• Gene id: 10985

Gene Summary

• Gene Symbol: GCN1   Gene   UCSC   Ensembl
• Aliases: GCN1L, GCN1L1, PRIC295
• Gene name: GCN1 activator of EIF2AK4
• Alternate names: eIF-2-alpha kinase activator GCN1, GCN1 (general control of amino-acid synthesis 1, yeast)-like 1, GCN1 eIF-2-alpha kinase activator homolog, GCN1 general control of amino-acid synthesis 1-like 1, GCN1, eIF2 alpha kinase activator homolog, GCN1-like protein 1, ,
• Gene location: 12q24.23 (102362940: 102502476)     Exons: 20     NC_000014.9
• OMIM: 605614

Protein Summary

• Protein general information: Q92616  
  • Name: eIF 2 alpha kinase activator GCN1 (GCN1 eIF 2 alpha kinase activator homolog) (GCN1 like protein 1) (General control of amino acid synthesis 1 like protein 1) (Translational activator GCN1) (HsGCN1)
  • Length: 2671  
  • Mass: 292758
  • Tissue specificity: Ubiquitously expressed (PubMed
• Sequence:

  MAADTQVSETLKRFAGKVTTASVKERREILSELGKCVAGKDLPEGAVKGLCKLFCLTLHRYRDAASRRALQAAIQ
  QLAEAQPEATAKNLLHSLQSSGIGSKAGVPSKSSGSAALLALTWTCLLVRIVFPSRAKRQGDIWNKLVEVQCLLL
  LEVLGGSHKHAVDGAVKKLTKLWKENPGLVEQYLSAILSLEPNQNYAGMLGLLVQFCTSHKEMDVVSQHKSALLD
  FYMKNILMSKVKPPKYLLDSCAPLLRYLSHSEFKDLILPTIQKSLLRSPENVIETISSLLASVTLDLSQYAMDIV
  KGLAGHLKSNSPRLMDEAVLALRNLARQCSDSSAMESLTKHLFAILGGSEGKLTVVAQKMSVLSGIGSVSHHVVS
  GPSSQVLNGIVAELFIPFLQQEVHEGTLVHAVSVLALWCNRFTMEVPKKLTEWFKKAFSLKTSTSAVRHAYLQCM
  LASYRGDTLLQALDLLPLLIQTVEKAASQSTQVPTITEGVAAALLLLKLSVADSQAEAKLSSFWQLIVDEKKQVF
  TSEKFLVMASEDALCTVLHLTERLFLDHPHRLTGNKVQQYHRALVAVLLSRTWHVRRQAQQTVRKLLSSLGGFKL
  AHGLLEELKTVLSSHKVLPLEALVTDAGEVTEAGKAYVPPRVLQEALCVISGVPGLKGDVTDTEQLAQEMLIISH
  HPSLVAVQSGLWPALLARMKIDPEAFITRHLDQIIPRMTTQSPLNQSSMNAMGSLSVLSPDRVLPQLISTITASV
  QNPALRLVTREEFAIMQTPAGELYDKSIIQSAQQDSIKKANMKRENKAYSFKEQIIELELKEEIKKKKGIKEEVQ
  LTSKQKEMLQAQLDREAQVRRRLQELDGELEAALGLLDIILAKNPSGLTQYIPVLVDSFLPLLKSPLAAPRIKNP
  FLSLAACVMPSRLKALGTLVSHVTLRLLKPECVLDKSWCQEELSVAVKRAVMLLHTHTITSRVGKGEPGAAPLSA
  PAFSLVFPFLKMVLTEMPHHSEEEEEWMAQILQILTVQAQLRASPNTPPGRVDENGPELLPRVAMLRLLTWVIGT
  GSPRLQVLASDTLTTLCASSSGDDGCAFAEQEEVDVLLCALQSPCASVRETVLRGLMELHMVLPAPDTDEKNGLN
  LLRRLWVVKFDKEEEIRKLAERLWSMMGLDLQPDLCSLLIDDVIYHEAAVRQAGAEALSQAVARYQRQAAEVMGR
  LMEIYQEKLYRPPPVLDALGRVISESPPDQWEARCGLALALNKLSQYLDSSQVKPLFQFFVPDALNDRHPDVRKC
  MLDAALATLNTHGKENVNSLLPVFEEFLKNAPNDASYDAVRQSVVVLMGSLAKHLDKSDPKVKPIVAKLIAALST
  PSQQVQESVASCLPPLVPAIKEDAGGMIQRLMQQLLESDKYAERKGAAYGLAGLVKGLGILSLKQQEMMAALTDA
  IQDKKNFRRREGALFAFEMLCTMLGKLFEPYVVHVLPHLLLCFGDGNQYVREAADDCAKAVMSNLSAHGVKLVLP
  SLLAALEEESWRTKAGSVELLGAMAYCAPKQLSSCLPNIVPKLTEVLTDSHVKVQKAGQQALRQIGSVIRNPEIL
  AIAPVLLDALTDPSRKTQKCLQTLLDTKFVHFIDAPSLALIMPIVQRAFQDRSTDTRKMAAQIIGNMYSLTDQKD
  LAPYLPSVTPGLKASLLDPVPEVRTVSAKALGAMVKGMGESCFEDLLPWLMETLTYEQSSVDRSGAAQGLAEVMA
  GLGVEKLEKLMPEIVATASKVDIAPHVRDGYIMMFNYLPITFGDKFTPYVGPIIPCILKALADENEFVRDTALRA
  GQRVISMYAETAIALLLPQLEQGLFDDLWRIRFSSVQLLGDLLFHISGVTGKMTTETASEDDNFGTAQSNKAIIT
  ALGVERRNRVLAGLYMGRSDTQLVVRQASLHVWKIVVSNTPRTLREILPTLFGLLLGFLASTCADKRTIAARTLG
  DLVRKLGEKILPEIIPILEEGLRSQKSDERQGVCIGLSEIMKSTSRDAVLYFSESLVPTARKALCDPLEEVREAA
  AKTFEQLHSTIGHQALEDILPFLLKQLDDEEVSEFALDGLKQVMAIKSRVVLPYLVPKLTTPPVNTRVLAFLSSV
  AGDALTRHLGVILPAVMLALKEKLGTPDEQLEMANCQAVILSVEDDTGHRIIIEYLLEATRSPEVGMRQAAAIIL
  NIYCSRSKADYTSHLRSLVSGLIRLFNDSSPVVLEESWDALNAITKKLDAGNQLALIEELHKEIRLIGNESKGEH
  VPGFCLPKKGVTSILPVLREGVLTGSPEQKEEAAKALGLVIRLTSADALRPSVVSITGPLIRILGDRFSWNVKAA
  LLETLSLLLAKVGIALKPFLPQLQTTFTKALQDSNRGVRLKAADALGKLISIHIKVDPLFTELLNGIRAMEDPGV
  RDTMLQALRFVIQGAGAKVDAVIRKNIVSLLLSMLGHDEDNTRISSAGCLGELCAFLTEEELSAVLQQCLLADVS
  GIDWMVRHGRSLALSVAVNVAPGRLCAGRYSSDVQEMILSSATADRIPIAVSGVRGMGFLMRHHIETGGGQLPAK
  LSSLFVKCLQNPSSDIRLVAEKMIWWANKDPLPPLDPQAIKPILKALLDNTKDKNTVVRAYSDQAIVNLLKMRQG
  EEVFQSLSKILDVASLEVLNEVNRRSLKKLASQADSTEQVDDTILT

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR033173  IPR021133  IPR034085  
  • Prosite: PS50077
  • STRING: ENSP00000300648
• Other Databases: GeneCards:  GCN1  Malacards:  GCN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036003	positive regulation of transcription from RNA polymerase II promoter in response to stress	ISS	biological process
GO:0034198	cellular response to amino acid starvation	ISS	biological process
GO:0005844	polysome	ISS	cellular component
GO:1990253	cellular response to leucine starvation	ISS	biological process
GO:0006417	regulation of translation	IEA	biological process
GO:0019887	protein kinase regulator activity	IEA	molecular function
GO:0033674	positive regulation of kinase activity	IEA	biological process
GO:0043022	ribosome binding	IEA	molecular function
GO:0019901	protein kinase binding	IEA	molecular function
GO:0006417	regulation of translation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0036003	positive regulation of transcription from RNA polymerase II promoter in response to stress	IEA	biological process
GO:0034198	cellular response to amino acid starvation	IEA	biological process
GO:1990253	cellular response to leucine starvation	IEA	biological process
GO:0005844	polysome	IEA	cellular component
GO:0045296	cadherin binding	HDA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0045859	regulation of protein kinase activity	IEA	biological process
GO:0006412	translation	IEA	biological process
GO:0016020	membrane	HDA	cellular component
GO:0005737	cytoplasm	NAS	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0008135	translation factor activity, RNA binding	NAS	molecular function
GO:0005840	ribosome	NAS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881