Gene id |
23293 |
Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
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 |
|
Other Databases |
GeneCards: SMG6 Malacards: SMG6 |
|
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 com plex
|
TAS |
cellular component |
GO:0035303 |
regulation of dephosphory lation
|
TAS |
biological process |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0000184 |
nuclear-transcribed mRNA catabolic process, nonsen se-mediated decay
|
TAS |
biological process |
GO:0005737 |
cytoplasm
|
IDA |
cellular component |
GO:0000184 |
nuclear-transcribed mRNA catabolic process, nonsen se-mediated decay
|
IBA |
biological process |
GO:0005697 |
telomerase holoenzyme com plex
|
IBA |
cellular component |
GO:0007004 |
telomere maintenance via telomerase
|
IBA |
biological process |
GO:0005737 |
cytoplasm
|
IBA |
cellular component |
GO:0032210 |
regulation of telomere ma intenance 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 comple x
|
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, nonsen se-mediated decay
|
IMP |
biological process |
GO:0000184 |
nuclear-transcribed mRNA catabolic process, nonsen se-mediated decay
|
IMP |
biological process |
GO:0000184 |
nuclear-transcribed mRNA catabolic process, nonsen se-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, nonsen se-mediated decay
|
IEA |
biological process |
GO:0046872 |
metal ion binding
|
IEA |
molecular function |
GO:0000781 |
chromosome, telomeric reg ion
|
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, nonsen se-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 te lomere 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 ma intenance via telomerase
|
TAS |
biological process |
GO:0070182 |
DNA polymerase binding
|
IPI |
molecular function |
GO:0032204 |
regulation of telomere ma intenance
|
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 ma intenance
|
IMP |
biological process |
GO:0051972 |
regulation of telomerase activity
|
IC |
biological process |
GO:0032210 |
regulation of telomere ma intenance via telomerase
|
IC |
biological process |
GO:0000781 |
chromosome, telomeric reg ion
|
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 h ydrolysis, endonucleolyti c
|
IEA |
biological process |
GO:0090502 |
RNA phosphodiester bond h ydrolysis, endonucleolyti c
|
IEA |
biological process |
GO:0090502 |
RNA phosphodiester bond h ydrolysis, endonucleolyti c
|
IEA |
biological process |
GO:0090305 |
nucleic acid phosphodiest er bond hydrolysis
|
IEA |
biological process |
GO:0090305 |
nucleic acid phosphodiest er bond hydrolysis
|
IEA |
biological process |
|
|
Pathway id | Pathway name |
hsa03015 | mRNA surveillance pathway | |
|
Associated diseases |
References |
Cryptorchidism | MIK: 28606200 |
Hypospermatogenesis | MIK: 28361989 |
Teratozoospermia | MIK: 17327269 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
17327269 |
Teratozoos permia
|
|
|
13 (5 controls, 8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
28606200 |
Cryptorchi dism
|
|
|
Monozgotic twin s (1 control, I cwith cryptorc hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
28361989 |
Hyposperma togenesis
|
|
|
6 (3 controls, 3 Klienfelter s yndrome
|
Male infertility |
Microarray
|
Show abstract |
|