MNAT1 (MNAT1 component of CDK activating kinase)

Gene

• Entrez ID: 4331
• Gene name: MNAT1 component of CDK activating kinase
• Gene symbol: MNAT1
• Synonyms (NCBI Gene): CAP35, MAT1, RNF66, TFB3
• Chromosome: 14
• Chromosome location: 14q23.1
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029383	hsa-miR-26b-5p	Microarray	19088304
MIRT1153854	hsa-miR-1236	CLIP-seq
MIRT1153855	hsa-miR-1245b-3p	CLIP-seq
MIRT1153856	hsa-miR-2467-5p	CLIP-seq
MIRT1153857	hsa-miR-3183	CLIP-seq
MIRT1153858	hsa-miR-3188	CLIP-seq
MIRT1153859	hsa-miR-3975	CLIP-seq
MIRT1153860	hsa-miR-4723-3p	CLIP-seq
MIRT1153861	hsa-miR-485-5p	CLIP-seq
MIRT1153862	hsa-miR-889	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MTA1	Unknown	12527756
YBX1	Repression	20596676

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000082	Process	G1/S transition of mitotic cell cycle	IEA
GO:0000307	Component	Cyclin-dependent protein kinase holoenzyme complex	IDA	23622515
GO:0000439	Component	Transcription factor TFIIH core complex	IDA	8692841
GO:0005515	Function	Protein binding	IPI	8692842, 10801852, 11445587, 26871637, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005675	Component	Transcription factor TFIIH holo complex	IBA
GO:0005675	Component	Transcription factor TFIIH holo complex	IDA	9852112
GO:0005675	Component	Transcription factor TFIIH holo complex	IEA
GO:0006281	Process	DNA repair	IBA
GO:0006289	Process	Nucleotide-excision repair	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	9852112, 10801852
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IMP	8692842
GO:0006367	Process	Transcription initiation at RNA polymerase II promoter	IDA	8692841
GO:0007512	Process	Adult heart development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	TAS	8521818
GO:0021591	Process	Ventricular system development	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	IEA
GO:0051592	Process	Response to calcium ion	IEA
GO:0061575	Function	Cyclin-dependent protein serine/threonine kinase activator activity	IEA
GO:0070516	Component	CAK-ERCC2 complex	IDA	8692841
GO:0070985	Component	Transcription factor TFIIK complex	IDA	8692841
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	IDA	23622515

Other IDs

• MIM: 602659
• HGNC: 7181
• e!Ensembl: ENSG00000020426

Protein

• UniProt ID: P51948
• Protein name: CDK-activating kinase assembly factor MAT1 (CDK7/cyclin-H assembly factor) (Cyclin-G1-interacting protein) (Menage a trois) (RING finger protein 66) (RING finger protein MAT1) (p35) (p36)
• Protein 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 tr
• PDB: 1G25, 6NMI, 6O9L, 6O9M, 6TUN, 6XBZ, 6XD3, 7B5O, 7B5Q, 7EGB, 7EGC, 7ENA, 7ENC, 7LBM, 7NVR, 7NVW, 7NVX, 7NVY, 7NVZ, 7NW0, 8BVW, 8BYQ, 8GXQ, 8GXS, 8ORM, 8P6V, 8P6W, 8P6X, 8P6Y, 8P6Z, 8P70, 8P71, 8P72, 8P73, 8P74, 8P75, 8P76, 8P77, 8P78, 8P79, 8P7L, 8PLZ, 8PYR, 8S0R, 8S0T, 8WAK, 8WAL, 8WAN, 8WAO, 8WAP, 8WAQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17121	zf-C3HC4_5	3 → 51	Zinc finger, C3HC4 type (RING finger)	Domain
  PF06391	MAT1	53 → 250	CDK-activating kinase assembly factor MAT1	Family

• Tissue specificity: 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.
• Sequence:

  MDDQGCPRCKTTKYRNPSLKLMVNVCGHTLCESCVDLLFVRGAGNCPECGTPLRKSNFRV
  QLFEDPTVDKEVEIRKKVLKIYNKREEDFPSLREYNDFLEEVEEIVFNLTNNVDLDNTKK
  KMEIYQKENKDVIQKNKLKLTREQEELEEALEVERQENEQRRLFIQKEEQLQQILKRKNK
  QAFLDELESSDLPVALLLAQHKDRSTQLEMQLEKPKPVKPVTFSTGIKMGQHISLAPIHK
  LEEALYEYQPLQIETYGPHVPELEMLGRLGYLNHVRAASPQDLAGGYTSSLACHRALQDA
  FSGLFWQPS

