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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	23293
Gene name Gene Name - the full gene name approved by the HGNC.	SMG6 nonsense mediated mRNA decay factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SMG6
Synonyms (NCBI Gene) Gene synonyms aliases	C17orf31, EST1A, SMG-6, hEST1A, hSMG5/7a
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17p13.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclea

Show/Hide all(209)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029580	hsa-miR-26b-5p	Microarray	19088304
MIRT048902	hsa-miR-93-5p	CLASH	23622248
MIRT045363	hsa-miR-185-5p	CLASH	23622248
MIRT043517	hsa-miR-331-3p	CLASH	23622248
MIRT1373489	hsa-miR-139-3p	CLIP-seq
MIRT1373490	hsa-miR-149	CLIP-seq
MIRT1373491	hsa-miR-3929	CLIP-seq
MIRT1373492	hsa-miR-4419a	CLIP-seq
MIRT1373493	hsa-miR-4419b	CLIP-seq
MIRT1373494	hsa-miR-4478	CLIP-seq
MIRT1373495	hsa-miR-4510	CLIP-seq
MIRT1373496	hsa-miR-4723-5p	CLIP-seq
MIRT1373497	hsa-miR-4728-5p	CLIP-seq
MIRT1373498	hsa-miR-4749-3p	CLIP-seq
MIRT1373499	hsa-miR-483-5p	CLIP-seq
MIRT2111191	hsa-miR-1200	CLIP-seq
MIRT2111192	hsa-miR-1206	CLIP-seq
MIRT2111193	hsa-miR-1264	CLIP-seq
MIRT2111194	hsa-miR-1915	CLIP-seq
MIRT2111195	hsa-miR-24	CLIP-seq
MIRT2111196	hsa-miR-3074-5p	CLIP-seq
MIRT2111197	hsa-miR-3125	CLIP-seq
MIRT2111198	hsa-miR-3126-5p	CLIP-seq
MIRT2111199	hsa-miR-3140-5p	CLIP-seq
MIRT2111200	hsa-miR-3165	CLIP-seq
MIRT2111201	hsa-miR-3191	CLIP-seq
MIRT2111202	hsa-miR-3622a-5p	CLIP-seq
MIRT2111203	hsa-miR-3916	CLIP-seq
MIRT2111204	hsa-miR-4269	CLIP-seq
MIRT2111205	hsa-miR-4270	CLIP-seq
MIRT2111206	hsa-miR-4284	CLIP-seq
MIRT2111207	hsa-miR-4441	CLIP-seq
MIRT2111208	hsa-miR-4446-3p	CLIP-seq
MIRT2111209	hsa-miR-4447	CLIP-seq
MIRT2111210	hsa-miR-4472	CLIP-seq
MIRT2111211	hsa-miR-4488	CLIP-seq
MIRT2111212	hsa-miR-4514	CLIP-seq
MIRT2111213	hsa-miR-4650-3p	CLIP-seq
MIRT2111214	hsa-miR-4667-5p	CLIP-seq
MIRT2111215	hsa-miR-4685-5p	CLIP-seq
MIRT2111216	hsa-miR-4692	CLIP-seq
MIRT2111217	hsa-miR-4697-5p	CLIP-seq
MIRT2111218	hsa-miR-4700-5p	CLIP-seq
MIRT2111219	hsa-miR-4709-3p	CLIP-seq
MIRT2111220	hsa-miR-4742-5p	CLIP-seq
MIRT1373499	hsa-miR-483-5p	CLIP-seq
MIRT2111221	hsa-miR-509-3p	CLIP-seq
MIRT2111222	hsa-miR-943	CLIP-seq
MIRT2111192	hsa-miR-1206	CLIP-seq
MIRT2334352	hsa-miR-15a	CLIP-seq
MIRT2334353	hsa-miR-15b	CLIP-seq
MIRT2334354	hsa-miR-16	CLIP-seq
MIRT2334355	hsa-miR-195	CLIP-seq
MIRT2334356	hsa-miR-214	CLIP-seq
MIRT2334357	hsa-miR-3184	CLIP-seq
MIRT2334358	hsa-miR-3619-5p	CLIP-seq
MIRT2334359	hsa-miR-3940-5p	CLIP-seq
MIRT2334360	hsa-miR-423-5p	CLIP-seq
MIRT2334361	hsa-miR-424	CLIP-seq
