MECOM MDS1 and EVI1 complex locus [Homo sapiens (human)] - Gene

Summary

Official Symbol: MECOMprovided by HGNC
Official Full Name: MDS1 and EVI1 complex locusprovided by HGNC
Primary source: HGNC:HGNC:3498
See related: Ensembl:ENSG00000085276 MIM:165215; AllianceGenome:HGNC:3498
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EVI1; MDS1; KMT8E; PRDM3; RUSAT2; MDS1-EVI1; AML1-EVI-1
Summary: The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
Expression: Broad expression in stomach (RPKM 15.9), kidney (RPKM 12.6) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q26.2

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (169083507..169663712, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (171867472..172447663, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (168801295..169381500, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure.
Title: A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure.
Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failure.
Title: Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failure.
MECOM Deficiency: from Bone Marrow Failure to Impaired B-Cell Development.
Title: MECOM Deficiency: from Bone Marrow Failure to Impaired B-Cell Development.
Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes.
Title: Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes.
Epigenetic landscape reveals MECOM as an endothelial lineage regulator.
Title: Epigenetic landscape reveals MECOM as an endothelial lineage regulator.
EVI1 exerts distinct roles in AML via ERG and cyclin D1 promoting a chemoresistant and immune-suppressive environment.
Title: EVI1 exerts distinct roles in AML via ERG and cyclin D1 promoting a chemoresistant and immune-suppressive environment.
The adverse impact of ecotropic viral integration site-1 (EVI1) overexpression on the prognosis of acute myeloid leukemia with KMT2A gene rearrangement in different risk stratification subtypes.
Title: The adverse impact of ecotropic viral integration site-1 (EVI1) overexpression on the prognosis of acute myeloid leukemia with KMT2A gene rearrangement in different risk stratification subtypes.
SF3B1 mutations in AML are strongly associated with MECOM rearrangements and may be indicative of an MDS pre-phase.
Title: SF3B1 mutations in AML are strongly associated with MECOM rearrangements and may be indicative of an MDS pre-phase.
EVI1 upregulates PTGS1 (COX1) and decreases the action of tyrosine kinase inhibitors (TKIs) in chronic myeloid leukemia cells.
Title: EVI1 upregulates PTGS1 (COX1) and decreases the action of tyrosine kinase inhibitors (TKIs) in chronic myeloid leukemia cells.
Mapping the developing human cardiac endothelium at single-cell resolution identifies MECOM as a regulator of arteriovenous gene expression.
Title: Mapping the developing human cardiac endothelium at single-cell resolution identifies MECOM as a regulator of arteriovenous gene expression.

Submit: New GeneRIF Correction See all GeneRIFs (164)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 MedGen: C4225221 OMIM: 616738 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study of aging. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies eight loci associated with blood pressure. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of blood pressure and hypertension. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies a MECOM gene as a novel predisposing factor of osteoporotic fracture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of MDS1 and EVI1 complex locus (MECOM) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-145476 (e-PCR)
- UniSTS:174598

Evi1 (e-PCR), detects polymorphism
- UniSTS:506889

RH123340 (e-PCR)
- UniSTS:135717

RH119568 (e-PCR)
- UniSTS:132651

D3S1282 (e-PCR), detects polymorphism
- UniSTS:68929

D3S1282 (e-PCR), detects polymorphism
- UniSTS:68930

G32475 (e-PCR)
- UniSTS:117060

SHGC-77512 (e-PCR)
- UniSTS:73286

RH36509 (e-PCR)
- UniSTS:48200

SGC38138 (e-PCR)
- UniSTS:74058

RH122176 (e-PCR)
- UniSTS:134736

SHGC-77524 (e-PCR)
- UniSTS:47700

NoName (e-PCR)
- UniSTS:482133

SHGC-2494 (e-PCR)
- UniSTS:44119

G66892 (e-PCR)
- UniSTS:166762

SHGC-112224 (e-PCR)
- UniSTS:168562

RH48013 (e-PCR)
- UniSTS:33907

SHGC-81191 (e-PCR)
- UniSTS:102015

D15S1165 (e-PCR)
- UniSTS:392

SHGC-144103 (e-PCR)
- UniSTS:172176

NoName (e-PCR)
- UniSTS:480676

SHGC-10621 (e-PCR)
- UniSTS:67250

Evi1 (e-PCR), detects polymorphism
- UniSTS:256973

Evi1 (e-PCR), detects polymorphism
- UniSTS:256974

A009E23 (e-PCR)
- UniSTS:27858

RH123722 (e-PCR)
- UniSTS:135926

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables histone H3 methyltransferase activity	TAS Traceable Author Statement more info
enables histone H3K9 methyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables histone H3K9 monomethyltransferase activity	IEA Inferred from Electronic Annotation more info
enables histone H3K9me2 methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in hematopoietic stem cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in heterochromatin organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in methylation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of JNK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of programmed cell death	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
part_of histone deacetylase complex	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: histone-lysine N-methyltransferase MECOM

Names: AML1-EVI-1 fusion protein; MDS1 and EVI1 complex locus protein EVI1; MDS1 and EVI1 complex locus protein MDS1; PR domain 3; ecotropic virus integration site 1 protein homolog; myelodysplasia syndrome-associated protein 1; oncogene EVI1; zinc finger protein Evi1

NP_001098547.3

EC 2.1.1.367

NP_001098548.2

EC 2.1.1.367

NP_001157471.1

EC 2.1.1.367

NP_001157472.1

EC 2.1.1.367

NP_001192123.1

EC 2.1.1.367

NP_001353395.1

EC 2.1.1.367

NP_001353396.1

EC 2.1.1.367

NP_001353397.1

EC 2.1.1.367

NP_001353398.1

EC 2.1.1.367

NP_001353399.1

EC 2.1.1.367

NP_001353400.1

EC 2.1.1.367

NP_001353401.1

EC 2.1.1.367

NP_001353402.1

EC 2.1.1.367

NP_001353403.1

EC 2.1.1.367

NP_004982.2

EC 2.1.1.367

NP_005232.2

EC 2.1.1.367

XP_005247270.1

EC 2.1.1.367

XP_005247271.1

EC 2.1.1.367

XP_005247278.1

EC 2.1.1.367

XP_011510848.1

EC 2.1.1.367

XP_047303633.1

EC 2.1.1.367

XP_047303634.1

EC 2.1.1.367

XP_047303635.1

EC 2.1.1.367

XP_047303636.1

EC 2.1.1.367

XP_047303637.1

EC 2.1.1.367

XP_047303638.1

EC 2.1.1.367

XP_047303639.1

EC 2.1.1.367

XP_047303640.1

EC 2.1.1.367

XP_047303641.1

EC 2.1.1.367

XP_047303642.1

EC 2.1.1.367

XP_047303643.1

EC 2.1.1.367

XP_047303644.1

EC 2.1.1.367

XP_047303645.1

EC 2.1.1.367

XP_047303646.1

EC 2.1.1.367

XP_047303647.1

EC 2.1.1.367

XP_047303648.1

EC 2.1.1.367

XP_047303649.1

EC 2.1.1.367

XP_047303650.1

EC 2.1.1.367

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_028279.2 RefSeqGene

Range

5064..585269

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1118

mRNA and Protein(s)

NM_001105077.4 → NP_001098547.3 histone-lysine N-methyltransferase MECOM isoform a

See identical proteins and their annotated locations for NP_001098547.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform a.

Source sequence(s)

AC078985, BC130520, BX647613

Consensus CDS

CCDS54670.1

UniProtKB/TrEMBL

C7FEN9

Related

ENSP00000264674.3, ENST00000264674.7

Conserved Domains (4) summary

sd00017
Location:800 → 820

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:798 → 820

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:812 → 836

zf-H2C2_2; Zinc-finger double domain

cl40432
Location:2 → 80

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
NM_001105078.4 → NP_001098548.2 histone-lysine N-methyltransferase MECOM isoform b

See identical proteins and their annotated locations for NP_001098548.2

Status: REVIEWED

Description

Transcript Variant: This variant (3, also known as EVI1_1b) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream start codon, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, and 7 all encode the same isoform.

Source sequence(s)

AC078985, AK292865, BX647613

Consensus CDS

CCDS3205.1

UniProtKB/TrEMBL

C7FEN9

Related

ENSP00000419995.1, ENST00000468789.5

Conserved Domains (6) summary

PHA00733
Location:689 → 785

PHA00733; hypothetical protein

COG5189
Location:114 → 207

SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

sd00017
Location:735 → 755

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:733 → 755

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:747 → 771

zf-H2C2_2; Zinc-finger double domain

pfam15909
Location:163 → 247

zf-C2H2_8; C2H2-type zinc ribbon
NM_001163999.2 → NP_001157471.1 histone-lysine N-methyltransferase MECOM isoform d

See identical proteins and their annotated locations for NP_001157471.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks a portion of the 5' UTR and 5' coding region, initiates translation at a downstream start codon, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (d) is shorter than isoform a.

Source sequence(s)

AC078985, BC143952, BX647613

UniProtKB/TrEMBL

C7FEN9

Conserved Domains (4) summary

PHA00733
Location:658 → 777

PHA00733; hypothetical protein

sd00017
Location:727 → 747

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:739 → 763

zf-H2C2_2; Zinc-finger double domain

pfam15909
Location:164 → 248

zf-C2H2_8; C2H2-type zinc ribbon
NM_001164000.2 → NP_001157472.1 histone-lysine N-methyltransferase MECOM isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (6, also known as EVI1_1a) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream start codon, and uses an alternate in-frame splice site and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (e) is shorter than isoform a.

Source sequence(s)

AC078985, BX640908, BX647613

Consensus CDS

CCDS54669.1

UniProtKB/TrEMBL

C7FEN9

Related

ENSP00000419770.1, ENST00000464456.5

Conserved Domains (5) summary

PHA00733
Location:657 → 776

PHA00733; hypothetical protein

COG5189
Location:114 → 207

SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

sd00017
Location:726 → 746

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:738 → 762

zf-H2C2_2; Zinc-finger double domain

pfam15909
Location:163 → 247

zf-C2H2_8; C2H2-type zinc ribbon
NM_001205194.2 → NP_001192123.1 histone-lysine N-methyltransferase MECOM isoform b

See identical proteins and their annotated locations for NP_001192123.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR and coding sequence compared to variant 1. The encoded isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, and 7 all encode the same isoform.

Source sequence(s)

BC130520, BX647613, DC347146, GQ352634

Consensus CDS

CCDS3205.1

UniProtKB/TrEMBL

C7FEN9

Conserved Domains (6) summary

PHA00733
Location:689 → 785

PHA00733; hypothetical protein

COG5189
Location:114 → 207

SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

sd00017
Location:735 → 755

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:733 → 755

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:747 → 771

zf-H2C2_2; Zinc-finger double domain

pfam15909
Location:163 → 247

zf-C2H2_8; C2H2-type zinc ribbon
NM_001366466.2 → NP_001353395.1 histone-lysine N-methyltransferase MECOM isoform f

Status: REVIEWED

Source sequence(s)

AC078985, AK308404, AL700380, DC417787

Consensus CDS

CCDS93424.1

UniProtKB/Swiss-Prot

A1L4F3, A8KA00, B7Z8W7, B7ZLQ3, B7ZLQ4, C9JAK0, D3DNP7, E7EQ57, Q03112, Q13465, Q13466, Q16122, Q5HYI1, Q6FH90, Q6MZS6, Q8NEI5, Q99917

UniProtKB/TrEMBL

C7FEN9

Related

ENSP00000417899.1, ENST00000494292.6

Conserved Domains (6) summary

PHA00733
Location:845 → 964

PHA00733; hypothetical protein

smart00317
Location:80 → 196

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

COG5189
Location:302 → 395

SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

sd00017
Location:914 → 934

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:926 → 950

zf-H2C2_2; Zinc-finger double domain

pfam15909
Location:351 → 435

zf-C2H2_8; C2H2-type zinc ribbon
NM_001366467.2 → NP_001353396.1 histone-lysine N-methyltransferase MECOM isoform g

Status: REVIEWED

Source sequence(s)

AC078985, AK025934

Consensus CDS

CCDS93423.1

UniProtKB/TrEMBL

A0A0C3SFZ7, C7FEN9

Conserved Domains (4) summary

sd00017
Location:736 → 756

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:734 → 756

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:748 → 772

zf-H2C2_2; Zinc-finger double domain

cl40432
Location:1 → 16

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
NM_001366468.2 → NP_001353397.1 histone-lysine N-methyltransferase MECOM isoform g

Status: REVIEWED

Source sequence(s)

AC078985, CN272058, DA229108, DB222598

Consensus CDS

CCDS93423.1

UniProtKB/TrEMBL

A0A0C3SFZ7, C7FEN9

Conserved Domains (4) summary

sd00017
Location:736 → 756

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:734 → 756

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:748 → 772

zf-H2C2_2; Zinc-finger double domain

cl40432
Location:1 → 16

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
NM_001366469.2 → NP_001353398.1 histone-lysine N-methyltransferase MECOM isoform b

Status: REVIEWED

Source sequence(s)

