• Gene id: 23049

Gene Summary

• Gene Symbol: SMG1   Gene   UCSC   Ensembl
• Aliases: 61E3.4, ATX, LIP
• Gene name: SMG1 nonsense mediated mRNA decay associated PI3K related kinase
• Alternate names: serine/threonine-protein kinase SMG1, PI-3-kinase-related kinase SMG-1, SMG1 phosphatidylinositol 3-kinase-related kinase, lambda-interacting protein, lambda/iota protein kinase C-interacting protein, smg-1 homolog, phosphatidylinositol 3-kinase-related kinase,
• Gene location: 16p12.3 (18926427: 18804857)     Exons: 33     NC_000016.10
• Gene summary(Entrez): This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alte
• OMIM: 607032

Protein Summary

• Protein general information: Q96Q15  
  • Name: Serine/threonine protein kinase SMG1 (SMG 1) (hSMG 1) (EC 2.7.11.1) (61E3.4) (Lambda/iota protein kinase C interacting protein) (Lambda interacting protein)
  • Length: 3661  
  • Mass: 410501
  • Tissue specificity: Widely expressed, with highest level in heart and skeletal muscle. Expressed in placenta, brain, lung and spleen, but not in liver. {ECO
• Sequence:

  MSRRAPGSRLSSGGGGGGTKYPRSWNDWQPRTDSASADPDNLKYSSSRDRGGSSSYGLQPSNSAVVSRQRHDDTR
  VHADIQNDEKGGYSVNGGSGENTYGRKSLGQELRVNNVTSPEFTSVQHGSRALATKDMRKSQERSMSYSDESRLS
  NLLRRITREDDRDRRLATVKQLKEFIQQPENKLVLVKQLDNILAAVHDVLNESSKLLQELRQEGACCLGLLCASL
  SYEAEKIFKWIFSKFSSSAKDEVKLLYLCATYKALETVGEKKAFSSVMQLVMTSLQSILENVDTPELLCKCVKCI
  LLVARCYPHIFSTNFRDTVDILVGWHIDHTQKPSLTQQVSGWLQSLEPFWVADLAFSTTLLGQFLEDMEAYAEDL
  SHVASGESVDEDVPPPSVSLPKLAALLRVFSTVVRSIGERFSPIRGPPITEAYVTDVLYRVMRCVTAANQVFFSE
  AVLTAANECVGVLLGSLDPSMTIHCDMVITYGLDQLENCQTCGTDYIISVLNLLTLIVEQINTKLPSSFVEKLFI
  PSSKLLFLRYHKEKEVVAVAHAVYQAVLSLKNIPVLETAYKLILGEMTCALNNLLHSLQLPEACSEIKHEAFKNH
  VFNVDNAKFVVIFDLSALTTIGNAKNSLIGMWALSPTVFALLSKNLMIVHSDLAVHFPAIQYAVLYTLYSHCTRH
  DHFISSSLSSSSPSLFDGAVISTVTTATKKHFSIILNLLGILLKKDNLNQDTRKLLMTWALEAAVLMKKSETYAP
  LFSLPSFHKFCKGLLANTLVEDVNICLQACSSLHALSSSLPDDLLQRCVDVCRVQLVHSGTRIRQAFGKLLKSIP
  LDVVLSNNNHTEIQEISLALRSHMSKAPSNTFHPQDFSDVISFILYGNSHRTGKDNWLERLFYSCQRLDKRDQST
  IPRNLLKTDAVLWQWAIWEAAQFTVLSKLRTPLGRAQDTFQTIEGIIRSLAAHTLNPDQDVSQWTTADNDEGHGN
  NQLRLVLLLQYLENLEKLMYNAYEGCANALTSPPKVIRTFFYTNRQTCQDWLTRIRLSIMRVGLLAGQPAVTVRH
  GFDLLTEMKTTSLSQGNELEVTIMMVVEALCELHCPEAIQGIAVWSSSIVGKNLLWINSVAQQAEGRFEKASVEY
  QEHLCAMTGVDCCISSFDKSVLTLANAGRNSASPKHSLNGESRKTVLSKPTDSSPEVINYLGNKACECYISIADW
  AAVQEWQNAIHDLKKSTSSTSLNLKADFNYIKSLSSFESGKFVECTEQLELLPGENINLLAGGSKEKIDMKKLLP
  NMLSPDPRELQKSIEVQLLRSSVCLATALNPIEQDQKWQSITENVVKYLKQTSRIAIGPLRLSTLTVSQSLPVLS
  TLQLYCSSALENTVSNRLSTEDCLIPLFSEALRSCKQHDVRPWMQALRYTMYQNQLLEKIKEQTVPIRSHLMELG
  LTAAKFARKRGNVSLATRLLAQCSEVQLGKTTTAQDLVQHFKKLSTQGQVDEKWGPELDIEKTKLLYTAGQSTHA
  MEMLSSCAISFCKSVKAEYAVAKSILTLAKWIQAEWKEISGQLKQVYRAQHQQNFTGLSTLSKNILTLIELPSVN
  TMEEEYPRIESESTVHIGVGEPDFILGQLYHLSSVQAPEVAKSWAALASWAYRWGRKVVDNASQGEGVRLLPREK
  SEVQNLLPDTITEEEKERIYGILGQAVCRPAGIQDEDITLQITESEDNEEDDMVDVIWRQLISSCPWLSELDESA
  TEGVIKVWRKVVDRIFSLYKLSCSAYFTFLKLNAGQIPLDEDDPRLHLSHRVEQSTDDMIVMATLRLLRLLVKHA
  GELRQYLEHGLETTPTAPWRGIIPQLFSRLNHPEVYVRQSICNLLCRVAQDSPHLILYPAIVGTISLSSESQASG
  NKFSTAIPTLLGNIQGEELLVSECEGGSPPASQDSNKDEPKSGLNEDQAMMQDCYSKIVDKLSSANPTMVLQVQM
  LVAELRRVTVLWDELWLGVLLQQHMYVLRRIQQLEDEVKRVQNNNTLRKEEKIAIMREKHTALMKPIVFALEHVR
  SITAAPAETPHEKWFQDNYGDAIENALEKLKTPLNPAKPGSSWIPFKEIMLSLQQRAQKRASYILRLEEISPWLA
  AMTNTEIALPGEVSARDTVTIHSVGGTITILPTKTKPKKLLFLGSDGKSYPYLFKGLEDLHLDERIMQFLSIVNT
  MFATINRQETPRFHARHYSVTPLGTRSGLIQWVDGATPLFGLYKRWQQREAALQAQKAQDSYQTPQNPGIVPRPS
  ELYYSKIGPALKTVGLSLDVSRRDWPLHVMKAVLEELMEATPPNLLAKELWSSCTTPDEWWRVTQSYARSTAVMS
  MVGYIIGLGDRHLDNVLIDMTTGEVVHIDYNVCFEKGKSLRVPEKVPFRMTQNIETALGVTGVEGVFRLSCEQVL
  HIMRRGRETLLTLLEAFVYDPLVDWTAGGEAGFAGAVYGGGGQQAESKQSKREMEREITRSLFSSRVAEIKVNWF
  KNRDEMLVVLPKLDGSLDEYLSLQEQLTDVEKLQGKLLEEIEFLEGAEGVDHPSHTLQHRYSEHTQLQTQQRAVQ
  EAIQVKLNEFEQWITHYQAAFNNLEATQLASLLQEISTQMDLGPPSYVPATAFLQNAGQAHLISQCEQLEGEVGA
  LLQQRRSVLRGCLEQLHHYATVALQYPKAIFQKHRIEQWKTWMEELICNTTVERCQELYRKYEMQYAPQPPPTVC
  QFITATEMTLQRYAADINSRLIRQVERLKQEAVTVPVCEDQLKEIERCIKVFLHENGEEGSLSLASVIISALCTL
  TRRNLMMEGAASSAGEQLVDLTSRDGAWFLEELCSMSGNVTCLVQLLKQCHLVPQDLDIPNPMEASETVHLANGV
  YTSLQELNSNFRQIIFPEALRCLMKGEYTLESMLHELDGLIEQTTDGVPLQTLVESLQAYLRNAAMGLEEETHAH
  YIDVARLLHAQYGELIQPRNGSVDETPKMSAGQMLLVAFDGMFAQVETAFSLLVEKLNKMEIPIAWRKIDIIREA
  RSTQVNFFDDDNHRQVLEEIFFLKRLQTIKEFFRLCGTFSKTLSGSSSLEDQNTVNGPVQIVNVKTLFRNSCFSE
  DQMAKPIKAFTADFVRQLLIGLPNQALGLTLCSFISALGVDIIAQVEAKDFGAESKVSVDDLCKKAVEHNIQIGK
  FSQLVMNRATVLASSYDTAWKKHDLVRRLETSISSCKTSLQRVQLHIAMFQWQHEDLLINRPQAMSVTPPPRSAI
  LTSMKKKLHTLSQIETSIATVQEKLAALESSIEQRLKWAGGANPALAPVLQDFEATIAERRNLVLKESQRASQVT
  FLCSNIIHFESLRTRTAEALNLDAALFELIKRCQQMCSFASQFNSSVSELELRLLQRVDTGLEHPIGSSEWLLSA
  HKQLTQDMSTQRAIQTEKEQQIETVCETIQNLVDNIKTVLTGHNRQLGDVKHLLKAMAKDEEAALADGEDVPYEN
  SVRQFLGEYKSWQDNIQTVLFTLVQAMGQVRSQEHVEMLQEITPTLKELKTQSQSIYNNLVSFASPLVTDATNEC
  SSPTSSATYQPSFAAAVRSNTGQKTQPDVMSQNARKLIQKNLATSADTPPSTVPGTGKSVACSPKKAVRDPKTGK
  AVQERNSYAVSVWKRVKAKLEGRDVDPNRRMSVAEQVDYVIKEATNLDNLAQLYEGWTAWV

