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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MNAT1 Gene

protein-coding GIFtS: 64
GCID: GC14P061201

menage a trois homolog 1, cyclin H assembly factor (Xenopus...

(Previous name: menage a trois 1 (CAK assembly factor) )

Explore 15 diseases affiliated with
MNAT1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Menage A Trois Homolog 1, Cyclin H Assembly Factor (Xenopus Laevis)¹ ²		RING Finger Protein MAT1² ³
MAT1¹ ² ³ ⁵		TFB3²
RNF66¹ ² ³		CDK-Activating Kinase Assembly Factor MAT1²
Menage A Trois 1 (CAK Assembly Factor)¹ ²		Cyclin G1 Interacting Protein²
Cyclin-G1-Interacting Protein² ³		Menage A Trois³
CAP35² ³		P35¹
CDK7/Cyclin-H Assembly Factor² ³		P36¹
RING Finger Protein 66² ³

External Ids:	HGNC: 7181¹	Entrez Gene: 4331²	Ensembl: ENSG00000020426⁷	OMIM: 602659⁵	UniProtKB: P51948³

Export aliases for MNAT1 gene to outside databases

Previous GC identifers: GC14P058527 GC14P054995 GC14P059191 GC14P060271 GC14P041364

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MNAT1:

The protein encoded by this gene, along with cyclin H and CDK7, forms the CDK-activating kinase (CAK) enzymatic

complex. This complex activates several cyclin-associated kinases and can also associate with TFIIH to activate

transcription by RNA polymerase II. Two transcript variants encoding different isoforms have been found for this gene.

(provided by RefSeq, Sep 2011)

UniProtKB/Swiss-Prot: MAT1_HUMAN, P51948

Function: Stabilizes the cyclin H-CDK7 complex to form a functional CDK-activating kinase (CAK) enzymatic complex. CAK

activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed to the

core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive

C-terminus domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the

transcripts. Involved in cell cycle control and in RNA transcription by RNA polymerase II

Gene Wiki entry for MNAT1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000014.8 NC_018925.1 NT_026437.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MNAT1 gene promoter:
Egr-3 Lmo2 MyoD Nkx2-5 AP-2gamma E47 AP-2beta AP-2alpha AP-2alphaA
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MNAT1 promoter sequence

Search SABiosciences Chromatin IP Primers for MNAT1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MNAT1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q23 Ensembl cytogenetic band: 14q23.1 HGNC cytogenetic band: 14q23

MNAT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MNAT1 gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14P061201: view genomic region (about GC identifiers)

Start:	61,201,459 bp from pter	End:	61,436,671 bp from pter
Size:	235,213 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MAT1_HUMAN, P51948 (See protein sequence)

Recommended Name: CDK-activating kinase assembly factor MAT1

Size: 309 amino acids; 35823 Da

Subunit: Associates primarily with CDK7 and cyclin H to form the CAK complex. CAK can further associate with the

core-TFIIH to form the TFIIH basal transcription factor

Subcellular location: Nucleus

1 PDB 3D structure from and Proteopedia for MNAT1:

1G25 (3D)

Secondary accessions: Q15817 Q6ICQ7

Explore the universe of human proteins at neXtProt for MNAT1: NX_P51948

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P51948

MNAT1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001171434.1 NP_002422.1

ENSEMBL proteins:

ENSP00000261245 ENSP00000446437 ENSP00000451379 ENSP00000451017

Reactome Protein details: P51948
Human Recombinant Protein Products:

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	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MNAT1

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005654	nucleoplasm	TAS	--
GO:0005675	holo TFIIH complex	IDA	9852112
GO:0005737	cytoplasm	IDA	--
GO:0043231	intracellular membrane-bounded organelle	IDA	--

MNAT1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for MNAT1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MNAT1 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR001841 Znf_RING

IPR004575 MAT1/Tfb3

IPR013083 Znf_RING/FYVE/PHD

IPR003903 Ubiquitin-int_motif

IPR017907 Znf_RING_CS

Graphical View of Domain Structure for InterPro Entry P51948

ProtoNet protein and cluster: P51948

1 Blocks protein family: IPB001841 Zn-finger

UniProtKB/Swiss-Prot: MAT1_HUMAN, P51948

Similarity: Contains 1 RING-type zinc finger

Similarity: Contains 1 UIM (ubiquitin-interacting motif) repeat

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: MAT1_HUMAN, P51948

Function: Stabilizes the cyclin H-CDK7 complex to form a functional CDK-activating kinase (CAK) enzymatic complex. CAK

activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed to the

core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive

C-terminus domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the

transcripts. Involved in cell cycle control and in RNA transcription by RNA polymerase II

Genatlas biochemistry entry for MNAT1:

CDK activating kinase (CAK1) assembly factor MAT1 (menage a trois),36kDa,forming a ternary complex with CDK7 and CCNH

(see symbols),associating in the multisubunit complex TFIIH (GTF2H),putatively involved in cell cycle

control,transcription,DNA repair

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MNAT1

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004672	contributes to protein kinase activity	IDA	9852112
GO:0005515	protein binding	IPI	8692842
GO:0008094	contributes to DNA-dependent ATPase activity	IDA	9852112
GO:0008270	zinc ion binding	IEA	--
GO:0008353	contributes to RNA polymerase II carboxy-terminal domain kinase activity	IDA	9852112

MNAT1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for MNAT1:

Upregulation of Wnt/beta-caten

Animal Models:
Mouse knock-outs for MNAT1: Mnat1^tm2.1Tpm Mnat1^tm1Tpm
7 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Mnat1):

behavior/neurological	embryogenesis	growth/size	mortality/aging	nervous system
normal	reproductive system

MNAT1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/23 super-pathways (see all 23) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Formation of RNA Pol II elongation complex

8/26 pathways (see all 26)
RNA Polymerase II Transcription Elongation	1.00	Dual incision reaction in TC-NER	0.46
Formation of HIV-1 elongation complex in the absence of HIV-1 Tat	1.00	Formation of transcription-coupled NER (TC-NER) repair complex	0.46
Formation of RNA Pol II elongation complex	1.00	Addition of the fourth nucleotide on the nascent HIV-1 transcript: Second Transition	0.40
Formation of HIV-1 elongation complex containing HIV-1 Tat	0.98	RNA Polymerase II Transcription Initiation And Promoter Clearance	0.40

RNA Polymerase I Chain Elongation

RNA Polymerase I Chain Elongation	1.00	RNA Polymerase I Transcription Termination	0.90
RNA Polymerase I Promoter Escape	0.95	RNA Polymerase I Promoter Clearance	0.86
RNA Polymerase I Transcription Initiation	0.90	RNA Polymerase I Transcription	0.79

Global Genomic NER (GG-NER)

	Global Genomic NER (GG-NER)	1.00			Dual incision reaction in GG-NER	0.61
	Nucleotide excision repair	0.70			Formation of incision complex in GG-NER	0.61

HIV Infection

	HIV Infection	1.00			Transcription Ligand-Dependent Transcription of Retinoid-Target genes	0.28
	Transcription_Ligand-Dependent Transcription of Retinoid-Target genes	0.28

Nucleotide Excision Repair

	Nucleotide Excision Repair	1.00			DNA Repair	0.46
	Transcription-coupled NER (TC-NER)	0.90

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for MNAT1

	Cell cycle Regulation of G1/S transition (part 2)
	Meiosis
	Transcription Ligand-Dependent Transcription of Retinoid-Target genes

2 GeneGo (Thomson Reuters) Pathways for MNAT1

	Cell cycle Regulation of G1/S transition (part 2)
	Transcription Ligand-Dependent Transcription of Retinoid-Target genes

5 BioSystems Pathways for MNAT1

	G1 to S cell cycle control
	Eukaryotic Transcription Initiation
	Integrated Pancreatic Cancer Pathway
	Integrated Pancreatic Cancer Pathway
	Retinoic acid receptors-mediated signaling

5/58 Reactome Pathways for MNAT1 (see all 58)

	Tat-mediated elongation of the HIV-1 transcript
	RNA Polymerase I Promoter Escape
	RNA Polymerase II Transcription Initiation And Promoter Clearance
	RNA Polymerase I Transcription
	S Phase

2 Kegg Pathways (Kegg details for MNAT1):

	Basal transcription factors
	Nucleotide excision repair

MNAT1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MNAT1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/174 Interacting proteins for MNAT1 (P51948^{2, 3} ENSP00000261245⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 174)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HPS6	Q86YV9²^,³, ENSP00000299238⁴	MINT-63851 I2D: score=5 STRING: ENSP00000299238
HIST1H2BC	P62807³	I2D: score=1
HIST1H2BE	P62807³	I2D: score=1
HIST1H2BF	P62807³	I2D: score=1
HIST1H2BG	P62807³	I2D: score=1

About this table

Gene Ontology (GO): 5/36 biological process terms (GO ID links to tree view) (see all 36): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000079	regulation of cyclin-dependent protein kinase activity	TAS	8521818
GO:0000080	G1 phase of mitotic cell cycle	TAS	--
GO:0000082	G1/S transition of mitotic cell cycle	TAS	--
GO:0000084	S phase of mitotic cell cycle	TAS	--
GO:0000086	G2/M transition of mitotic cell cycle	TAS	--

MNAT1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

MNAT1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MNAT1
1 Novoseek chemical compound relationship for MNAT1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
retinoic acid	36.5	31	15345685 (4), 12213824 (3), 19764350 (2), 15126328 (1)

Search CenterWatch for drugs/clinical trials and news about MNAT1 / MAT1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MNAT1 gene (2 alternative transcripts):

NM_001177963.1 NM_002431.3

Unigene Cluster for MNAT1:

Menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)

Hs.509523 [show with all ESTs]

Unigene Representative Sequence: NM_002431

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000555545 ENST00000261245(uc001xfd.3 uc001xfe.3) ENST00000556764(uc010apq.2)

ENST00000539616 ENST00000553354 ENST00000556525 ENST00000554002 ENST00000554641

ENST00000557134

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Additional cDNA sequence:

AK308701.1 BC000820.1 CR450336.1 U61835.1 X87843.1 X92669.1

9 DOTS entries:

DT.445358 DT.317979 DT.120748962 DT.95376663 DT.91751656 DT.100813225 DT.91751657 DT.95378723

DT.95242399

24/223 AceView cDNA sequences (see all 223):

AI468151 CB133901 AI360907 BF223647 AA485028 BG941507 CB134673 BF513124

W23918 BM480313 AA602610 CA429906 BM460412 CR603397 AI952660 BU681521

AI359689 BE465464 CA415303 AA699720 BM692465 AI090028 CR450336 AA654493

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for MNAT1 About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6	^	7	^	8
SP1:
SP2:													-

ECgene alternative splicing isoforms for MNAT1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MNAT1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCAGAGCTGC

About this image

MNAT1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MNAT1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MNAT1

SOURCE GeneReport for Unigene cluster: Hs.509523

UniProtKB/Swiss-Prot: MAT1_HUMAN, P51948

Tissue specificity: Highest levels in colon and testis. Moderate levels are present thymus, prostate, ovary, and small

intestine. The lowest levels are found in spleen and leukocytes

SABiosciences Expression via Pathway-Focused PCR Arrays including MNAT1:

Cell Cycle in human mouse rat

Ubiquitin Ligases in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MNAT1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for MNAT1 gene from 10/34 species (see all 34) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Mnat1^{1 , 5}	menage a trois 1^{1, 5}	87.01(n)¹ 95.78(a)¹		12 (30.37 cM)⁵ 17420¹ NM_008612.2¹ NP_032638.2¹ 73123717⁵
chicken (Gallus gallus)	Aves	MNAT1¹	menage a trois homolog 1, cyclin H assembly factor more	81.12(n) 90.61(a)		423521 XM_421420.3 XP_421420.2
lizard (Anolis carolinensis)	Reptilia	MNAT1⁶	--	77(a)	1 ↔ 1	GL343261.1(576574-625394)
African clawed frog (Xenopus laevis)	Amphibia	mnat1-prov²	menage a trois 1	77.99(n)		BC054267.1
zebrafish (Danio rerio)	Actinopterygii	mnat1¹	menage a trois homolog 1	66.99(n) 75.41(a)		450080 NM_001006100.1 NP_001006100.1
fruit fly (Drosophila melanogaster)	Insecta	Mat1^{1 , 3}	transcription initiation from Pol II promoter more³ CG7614-PA¹	52(a)³ 54.93(n)¹ 55.26(a)¹		47B9³ 36130¹ NM_136761.2¹ NP_610605.1¹
worm (Caenorhabditis elegans)	Secernentea	mnat-1¹	Protein MNAT-1	47.32(n) 34.56(a)		173602 NM_061879.7 NP_494280.3
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	TFB3(YDR460W)⁴ TFB3¹	Subunit of TFIIH and nucleotide excision repair factor more⁴ Tfb3p¹	52.25(n)¹ 38.38(a)¹		4(1383811-1384776)⁴ 852071^{1, 4} NP_010748.3¹ NP_010748.1⁴
thale cress (Arabidopsis thaliana)	eudicotyledons	AT4G30820⁶	CDK-activating kinase assembly factor MAT1	27(a)	1 ↔ 1	4(15006489-15008546)
rice (Oryza sativa)	Liliopsida	-- --	CDK-activating kinase assembly factor MAT1 family ... CDK-activating kinase assembly factor MAT1 family ...	27(a) 27(a)	many → 1 many → 1	11(15844486-15846993) 6(3595002-3597294)

