Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	64852
Gene name	Terminal uridylyl transferase 1, U6 snRNA-specific
Gene symbol	TUT1
Synonyms (NCBI Gene)	PAPD2RBM21STARPAPTENT1TUTaseURLC6
Chromosome	11
Chromosome location	11q12.3
Summary	This gene encodes a nucleotidyl transferase that functions as both a terminal uridylyltransferase and a nuclear poly(A) polymerase. The encoded enzyme specifically adds and removes nucleotides from the 3` end of small nuclear RNAs and select mRNAs and may

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SNP ID	Visualize variation	Clinical significance	Consequence
rs765227276	C>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT052175	hsa-let-7b-5p	CLASH	23622248
MIRT051822	hsa-let-7c-5p	CLASH	23622248
MIRT051006	hsa-miR-17-5p	CLASH	23622248
MIRT050682	hsa-miR-18a-5p	CLASH	23622248
MIRT050079	hsa-miR-26a-5p	CLASH	23622248
MIRT049257	hsa-miR-92a-3p	CLASH	23622248
MIRT049257	hsa-miR-92a-3p	CLASH	23622248
MIRT048804	hsa-miR-93-5p	CLASH	23622248
MIRT047106	hsa-miR-183-5p	CLASH	23622248
MIRT044890	hsa-miR-193a-3p	CLASH	23622248
MIRT043733	hsa-miR-342-3p	CLASH	23622248
MIRT043287	hsa-miR-331-3p	CLASH	23622248
MIRT043234	hsa-miR-324-5p	CLASH	23622248
MIRT042330	hsa-miR-484	CLASH	23622248
MIRT041400	hsa-miR-193b-3p	CLASH	23622248
MIRT041096	hsa-miR-503-5p	CLASH	23622248
MIRT040835	hsa-miR-18a-3p	CLASH	23622248
MIRT040835	hsa-miR-18a-3p	CLASH	23622248
MIRT040322	hsa-miR-615-3p	CLASH	23622248
MIRT038808	hsa-miR-93-3p	CLASH	23622248
MIRT038622	hsa-miR-129-2-3p	CLASH	23622248
MIRT036023	hsa-miR-1301-3p	CLASH	23622248

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IDA	18288197
GO:0003723	Function	RNA binding	IEA
GO:0003730	Function	MRNA 3'-UTR binding	IDA	21102410
GO:0005515	Function	Protein binding	IPI	18288197, 21102410, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	32839293
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA	16790842
GO:0005730	Component	Nucleolus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005847	Component	MRNA cleavage and polyadenylation specificity factor complex	IDA	18305108, 21102410
GO:0006397	Process	MRNA processing	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016180	Process	SnRNA processing	IMP	16790842
GO:0016607	Component	Nuclear speck	IBA
GO:0016607	Component	Nuclear speck	IDA	18288197, 18305108
GO:0016607	Component	Nuclear speck	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0017070	Function	U6 snRNA binding	IDA	28589955
GO:0019899	Function	Enzyme binding	IPI	18305108
GO:0031123	Process	RNA 3'-end processing	IBA
GO:0031123	Process	RNA 3'-end processing	IEA
GO:0031124	Process	MRNA 3'-end processing	IMP	18288197
GO:0034477	Process	U6 snRNA 3'-end processing	IDA	28589955
GO:0046872	Function	Metal ion binding	IEA
GO:0050265	Function	RNA uridylyltransferase activity	IDA	16790842, 18288197, 28589955
GO:0050265	Function	RNA uridylyltransferase activity	IEA
GO:0051252	Process	Regulation of RNA metabolic process	IDA	32839293
GO:0071044	Process	Histone mRNA catabolic process	IMP	18172165
GO:0140767	Function	Enzyme-substrate adaptor activity	IDA	21102410
GO:0180010	Process	Co-transcriptional mRNA 3'-end processing, cleavage and polyadenylation pathway	IDA	21102410
GO:1990817	Function	Poly(A) RNA polymerase activity	IBA
GO:1990817	Function	Poly(A) RNA polymerase activity	IDA	18288197, 28589955
GO:1990817	Function	Poly(A) RNA polymerase activity	IEA