• Structural information:
  • Protein Domains: (1283..186-)
    (/note="FAT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00534-)
    (2150..247-)
    (/note="PI3K/PI4K-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00269-)
    (3629..366-)
    (/note="FATC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0053-)
  • Interpro: IPR016024  IPR003152  IPR011009  IPR000403  IPR036940   IPR018936  IPR014009  IPR031559  IPR035175  IPR039414  
  • Prosite: PS51189 PS51190 PS00916 PS50290
  • CDD: cd05170
  • PDB: 6SYT
  • PDBsum: 6SYT
  • STRING: ENSP00000402515
• Other Databases: GeneCards:  SMG1  Malacards:  SMG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase 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:0006281	DNA repair	IEA	biological process
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0004674	protein serine/threonine kinase activity	EXP	molecular function
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	TAS	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042162	telomeric DNA binding	IDA	molecular function
GO:0032204	regulation of telomere maintenance	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0046854	phosphatidylinositol phosphorylation	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0046777	protein autophosphorylation	IDA	biological process
GO:2001020	regulation of response to DNA damage stimulus	IDA	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0004674	protein serine/threonine kinase activity	NAS	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004672	protein kinase activity	TAS	molecular function
GO:0018105	peptidyl-serine phosphorylation	TAS	biological process
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	TAS	biological process
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa03015	mRNA surveillance pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq