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] See more...

Aliases for MNAT1 Gene

Aliases for MNAT1 Gene

  • MNAT1 Component Of CDK Activating Kinase 2 3 5
  • MNAT CDK-Activating Kinase Assembly Factor 1 2 3
  • MNAT1, CDK Activating Kinase Assembly Factor 2 3
  • CDK-Activating Kinase Assembly Factor MAT1 3 4
  • Menage A Trois 1 (CAK Assembly Factor) 2 3
  • CDK7/Cyclin-H Assembly Factor 3 4
  • RING Finger Protein MAT1 3 4
  • RING Finger Protein 66 3 4
  • CAP35 3 4
  • RNF66 3 4
  • MAT1 3 4
  • Menage A Trois Homolog 1, Cyclin H Assembly Factor (Xenopus Laevis) 2
  • Menage A Trois-Like Protein 1 Cyclin H Assembly Factor 3
  • Menage A Trois Homolog 1, Cyclin H Assembly Factor 3
  • CDK-Activating Kinase Assembly Factor 2
  • Cyclin G1 Interacting Protein 3
  • Cyclin-G1-Interacting Protein 4
  • Menage A Trois 4
  • TFB3 3
  • P35 4
  • P36 4

External Ids for MNAT1 Gene

Previous GeneCards Identifiers for MNAT1 Gene

  • GC14P058527
  • GC14P054995
  • GC14P059191
  • GC14P060271
  • GC14P061201
  • GC14P041364

Summaries for MNAT1 Gene

Entrez Gene Summary for MNAT1 Gene

  • 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]

GeneCards Summary for MNAT1 Gene

MNAT1 (MNAT1 Component Of CDK Activating Kinase) is a Protein Coding gene. Diseases associated with MNAT1 include Seckel Syndrome 2 and Seckel Syndrome 1. Among its related pathways are Formation of HIV-1 elongation complex containing HIV-1 Tat and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (GO) annotations related to this gene include protein N-terminus binding and RNA polymerase II CTD heptapeptide repeat kinase activity.

UniProtKB/Swiss-Prot Summary for MNAT1 Gene

  • 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-terminal 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 Gene

Additional gene information for MNAT1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MNAT1 Gene

Genomics for MNAT1 Gene

GeneHancer (GH) Regulatory Elements for MNAT1 Gene

Promoters and enhancers for MNAT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J060720 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 513.9 -12.0 -12010 4.6 FOXK2 ZNF217 CTCF NRF1 POLR2G USF1 NCOR1 PHF8 JUND FOS MNAT1 SIX4 TRMT5 RTN1 PPM1A RF00017-1572 SALRNA1
GH14J060734 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +1.0 960 3.4 ZBTB40 ZNF217 EP300 TCF12 POLR2G SP1 NCOR1 GTF2E2 PHF8 SIX5 MNAT1 NONHSAG015164.2 SLC38A6 TRMT5 RNU6-398P piR-32214-192
GH14J060640 Promoter/Enhancer 2.7 VISTA EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 -84.6 -84597 19.3 FOXK2 CTCF ZSCAN5C SIN3A POLR2G USF1 PHF8 TEAD4 ZFX ZNF639 MIR9718-001 SIX1 TRMT5 C14orf39 SLC38A6 PCNX4 LOC101927702 SIX4 TMEM30B MNAT1
GH14J060753 Enhancer 1 Ensembl ENCODE 11.2 +22.6 22559 9.8 ZBTB40 TEAD4 EP300 RFX1 RELA CUX1 TRIM22 NFYB POLR2A BCL11A SIX4 SLC38A6 MNAT1 TRMT5 HIF1A-AS1 lnc-SLC38A6-1 piR-32214-192 NONHSAG015164.2
GH14J060819 Enhancer 0.8 ENCODE 10.6 +85.0 85027 0.2 NCOR1 TCF7 TBX3 FOXA2 ZBTB33 JUND CREM SMAD4 BCL6 HOMEZ lnc-SIX4-3 lnc-SIX4-4 MNAT1 SLC38A6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MNAT1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MNAT1

Top Transcription factor binding sites by QIAGEN in the MNAT1 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • E47
  • Egr-3
  • Lmo2
  • MyoD
  • Nkx2-5

