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Protein

MDS1 and EVI1 complex locus protein

Gene

MECOM

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

Functioni

Isoform 1: Functions as a transcriptional regulator binding to DNA sequences in the promoter region of target genes and regulating positively or negatively their expression. Oncogene which plays a role in development, cell proliferation and differentiation. May also play a role in apoptosis through regulation of the JNK and TGF-beta signaling. Involved in hematopoiesis.6 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri209 – 236C2H2-type 1PROSITE-ProRule annotationAdd BLAST28
Zinc fingeri263 – 285C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri291 – 313C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri319 – 342C2H2-type 4PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri348 – 370C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri376 – 398C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri405 – 427C2H2-type 7; atypicalPROSITE-ProRule annotationAdd BLAST23
Zinc fingeri912 – 934C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri940 – 963C2H2-type 9PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri969 – 991C2H2-type 10PROSITE-ProRule annotationAdd BLAST23

GO - Molecular functioni

  • DNA binding Source: UniProtKB
  • DNA binding transcription factor activity Source: UniProtKB
  • histone-lysine N-methyltransferase activity Source: Reactome
  • metal ion binding Source: UniProtKB-KW
  • protein homodimerization activity Source: UniProtKB

GO - Biological processi

  • apoptotic process Source: UniProtKB-KW
  • cell differentiation Source: UniProtKB-KW
  • hematopoietic stem cell proliferation Source: UniProtKB
  • negative regulation of JNK cascade Source: UniProtKB
  • negative regulation of programmed cell death Source: UniProtKB
  • negative regulation of transcription, DNA-templated Source: UniProtKB
  • positive regulation of transcription, DNA-templated Source: UniProtKB
  • regulation of cell cycle Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processApoptosis, Differentiation, Transcription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-3214841. PKMTs methylate histone lysines.
R-HSA-8943724. Regulation of PTEN gene transcription.
SignaLinkiQ03112.
SIGNORiQ03112.

Names & Taxonomyi

Protein namesi
Recommended name:
MDS1 and EVI1 complex locus proteinCurated
Alternative name(s):
Ecotropic virus integration site 1 protein homolog
Short name:
EVI-1
Myelodysplasia syndrome 1 protein
Myelodysplasia syndrome-associated protein 1
Gene namesi
Name:MECOMImported
Synonyms:EVI11 Publication, MDS11 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componentsi: Chromosome 3, Unplaced

Organism-specific databases

EuPathDBiHostDB:ENSG00000085276.17.
HGNCiHGNC:3498. MECOM.
MIMi165215. gene.
600049. gene.
neXtProtiNX_Q03112.
NX_Q13465.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving EVI1 is a cause of chronic myelogenous leukemia (CML). Translocation t(3;21)(q26;q22) with RUNX1/AML1.1 Publication
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (RUSAT2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disease characterized by proximal fusion of the radius and ulna resulting in extremely limited pronation and supination of the forearm, and congenital thrombocytopenia that progresses to pancytopenia.
See also OMIM:616738
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076308929R → W in RUSAT2; alters transcriptional regulation. 1 PublicationCorresponds to variant dbSNP:rs864309724Ensembl.1
Natural variantiVAR_076309930H → R in RUSAT2; alters transcriptional regulation. 1 PublicationCorresponds to variant dbSNP:rs864309723Ensembl.1
Natural variantiVAR_076310935T → A in RUSAT2; alters transcriptional regulation. 1 PublicationCorresponds to variant dbSNP:rs864309722Ensembl.1
A chromosomal aberration involving MDS1 is found in a form of acute myeloid leukemia (AML). Translocation t(3;21) with AML1.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi743 – 744DL → AS: Partial loss of interaction with CTBP1. Loss of interaction with CTBP1; when associated with 586-A-S-775. 1 Publication2
Mutagenesisi774 – 775DL → AS: Partial loss of interaction with CTBP1. Loss of interaction with CTBP1; when associated with 555-A-S-744. 1 Publication2

Keywords - Diseasei

Disease mutation, Proto-oncogene

Organism-specific databases

DisGeNETi2122.
MalaCardsiMECOM.
MIMi616738. phenotype.
OpenTargetsiENSG00000085276.
Orphaneti402020. 'Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)'.
52688. Myelodysplastic syndrome.
PharmGKBiPA27912.
PA30722.