ENSEMBL Gene Tree for MNAT1 (if available)
TreeFam Gene Tree for MNAT1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs71114160^1,2	C	--	41454654(+)	`AAACA-/ATA AAAACATCCTT`	1	--	int¹		1		NA	2
rs117864093^1,2	C,F,	--	61199586(+)	`TAATCT/CTAAGT`	2	--	us2k¹		1		EA	120
rs75970555^1,2	F,	--	61199621(+)	`ACTTCG/ACAACG`	2	--	us2k¹		1		EA	120
rs138264877^1,2		--	61199651(+)	`AAAGAC/TGTAAT`	2	--	us2k¹		0	--	--	--	--
rs114368618^1,2	F,	--	61199936(+)	`CTAGCC/TTGGGC`	2	--	us2k¹		1		WA	118
rs183397009^1,2		--	61200021(+)	`CCATCC/TGAGTG`	2	--	us2k¹		0	--	--	--	--
rs4151147^1,2	C,F,H,	--	61200068(+)	`TGCACA/TTATGA`	2	--	us2k¹ tfbs³		6		NS EA NA	718
rs142740909^1,2		--	61200189(+)	`AGTACC/TAGAGT`	2	--	us2k¹		0	--	--	--	--
rs4151148^1,2	C,F,H,	--	61200391(+)	`TATGGT/CTTATT`	2	--	us2k¹		11		NS EA NA WA	1148
rs187173612^1,2		--	61200537(+)	`TTTTGA/GGTTTT`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for MNAT1 (61201459 - 61436671 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for MNAT1
2 CNVs: 101964 101965

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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MNAT1 for disorders           About GeneDecksing

OMIM gene information: 602659    OMIM disorders: --

15 diseases for MNAT1:    About MalaCards

systemic lupus erythematosus lupus erythematosus ovarian carcinoma multiple sclerosis

crohn's disease cervical cancer cervicitis lung cancer

carcinoma neuroblastoma immunodeficiency malaria

leukemia prostatitis neuronitis

4 Novoseek disease relationships for MNAT1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
paratuberculosis	53.8	4	11118734 (2), 11930899 (1), 12353858 (1)
ovarian carcinoma	22.2	2	12903788 (2)
retinoblastoma	20.4	1	11113200 (1)
tumors	0	2	2026354 (1), 11113200 (1)

Human Genome Epidemiology (HuGE) Navigator: MNAT1 (5 documents)

Export disorders for MNAT1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for MNAT1 gene, integrated from 9 sources (see all 119):
(articles sorted by number of sources associating them with MNAT1)

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In vitro assembly of a functional human CDK7-cyclin H complex requires MAT1, a novel 36 kDa RING finger protein. (PubMed id 8521818)^{1, 2, 9} Tassan J.-P....Nigg E.A. (1995)
Molecular cloning of CDK7-associated human MAT1, a cyclin-dependent kinase-activating kinase (CAK) assembly factor. (PubMed id 8521393)^{1, 2, 9} Yee A.... Xiong Y. (1995)
Mapping of the human genes encoding cyclin H (CCNH) and the CDK-activating kinase (CAK) assembly factor MAT1 (MNAT1) to chromosome bands 5q13.3-q14 and 14q23, respectively. (PubMed id 9465303)^{1, 3, 9} Eki T....Hanaoka F. (1998)
Solution structure of the N-terminal domain of the human TFIIH MAT1 subunit: new insights into the RING finger family. (PubMed id 11056162)^{1, 2, 9} Gervais V.... Kieffer B. (2001)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7. (PubMed id 10024882)^{1, 2} Tirode F.... Egly J.-M. (1999)
Immunoaffinity purification and functional characterization of human transcription factor IIH and RNA polymerase II from clonal cell lines that conditionally express epitope-tagged subunits of the multiprotein complexes. (PubMed id 9852112)^{1, 2} Kershnar E.... Chiang C.-M. (1998)
Distinct regions of MAT1 regulate cdk7 kinase and TFIIH transcription activities. (PubMed id 10801852)^{1, 9} Busso D....Egly J.M. (2000)
Retinoid-induced G1 arrest and differentiation activation are associated with a switch to cyclin-dependent kinase-activating kinase hypophosphorylation of retinoic acid receptor alpha. (PubMed id 12213824)^{1, 9} Wang J....Wu L. (2002)
MAT1-modulated CAK activity regulates cell cycle G(1) exit. (PubMed id 11113200)^{1, 9} Wu L....Triche T.J. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4331	HGNC: 7181	AceView: MNAT1	Ensembl:ENSG00000020426	euGenes: HUgn4331
ECgene: MNAT1	Kegg: 4331	H-InvDB: MNAT1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MNAT1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for MNAT1	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/mnat1/

Intellectual Property for MNAT1 gene
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Patent Information for MNAT1 gene:
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