Genomic Locations for MNAT1 Gene

Genomic Locations for MNAT1 Gene
chr14:60,734,741-60,969,965
(GRCh38/hg38)
Size:
235,225 bases
Orientation:
Plus strand
chr14:61,201,459-61,436,671
(GRCh37/hg19)
Size:
235,213 bases
Orientation:
Plus strand

Genomic View for MNAT1 Gene

Genes around MNAT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MNAT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MNAT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MNAT1 Gene

Proteins for MNAT1 Gene

  • Protein details for MNAT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51948-MAT1_HUMAN
    Recommended name:
    CDK-activating kinase assembly factor MAT1
    Protein Accession:
    P51948
    Secondary Accessions:
    • G3V1U8
    • Q15817
    • Q6ICQ7

    Protein attributes for MNAT1 Gene

    Size:
    309 amino acids
    Molecular mass:
    35823 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for MNAT1 Gene

    Alternative splice isoforms for MNAT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MNAT1 Gene

Post-translational modifications for MNAT1 Gene

  • Ubiquitination at Lys167, Lys180, and Lys202
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MNAT1 Gene

Domains & Families for MNAT1 Gene

Gene Families for MNAT1 Gene

Protein Domains for MNAT1 Gene

Suggested Antigen Peptide Sequences for MNAT1 Gene

GenScript: Design optimal peptide antigens:
  • p36 (MAT1_HUMAN)
genes like me logo Genes that share domains with MNAT1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MNAT1 Gene

Function for MNAT1 Gene

Molecular function for MNAT1 Gene

UniProtKB/Swiss-Prot 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-terminal 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:
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

Phenotypes From GWAS Catalog for MNAT1 Gene

Gene Ontology (GO) - Molecular Function for MNAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 8692842
GO:0008094 contributes_to DNA-dependent ATPase activity IDA 9852112
GO:0008270 zinc ion binding TAS 8521818
GO:0008353 contributes_to RNA polymerase II CTD heptapeptide repeat kinase activity IDA 9852112
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MNAT1: view
genes like me logo Genes that share phenotypes with MNAT1: view

Animal Models for MNAT1 Gene

MGI Knock Outs for MNAT1:

Animal Model Products

CRISPR Products

miRNA for MNAT1 Gene

miRTarBase miRNAs that target MNAT1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MNAT1 Gene

Localization for MNAT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MNAT1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MNAT1 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MNAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS,IDA --
GO:0005675 transcription factor TFIIH holo complex IDA,IEA 9852112
GO:0005829 cytosol IDA --
GO:0019907 cyclin-dependent protein kinase activating kinase holoenzyme complex IDA 11445587
genes like me logo Genes that share ontologies with MNAT1: view

Pathways & Interactions for MNAT1 Gene

PathCards logo

SuperPathways for MNAT1 Gene

SuperPathway Contained pathways
1 Formation of HIV-1 elongation complex containing HIV-1 Tat
2 RNA Polymerase II Transcription Initiation And Promoter Clearance
.32
3 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
4 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
5 HIV Life Cycle
.45
genes like me logo Genes that share pathways with MNAT1: view

Pathways by source for MNAT1 Gene

2 GeneGo (Thomson Reuters) pathways for MNAT1 Gene
  • Cell cycle Regulation of G1/S transition (part 2)
  • Transcription Ligand-Dependent Transcription of Retinoid-Target genes

Gene Ontology (GO) - Biological Process for MNAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity IBA 21873635
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006289 nucleotide-excision repair IEA --
genes like me logo Genes that share ontologies with MNAT1: view

No data available for SIGNOR curated interactions for MNAT1 Gene

Drugs & Compounds for MNAT1 Gene

(1) Additional Compounds for MNAT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MNAT1: view

Transcripts for MNAT1 Gene

mRNA/cDNA for MNAT1 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MNAT1 Gene

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

Relevant External Links for MNAT1 Gene

GeneLoc Exon Structure for
MNAT1

Expression for MNAT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MNAT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MNAT1 Gene

This gene is overexpressed in Liver (45.6) and Peripheral blood mononuclear cells (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MNAT1 Gene



Protein tissue co-expression partners for MNAT1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MNAT1

SOURCE GeneReport for Unigene cluster for MNAT1 Gene:

Hs.509523

mRNA Expression by UniProt/SwissProt for MNAT1 Gene:

P51948-MAT1_HUMAN
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.

