KEGG   Homo sapiens (human): 10641Help
Entry
10641             CDS       T01001                                 

Gene name
NPRL2, FFEVF2, NPR2, NPR2L, TUSC4
Definition
(RefSeq) NPR2 like, GATOR1 complex subunit
  KO
K20405  nitrogen permease regulator 2-like protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04150  mTOR signaling pathway
Disease
H02214  Familial focal epilepsy with variable foci
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04150 mTOR signaling pathway
    10641 (NPRL2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    10641 (NPRL2)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Other autophagy associated proteins
   GATOR1 complex
    10641 (NPRL2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: NPR2
Motif
Other DBs
NCBI-GeneID: 10641
NCBI-ProteinID: NP_006536
OMIM: 607072
HGNC: 24969
Ensembl: ENSG00000114388
Vega: OTTHUMG00000156864
Pharos: Q8WTW4(Tbio)
UniProt: Q8WTW4
Structure
PDB: 

Position
3p21.31
AA seq 380 aa AA seqDB search
MGSGCRIECIFFSEFHPTLGPKITYQVPEDFISRELFDTVQVYIITKPELQNKLITVTAM
EKKLIGCPVCIEHKKYSRNALLFNLGFVCDAQAKTCALEPIVKKLAGYLTTLELESSFVS
MEESKQKLVPIMTILLEELNASGRCTLPIDESNTIHLKVIEQRPDPPVAQEYDVPVFTKD
KEDFFNSQWDLTTQQILPYIDGFRHIQKISAEADVELNLVRIAIQNLLYYGVVTLVSILQ
YSNVYCPTPKVQDLVDDKSLQEACLSYVTKQGHKRASLRDVFQLYCSLSPGTTVRDLIGR
HPQQLQHVDERKLIQFGLMKNLIRRLQKYPVRVTREEQSHPARLYTGCHSYDEICCKTGM
SYHELDERLENDPNIIICWK
NT seq 1143 nt NT seq  +upstreamnt  +downstreamnt
atgggcagcggctgccgcatcgaatgcatattcttcagcgagttccaccccacgctggga
cccaagatcacctatcaggtccctgaagacttcatctcccgagagctgtttgacacagtc
caagtgtacatcatcaccaagccagagctgcagaacaagcttatcactgtcacagctatg
gaaaagaagctgatcggctgtcctgtgtgcatcgaacacaagaagtacagccgcaatgct
ctcctcttcaacctgggcttcgtgtgtgatgcccaggccaagacctgcgccctcgagccc
attgttaaaaagctggctggctatctgaccacactagagctagagagcagcttcgtgtcc
atggaggagagcaagcagaagttggtgcccatcatgaccatcttgctggaggagctaaat
gcctcaggccggtgcactctgcccattgatgagtccaacaccatccacttgaaggtgatt
gagcagcggccagaccctccggtggcccaggagtatgatgtacctgtctttaccaaagac
aaggaggatttcttcaactcacagtgggacctcactacacaacaaatcctgccctacatt
gatgggttccgccacatccagaagatttcagcagaggcagatgtggagctcaacctggtg
cgcattgctatccagaacctgctgtactacggcgttgtgacactggtgtccatcctccag
tactccaatgtatactgcccaacgcccaaggtccaggacctggtagatgacaagtccctg
caagaggcatgtctatcctacgtgaccaagcaagggcacaagagggccagtctccgggat
gtgttccagctatactgcagcctgagccctggcactaccgtgcgagacctcattggccgc
cacccccagcagctgcagcatgttgatgaacggaagctgatccagttcgggcttatgaag
aacctcatcaggcgactacagaagtatcctgtgcgggtgactcgggaagagcagagccac
cctgcccggctttatacaggctgccacagctatgacgagatctgctgcaagacaggcatg
agctaccatgagctggatgagcggcttgaaaatgaccccaacatcatcatctgctggaag
tga

KEGG   Homo sapiens (human): 8131Help
Entry
8131              CDS       T01001                                 

Gene name
NPRL3, C16orf35, CGTHBA, FFEVF3, HS-40, MARE, NPR3, RMD11
Definition
(RefSeq) NPR3 like, GATOR1 complex subunit
  KO
K20406  nitrogen permease regulator 3-like protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04150  mTOR signaling pathway
Disease
H02214  Familial focal epilepsy with variable foci
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04150 mTOR signaling pathway
    8131 (NPRL3)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    8131 (NPRL3)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Other autophagy associated proteins
   GATOR1 complex
    8131 (NPRL3)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: NPR3 NPR2
Motif
Other DBs
NCBI-GeneID: 8131
NCBI-ProteinID: NP_001070818
OMIM: 600928
HGNC: 14124
Ensembl: ENSG00000103148
Vega: OTTHUMG00000047792
Pharos: Q12980(Tdark)
UniProt: Q12980 Q9BTE2
Structure
PDB: 

Position
16p13.3
AA seq 569 aa AA seqDB search
MRDNTSPISVILVSSGSRGNKLLFRYPFQRSQEHPASQTSKPRSRYAASNTGDHADEQDG
DSRFSDVILATILATKSEMCGQKFELKIDNVRFVGHPTLLQHALGQISKTDPSPKREAPT
MILFNVVFALRANADPSVINCLHNLSRRIATVLQHEERRCQYLTREAKLILALQDEVSAM
ADGNEGPQSPFHHILPKCKLARDLKEAYDSLCTSGVVRLHINSWLEVSFCLPHKIHYAAS
SLIPPEAIERSLKAIRPYHALLLLSDEKSLLGELPIDCSPALVRVIKTTSAVKNLQQLAQ
DADLALLQVFQLAAHLVYWGKAIIIYPLCENNVYMLSPNASVCLYSPLAEQFSHQFPSHD
LPSVLAKFSLPVSLSEFRNPLAPAVQETQLIQMVVWMLQRRLLIQLHTYVCLMASPSEEE
PRPREDDVPFTARVGGRSLSTPNALSFGSPTSSDDMTLTSPSMDNSSAELLPSGDSPLNQ
RMTENLLASLSEHERAAILSVPAAQNPEDLRMFARLLHYFRGRHHLEEIMYNENTRRSQL
LMLFDKFRSVLVVTTHEDPVIAVFQALLP
NT seq 1710 nt NT seq  +upstreamnt  +downstreamnt
atgcgggacaacaccagccccatcagcgtgattctggtgagctcggggagcaggggcaat
aagctgctgttcaggtaccccttccagagaagccaggagcacccggcgtcccagacaagt
aagccgcgtagcagatacgctgccagcaacacgggcgaccatgctgatgagcaggacggc
gattccaggttttcagatgttattctggcaacaattttggcaaccaagtctgaaatgtgt
ggccaaaaatttgaactgaagattgataatgtgcgatttgttgggcacccaacactgcta
cagcatgctctggggcagatctccaaaacagatccttccccgaagagggaagcacctact
atgattctttttaatgtggtgtttgcactgagggccaacgcagacccgtcagtgataaac
tgtctgcataacctgtcccgtcgtatcgccaccgtgctgcagcacgaggagcgccgctgc
cagtacctcacccgggaggccaagctgatcctggcgctccaggatgaggtgtccgccatg
gctgatggaaatgaaggtcctcagtccccattccatcacatcctgcccaagtgcaagctg
gccagggacctcaaggaagcttatgacagcctgtgcacgtcgggcgtagttcggcttcac
atcaacagctggctggaggtgagcttctgcctgccccacaagatccactatgcggcctcc
agtctgatccccccagaggccatcgaacggagcctgaaagccatccgcccctaccatgcc
ctgctgctgctcagtgatgagaagtccttgctgggtgagcttcctattgactgctcccct
gccctagtgcgggtgatcaagaccacatctgctgtgaagaacctgcagcagctagcccaa
gatgcggacctggccttgctgcaggttttccagcttgcagctcatctggtgtactggggc
aaggccatcatcatctacccgctgtgtgagaacaacgtctacatgctgtctcccaatgcc
agcgtatgtctgtactccccgctggccgagcagttctcccaccagttcccatctcatgac
ctgccgtccgttcttgccaagttctccttgccggtctccttgtcagaatttaggaatccc
ctggcccccgctgtgcaggagacccagctcatccagatggtggtgtggatgctgcagcgc
cggcttctcatccagctgcacacctatgtctgcctgatggcctcacccagcgaggaggag
ccccgtccgcgagaggacgacgtccccttcactgcccgggtcggcggtcgcagcctcagc
acgcccaacgccctcagctttggctccccaaccagcagcgatgacatgaccctcaccagc
cccagcatggacaactccagcgcagagctacttcccagcggggactcgccactgaaccag
aggatgacggagaacctgctggccagcctgtcggagcatgaacgcgcagccatcctcagt
gtacccgcagcccagaaccctgaggacctccgcatgtttgccaggctccttcactacttc
cgcggccgccaccacctggaggagattatgtacaacgagaacacgcggcgctcccagctg
ctcatgctgtttgacaagttccgcagcgtgctggtggtgaccacccacgaggaccctgtc
attgccgtcttccaggctctgctcccctga

KEGG   Homo sapiens (human): 9681Help
Entry
9681              CDS       T01001                                 

Gene name
DEPDC5, DEP.5, FFEVF, FFEVF1
Definition
(RefSeq) DEP domain containing 5
  KO
K20404  DEP domain-containing protein 5
Organism
hsa  Homo sapiens (human)
Pathway
hsa04150  mTOR signaling pathway
Disease
H02214  Familial focal epilepsy with variable foci
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04150 mTOR signaling pathway
    9681 (DEPDC5)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    9681 (DEPDC5)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Other autophagy associated proteins
   GATOR1 complex
    9681 (DEPDC5)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: IML1 DEP FGGY_N
Motif
Other DBs
NCBI-GeneID: 9681
NCBI-ProteinID: NP_001229825
OMIM: 614191
HGNC: 18423
Ensembl: ENSG00000100150
Vega: OTTHUMG00000030926
Pharos: O75140(Tbio)
UniProt: O75140
Structure
PDB: 

Position
22q12.2-q12.3
AA seq 1603 aa AA seqDB search
MRTTKVYKLVIHKKGFGGSDDELVVNPKVFPHIKLGDIVEIAHPNDEYSPLLLQVKSLKE
DLQKETISVDQTVTQVFRLRPYQDVYVNVVDPKDVTLDLVELTFKDQYIGRGDMWRLKKS
LVSTCAYITQKVEFAGIRAQAGELWVKNEKVMCGYISEDTRVVFRSTSAMVYIFIQMSCE
MWDFDIYGDLYFEKAVNGFLADLFTKWKEKNCSHEVTVVLFSRTFYDAKSVDEFPEINRA
SIRQDHKGRFYEDFYKVVVQNERREEWTSLLVTIKKLFIQYPVLVRLEQAEGFPQGDNST
SAQGNYLEAINLSFNVFDKHYINRNFDRTGQMSVVITPGVGVFEVDRLLMILTKQRMIDN
GIGVDLVCMGEQPLHAVPLFKLHNRSAPRDSRLGDDYNIPHWINHSFYTSKSQLFCNSFT
PRIKLAGKKPASEKAKNGRDTSLGSPKESENALPIQVDYDAYDAQVFRLPGPSRAQCLTT
CRSVRERESHSRKSASSCDVSSSPSLPSRTLPTEEVRSQASDDSSLGKSANILMIPHPHL
HQYEVSSSLGYTSTRDVLENMMEPPQRDSSAPGRFHVGSAESMLHVRPGGYTPQRALINP
FAPSRMPMKLTSNRRRWMHTFPVGPSGEAIQIHHQTRQNMAELQGSGQRDPTHSSAELLE
LAYHEAAGRHSNSRQPGDGMSFLNFSGTEELSVGLLSNSGAGMNPRTQNKDSLEDSVSTS
PDPILTLSAPPVVPGFCCTVGVDWKSLTTPACLPLTTDYFPDRQGLQNDYTEGCYDLLPE
ADIDRRDEDGVQMTAQQVFEEFICQRLMQGYQIIVQPKTQKPNPAVPPPLSSSPLYSRGL
VSRNRPEEEDQYWLSMGRTFHKVTLKDKMITVTRYLPKYPYESAQIHYTYSLCPSHSDSE
FVSCWVEFSHERLEEYKWNYLDQYICSAGSEDFSLIESLKFWRTRFLLLPACVTATKRIT
EGEAHCDIYGDRPRADEDEWQLLDGFVRFVEGLNRIRRRHRSDRMMRKGTAMKGLQMTGP
ISTHSLESTAPPVGKKGTSALSALLEMEASQKCLGEQQAAVHGGKSSAQSAESSSVAMTP
TYMDSPRKDGAFFMEFVRSPRTASSAFYPQVSVDQTATPMLDGTSLGICTGQSMDRGNSQ
TFGNSQNIGEQGYSSTNSSDSSSQQLVASSLTSSSTLTEILEAMKHPSTGVQLLSEQKGL
SPYCFISAEVVHWLVNHVEGIQTQAMAIDIMQKMLEEQLITHASGEAWRTFIYGFYFYKI
VTDKEPDRVAMQQPATTWHTAGVDDFASFQRKWFEVAFVAEELVHSEIPAFLLPWLPSRP
ASYASRHSSFSRSFGGRSQAAALLAATVPEQRTVTLDVDVNNRTDRLEWCSCYYHGNFSL
NAAFEIKLHWMAVTAAVLFEMVQGWHRKATSCGFLLVPVLEGPFALPSYLYGDPLRAQLF
IPLNISCLLKEGSEHLFDSFEPETYWDRMHLFQEAIAHRFGFVQDKYSASAFNFPAENKP
QYIHVTGTVFLQLPYSKRKFSGQQRRRRNSTSSTNQNMFCEERVGYNWAYNTMLTKTWRS
SATGDEKFADRLLKDFTDFCINRDNRLVTFWTSCLEKMHASAP
NT seq 4812 nt NT seq  +upstreamnt  +downstreamnt
atgagaacaacaaaggtctacaaactcgtcatccacaagaagggctttgggggcagtgat
gatgagctagttgtgaaccccaaagtgttccctcacatcaagcttggagacattgtagag
attgcacaccccaacgatgaatacagccctctgcttttgcaggtcaagtctcttaaggaa
gatttacagaaggaaactatcagtgtggaccagactgtgactcaagtgttccggctgaga
ccttatcaggatgtctatgttaatgtcgtagaccctaaggatgtgacccttgacctagtg
gaattaacttttaaggatcagtatattggccgtggggatatgtggcgactaaagaaaagt
ttggtcagcacatgtgcctatatcacccagaaggtggagtttgctggcatcagagcacag
gctggtgaactgtgggttaagaatgagaaggtcatgtgtggctacatcagtgaagatacc
agggtggtgtttcgttctacgtcggctatggtttacatatttattcagatgagctgtgaa
atgtgggattttgatatttatggggatttgtattttgagaaagctgtgaatggtttcctt
gctgatctatttaccaagtggaaggagaagaactgtagtcatgaagtgacagtggtcctg
ttttctagaactttctatgatgcaaaatctgttgatgaatttcctgaaataaaccgagcc
tcaattcgacaggatcacaaggggagattctatgaagacttttacaaagtggtggtgcag
aatgagagaagagaagaatggacttcacttctcgtaaccattaaaaaactcttcatccag
tatccagtgttggtgcgactggaacaggcagagggctttcctcaaggagataattctacc
tcagcacaaggaaactacctggaggccatcaatctgtcattcaatgtgtttgataagcac
tacatcaaccgcaactttgaccgaactgggcagatgtcagtggtgatcacgcccggggtg
ggtgtctttgaagtggaccgcctactcatgatcctgaccaagcagcggatgatagataat
ggaattggtgtggatttggtgtgcatgggagagcaaccgttacatgctgtcccattgttc
aagctccataatcggagtgctccccgtgattctcgtctgggcgatgactataatatccct
cactggataaaccacagtttctacacatccaaaagccagctcttttgtaatagtttcacc
ccacgaataaaactggcaggaaagaagcccgcctctgagaaagcaaaaaatggccgtgat
acatctctcgggagtccaaaagaatctgagaacgcccttcccatccaagtagattatgac
gcctatgacgctcaagtgttcaggctgcccggcccatcccgggcccagtgcctcaccacc
tgcagatctgtgcgagagcgagagagtcacagtcgaaagagtgccagctcctgtgatgtt
tcatccagcccttccctaccaagccgcacactgcccactgaggaagtgaggagccaggct
tctgacgacagctccctaggcaagagtgccaacatcctgatgatcccacacccccacctg
caccagtatgaagtcagcagctccttgggatacaccagcactcgagatgtcctggagaac
atgatggagccaccacagcgagactccagtgcaccagggaggtttcacgttggcagtgca
gaatccatgctgcatgttcgacctggtggatacacgccccagagagcactgattaacccc
ttcgctccctctcggatgcccatgaagcttacgtccaacagaaggcgctggatgcacact
tttcctgtggggccatccggagaagccatccagatccaccaccagacccgacagaatatg
gcggagctacaaggcagcgggcagagggatccaactcactcctctgcagagctgctggag
ttagcatatcatgaagctgctggaaggcacagcaattcccgccagcctggtgacggcatg
tccttcttgaacttcagtggaacagaggagctttctgtcggcctgcttagcaacagtggt
gcaggtatgaatcctaggacccagaataaggattctctagaggacagtgtttctacctct
ccagacccaattctgacactgtctgctccccctgtagtgccaggcttctgttgcacagtt
ggagtggactggaagtctctcactactccggcgtgcctcccccttaccaccgactacttc
cctgaccgccagggcctgcagaatgactacacagagggctgttatgatctccttccagaa
gcagacatcgacaggagggacgaagatggtgtgcagatgacagcccagcaggtatttgaa
gagtttatttgccaacgtctcatgcagggctaccaaatcatagtgcagcccaagacacag
aaacccaatcctgctgtcccgcccccgctgagcagtagcccactctatagccgaggcctt
gtgtcccgaaaccgccctgaggaggaggaccagtattggctgagtatgggcagaacgttc
cacaaagtgacgctgaaggataagatgatcacagtgacgcgataccttcccaagtatcct
tatgaatctgcccagatccactacacctacagcctctgtccttcccactcagactcagag
ttcgtctcctgctgggtggaattctcccacgaacggctggaggagtacaagtggaattac
ttagatcagtatatctgttctgccggctctgaagacttcagcttaattgagtccctgaag
ttctggaggacccgcttcctgctgctgccagcctgtgtcaccgccaccaagcgcatcacg
gagggggaggcccactgcgacatctatggggacaggccccgtgcagacgaggacgagtgg
caactcctggatggttttgtccgctttgtggagggcttgaatcgcattcgcaggcggcat
cgctcggatcgcatgatgcggaaagggaccgccatgaaaggcttgcagatgactgggccc
atttccacgcattctctggagtcaactgcacccccagtggggaagaagggaacctcagct
ctctctgccctgttggagatggaggccagtcagaagtgcctgggagaacagcaggcagct
gtgcatggtgggaagagctccgcccagtcagccgagagcagcagcgttgccatgactccc
acctacatggacagcccacgaaaggacggggccttctttatggagtttgtccgcagccca
cgcacagcatcgtccgccttctaccctcaggtatctgtggaccaaacagccactcctatg
ttggacggcaccagtttgggcatatgcacaggccaatccatggacagaggcaacagccag
acctttgggaactcccagaacataggagaacagggctactcctccacaaactccagtgac
agcagctctcagcagctggtggcaagctccttgacctcatcctctaccctgacagagatc
ctggaagccatgaagcacccctcgacaggagtccagctgctctctgaacagaagggcctc
tcaccgtactgcttcatcagcgcggaggtggtacactggttggtgaaccacgtggagggg
atccagacacaggcgatggccattgacatcatgcagaaaatgctggaagagcagctcatc
acacatgcatctggcgaagcctggcggaccttcatctacggcttctatttctacaagata
gtaacggacaaagagcccgaccgagtggccatgcagcagcccgccaccacctggcacaca
gcaggagtggacgacttcgccagcttccagcgcaagtggtttgaggtggcctttgtggca
gaagagctcgtgcactctgagattcctgcctttctcctgccctggctgcctagccggcca
gcctcctatgcaagtaggcacagctcctttagccgaagttttggaggacggagccaggcg
gcagcacttttagctgccactgtcccagagcagaggactgtgaccctggatgttgacgtg
aacaaccgcacagaccggctggagtggtgcagctgttattaccatggcaacttttctctg
aatgcagcctttgagatcaagctgcactggatggcggtgaccgcagcagtactcttcgag
atggtccaaggttggcatcggaaagccacctcctgtggcttcttgttagtcccagttttg
gaggggccttttgcactgcccagttacctgtatggcgacccccttcgtgcccagctcttc
atcccactcaacatcagctgcttgctcaaggagggcagcgagcacctgtttgatagcttt
gaacccgaaacgtactgggatcgaatgcacctcttccaggaagccattgcacacaggttt
gggtttgtacaagataaatattctgcctctgcttttaacttccctgctgagaacaagcct
cagtatatccacgttacaggaacagtgtttctgcagctgccctactccaagcgcaagttc
tcagggcagcagcggcggcggcggaactccaccagctccaccaaccagaacatgttctgc
gaggagcgggtcggctacaactgggcctacaacaccatgctcaccaaaacatggcgctcc
agcgccacaggggatgaaaagtttgctgatcggctgctgaaggacttcacggacttctgc
atcaaccgtgacaaccggctggtcacgttctggacaagttgcctggagaagatgcatgcc
agtgccccgtga

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