form homooligomers, to interact with CTBP1 and SMAD3 and to repress TGF-beta signaling.Combined sources
Length:1,239
Mass (Da):139,308
GO
Isoform 4 (identifier: Q03112-4) [UniParc]FASTAAdd to basket
The sequence of this isoform can be found in the external entry Q03112.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Length:1,116
Mass (Da):125,807
GO
Isoform 5 (identifier: Q03112-5) [UniParc]FASTAAdd to basket
The sequence of this isoform can be found in the external entry Q03112.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Length:1,042
Mass (Da):117,104
GO
Isoform 6 (identifier: Q03112-6) [UniParc]FASTAAdd to basket
The sequence of this isoform can be found in the external entry Q03112.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Length:1,043
Mass (Da):117,232
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051183120P → S. Corresponds to variant dbSNP:rs7622799Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U43292 mRNA. Translation: AAB05839.1.
U43293 mRNA. Translation: AAB05840.1. Sequence problems.
CR541866 mRNA. Translation: CAG46664.1.
CR541886 mRNA. Translation: CAG46684.1.
CH471052 Genomic DNA. Translation: EAW78549.1.
BC069498 mRNA. Translation: AAH69498.1.
RefSeqiNP_004982.2. NM_004991.3.
UniGeneiHs.744090.

Genome annotation databases

GeneIDi2122.

Keywords - Coding sequence diversityi

Alternative promoter usage, Alternative splicing, Chromosomal rearrangement, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMDS1_HUMAN
AccessioniPrimary (citable) accession number: Q13465
Secondary accession number(s): Q13466, Q6FH90
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: November 1, 1996
Last modified: October 25, 2017
This is version 125 of the entry and version 1 of the sequence. See 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 3
    Human chromosome 3: 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