MIRT2334362	hsa-miR-4436a	CLIP-seq
MIRT2334363	hsa-miR-4436b-3p	CLIP-seq
MIRT2334364	hsa-miR-4476	CLIP-seq
MIRT2334365	hsa-miR-4507	CLIP-seq
MIRT1373496	hsa-miR-4723-5p	CLIP-seq
MIRT1373497	hsa-miR-4728-5p	CLIP-seq
MIRT2334366	hsa-miR-497	CLIP-seq
MIRT2334367	hsa-miR-626	CLIP-seq
MIRT2334368	hsa-miR-761	CLIP-seq
MIRT2628351	hsa-miR-1238	CLIP-seq
MIRT2628352	hsa-miR-1266	CLIP-seq
MIRT2628353	hsa-miR-1321	CLIP-seq
MIRT2628354	hsa-miR-1343	CLIP-seq
MIRT1373489	hsa-miR-139-3p	CLIP-seq
MIRT1373490	hsa-miR-149	CLIP-seq
MIRT2628355	hsa-miR-193a-3p	CLIP-seq
MIRT2628356	hsa-miR-193b	CLIP-seq
MIRT2628357	hsa-miR-2861	CLIP-seq
MIRT2628358	hsa-miR-3064-5p	CLIP-seq
MIRT2628359	hsa-miR-3124-3p	CLIP-seq
MIRT2628360	hsa-miR-3126-3p	CLIP-seq
MIRT2628361	hsa-miR-3128	CLIP-seq
MIRT2628362	hsa-miR-3137	CLIP-seq
MIRT2628363	hsa-miR-3176	CLIP-seq
MIRT2334357	hsa-miR-3184	CLIP-seq
MIRT2628364	hsa-miR-3189-3p	CLIP-seq
MIRT2111201	hsa-miR-3191	CLIP-seq
MIRT2628365	hsa-miR-3194-5p	CLIP-seq
MIRT2628366	hsa-miR-3616-3p	CLIP-seq
MIRT2628367	hsa-miR-362-5p	CLIP-seq
MIRT2628368	hsa-miR-3672	CLIP-seq
MIRT2628369	hsa-miR-3689a-3p	CLIP-seq
MIRT2628370	hsa-miR-3689c	CLIP-seq
MIRT2628371	hsa-miR-3922-3p	CLIP-seq
MIRT1373491	hsa-miR-3929	CLIP-seq
MIRT2334360	hsa-miR-423-5p	CLIP-seq
MIRT2111205	hsa-miR-4270	CLIP-seq
MIRT2628372	hsa-miR-4305	CLIP-seq
MIRT1373492	hsa-miR-4419a	CLIP-seq
MIRT1373493	hsa-miR-4419b	CLIP-seq
MIRT2334363	hsa-miR-4436b-3p	CLIP-seq
MIRT2111207	hsa-miR-4441	CLIP-seq
MIRT2628373	hsa-miR-4459	CLIP-seq
MIRT1373494	hsa-miR-4478	CLIP-seq
MIRT1373495	hsa-miR-4510	CLIP-seq
MIRT2628374	hsa-miR-4518	CLIP-seq
MIRT2628375	hsa-miR-4530	CLIP-seq
MIRT2628376	hsa-miR-4540	CLIP-seq
MIRT2628377	hsa-miR-4640-3p	CLIP-seq
MIRT2628378	hsa-miR-4652-5p	CLIP-seq
MIRT2628379	hsa-miR-4676-5p	CLIP-seq
MIRT2628380	hsa-miR-4690-3p	CLIP-seq
MIRT2628381	hsa-miR-4691-3p	CLIP-seq
MIRT2628382	hsa-miR-4718	CLIP-seq
MIRT2628383	hsa-miR-4720-5p	CLIP-seq
MIRT1373496	hsa-miR-4723-5p	CLIP-seq
MIRT1373497	hsa-miR-4728-5p	CLIP-seq
MIRT2628384	hsa-miR-4739	CLIP-seq
MIRT1373498	hsa-miR-4749-3p	CLIP-seq
MIRT2628385	hsa-miR-4756-5p	CLIP-seq
MIRT2628386	hsa-miR-4779	CLIP-seq
MIRT2628387	hsa-miR-4786-5p	CLIP-seq
MIRT2628388	hsa-miR-4794	CLIP-seq
MIRT2628389	hsa-miR-4799-3p	CLIP-seq
MIRT1373499	hsa-miR-483-5p	CLIP-seq
MIRT2628390	hsa-miR-500b	CLIP-seq
MIRT2628391	hsa-miR-558	CLIP-seq
MIRT2628392	hsa-miR-575	CLIP-seq
MIRT2628393	hsa-miR-595	CLIP-seq
MIRT2628394	hsa-miR-602	CLIP-seq
MIRT2628395	hsa-miR-605	CLIP-seq
MIRT2628396	hsa-miR-606	CLIP-seq
MIRT2628397	hsa-miR-646	CLIP-seq
MIRT2628398	hsa-miR-665	CLIP-seq
MIRT2628399	hsa-miR-718	CLIP-seq
