KEGG   Homo sapiens (human): 9675
Entry
9675              CDS       T01001                                 
Symbol
TTI1, KIAA0406, NEDMIM, smg-10
Name
(RefSeq) TELO2 interacting protein 1
  KO
K20403  TELO2-interacting protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04150  mTOR signaling pathway
Network
nt06164  Kaposi sarcoma-associated herpesvirus (KSHV)
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06466  Pathways of neurodegeneration
nt06522  mTOR signaling
nt06532  Autophagy
  Element
N00155  Autophagy-vesicle nucleation/elongation/maturation, mTORC1-PI3KC3-C1
N01575  TSC1/2-mTORC1 signaling pathway
N01578  GATOR1-mTORC1 signaling pathway
N01584  FLCN-mTORC1 signaling pathway
Disease
H02461  Neurodevelopmental disorder with microcephaly
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04150 mTOR signaling pathway
    9675 (TTI1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    9675 (TTI1)
   03400 DNA repair and recombination proteins [BR:hsa03400]
    9675 (TTI1)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Chromatin remodeling factors
   ASTRA complex
    9675 (TTI1)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  Check point factors
   Triple T complex
    9675 (TTI1)
SSDB
Motif
Pfam: TTI1 DUF5331 Dopey_N VHS Cnd1 DUF5503 EFR3_ARM
Other DBs
NCBI-GeneID: 9675
NCBI-ProteinID: NP_001290386
OMIM: 614425
HGNC: 29029
Ensembl: ENSG00000101407
UniProt: O43156
Structure
LinkDB
Position
20:complement(37983021..38033456)
AA seq 1089 aa
MAVFDTPEEAFGVLRPVCVQLTKTQTVENVEHLQTRLQAVSDSALQELQQYILFPLRFTL
KTPGPKRERLIQSVVECLTFVLSSTCVKEQELLQELFSELSACLYSPSSQKPAAVSEELK
LAVIQGLSTLMHSAYGDIILTFYEPSILPRLGFAVSLLLGLAEQEKSKQIKIAALKCLQV
LLLQCDCQDHPRSLDELEQKQLGDLFASFLPGISTALTRLITGDFKQGHSIVVSSLKIFY
KTVSFIMADEQLKRISKVQAKPAVEHRVAELMVYREADWVKKTGDKLTILIKKIIECVSV
HPHWKVRLELVELVEDLLLKCSQSLVECAGPLLKALVGLVNDESPEIQAQCNKVLRHFAD
QKVVVGNKALADILSESLHSLATSLPRLMNSQDDQGKFSTLSLLLGYLKLLGPKINFVLN
SVAHLQRLSKALIQVLELDVADIKIVEERRWNSDDLNASPKTSATQPWNRIQRRYFRFFT
DERIFMLLRQVCQLLGYYGNLYLLVDHFMELYHQSVVYRKQAAMILNELVTGAAGLEVED
LHEKHIKTNPEELREIVTSILEEYTSQENWYLVTCLETEEMGEELMMEHPGLQAITSGEH
TCQVTSFLAFSKPSPTICSMNSNIWQICIQLEGIGQFAYALGKDFCLLLMSALYPVLEKA
GDQTLLISQVATSTMMDVCRACGYDSLQHLINQNSDYLVNGISLNLRHLALHPHTPKVLE
VMLRNSDANLLPLVADVVQDVLATLDQFYDKRAASFVSVLHALMAALAQWFPDTGNLGHL
QEQSLGEEGSHLNQRPAALEKSTTTAEDIEQFLLNYLKEKDVADGNVSDFDNEEEEQSVP
PKVDENDTRPDVEPPLPLQIQIAMDVMERCIHLLSDKNLQIRLKVLDVLDLCVVVLQSHK
NQLLPLAHQAWPSLVHRLTRDAPLAVLRAFKVLRTLGSKCGDFLRSRFCKDVLPKLAGSL
VTQAPISARAGPVYSHTLAFKLQLAVLQGLGPLCERLDLGEGDLNKVADACLIYLSVKQP
VKLQEAARSVFLHLMKVDPDSTWFLLNELYCPVQFTPPHPSLHPVQLHGASGQQNPYTTN
VLQLLKELQ
NT seq 3270 nt   +upstreamnt  +downstreamnt
atggcagtttttgatactcctgaggaggcctttggtgtcttacgtccagtctgtgttcag
ctcacaaagacccagacagtggagaatgtggagcatctgcagacacgactacaagctgtg
agtgacagtgcccttcaggaacttcagcagtacatcctcttccctctgcgatttaccctg
aagaccccaggtcccaaaagagagcgtttgatccaaagtgtggtggaatgcctcacattt
gtcctttcttcaacatgtgtgaaagaacaggagcttctccaggaactcttttcagaactc
tctgcttgtctgtattcacccagctcccaaaaacctgcggctgtgtccgaggagttgaaa
ttggctgtgatccagggacttagcacattaatgcactcagcttatggggacatcattctg
actttttatgagccctccattctgccacgtttaggatttgctgtatctttactgttaggc
cttgcagaacaggagaaatcaaagcaaattaaaattgctgccttaaaatgtttacaggtt
ctactcttgcagtgtgattgtcaggaccatccaaggtcattggatgaacttgaacaaaag
cagctgggggatttgtttgcctcttttttacctggaatctcaactgcactgaccaggctt
atcacaggagactttaaacaaggtcacagcattgtcgtatcttccctaaagatcttttac
aagacagtgagcttcattatggctgatgaacagctcaaaagaatctcaaaggtccaagca
aaacctgcagttgagcacagagtagcagagctgatggtttacagggaagcagattgggta
aaaaagactggcgacaagttgactatccttattaaaaagataattgagtgtgtttctgtt
cacccacactggaaggtgagactggaactggtagaacttgtggaggaccttcttttgaag
tgcagtcaatcattggtcgaatgtgctggtccccttctgaaggccttagtgggactagta
aatgatgagagtcctgaaatccaagcccagtgcaataaagttctgagacattttgcagat
caaaaagtagtggtgggcaacaaagccctcgctgacatcttgtcagaaagcctgcattcc
cttgccacatctcttcctcgcctaatgaactcccaagatgaccagggcaaattctctact
ctttccttgttacttggttatctgaaactcttgggcccaaaaataaactttgtcctcaac
tctgtggcccatctccagcggctttccaaagcactcatccaagttctagagctagacgtg
gctgacatcaagattgttgaggaacggcgttggaactctgatgatctgaatgcttctcca
aagacctcagccacacagccttggaaccgcatccagaggagatatttccgcttcttcact
gatgagagaatcttcatgctcttgaggcaggtttgtcagctacttggttattatgggaat
ctttatttgcttgtggatcactttatggaactttaccatcaatctgtggtttaccggaag
caagctgccatgatccttaatgaactggttacaggggctgctgggctggaggttgaggat
cttcacgaaaaacatattaaaacaaacccagaagaactgagagagattgtgacatctata
cttgaagaatacacaagtcaagaaaattggtatttggttacctgtcttgaaactgaggaa
atgggagaggagctgatgatggagcacccaggcctccaagccatcacgtctggtgaacac
acctgccaagttacatcttttctagccttctcaaagccaagtcccactatttgctccatg
aacagtaacatctggcaaatatgcattcagttggaaggaattggccagtttgcatatgca
ctaggaaaagacttctgtttgctcttgatgtcagccctttatccagtactggagaaggct
ggagaccaaaccctactcattagtcaggtggctaccagcaccatgatggacgtttgccgt
gcttgtggctacgactccctgcagcacctgatcaatcaaaattcagactatttagtgaat
gggatctctttaaatctgcgtcatctggctctgcatcctcataccccaaaggtcctggaa
gtcatgctgcggaactcagatgctaacctgcttcctttggtggcagatgtggttcaagat
gtcttggccaccctggaccaattttacgataagagagctgcttcctttgtcagcgttctg
catgctctgatggcagcattagcccagtggttcccagacacaggtaatcttgggcacctc
caagagcaaagtttaggagaagagggaagtcatttgaaccaaagaccagcagctcttgag
aagagcaccaccacagctgaagacatcgaacagtttttgctgaactacctcaaagagaag
gatgtggcagatggaaatgtctcggattttgataatgaagaagaggaacagtcagtccct
cccaaagtggatgagaatgacacccgtccagatgtggagccaccactgccattgcagatc
caaatagccatggacgtgatggaacgctgcatccacttgttgtcagataaaaatctgcaa
atccgcctgaaggtcttggatgtgctggatctgtgtgtggttgttcttcagtcccacaaa
aaccagctgcttcccttggctcatcaggcctggccctcgctcgttcaccgactcacacgg
gacgcccccctggcagtgcttagagccttcaaggttttacgtaccctgggaagcaagtgt
ggtgactttcttcgcagccggttctgcaaagatgtcctgccaaagctggctggctcccta
gtcacccaggcccccatcagtgccagggctggaccagtttactcgcacacgctggccttc
aagttgcagctggctgtcttacagggcctgggccccctctgtgagagactggacctaggt
gagggtgacctgaataaagtggctgatgcctgcttgatttacctcagtgtcaaacagccc
gtgaaattacaagaggctgccaggagcgtcttcctccacttgatgaaggtggacccagac
tccacctggttcctcctgaacgagctttactgccccgtgcagttcacacctccccacccc
agcctccaccctgtgcagctgcacggggccagcgggcagcagaacccctacacgaccaac
gtgctccagctgctcaaggagctgcagtga

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