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MNAT1 MNAT1, CDK activating kinase assembly factor [ Homo sapiens (human) ]

Gene ID: 4331, updated on 9-Dec-2018

Summary

Official Symbol
MNAT1provided by HGNC
Official Full Name
MNAT1, CDK activating kinase assembly factorprovided by HGNC
Primary source
HGNC:HGNC:7181
See related
Ensembl:ENSG00000020426 MIM:602659
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
MAT1; TFB3; CAP35; RNF66
Summary
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]
Expression
Ubiquitous expression in fat (RPKM 3.3), prostate (RPKM 3.0) and 25 other tissues See more
Orthologs

Genomic context

See MNAT1 in Genome Data Viewer
Location:
14q23.1
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (60734735..60969881)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (61201459..61435398)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1602 Neighboring gene SIX homeobox 4 Neighboring gene mitotic arrest deficient 2 like 1 pseudogene 1 Neighboring gene spermidine synthase pseudogene 2 Neighboring gene RNA, U6 small nuclear 398, pseudogene Neighboring gene solute carrier family 38 member 6 Neighboring gene tRNA methyltransferase 5 Neighboring gene uncharacterized LOC101927756

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Interaction of HIV-1 Tat with TFIIH stimulates phosphorylation of Ser-5 of the RNA polymerase II C-terminal domain (CTD), which in turn also stimulates co-transcriptional capping of HIV-1 mRNA PubMed
tat TFIIH interacts with HIV-1 Tat as a component of the HIV-1 transcription preinitiation complex, but is released from the elongation complex which includes P-TEFb PubMed
tat CAK/TFIIH is required for HIV-1 Tat-mediated transactivation of the HIV-1 LTR promoter PubMed
tat TFIIH synergizes with HIV-1 Tat to induce transcription elongation from the HIV-1 LTR promoter PubMed
tat Amino acids 1-48 of HIV-1 Tat, which includes the Tat activation domain, mediate the binding of Tat to CAK and the TFIIH complex through a direct interaction with CDK7 and possibly other TFIIH subunits, including p62 and ERCC3 PubMed
tat HIV-1 Tat interacts with the RNA polymerase II holoenzyme and transcription preinitiation complexes, which include TFIIH, during Tat-mediated transactivation of the HIV-1 LTR PubMed
Vpr vpr As a component of the TFIIH transcription complex, MAT1 inhibits HIV-1 Vpr cell cycle-arresting function PubMed
vpr As a component of the TFIIH transcription complex, MAT1 enhances the synergistic activation of glucocorticoid receptor by HIV-1 Vpr and p300 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to DNA-dependent ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to RNA polymerase II CTD heptapeptide repeat kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
cyclin-dependent protein serine/threonine kinase activator activity IEA
Inferred from Electronic Annotation
more info
 
protein N-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
7-methylguanosine mRNA capping TAS
Traceable Author Statement
more info
 
DNA repair TAS
Traceable Author Statement
more info
PubMed 
G1/S transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
adult heart development IEA
Inferred from Electronic Annotation
more info
 
cell proliferation TAS
Traceable Author Statement
more info
PubMed 
negative regulation of DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
nucleotide-excision repair, preincision complex assembly TAS
Traceable Author Statement
more info
 
positive regulation of cyclin-dependent protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of smooth muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex assembly TAS
Traceable Author Statement
more info
PubMed 
regulation of cyclin-dependent protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
response to calcium ion IEA
Inferred from Electronic Annotation
more info
 
termination of RNA polymerase I transcription TAS
Traceable Author Statement
more info
 
transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
transcription elongation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
transcription initiation from RNA polymerase I promoter TAS
Traceable Author Statement
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
transcription-coupled nucleotide-excision repair TAS
Traceable Author Statement
more info
 
ventricular system development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cyclin-dependent protein kinase activating kinase holoenzyme complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
transcription factor TFIIH holo complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor TFIIH holo complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
CDK-activating kinase assembly factor MAT1
Names
CDK7/cyclin-H assembly factor
MNAT CDK-activating kinase assembly factor 1
RING finger protein 66
RING finger protein MAT1
cyclin G1 interacting protein
menage a trois 1 (CAK assembly factor)
menage a trois homolog 1, cyclin H assembly factor
menage a trois-like protein 1 cyclin H assembly factor

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001177963.1NP_001171434.1  CDK-activating kinase assembly factor MAT1 isoform 2

    See identical proteins and their annotated locations for NP_001171434.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
    Source sequence(s)
    BC000820, CD701743, U61835
    Consensus CDS
    CCDS53899.1
    UniProtKB/Swiss-Prot
    P51948
    UniProtKB/TrEMBL
    A0A024R669
    Related
    ENSP00000446437.2, ENST00000539616.6
    Conserved Domains (1) summary
    TIGR00570
    Location:1267
    cdk7; CDK-activating kinase assembly factor MAT1
  2. NM_002431.4NP_002422.1  CDK-activating kinase assembly factor MAT1 isoform 1

    See identical proteins and their annotated locations for NP_002422.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL160236, BC000820, CD701743
    Consensus CDS
    CCDS9750.1
    UniProtKB/Swiss-Prot
    P51948
    UniProtKB/TrEMBL
    A0A024R688
    Related
    ENSP00000261245.4, ENST00000261245.8
    Conserved Domains (1) summary
    TIGR00570
    Location:1309
    cdk7; CDK-activating kinase assembly factor MAT1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    60734735..60969881
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021333.2XP_016876822.1  CDK-activating kinase assembly factor MAT1 isoform X4

    Conserved Domains (1) summary
    cl26974
    Location:1188
    MAT1; CDK-activating kinase assembly factor MAT1
  2. XM_005267688.3XP_005267745.1  CDK-activating kinase assembly factor MAT1 isoform X3

    See identical proteins and their annotated locations for XP_005267745.1

    Conserved Domains (2) summary
    pfam06391
    Location:53250
    MAT1; CDK-activating kinase assembly factor MAT1
    cl17238
    Location:350
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
  3. XM_005267687.3XP_005267744.1  CDK-activating kinase assembly factor MAT1 isoform X1

    See identical proteins and their annotated locations for XP_005267744.1

    UniProtKB/Swiss-Prot
    P51948
    UniProtKB/TrEMBL
    A0A024R688
    Conserved Domains (1) summary
    TIGR00570
    Location:1309
    cdk7; CDK-activating kinase assembly factor MAT1
  4. XM_017021332.2XP_016876821.1  CDK-activating kinase assembly factor MAT1 isoform X2

  5. XM_024449599.1XP_024305367.1  CDK-activating kinase assembly factor MAT1 isoform X4

    Conserved Domains (1) summary
    cl26974
    Location:1188
    MAT1; CDK-activating kinase assembly factor MAT1
  6. XM_017021334.2XP_016876823.1  CDK-activating kinase assembly factor MAT1 isoform X4

    Related
    ENSP00000451017.1, ENST00000557134.1
    Conserved Domains (1) summary
    cl26974
    Location:1188
    MAT1; CDK-activating kinase assembly factor MAT1
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