MIM	HGNC	e!Ensembl
610641	26184	ENSG00000149016

Q9H6E5

Protein name

Speckle targeted PIP5K1A-regulated poly(A) polymerase (Star-PAP) (EC 2.7.7.19) (RNA-binding motif protein 21) (RNA-binding protein 21) (U6 snRNA-specific terminal uridylyltransferase 1) (U6-TUTase) (EC 2.7.7.52)

Protein function

Poly(A) polymerase that creates the 3'-poly(A) tail of specific pre-mRNAs (PubMed:18288197, PubMed:21102410). Localizes to nuclear speckles together with PIP5K1A and mediates polyadenylation of a select set of mRNAs, such as HMOX1 (PubMed:182881

PDB

2E5G , 5WU1 , 5WU2 , 5WU3 , 5WU4 , 5WU5 , 5WU6 , 8IDF , 9J8P

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12874	zf-met	16 → 40		Domain
PF00076	RRM_1	58 → 122	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
PF19088	TUTase	340 → 458		Domain
PF03828	PAP_assoc	490 → 549	Cid1 family poly A polymerase	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:18288197}.

Sequence

MAAVDSDVESLPRGGFRCCLCHVTTANRPSLDAHLGGRKHRHLVELRAARKAQGLRSVFV
SGFPRDVDSAQLSEYFLAFGPVASVVMDKDKGVFAIVEMGDVGAREAVLSQSQHSLGGHR
LRVRPREQKEFQSPASKSPKGAAPDSHQLAKALAEAADVGAQMIKLVGLRELSEAERQLR
SLVVALMQEVFTEFFPGCVVHPFGSSINSFDVHGCDLDLFLDLGDLEEPQPVPKAPESPS
LDSALASPLDPQALACTPASPPDSQPPASPQDSEALDFETPSSSLAPQTPDSALASETLA
SPQSLPPASPLLEDREEGDLGKASELAETPKEEKAEGAAMLELVGSILRGCVPGVYRVQT
VPSARRPVVKFCHRPSGLHGDVSLSNRLALHNSRFLSLCSELDGRVRPLVYTLRCWAQGR
GLSGSGPLLSNYALTLLVIYFLQTRDPPVLPTVSQLTQKAGEGEQVEVDGWDCSFPRDAS
RLEPSINVEPLSSLLAQFFSCVSCWDLRGSLLSLREGQALPVAGGLPSNLWEGLRLGPLN
LQDPFDLSHNVAANVTSRVAGRLQNCCRAAANYCRSLQYQRRSSRGRDWGLLPLLQPSSP
SSLLSATPIPLPLAPFTQLTAALVQVFREALGCHIEQATKRTRSEGGGTGESSQGGTSKR
LKVDGQKNCCEEGKEEQQGCAGDGGEDRVEEMVIEVGEMVQDWAMQSPGQPGDLPLTTGK
HGAPGEEGQPSHAALAERGPKGHEAAQEWSQGEAGKGASLPSSASWRCALWHRVWQGRRR
ARRRLQQQTKEGAGGGAGTRAGWLATEAQVTQELKGLSGGEERPETEPLLSFVASVSPAD
RMLTVTPLQDPQGLFPDLHHFLQVFLPQAIRHLK

Sequence length

874

Interactions

View interactions

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic	rs765227276	RCV000454332	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (9)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	28151486, 29203642, 31649118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29203642	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	31162284	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28151486, 29203642, 31649118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26786754, 29203642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25142229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	25142229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	25142229	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	29032201		★★★★★ ★☆☆☆☆ Found in Text Mining only

TUT1 (terminal uridylyl transferase 1, U6 snRNA-specific)