AC078985, AK025934

Consensus CDS

CCDS3205.1

UniProtKB/TrEMBL

C7FEN9

Conserved Domains (6) summary

PHA00733
Location:689 → 785

PHA00733; hypothetical protein

COG5189
Location:114 → 207

SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

sd00017
Location:735 → 755

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:733 → 755

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:747 → 771

zf-H2C2_2; Zinc-finger double domain

pfam15909
Location:163 → 247

zf-C2H2_8; C2H2-type zinc ribbon
NM_001366470.2 → NP_001353399.1 histone-lysine N-methyltransferase MECOM isoform d

Status: REVIEWED

Source sequence(s)

AC078985, BC031019

UniProtKB/TrEMBL

C7FEN9

Conserved Domains (4) summary

PHA00733
Location:658 → 777

PHA00733; hypothetical protein

sd00017
Location:727 → 747

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:739 → 763

zf-H2C2_2; Zinc-finger double domain

pfam15909
Location:164 → 248

zf-C2H2_8; C2H2-type zinc ribbon
NM_001366471.2 → NP_001353400.1 histone-lysine N-methyltransferase MECOM isoform e

Status: REVIEWED

Source sequence(s)

AC078985, AF487422, DA450456

Consensus CDS

CCDS54669.1

UniProtKB/TrEMBL

C7FEN9

Related

ENSP00000420466.1, ENST00000460814.5

Conserved Domains (5) summary

PHA00733
Location:657 → 776

PHA00733; hypothetical protein

COG5189
Location:114 → 207

SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

sd00017
Location:726 → 746

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:738 → 762

zf-H2C2_2; Zinc-finger double domain

pfam15909
Location:163 → 247

zf-C2H2_8; C2H2-type zinc ribbon
NM_001366472.2 → NP_001353401.1 histone-lysine N-methyltransferase MECOM isoform e

Status: REVIEWED

Source sequence(s)

AC078985

Consensus CDS

CCDS54669.1

UniProtKB/TrEMBL

C7FEN9

Conserved Domains (5) summary

PHA00733
Location:657 → 776

PHA00733; hypothetical protein

COG5189
Location:114 → 207

SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

sd00017
Location:726 → 746

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:738 → 762

zf-H2C2_2; Zinc-finger double domain

pfam15909
Location:163 → 247

zf-C2H2_8; C2H2-type zinc ribbon
NM_001366473.2 → NP_001353402.1 histone-lysine N-methyltransferase MECOM isoform h

Status: REVIEWED

Source sequence(s)

AC078985, AL700380, BC031019, BG427944, DB225328, DC417787

Conserved Domains (3) summary

COG5048
Location:289 → 631

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:590 → 610

ZF_C2H2; C2H2 Zn finger [structural motif]

cd19214
Location:47 → 204

PR-SET_PRDM3; PR-SET domain found in MDS1 and EVI1 complex locus protein and similar proteins
NM_001366474.2 → NP_001353403.1 histone-lysine N-methyltransferase MECOM isoform i

Status: REVIEWED

Source sequence(s)

AC078985, BF035536, BG427944, BX482681, DA588194, DA738166, DT219127

Conserved Domains (4) summary

PHA00733
Location:333 → 452

PHA00733; hypothetical protein

COG5048
Location:101 → 443

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:402 → 422

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:414 → 438

zf-H2C2_2; Zinc-finger double domain
NM_004991.4 → NP_004982.2 histone-lysine N-methyltransferase MECOM isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (4, also known as MDS1/EVI1) differs in the 5' UTR and 5' coding region, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is longer than isoform a. There are no publicly available full-length transcripts representing this variant, but it is supported by cloning evidence in PMID:11050005.

Source sequence(s)

AK304098, AL700380, BC130520, BX647613, CR541866, DC348381

Consensus CDS

CCDS93425.1

UniProtKB/TrEMBL

C7FEN9

Related

ENSP00000498411.1, ENST00000651503.2

Conserved Domains (5) summary

smart00317
Location:80 → 196

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

sd00017
Location:923 → 943

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:921 → 943

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:935 → 959

zf-H2C2_2; Zinc-finger double domain

pfam15909
Location:351 → 432

zf-C2H2_8; C2H2-type zinc ribbon
NM_005241.4 → NP_005232.2 histone-lysine N-methyltransferase MECOM isoform b

See identical proteins and their annotated locations for NP_005232.2

Status: REVIEWED

Description

Transcript Variant: This variant (2, also known as EVI1_1c) lacks a portion of the 5' UTR and 5' coding region, initiates translation at a downstream start codon, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, and 7 all encode the same isoform.

Source sequence(s)

AC078985, BC130520, BX647613, X54989

Consensus CDS

CCDS3205.1

UniProtKB/TrEMBL

C7FEN9

Related

ENSP00000486104.1, ENST00000628990.2

Conserved Domains (6) summary

PHA00733
Location:689 → 785

PHA00733; hypothetical protein

COG5189
Location:114 → 207

SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

sd00017
Location:735 → 755

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:733 → 755

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:747 → 771

zf-H2C2_2; Zinc-finger double domain

pfam15909
Location:163 → 247

zf-C2H2_8; C2H2-type zinc ribbon

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

169083507..169663712 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005247214.4 → XP_005247271.1 histone-lysine N-methyltransferase MECOM isoform X2

UniProtKB/TrEMBL

C7FEN9

Conserved Domains (5) summary

PHA00733
Location:846 → 965

PHA00733; hypothetical protein

sd00017
Location:915 → 935

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:913 → 935

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:927 → 951

zf-H2C2_2; Zinc-finger double domain

cd19214
Location:47 → 204

PR-SET_PRDM3; PR-SET domain found in MDS1 and EVI1 complex locus protein and similar proteins
XM_005247213.4 → XP_005247270.1 histone-lysine N-methyltransferase MECOM isoform X1

UniProtKB/TrEMBL

C7FEN9

Conserved Domains (4) summary

sd00017
Location:924 → 944

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:922 → 944

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:936 → 960

zf-H2C2_2; Zinc-finger double domain

cd19214
Location:47 → 204

PR-SET_PRDM3; PR-SET domain found in MDS1 and EVI1 complex locus protein and similar proteins
XM_047447690.1 → XP_047303646.1 histone-lysine N-methyltransferase MECOM isoform X16
XM_047447688.1 → XP_047303644.1 histone-lysine N-methyltransferase MECOM isoform X14
XM_047447682.1 → XP_047303638.1 histone-lysine N-methyltransferase MECOM isoform X9
XM_047447679.1 → XP_047303635.1 histone-lysine N-methyltransferase MECOM isoform X6
XM_047447689.1 → XP_047303645.1 histone-lysine N-methyltransferase MECOM isoform X15
XM_047447680.1 → XP_047303636.1 histone-lysine N-methyltransferase MECOM isoform X7
XM_011512546.3 → XP_011510848.1 histone-lysine N-methyltransferase MECOM isoform X5

UniProtKB/TrEMBL

C7FEN9

Conserved Domains (4) summary

sd00017
Location:808 → 828

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:806 → 828

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:820 → 844

zf-H2C2_2; Zinc-finger double domain

cl40432
Location:9 → 88

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
XM_047447678.1 → XP_047303634.1 histone-lysine N-methyltransferase MECOM isoform X4
XM_047447677.1 → XP_047303633.1 histone-lysine N-methyltransferase MECOM isoform X3
XM_047447687.1 → XP_047303643.1 histone-lysine N-methyltransferase MECOM isoform X13
XM_005247221.3 → XP_005247278.1 histone-lysine N-methyltransferase MECOM isoform X12

See identical proteins and their annotated locations for XP_005247278.1

UniProtKB/TrEMBL

A0A0C3SFZ7, C7FEN9

Related

ENSP00000420048.1, ENST00000472280.5

Conserved Domains (4) summary

sd00017
Location:736 → 756

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:734 → 756

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:748 → 772

zf-H2C2_2; Zinc-finger double domain

cl40432
Location:1 → 16

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
XM_047447694.1 → XP_047303650.1 histone-lysine N-methyltransferase MECOM isoform X20
XM_047447692.1 → XP_047303648.1 histone-lysine N-methyltransferase MECOM isoform X18
XM_047447693.1 → XP_047303649.1 histone-lysine N-methyltransferase MECOM isoform X19
XM_047447691.1 → XP_047303647.1 histone-lysine N-methyltransferase MECOM isoform X17
XM_047447686.1 → XP_047303642.1 histone-lysine N-methyltransferase MECOM isoform X13
XM_047447685.1 → XP_047303641.1 histone-lysine N-methyltransferase MECOM isoform X12

UniProtKB/TrEMBL

A0A0C3SFZ7
XM_047447684.1 → XP_047303640.1 histone-lysine N-methyltransferase MECOM isoform X11
XM_047447681.1 → XP_047303637.1 histone-lysine N-methyltransferase MECOM isoform X8
XM_047447683.1 → XP_047303639.1 histone-lysine N-methyltransferase MECOM isoform X10