MNAT1 MNAT1 component of CDK activating kinase [Homo sapiens (human)] - Gene

Summary

Official Symbol: MNAT1provided by HGNC
Official Full Name: MNAT1 component of CDK activating kinaseprovided by HGNC
Primary source: HGNC:HGNC:7181
See related: Ensembl:ENSG00000020426 MIM:602659; AllianceGenome:HGNC:7181
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: mouse all
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Genomic context

Location:: 14q23.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (60734761..60969965)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (54941243..55176505)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (61201479..61436683)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Potentially functional variants in nucleotide excision repair pathway genes predict platinum treatment response of Chinese ovarian cancer patients.
Title: Potentially functional variants in nucleotide excision repair pathway genes predict platinum treatment response of Chinese ovarian cancer patients.
The regulatory effect of has-circ-0001146/miR-26a-5p/MNAT1 network on the proliferation and invasion of osteosarcoma.
Title: The regulatory effect of has-circ-0001146/miR-26a-5p/MNAT1 network on the proliferation and invasion of osteosarcoma.
Study presents the high-resolution crystal structure of the Arch domain of XPD with its interaction partner MAT1, a central component of the CDK activating kinase complex. The analysis of the interface led to the identification of amino acid residues that are crucial for the MAT1-XPD interaction.
Title: In TFIIH the Arch domain of XPD is mechanistically essential for transcription and DNA repair.
MAT1 serves as a promoter in the lung metastasis of osteosarcoma through increasing AKT1 expression.
Title: MAT1 facilitates the lung metastasis of osteosarcoma through upregulation of AKT1 expression.
Expressions of components of the CAK complex, CDK7, MAT1, and Cyclin H are elevated in breast cancer.
Title: Expression of CDK7, Cyclin H, and MAT1 Is Elevated in Breast Cancer and Is Prognostic in Estrogen Receptor-Positive Breast Cancer.
The intrinsically programmed MAT1 expression and fragmentation regulate granulopoiesis.
Title: The lost intrinsic fragmentation of MAT1 protein during granulopoiesis promotes the growth and metastasis of leukemic myeloblasts.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association. (HuGE Navigator)
Title: Variation within DNA repair pathway genes and risk of multiple sclerosis.
Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
Title: Polymorphisms of CAK genes and risk for lung cancer: a case-control study in Chinese population.
These results suggested that genetic variants in CAK genes, Cdk7, cyclin H, MAT1, might modulate the risk of lung cancer in a gene-gene interaction mode, which consist to the biochemical interaction of corresponding proteins.
Title: Polymorphisms of CAK genes and risk for lung cancer: a case-control study in Chinese population.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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

EBI GWAS Catalog

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH45647 (e-PCR)
- UniSTS:73016

RH70941 (e-PCR)
- UniSTS:50240

RH70690 (e-PCR)
- UniSTS:50241

RH65471 (e-PCR)
- UniSTS:38983

G67480 (e-PCR)
- UniSTS:186721

G67481 (e-PCR)
- UniSTS:186722

G67482 (e-PCR)
- UniSTS:186723

D14S1166 (e-PCR)
- UniSTS:52333

GDB:451562 (e-PCR)
- UniSTS:157311

D14S592 (e-PCR), detects polymorphism
- UniSTS:78229

RH47826 (e-PCR)
- UniSTS:66208

RH80245 (e-PCR)
- UniSTS:89789

D7S2425 (e-PCR), detects polymorphism
- UniSTS:21714

RH69606 (e-PCR)
- UniSTS:30690

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cyclin-dependent protein serine/threonine kinase activator activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in G1/S transition of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in adult heart development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in nucleotide-excision repair	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in regulation of G1/S transition of mitotic 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
involved_in regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to calcium ion	IEA Inferred from Electronic Annotation more info
involved_in transcription initiation at RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed
involved_in ventricular system development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of CAK-ERCC2 complex	IDA Inferred from Direct Assay more info	PubMed
part_of cyclin-dependent protein kinase activating kinase holoenzyme complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of transcription factor TFIIH core complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription factor TFIIH holo complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription factor TFIIH holo complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription factor TFIIK complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: CDK-activating kinase assembly factor MAT1

Names: CDK7/cyclin-H assembly factor; MNAT CDK-activating kinase assembly factor 1; MNAT1, CDK activating kinase assembly factor; 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)

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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.

mRNA and Protein(s)

NM_001177963.2 → NP_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)

AL160236, BC000820, CD701743, U61835

Consensus CDS

CCDS53899.1

Related

ENSP00000446437.2, ENST00000539616.6

Conserved Domains (1) summary

TIGR00570
Location:1 → 267

cdk7; CDK-activating kinase assembly factor MAT1
NM_002431.4 → NP_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

G3V1U8, P51948, Q15817, Q6ICQ7

UniProtKB/TrEMBL

A0A024R688

Related

ENSP00000261245.4, ENST00000261245.9

Conserved Domains (1) summary

TIGR00570
Location:1 → 309

cdk7; CDK-activating kinase assembly factor MAT1

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_000014.9 Reference GRCh38.p14 Primary Assembly

Range

60734761..60969965

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005267688.4 → XP_005267745.1 CDK-activating kinase assembly factor MAT1 isoform X2

See identical proteins and their annotated locations for XP_005267745.1

Conserved Domains (2) summary

pfam06391
Location:53 → 250

MAT1; CDK-activating kinase assembly factor MAT1

cl17238
Location:3 → 50

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 ...
XM_017021332.3 → XP_016876821.1 CDK-activating kinase assembly factor MAT1 isoform X1
XM_047431413.1 → XP_047287369.1 CDK-activating kinase assembly factor MAT1 isoform X3
XM_017021334.3 → XP_016876823.1 CDK-activating kinase assembly factor MAT1 isoform X3

UniProtKB/TrEMBL

H0YJ92

Related

ENSP00000451017.1, ENST00000557134.1

Conserved Domains (1) summary

cl26974
Location:1 → 188

MAT1; CDK-activating kinase assembly factor MAT1

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

54941243..55176505

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054376120.1 → XP_054232095.1 CDK-activating kinase assembly factor MAT1 isoform X2
XM_054376119.1 → XP_054232094.1 CDK-activating kinase assembly factor MAT1 isoform X1
XM_054376122.1 → XP_054232097.1 CDK-activating kinase assembly factor MAT1 isoform X3
XM_054376121.1 → XP_054232096.1 CDK-activating kinase assembly factor MAT1 isoform X3