• Sequence length: 309

Pathways

KEGG:

Basal transcription factors
Nucleotide excision repair

Reactome:

Formation of RNA Pol II elongation complex
Formation of the Early Elongation Complex
Formation of Incision Complex in GG-NER
RNA Polymerase II Pre-transcription Events
Formation of TC-NER Pre-Incision Complex
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
TP53 Regulates Transcription of DNA Repair Genes
Cyclin E associated events during G1/S transition
Cyclin D associated events in G1
Cyclin A/B1/B2 associated events during G2/M transition
Cyclin A:Cdk2-associated events at S phase entry
mRNA Capping
RNA Polymerase I Transcription Initiation
RNA Polymerase I Promoter Escape
RNA Polymerase II Promoter Escape
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
RNA Polymerase I Transcription Termination
RNA Polymerase II Transcription Initiation
RNA Polymerase II Transcription Elongation
RNA Polymerase II Transcription Initiation And Promoter Clearance
RNA Pol II CTD phosphorylation and interaction with CE
RUNX1 regulates transcription of genes involved in differentiation of HSCs

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	BEFREE	30754662		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	15917097		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	28912154		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	21825040		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	28810353		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	11228158		★☆☆☆☆ Found in Text Mining only
Bare Lymphocyte Syndrome	Bare Lymphocyte Syndrome	BEFREE	9190936		★☆☆☆☆ Found in Text Mining only
Bare lymphocyte syndrome 2	Bare Lymphocyte Syndrome	BEFREE	9190936		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	18205865		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	11461077, 11536309		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27301701		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27301701	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	30477538	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17707548, 22696682		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20603238		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	11536309		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	17493033, 30158515		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	21544067		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30477538		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30477538, 34862210	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	10398839, 11118734, 21508684, 9502407		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10567346		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10567346		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10593565, 12496451		★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	14553951		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	30170442		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	28912154		★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	18075258		★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	15175076		★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	BEFREE	10712583		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	29731755		★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	BEFREE	18588867		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	BEFREE	10712583		★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	28196356		★☆☆☆☆ Found in Text Mining only
Hepatic methionine adenosyltransferase deficiency	Hepatic Methionine Adenosyltransferase Deficiency	BEFREE	8770875		★☆☆☆☆ Found in Text Mining only
Hermaphroditism	Hermaphroditism	BEFREE	29971754		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	25262960		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	31715265		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	24994465		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	8656012		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	21544067		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	10398839		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26469698		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	8862592		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	18598937		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12547161		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	2160596, 7542850		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17707548		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	31421084		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	8557639		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	8557639		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	10525320, 11014347, 12472178, 8557639		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	8557639		★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	BEFREE	12153001		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	12153001		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	12153001		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	11536309		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27301701		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17707548, 22696682		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	20603238		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21825040, 31472403		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11536309		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11522620, 12547161, 20181942, 20603238, 27301701, 30477538, 31414610		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	17145757		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	26469698		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	15009685		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10616197, 11358987, 11461077, 11536309, 12460909, 12547161, 16763609, 16823838, 20603238, 28640256, 30477538, 7700633		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	21338355		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10616197, 15485494, 7700633		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	15307952, 17979810, 21844361, 24725413		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	7738588		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	16525053		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	27301701		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	11672768, 20181942, 31421084		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	20603238		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	21825040, 31472403		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	21825040		★☆☆☆☆ Found in Text Mining only
Paratuberculosis	Paratuberculosis	BEFREE	10398839, 11118734		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	18588867		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11536309, 15123618		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	29802736		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	31317786, 31788758		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25697137		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	8862592		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21772061		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	25878277		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	29535807		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	22612807		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	10398839		★☆☆☆☆ Found in Text Mining only
X-Linked Lissencephaly	Lissencephaly, X-Linked	BEFREE	10826984		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum	BEFREE	23382212		★☆☆☆☆ Found in Text Mining only