Polymorphism and mutation databases

BioMutaiARHGAP32.
DMDMi145559472.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000472731 – 1230MDS1 and EVI1 complex locus proteinAdd BLAST1230

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Cross-linki249Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki292Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki367Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki374Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki430Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki523Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki543Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki547Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki555Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki622Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei624PhosphoserineCombined sources1
Cross-linki635Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki663Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki685Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki721Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei726PhosphoserineCombined sources1
Cross-linki731Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki732Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki735Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei740PhosphoserineBy similarity1
Cross-linki749Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki752Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki760Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki787Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki800Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki801Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki835Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki844Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki846Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki877Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1018Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1037PhosphoserineCombined sources1
Modified residuei1039PhosphoserineCombined sources1
Cross-linki1053Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1056Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1120Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1127Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1132Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1149Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1152Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1176Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1184Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Isoform 4 (identifier: Q03112-4)
Cross-linki254Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki390Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Isoform 2 (identifier: Q03112-3)
Cross-linki287Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources1 Publication
Cross-linki378Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources1 Publication
Isoform 6 (identifier: Q03112-6)
Cross-linki326Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki847Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Isoform 5 (identifier: Q03112-5)
Cross-linki846Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Post-translational modificationi

Phosphorylated.By similarity
May be acetylated by CREBBP and KAT2B.1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiQ03112.
PaxDbiQ03112.
PeptideAtlasiQ03112.
PRIDEiQ03112.

PTM databases

iPTMnetiQ03112.
PhosphoSitePlusiQ03112.

Expressioni

Gene expression databases

BgeeiENSG00000085276.
CleanExiHS_EVI1.
HS_MDS1.
ExpressionAtlasiQ03112. baseline and differential.
GenevisibleiQ03112. HS.

Organism-specific databases

HPAiHPA046537.

Interactioni

Subunit structurei

Isoform 1: Homooligomer. Interacts with SUV39H1 (via SET domain); enhances MECOM transcriptional repression activity (By similarity). Interacts with CTBP1. Interacts with SMAD3 (via MH2 domain); the interaction is direct. Interacts with SMAD4; through interaction with SMAD3. Interacts with CREBBP, KAT2B and histone deacetylases. Interacts with MAPK8 and MAPK9; inhibits JNK signaling (PubMed:10856240, PubMed:11568182, PubMed:15897867, PubMed:9665135).By similarity4 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi108423. 52 interactors.
DIPiDIP-38639N.
ELMiQ03112.
IntActiQ03112. 10 interactors.
MINTiQ03112.
STRINGi9606.ENSP00000264674.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6BW3X-ray2.20B/D1-12[»]
ProteinModelPortaliQ03112.
SMRiQ03112.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini78 – 190SETPROSITE-ProRule annotationAdd BLAST113

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni189 – 440Interaction with MAPK9, SMAD3 and probably SUV39H11 PublicationAdd BLAST252

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi609 – 622Nuclear localization signalSequence analysisAdd BLAST14
Motifi741 – 745CTBP-binding motif 1By similarity5
Motifi772 – 776CTBP-binding motif 2By similarity5

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1065 – 1116Asp/Glu-rich (acidic)Add BLAST52

Domaini

Both zinc finger regions are required for the transcriptional activation of PBX1.

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri209 – 236C2H2-type 1PROSITE-ProRule annotationAdd BLAST28
Zinc fingeri263 – 285C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri291 – 313C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri319 – 342C2H2-type 4PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri348 – 370C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri376 – 398C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri405 – 427C2H2-type 7; atypicalPROSITE-ProRule annotationAdd BLAST23
Zinc fingeri912 – 934C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri940 – 963C2H2-type 9PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri969 – 991C2H2-type 10PROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00900000140928.
HOVERGENiHBG005619.
InParanoidiQ03112.
KOiK04462.
OMAiDSYFTEI.
OrthoDBiEOG091G0BYE.
PhylomeDBiQ03112.
TreeFamiTF315309.

Family and domain databases

InterProiView protein in InterPro
IPR036970. Evi1.
IPR036236. Znf_C2H2_sf.
IPR013087. Znf_C2H2_type.
PANTHERiPTHR24393:SF11. PTHR24393:SF11. 1 hit.
SMARTiView protein in SMART
SM00355. ZnF_C2H2. 10 hits.
SUPFAMiSSF57667. SSF57667. 5 hits.
PROSITEiView protein in PROSITE
PS50280. SET. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 8 hits.
PS50157. ZINC_FINGER_C2H2_2. 10 hits.

Sequences (8)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative promoter usage and alternative splicing. AlignAdd to basket

Isoform 7 (identifier: Q03112-7) [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
MRSKGRARKL ATNNECVYGN YPEIPLEEMP DADGVASTPS LNIQEPCSPA
60 70 80 90 100
TSSEAFTPKE GSPYKAPIYI PDDIPIPAEF ELRESNMPGA GLGIWTKRKI
110 120 130 140 150
EVGEKFGPYV GEQRSNLKDP SYGWEILDEF YNVKFCIDAS QPDVGSWLKY
160 170 180 190 200
IRFAGCYDQH NLVACQINDQ IFYRVVADIA PGEELLLFMK SEDYPHETMA
210 220 230 240 250
PDIHEERQYR CEDCDQLFES KAELADHQKF PCSTPHSAFS MVEEDFQQKL
260 270 280 290 300
ESENDLQEIH TIQECKECDQ VFPDLQSLEK HMLSHTEERE YKCDQCPKAF
310 320 330 340 350
NWKSNLIRHQ MSHDSGKHYE CENCAKVFTD PSNLQRHIRS QHVGARAHAC
360 370 380 390 400
PECGKTFATS SGLKQHKHIH SSVKPFICEV CHKSYTQFSN LCRHKRMHAD
410 420 430 440 450
CRTQIKCKDC GQMFSTTSSL NKHRRFCEGK NHFAAGGFFG QGISLPGTPA
460 470 480 490 500
MDKTSMVNMS HANPGLADYF GANRHPAGLT FPTAPGFSFS FPGLFPSGLY
510 520 530 540 550
HRPPLIPASS PVKGLSSTEQ TNKSQSPLMT HPQILPATQD ILKALSKHPS
560 570 580 590 600
VGDNKPVELQ PERSSEERPF EKISDQSESS DLDDVSTPSG SDLETTSGSD
610 620 630 640 650
LESDIESDKE KFKENGKMFK DKVSPLQNLA SINNKKEYSN HSIFSPSLEE
660 670 680 690 700
QTAVSGAVND SIKAIASIAE KYFGSTGLVG LQDKKVGALP YPSMFPLPFF
710 720 730 740 750
PAFSQSMYPF PDRDLRSLPL KMEPQSPGEV KKLQKGSSES PFDLTTKRKD
760 770 780 790 800
EKPLTPVPSK PPVTPATSQD QPLDLSMGSR SRASGTKLTE PRKNHVFGGK
810 820 830 840 850
KGSNVESRPA SDGSLQHARP TPFFMDPIYR VEKRKLTDPL EALKEKYLRP
860 870 880 890 900
SPGFLFHPQM SAIENMAEKL ESFSALKPEA SELLQSVPSM FNFRAPPNAL
910 920 930 940 950
PENLLRKGKE RYTCRYCGKI FPRSANLTRH LRTHTGEQPY RCKYCDRSFS
960 970 980 990 1000
ISSNLQRHVR NIHNKEKPFK CHLCDRCFGQ QTNLDRHLKK HENGNMSGTA
1010 1020 1030 1040 1050
TSSPHSELES TGAILDDKED AYFTEIRNFI GNSNHGSQSP RNVEERMNGS
1060 1070 1080 1090 1100
HFKDEKALVT SQNSDLLDDE EVEDEVLLDE EDEDNDITGK TGKEPVTSNL
1110 1120 1130 1140 1150
HEGNPEDDYE ETSALEMSCK TSPVRYKEEE YKSGLSALDH IRHFTDSLKM
1160 1170 1180 1190 1200
RKMEDNQYSE AELSSFSTSH VPEELKQPLH RKSKSQAYAM MLSLSDKESL
1210 1220 1230
HSTSHSSSNV WHSMARAAAE SSAIQSISHV
Length:1,230
Mass (Da):138,136
Last modified:March 28, 2018 - v3
Checksum:i49E9B7CBCD422042
GO
Isoform 1 (identifier: Q03112-1) [UniParc]FASTAAdd to basket
Also known as: Long, Evi-1a

The sequence of this isoform differs from the canonical sequence as follows:
     1-188: Missing.
     859-859: Q → QFQLPDQRTW

Show »
Length:1,051
Mass (Da):118,276
Checksum:iBD132C53EA08D263
GO
Isoform 2 (identifier: Q03112-3) [UniParc]FASTAAdd to basket
Also known as: Evi-1c, Mds1/Evi1

The sequence of this isoform differs from the canonical sequence as follows:
     859-859: Q → QFQLPDQRTW

Note: Produced by alternative promoter usage. Unable to form homooligomers, to interact with CTBP1 and SMAD3 and to repress TGF-beta signaling.Combined sources1 Publication
Show »
Length:1,239
Mass (Da):139,308
Checksum:iE8A5EAD310102D53
GO
Isoform 4 (identifier: Q03112-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-125: MRSKGRARKL...NLKDPSYGWE → M
     326-326: K → KQ
     859-859: Q → QFQLPDQRTW

Show »
Length:1,116
Mass (Da):125,807
Checksum:i772D3F793270B394
GO
Isoform 5 (identifier: Q03112-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-188: Missing.

Show »
Length:1,042
Mass (Da):117,104
Checksum:i97476C1D04DB2007
GO
Isoform 6 (identifier: Q03112-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-188: Missing.
     326-326: K → KQ

Show »
Length:1,043
Mass (Da):117,232
Checksum:iB6A0605E499FF208
GO
Isoform 8 (identifier: Q03112-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     859-859: Q → QFQLPDQRTW
     939-945: PYRCKYC → LKNKDLQ
     946-1230: Missing.

Show »
Length:954
Mass (Da):107,019
Checksum:iE100813B49C6BD79
GO
Isoform 9 (identifier: Q03112-9) [UniParc]FASTAAdd to basket
Also known as: MDS1

The sequence of this isoform differs from the canonical sequence as follows:
     126-169: ILDEFYNVKF...HNLVACQIND → VHLPRSRRVS...MPGLQCAFLS
     170-1230: Missing.

Note: Produced by alternative promoter usage.
Show »
Length:169
Mass (Da):18,696
Checksum:i3EE36C8ACB62EFFE
GO

Sequence cautioni

The sequence AAB29907 differs from that shown. Chimeric cDNA that is the result of a chromosomal aberration involving EVI1 and RUNX1.Curated
The sequence AAB29907 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAI30521 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti126 – 127IL → VR in AAB05840 (PubMed:8643684).Curated2
Sequence conflicti208Q → R in CAE45952 (PubMed:17974005).Curated1
Sequence conflicti363L → P in CAE45952 (PubMed:17974005).Curated1
Sequence conflicti489F → S in BAF85554 (PubMed:14702039).Curated1
Sequence conflicti491F → V in CAA38735 (PubMed:2115646).Curated1
Sequence conflicti631S → P in CAI46086 (PubMed:17974005).Curated1
Sequence conflicti731K → R in CAE45952 (PubMed:17974005).Curated1
Sequence conflicti909K → R in BAF85554 (PubMed:14702039).Curated1
Sequence conflicti920I → V in CAI46086 (PubMed:17974005).Curated1
Sequence conflicti975D → Y in CAA38735 (PubMed:2115646).Curated1
Sequence conflicti1054D → E in CAA38735 (PubMed:2115646).Curated1
Sequence conflicti1060T → P in CAA38735 (PubMed:2115646).Curated1
Sequence conflicti1085N → Y in CAA38735 (PubMed:2115646).Curated1
Sequence conflicti1171V → A in BAF85554 (PubMed:14702039).Curated1
Sequence conflicti1187 – 1191AYAMM → VQIFP in AAB37456 (PubMed:8700545).Curated5
Sequence conflicti1192L → P in CAE45952 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051183120P → S. Corresponds to variant dbSNP:rs7622799Ensembl.1
Natural variantiVAR_061928295Q → R. Corresponds to variant dbSNP:rs34896995Ensembl.1
Natural variantiVAR_076308929R → W in RUSAT2; alters transcriptional regulation. 1 PublicationCorresponds to variant dbSNP:rs864309724Ensembl.1
Natural variantiVAR_076309930H → R in RUSAT2; alters transcriptional regulation. 1 PublicationCorresponds to variant dbSNP:rs864309723Ensembl.1
Natural variantiVAR_076310935T → A in RUSAT2; alters transcriptional regulation. 1 PublicationCorresponds to variant dbSNP:rs864309722Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0594791 – 188Missing in isoform 1, isoform 5 and isoform 6. Add BLAST188
Alternative sequenceiVSP_0594801 – 125MRSKG…SYGWE → M in isoform 4. Add BLAST125
Alternative sequenceiVSP_059481126 – 169ILDEF…CQIND → VHLPRSRRVSVHSWLYLGKR SSDVGIAFSQADVYMPGLQC AFLS in isoform 9. Add BLAST44
Alternative sequenceiVSP_059482170 – 1230Missing in isoform 9. Add BLAST1061
Alternative sequenceiVSP_059483326K → KQ in isoform 4 and isoform 6. 1
Alternative sequenceiVSP_059484859Q → QFQLPDQRTW in isoform 1, isoform 4, isoform 8 and isoform 2. 1
Alternative sequenceiVSP_059485939 – 945PYRCKYC → LKNKDLQ in isoform 8. 7
Alternative sequenceiVSP_059486946 – 1230Missing in isoform 8. Add BLAST285

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X54989 mRNA. Translation: CAA38735.1.
U43292 mRNA. Translation: AAB05839.1.
U43293 mRNA. Translation: AAB05840.1.
AK292865 mRNA. Translation: BAF85554.1.
AK304098 mRNA. Translation: BAH14103.1.
CR541866 mRNA. Translation: CAG46664.1.
CR541886 mRNA. Translation: CAG46684.1.
BX640908 mRNA. Translation: CAE45952.1.
BX647613 mRNA. Translation: CAI46086.1.
AC007849 Genomic DNA. No translation available.
AC024099 Genomic DNA. No translation available.
AC069220 Genomic DNA. No translation available.
AC074033 Genomic DNA. No translation available.
AC078985 Genomic DNA. No translation available.
KF457717 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW78549.1.
CH471052 Genomic DNA. Translation: EAW78553.1.
CH471052 Genomic DNA. Translation: EAW78556.1.
CH471052 Genomic DNA. Translation: EAW78557.1.
BC031019 mRNA. Translation: AAH31019.1.
BC069498 mRNA. Translation: AAH69498.1.
BC130520 mRNA. Translation: AAI30521.1. Different initiation.
BC143951 mRNA. Translation: AAI43952.1.
BC143952 mRNA. Translation: AAI43953.1.
S69002 mRNA. Translation: AAB29907.1. Sequence problems.
S82592 mRNA. Translation: AAB37456.1.
CCDSiCCDS3205.1. [Q03112-1]
CCDS54669.1. [Q03112-5]
CCDS54670.1. [Q03112-4]
PIRiA60191.
S41705.
RefSeqiNP_001098547.3. NM_001105077.3. [Q03112-4]
NP_001098548.2. NM_001105078.3. [Q03112-1]
NP_001157471.1. NM_001163999.1. [Q03112-6]
NP_001157472.1. NM_001164000.1. [Q03112-5]
NP_001192123.1. NM_001205194.1. [Q03112-1]
NP_004982.2. NM_004991.3. [Q03112-3]
NP_005232.2. NM_005241.3. [Q03112-1]
XP_005247276.1. XM_005247219.2.
XP_005247277.1. XM_005247220.2.
XP_005247278.1. XM_005247221.2.
XP_005247280.1. XM_005247223.2. [Q03112-1]
XP_016861363.1. XM_017005874.1. [Q03112-4]
XP_016861364.1. XM_017005875.1. [Q03112-5]
XP_016861365.1. XM_017005876.1. [Q03112-6]
UniGeneiHs.744090.

Genome annotation databases

EnsembliENST00000264674; ENSP00000264674; ENSG00000085276. [Q03112-4]
ENST00000464456; ENSP00000419770; ENSG00000085276. [Q03112-5]
ENST00000468789; ENSP00000419995; ENSG00000085276. [Q03112-1]
ENST00000628990; ENSP00000486104; ENSG00000085276. [Q03112-1]
GeneIDi2122.
KEGGihsa:2122.
UCSCiuc003ffi.3. human. [Q03112-1]

Keywords - Coding sequence diversityi

Alternative promoter usage, Alternative splicing, Chromosomal rearrangement, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMECOM_HUMAN
AccessioniPrimary (citable) accession number: Q03112
Secondary accession number(s): A1L4F3
, A8KA00, B7Z8W7, B7ZLQ3, B7ZLQ4, C9JAK0, D3DNP7, E7EQ57, Q13465, Q13466, Q16122, Q5HYI1, Q6FH90, Q6MZS6, Q8NEI5, Q99917
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: March 28, 2018
Last modified: March 28, 2018
This is version 176 of the entry and version 3 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

3D-structure, Complete proteome, Reference proteome