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Aliases for MNAT1 Gene

Aliases for MNAT1 Gene

  • MNAT1, CDK Activating Kinase Assembly Factor 2 3 5
  • MNAT CDK-Activating Kinase Assembly Factor 1 2 3
  • 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 MAT1 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, CDK Activating Kinase Assembly Factor) is a Protein Coding gene. Among its related pathways are HIV Life Cycle and Nucleotide excision repair. GO annotations related to this gene include protein N-terminus binding and RNA polymerase II carboxy-terminal domain kinase activity.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MNAT1 Gene

Genomics for MNAT1 Gene

Regulatory Elements for MNAT1 Gene

Enhancers for MNAT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G060640 2.1 VISTA Ensembl ENCODE dbSUPER 10.6 -84.6 -84558 19.2 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 C14orf39 SIX4 TMEM30B MNAT1 SIX6 RNU6-398P PPM1A SLC38A6 LOC105378189 SIX1
GH14G060720 1.4 FANTOM5 ENCODE 13.6 -12.0 -12011 4.6 HNRNPUL1 PKNOX1 FOXA2 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B MNAT1 PCNX4 TRMT5 RTN1 PPM1A GC14M060376 SIX4
GH14G060756 0.9 Ensembl ENCODE 11.2 +23.2 23180 3.6 JUN CEBPB EP300 ZBTB40 JUND PRDM6 STAT3 KDM1A RCOR1 FOS SLC38A6 MNAT1 SIX4 TRMT5 MAD2L1P1
GH14G060819 0.9 ENCODE 10.6 +85.0 85027 0.2 FOXA2 THRB RAD21 RARA YY1 CREM MIXL1 ZNF654 CEBPB KAT8 MNAT1 SLC38A6 MAD2L1P1 ENSG00000258892
GH14G060760 0.7 ENCODE 11.2 +26.3 26336 2.0 TEAD4 CEBPG FEZF1 CHD7 GATA3 POLR2A FOSL2 FOS MAFK RFX1 MNAT1 SIX4 SLC38A6 TRMT5 MAD2L1P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MNAT1 on UCSC Golden Path with GeneCards custom track

Promoters for MNAT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000069259 860 2400 PKNOX1 CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for MNAT1 Gene

Chromosome:
14
Start:
60,734,741 bp from pter
End:
60,969,953 bp from pter
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

Suggested Antigen Peptide Sequences for MNAT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MNAT1: view

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

Function for MNAT1 Gene

Molecular function for MNAT1 Gene

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
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.

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 carboxy-terminal domain 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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 5

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 holo TFIIH complex IDA 9852112
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with MNAT1: view

Pathways & Interactions for MNAT1 Gene

SuperPathways for MNAT1 Gene

SuperPathway Contained pathways
1 Formation of HIV elongation complex in the absence of HIV Tat
2 RNA Polymerase II Transcription Initiation And Promoter Clearance
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

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 TAS 8521818
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0006281 DNA repair TAS 8521818
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
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

Unigene Clusters for MNAT1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
MNAT1

Expression for MNAT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for MNAT1 Gene



Protein tissue co-expression partners for MNAT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MNAT1 Gene:

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

Primer Products

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 34 35
  • 99.78 (n)
oppossum
(Monodelphis domestica)
Mammalia MNAT1 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MNAT1 34 35
  • 94.5 (n)
cow
(Bos Taurus)
Mammalia MNAT1 34 35
  • 94.17 (n)
rat
(Rattus norvegicus)
Mammalia Mnat1 34
  • 88.2 (n)
mouse
(Mus musculus)
Mammalia Mnat1 34 16 35
  • 87.01 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MNAT1 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves MNAT1 34 35
  • 81.12 (n)
lizard
(Anolis carolinensis)
Reptilia MNAT1 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mnat1 34
  • 74.24 (n)
Str.6295 34
African clawed frog
(Xenopus laevis)
Amphibia mnat1-prov 34
zebrafish
(Danio rerio)
Actinopterygii mnat1 34 35
  • 66.99 (n)
fruit fly
(Drosophila melanogaster)
Insecta Mat1 36 34 35
  • 54.93 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008991 34
  • 53.51 (n)
worm
(Caenorhabditis elegans)
Secernentea mnat-1 34 35
  • 47.32 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C14872g 34
  • 56.74 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TFB3 34 35 37
  • 47.87 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR202C 34
  • 45.41 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pmh1 34
  • 46.3 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02587 34
  • 41.58 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10583 35
  • 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)

Paralogs for MNAT1 Gene

No data available for Paralogs for MNAT1 Gene

Variants for MNAT1 Gene

Sequence variations from dbSNP and Humsavar for MNAT1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000028630 -- 60,905,557(+) GTATA(A/C)CTCAC intron-variant
rs1000045006 -- 60,853,816(+) TTTTT(G/T)TCATT intron-variant
rs1000053753 -- 60,823,324(+) GGGGA(C/T)TGGGG intron-variant
rs1000056995 -- 60,919,320(+) TATTT(A/C)AGTTA intron-variant
rs1000102149 -- 60,763,771(+) ATAAT(A/T)TAATA intron-variant

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)

Relevant External Links for MNAT1 Gene

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

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

Disorders for MNAT1 Gene

Relevant External Links for MNAT1

Genetic Association Database (GAD)
MNAT1
Human Genome Epidemiology (HuGE) Navigator
MNAT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MNAT1

No disorders were found for MNAT1 Gene.

No data available for MalaCards , 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 2007) 3 22 46 64
  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. (J. Biol. Chem. 2001) 3 4 22 64
  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 22 64
  4. Molecular cloning of CDK7-associated human MAT1, a cyclin-dependent kinase-activating kinase (CAK) assembly factor. (PMID: 8521393) Yee A. … Xiong Y. (Cancer Res. 1995) 3 4 22 64
  5. In vitro assembly of a functional human CDK7-cyclin H complex requires MAT1, a novel 36 kDa RING finger protein. (PMID: 8521818) Tassan J.-P. … Nigg E.A. (EMBO J. 1995) 3 4 22 64

Products for MNAT1 Gene

Sources for MNAT1 Gene

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