MIRT2628400	hsa-miR-760	CLIP-seq
MIRT2628401	hsa-miR-769-5p	CLIP-seq
MIRT2628402	hsa-miR-885-3p	CLIP-seq
MIRT2628403	hsa-miR-892b	CLIP-seq
MIRT2111222	hsa-miR-943	CLIP-seq
MIRT1373497	hsa-miR-4728-5p	CLIP-seq
MIRT2628351	hsa-miR-1238	CLIP-seq
MIRT2628352	hsa-miR-1266	CLIP-seq
MIRT2628353	hsa-miR-1321	CLIP-seq
MIRT2628354	hsa-miR-1343	CLIP-seq
MIRT1373489	hsa-miR-139-3p	CLIP-seq
MIRT1373490	hsa-miR-149	CLIP-seq
MIRT2628355	hsa-miR-193a-3p	CLIP-seq
MIRT2628356	hsa-miR-193b	CLIP-seq
MIRT2691466	hsa-miR-1972	CLIP-seq
MIRT2628357	hsa-miR-2861	CLIP-seq
MIRT2628358	hsa-miR-3064-5p	CLIP-seq
MIRT2628359	hsa-miR-3124-3p	CLIP-seq
MIRT2628360	hsa-miR-3126-3p	CLIP-seq
MIRT2628361	hsa-miR-3128	CLIP-seq
MIRT2628362	hsa-miR-3137	CLIP-seq
MIRT2628363	hsa-miR-3176	CLIP-seq
MIRT2111201	hsa-miR-3191	CLIP-seq
MIRT2628365	hsa-miR-3194-5p	CLIP-seq
MIRT2628366	hsa-miR-3616-3p	CLIP-seq
MIRT2628368	hsa-miR-3672	CLIP-seq
MIRT2628371	hsa-miR-3922-3p	CLIP-seq
MIRT1373491	hsa-miR-3929	CLIP-seq
MIRT2691467	hsa-miR-3944-5p	CLIP-seq
MIRT2111205	hsa-miR-4270	CLIP-seq
MIRT2628372	hsa-miR-4305	CLIP-seq
MIRT1373492	hsa-miR-4419a	CLIP-seq
MIRT1373493	hsa-miR-4419b	CLIP-seq
MIRT2334363	hsa-miR-4436b-3p	CLIP-seq
MIRT2111207	hsa-miR-4441	CLIP-seq
MIRT2628373	hsa-miR-4459	CLIP-seq
MIRT1373494	hsa-miR-4478	CLIP-seq
MIRT1373495	hsa-miR-4510	CLIP-seq
MIRT2111212	hsa-miR-4514	CLIP-seq
MIRT2628374	hsa-miR-4518	CLIP-seq
MIRT2628376	hsa-miR-4540	CLIP-seq
MIRT2628377	hsa-miR-4640-3p	CLIP-seq
MIRT2691468	hsa-miR-4645-5p	CLIP-seq
MIRT2691469	hsa-miR-4650-5p	CLIP-seq
MIRT2628378	hsa-miR-4652-5p	CLIP-seq
MIRT2691470	hsa-miR-4673	CLIP-seq
MIRT2628379	hsa-miR-4676-5p	CLIP-seq
MIRT2628380	hsa-miR-4690-3p	CLIP-seq
MIRT2628381	hsa-miR-4691-3p	CLIP-seq
MIRT2691471	hsa-miR-4691-5p	CLIP-seq
MIRT2111216	hsa-miR-4692	CLIP-seq
MIRT2628382	hsa-miR-4718	CLIP-seq
MIRT2628383	hsa-miR-4720-5p	CLIP-seq
MIRT1373496	hsa-miR-4723-5p	CLIP-seq
MIRT1373497	hsa-miR-4728-5p	CLIP-seq
MIRT2628384	hsa-miR-4739	CLIP-seq
MIRT1373498	hsa-miR-4749-3p	CLIP-seq
MIRT2628385	hsa-miR-4756-5p	CLIP-seq
MIRT2628386	hsa-miR-4779	CLIP-seq
MIRT2628387	hsa-miR-4786-5p	CLIP-seq
MIRT2628388	hsa-miR-4794	CLIP-seq
MIRT2628389	hsa-miR-4799-3p	CLIP-seq
MIRT1373499	hsa-miR-483-5p	CLIP-seq
MIRT2628391	hsa-miR-558	CLIP-seq
MIRT2628392	hsa-miR-575	CLIP-seq
MIRT2628393	hsa-miR-595	CLIP-seq
MIRT2628394	hsa-miR-602	CLIP-seq
MIRT2628395	hsa-miR-605	CLIP-seq
MIRT2628396	hsa-miR-606	CLIP-seq
MIRT2628398	hsa-miR-665	CLIP-seq
MIRT2628401	hsa-miR-769-5p	CLIP-seq
MIRT2628402	hsa-miR-885-3p	CLIP-seq
MIRT2628403	hsa-miR-892b	CLIP-seq
MIRT2691472	hsa-miR-940	CLIP-seq
MIRT2111222	hsa-miR-943	CLIP-seq

Show/Hide all(32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IBA	21873635
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP	18974281, 19060897, 20930030
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	TAS	16488880
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0003723	Function	RNA binding	IPI	17940095
GO:0004521	Function	Endoribonuclease activity	IDA	19060897
GO:0004521	Function	Endoribonuclease activity	IMP	18974281
GO:0004521	Function	Endoribonuclease activity	TAS
GO:0005515	Function	Protein binding	IPI	12699629, 20930030, 21145460, 32296183, 32814053
GO:0005634	Component	Nucleus	IDA	14636577
GO:0005697	Component	Telomerase holoenzyme complex	IBA	21873635
GO:0005697	Component	Telomerase holoenzyme complex	TAS	12699629
GO:0005730	Component	Nucleolus	IDA	12676087
GO:0005737	Component	Cytoplasm	IDA	14636577
GO:0005829	Component	Cytosol	IDA	19060897
GO:0005829	Component	Cytosol	TAS
GO:0006406	Process	MRNA export from nucleus	TAS	16488880
GO:0032204	Process	Regulation of telomere maintenance	IMP	12699629, 17916692
GO:0032210	Process	Regulation of telomere maintenance via telomerase	IC	22011238
GO:0032210	Process	Regulation of telomere maintenance via telomerase	TAS	16507993
GO:0035145	Component	Exon-exon junction complex	IDA	20930030
GO:0035303	Process	Regulation of dephosphorylation	TAS	15721257
GO:0042162	Function	Telomeric DNA binding	IBA	21873635
GO:0042162	Function	Telomeric DNA binding	IDA	12699629, 17916692
GO:0043021	Function	Ribonucleoprotein complex binding	IPI	12676087, 17940095
GO:0046872	Function	Metal ion binding	IEA
GO:0051972	Process	Regulation of telomerase activity	IC	22011238
GO:0070034	Function	Telomerase RNA binding	IBA	21873635
GO:0070034	Function	Telomerase RNA binding	IPI	15857955, 17940095
GO:0070182	Function	DNA polymerase binding	IPI	17940095, 22011238
GO:0090502	Process	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA
GO:1904354	Process	Negative regulation of telomere capping	IDA	12676087