Evidence on tissue expression from TISSUES for MNAT1 Gene

  • Liver(4.2)
genes like me logo Genes that share expression patterns with MNAT1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MNAT1 Gene

Orthologs for MNAT1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MNAT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MNAT1 31 30
  • 99.78 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MNAT1 31
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MNAT1 31 30
  • 94.5 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MNAT1 31 30
  • 94.17 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mnat1 30
  • 88.2 (n)
mouse
(Mus musculus)
Mammalia Mnat1 17 31 30
  • 87.01 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MNAT1 31
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves MNAT1 31 30
  • 81.12 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MNAT1 31
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mnat1 30
  • 74.24 (n)
Str.6295 30
African clawed frog
(Xenopus laevis)
Amphibia mnat1-prov 30
zebrafish
(Danio rerio)
Actinopterygii mnat1 31 30
  • 66.99 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Mat1 31 32 30
  • 54.93 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008991 30
  • 53.51 (n)
worm
(Caenorhabditis elegans)
Secernentea mnat-1 31 30
  • 47.32 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C14872g 30
  • 56.74 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TFB3 33 31 30
  • 47.87 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR202C 30
  • 45.41 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pmh1 30
  • 46.3 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02587 30
  • 41.58 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10583 31
  • 39 (a)
OneToOne
Species where no ortholog for MNAT1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MNAT1 Gene

ENSEMBL:
Gene Tree for MNAT1 (if available)
TreeFam:
Gene Tree for MNAT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MNAT1: view image

Paralogs for MNAT1 Gene

No data available for Paralogs for MNAT1 Gene

Variants for MNAT1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MNAT1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
709473 Likely Benign: not provided 60,808,335(+) G/C MISSENSE_VARIANT
790144 Benign: not provided 60,796,349(+) C/T SYNONYMOUS_VARIANT
rs35188899 - p.Asp282Ala

Additional dbSNP identifiers (rs#s) for MNAT1 Gene

Structural Variations from Database of Genomic Variants (DGV) for MNAT1 Gene

Variant ID Type Subtype PubMed ID
esv2482420 CNV deletion 19546169
esv2540729 CNV deletion 19546169
esv2748755 CNV deletion 23290073
esv3304568 CNV mobile element insertion 20981092
esv3427711 CNV insertion 20981092
esv3634676 CNV loss 21293372
esv3634677 CNV loss 21293372
nsv1037387 CNV gain 25217958
nsv1049936 CNV loss 25217958
nsv507754 OTHER sequence alteration 20534489
nsv510637 CNV deletion 20534489
nsv564880 CNV gain 21841781
nsv564881 CNV gain 21841781
nsv564883 CNV gain 21841781
nsv983833 CNV duplication 23825009

Variation tolerance for MNAT1 Gene

Residual Variation Intolerance Score: 59.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.22; 24.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MNAT1 Gene

Human Gene Mutation Database (HGMD)
MNAT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MNAT1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MNAT1 Gene

Disorders for MNAT1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MNAT1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
seckel syndrome 2
  • sckl2
seckel syndrome 1
  • sckl1
- elite association - COSMIC cancer census association via MalaCards
Search MNAT1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MNAT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MNAT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MNAT1 Gene

Publications for MNAT1 Gene

  1. Polymorphisms of CAK genes and risk for lung cancer: a case-control study in Chinese population. (PMID: 17707548) Li Y … Lu D (Lung cancer (Amsterdam, Netherlands) 2007) 3 23 41 54
  2. Solution structure of the N-terminal domain of the human TFIIH MAT1 subunit: new insights into the RING finger family. (PMID: 11056162) Gervais V … Kieffer B (The Journal of biological chemistry 2001) 3 4 23 54
  3. 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. (PMID: 9465303) Eki T … Hanaoka F (Genomics 1998) 2 3 23 54
  4. Molecular cloning of CDK7-associated human MAT1, a cyclin-dependent kinase-activating kinase (CAK) assembly factor. (PMID: 8521393) Yee A … Xiong Y (Cancer research 1995) 3 4 23 54
  5. In vitro assembly of a functional human CDK7-cyclin H complex requires MAT1, a novel 36 kDa RING finger protein. (PMID: 8521818) Tassan JP … Nigg EA (The EMBO journal 1995) 3 4 23 54

Products for MNAT1 Gene

  • Boster Bio Antibodies for MNAT1
  • Boster Bio ELISA Kits for MNAT1
  • Signalway ELISA kits for MNAT1
  • Signalway Proteins for MNAT1

Sources for MNAT1 Gene