• Gene id: 23293

Gene Summary

• Gene Symbol: SMG6   Gene   UCSC   Ensembl
• Aliases: C17orf31, EST1A, SMG-6, hSMG5/7a
• Gene name: SMG6 nonsense mediated mRNA decay factor
• Alternate names: telomerase-binding protein EST1A, EST1 telomerase component homolog A, ever shorter telomeres 1A, smg-6 homolog, nonsense mediated mRNA decay factor, telomerase subunit EST1A,
• Gene location: 17p13.3 (2303835: 2059838)     Exons: 30     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 610963

Protein Summary

• Protein general information: Q86US8  
  • Name: Telomerase binding protein EST1A (EC 3.1. . ) (EST1 like protein A) (Ever shorter telomeres 1A) (Smg 6 homolog) (Telomerase subunit EST1A) (hSmg5/7a)
  • Length: 1419  
  • Mass: 160462
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MAEGLERVRISASELRGILATLAPQAGSRENMKELKEARPRKDNRRPDLEIYKPGLSRLRNKPKIKEPPGSEEFK
  DEIVNDRDCSAVENGTQPVKDVCKELNNQEQNGPIDPENNRGQESFPRTAGQEDRSLKIIKRTKKPDLQIYQPGR
  RLQTVSKESASRVEEEEVLNQVEQLRVEEDECRGNVAKEEVANKPDRAEIEKSPGGGRVGAAKGEKGKRMGKGEG
  VRETHDDPARGRPGSAKRYSRSDKRRNRYRTRSTSSAGSNNSAEGAGLTDNGCRRRRQDRTKERPRLKKQVSVSS
  TDSLDEDRIDEPDGLGPRRSSERKRHLERNWSGRGEGEQKNSAKEYRGTLRVTFDAEAMNKESPMVRSARDDMDR
  GKPDKGLSSGGKGSEKQESKNPKQELRGRGRGILILPAHTTLSVNSAGSPESAPLGPRLLFGSGSKGSRSWGRGG
  TTRRLWDPNNPDQKPALKTQTPQLHFLDTDDEVSPTSWGDSRQAQASYYKFQNSDNPYYYPRTPGPASQYPYTGY
  NPLQYPVGPTNGVYPGPYYPGYPTPSGQYVCSPLPTSTMSPEEVEQHMRNLQQQELHRLLRVADNQELQLSNLLS
  RDRISPEGLEKMAQLRAELLQLYERCILLDIEFSDNQNVDQILWKNAFYQVIEKFRQLVKDPNVENPEQIRNRLL
  ELLDEGSDFFDSLLQKLQVTYKFKLEDYMDGLAIRSKPLRKTVKYALISAQRCMICQGDIARYREQASDTANYGK
  ARSWYLKAQHIAPKNGRPYNQLALLAVYTRRKLDAVYYYMRSLAASNPILTAKESLMSLFEETKRKAEQMEKKQH
  EEFDLSPDQWRKGKKSTFRHVGDDTTRLEIWIHPSHPRSSQGTESGKDSEQENGLGSLSPSDLNKRFILSFLHAH
  GKLFTRIGMETFPAVAEKVLKEFQVLLQHSPSPIGSTRMLQLMTINMFAVHNSQLKDCFSEECRSVIQEQAAALG
  LAMFSLLVRRCTCLLKESAKAQLSSPEDQDDQDDIKVSSFVPDLKELLPSVKVWSDWMLGYPDTWNPPPTSLDLP
  SHVAVDVWSTLADFCNILTAVNQSEVPLYKDPDDDLTLLILEEDRLLSGFVPLLAAPQDPCYVEKTSDKVIAADC
  KRVTVLKYFLEALCGQEEPLLAFKGGKYVSVAPVPDTMGKEMGSQEGTRLEDEEEDVVIEDFEEDSEAEGSGGED
  DIRELRAKKLALARKIAEQQRRQEKIQAVLEDHSQMRQMELEIRPLFLVPDTNGFIDHLASLARLLESRKYILVV
  PLIVINELDGLAKGQETDHRAGGYARVVQEKARKSIEFLEQRFESRDSCLRALTSRGNELESIAFRSEDITGQLG
  NNDDLILSCCLHYCKDKAKDFMPASKEEPIRLLREVVLLTDDRNLRVKALTRNVPVRDIPAFLTWAQVG

• Structural information:
  • Protein Domains: (1246..139-)
    (/note="PINc"-)
  • Interpro: IPR018834  IPR019458  IPR029060  IPR002716  IPR011990  
  • PDB: 2DOK 2HWW 2HWX 4UM2
  • PDBsum: 2DOK 2HWW 2HWX 4UM2
  • STRING: ENSP00000263073
• Other Databases: GeneCards:  SMG6  Malacards:  SMG6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0042162	telomeric DNA binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005697	telomerase holoenzyme complex	TAS	cellular component
GO:0035303	regulation of dephosphorylation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	TAS	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IBA	biological process
GO:0005697	telomerase holoenzyme complex	IBA	cellular component
GO:0007004	telomere maintenance via telomerase	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0032210	regulation of telomere maintenance via telomerase	IBA	biological process
GO:0042162	telomeric DNA binding	IBA	molecular function
GO:0070034	telomerase RNA binding	IBA	molecular function
GO:0035145	exon-exon junction complex	IDA	colocalizes with
GO:0005829	cytosol	IDA	cellular component
GO:0004521	endoribonuclease activity	IDA	molecular function
GO:0004521	endoribonuclease activity	IMP	molecular function
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP	biological process
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP	biological process
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0004519	endonuclease activity	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	TAS	biological process
GO:0004521	endoribonuclease activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1904354	negative regulation of telomere capping	IDA	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0043021	ribonucleoprotein complex binding	IPI	molecular function
GO:0043021	ribonucleoprotein complex binding	IPI	molecular function
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0042162	telomeric DNA binding	IDA	molecular function
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0032210	regulation of telomere maintenance via telomerase	TAS	biological process
GO:0070182	DNA polymerase binding	IPI	molecular function
GO:0032204	regulation of telomere maintenance	IMP	biological process
GO:0070182	DNA polymerase binding	IPI	molecular function
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0003723	RNA binding	IPI	molecular function
GO:0032204	regulation of telomere maintenance	IMP	biological process
GO:0051972	regulation of telomerase activity	IC	biological process
GO:0032210	regulation of telomere maintenance via telomerase	IC	biological process
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa03015	mRNA surveillance pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray