TENT4A (terminal nucleotidyltransferase 4A)

Gene

• Entrez ID: 11044
• Gene name: Terminal nucleotidyltransferase 4A
• Gene symbol: TENT4A
• Synonyms (NCBI Gene): LAK-1, LAK1, PAPD7, POLK, POLS, TRF4, TRF4-1, TRF41, TUTASE5
• Chromosome: 5
• Chromosome location: 5p15.31
• Summary: The protein encoded by this gene is a DNA polymerase that is likely involved in DNA repair. In addition, the encoded protein may be required for sister chromatid adhesion. Alternatively spliced transcript variants that encode different isoforms have been

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	10066793
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005730	Component	Nucleolus	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0006302	Process	Double-strand break repair	NAS	10066793
GO:0006397	Process	MRNA processing	IEA
GO:0007062	Process	Sister chromatid cohesion	TAS	10066793
GO:0007076	Process	Mitotic chromosome condensation	NAS	10066793
GO:0009410	Process	Response to xenobiotic stimulus	IDA	10066793
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0031123	Process	RNA 3'-end processing	IBA
GO:0031499	Component	TRAMP complex	IBA
GO:0031965	Component	Nuclear membrane	IDA
GO:0043221	Function	SMC family protein binding	TAS	10066793
GO:0043634	Process	Polyadenylation-dependent ncRNA catabolic process	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0060212	Process	Negative regulation of nuclear-transcribed mRNA poly(A) tail shortening	IEA
GO:0060212	Process	Negative regulation of nuclear-transcribed mRNA poly(A) tail shortening	IMP	30026317
GO:0070568	Function	Guanylyltransferase activity	IEA
GO:0070568	Function	Guanylyltransferase activity	IMP	30026317
GO:1905870	Process	Positive regulation of 3'-UTR-mediated mRNA stabilization	IEA
GO:1905870	Process	Positive regulation of 3'-UTR-mediated mRNA stabilization	IMP	30026317
GO:1990817	Function	Poly(A) RNA polymerase activity	IBA
GO:1990817	Function	Poly(A) RNA polymerase activity	IEA

Other IDs

• MIM: 605198
• HGNC: 16705
• e!Ensembl: ENSG00000112941

Protein

• UniProt ID: Q5XG87
• Protein name: Terminal nucleotidyltransferase 4A (DNA polymerase sigma) (LAK-1) (Non-canonical poly(A) RNA polymerase PAPD7) (EC 2.7.7.19) (PAP-associated domain-containing protein 7) (TRAMP-like complex polyadenylate polymerase) (Terminal guanylyltransferase) (EC 2.7.
• Protein function: Terminal nucleotidyltransferase that catalyzes preferentially the transfer of ATP and GTP on RNA 3' poly(A) tail creating a heterogeneous 3' poly(A) tail leading to mRNAs stabilization by protecting mRNAs from active deadenylation (PubMed:233760
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01909	NTP_transf_2	245 → 354	Nucleotidyltransferase domain	Family
  PF03828	PAP_assoc	408 → 468	Cid1 family poly A polymerase	Family

• Sequence:

  MQIWETSQGVGRGGSGFASYFCLNSPALDTAAAAGAAGRGSGGLGPALPAASPPPPGPTA
  PAALPPALLTALGPAAEGARRLHKSPSLSSSSSSSSSNAESGTESPGCSSSSSSSASLGR
  PGGGRGGAFFNFADGAPSAPGTANGHPGPRGPAPAGSPSQHQFHPGRRKRENKASTYGLN
  YLLSGSRAAALSGGGGPGAQAPRPGTPWKSRAYSPGIQGLHEEIIDFYNFMSPCPEEAAM
  RREVVKRIETVVKDLWPTADVQIFGSFSTGLYLPTSDIDLVVFGKWERPPLQLLEQALRK
  HNVAEPCSIKVLDKATVPIIKLTDQETEVKVDISFNMETGVRAAEFIKNYMKKYSLLPYL
  ILVLKQFLLQRDLNEVFTGGISSYSLILMAISFLQLHPRIDARRADENLGMLLVEFFELY
  GRNFNYLKTGIRIKEGGAYIAKEEIMKAMTSGYRPSMLCIEDPLLPGNDVGRSSYGAMQV
  KQVFDYAYIVLSHAVSPLARSYPNRDAESTLGRIIKVTQEVIDYRRWIKEKWGSKAHPSP
  GMDSRIKIKERIATCNGEQTQNREPESPYGQRLTLSLSSPQLLSSGSSASSVSSLSGSDV
  DSDTPPCTTPSVYQFSLQAPAPLMAGLPTALPMPSGKPQPTTSRTLIMTTNNQTRFTIPP
  PTLGVAPVPCRQAGVEGTASLKAVHHMSSPAIPSASPNPLSSPHLYHKQHNGMKLSMKGS
  HGHTQGGGYSSVGSGGVRPPVGNRGHHQYNRTGWRRKKHTHTRDSLPVSLSR

• Sequence length: 772

Pathways

KEGG:

RNA degradation

Reactome:

Signaling by BRAF and RAF fusions

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
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	26765445		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12036445		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11454676, 15202001		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	18559093		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	18559093		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17099721		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	31294882		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskeratosis Congenita	Dyskeratosis congenita	Pubtator	32559291	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26651356, 31082191		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26651356, 31082191		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31595696		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	32559291	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26765445		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11454676, 15202001, 15665310		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	18559093		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	3598463	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33746573	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	18559093	Associate	★☆☆☆☆ Found in Text Mining only