MIM	HGNC	e!Ensembl
610963	17809	ENSG00000070366

Protein

UniProt ID

Q86US8

Protein name

Telomerase-binding protein EST1A (EC 3.1.-.-) (Ever shorter telomeres 1A) (hEST1A) (Nonsense mediated mRNA decay factor SMG6) (Smg-6 homolog) (hSmg5/7a)

Protein function

Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini (PubMed:19179534). May have a general role in telomere regulation (PubMed:12676087, PubMed:12699629). Promotes in vitro the a

PDB

2DOK , 2HWW , 2HWX , 4UM2 , 8RXB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10374	EST1	638 → 743	Telomerase activating protein Est1	Family
PF10373	EST1_DNA_bind	751 → 1107	Est1 DNA/RNA binding domain	Family
PF13638	PIN_4	1248 → 1409	PIN domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12676087, ECO:0000269|PubMed:12699629}.

Sequence

MAEGLERVRISASELRGILATLAPQAGSRENMKELKEARPRKDNRRPDLEIYKPGLSRLR
NKPKIKEPPGSEEFKDEIVNDRDCSAVENGTQPVKDVCKELNNQEQNGPIDPENNRGQES
FPRTAGQEDRSLKIIKRTKKPDLQIYQPGRRLQTVSKESASRVEEEEVLNQVEQLRVEED
ECRGNVAKEEVANKPDRAEIEKSPGGGRVGAAKGEKGKRMGKGEGVRETHDDPARGRPGS
AKRYSRSDKRRNRYRTRSTSSAGSNNSAEGAGLTDNGCRRRRQDRTKERPRLKKQVSVSS
TDSLDEDRIDEPDGLGPRRSSERKRHLERNWSGRGEGEQKNSAKEYRGTLRVTFDAEAMN
KESPMVRSARDDMDRGKPDKGLSSGGKGSEKQESKNPKQELRGRGRGILILPAHTTLSVN
SAGSPESAPLGPRLLFGSGSKGSRSWGRGGTTRRLWDPNNPDQKPALKTQTPQLHFLDTD
DEVSPTSWGDSRQAQASYYKFQNSDNPYYYPRTPGPASQYPYTGYNPLQYPVGPTNGVYP
GPYYPGYPTPSGQYVCSPLPTSTMSPEEVEQHMRNLQQQELHRLLRVADNQELQLSNLLS
RDRISPEGLEKMAQLRAELLQLYERCILLDIEFSDNQNVDQILWKNAFYQVIEKFRQLVK
DPNVENPEQIRNRLLELLDEGSDFFDSLLQKLQVTYKFKLEDYMDGLAIRSKPLRKTVKY
ALISAQRCMICQGDIARYREQASDTANYGKARSWYLKAQHIAPKNGRPYNQLALLAVYTR
RKLDAVYYYMRSLAASNPILTAKESLMSLFEETKRKAEQMEKKQHEEFDLSPDQWRKGKK
STFRHVGDDTTRLEIWIHPSHPRSSQGTESGKDSEQENGLGSLSPSDLNKRFILSFLHAH
GKLFTRIGMETFPAVAEKVLKEFQVLLQHSPSPIGSTRMLQLMTINMFAVHNSQLKDCFS
EECRSVIQEQAAALGLAMFSLLVRRCTCLLKESAKAQLSSPEDQDDQDDIKVSSFVPDLK
ELLPSVKVWSDWMLGYPDTWNPPPTSLDLPSHVAVDVWSTLADFCNILTAVNQSEVPLYK
DPDDDLTLLILEEDRLLSGFVPLLAAPQDPCYVEKTSDKVIAADCKRVTVLKYFLEALCG
QEEPLLAFKGGKYVSVAPVPDTMGKEMGSQEGTRLEDEEEDVVIEDFEEDSEAEGSGGED
DIRELRAKKLALARKIAEQQRRQEKIQAVLEDHSQMRQMELEIRPLFLVPDTNGFIDHLA
SLARLLESRKYILVVPLIVINELDGLAKGQETDHRAGGYARVVQEKARKSIEFLEQRFES
RDSCLRALTSRGNELESIAFRSEDITGQLGNNDDLILSCCLHYCKDKAKDFMPASKEEPI
RLLREVVLLTDDRNLRVKALTRNVPVRDIPAFLTWAQVG

Sequence length

1419

Interactions

View interactions

	KEGG		Reactome
	mRNA surveillance pathway		Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID	References
Causal
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	22960999
Coronary artery disease	CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1, Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537	23202125, 29212778, 24262325, 28714975, 26343387
Esophagus neoplasm	Esophageal Neoplasms	rs28934578, rs121918714, rs1567556006, rs1575166666	22960999
Mitral valve prolapse	Mitral Valve Prolapse Syndrome	rs768737101	26301497
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	29483656

Show/Hide Unknown Diseases (11)

Disease term	Disease name	Evidence	References	Source
Unknown
Coronary heart disease	Coronary heart disease		24262325, 21378990	ClinVar
Eczema	Eczema			GWAS
Myocardial Infarction	Myocardial Infarction			GWAS
Coronary Heart Disease	Coronary Heart Disease			GWAS
Multiple Sclerosis	Multiple Sclerosis			GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Hypertension	Hypertension			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Heart Failure	Heart Failure			GWAS
Atrial Fibrillation	Atrial Fibrillation			GWAS
Glaucoma	Glaucoma			GWAS

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining
Bipolar Disorder	Associate	25517604
COVID 19	Associate	34185889
Depressive Disorder	Associate	25517604
Lupus Erythematosus Systemic	Associate	25517604
Migraine Disorders	Associate	32632093
Mitral Valve Prolapse	Associate	33508947
Sarcoma	Associate	36232302
Venous Thromboembolism	Associate	31420334

SMG6 (SMG6 nonsense mediated mRNA decay factor)