KEGG   Homo sapiens (human): 9915
Entry
9915              CDS       T01001                                 
Symbol
ARNT2, WEDAS, bHLHe1
Name
(RefSeq) aryl hydrocarbon receptor nuclear translocator 2
  KO
K15589  aryl hydrocarbon receptor nuclear translocator 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa05200  Pathways in cancer
hsa05202  Transcriptional misregulation in cancer
hsa05211  Renal cell carcinoma
Network
nt06240  Transcription
  Element
N00136  EWSR1-ATF1 fusion to transcriptional activation
Disease
H01797  Webb-Dattani syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    9915 (ARNT2)
   05202 Transcriptional misregulation in cancer
    9915 (ARNT2)
  09162 Cancer: specific types
   05211 Renal cell carcinoma
    9915 (ARNT2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    9915 (ARNT2)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Basic helix-loop-helix (bHLH)
   Factors with PAS domain
    9915 (ARNT2)
SSDB
Motif
Pfam: PAS_3 PAS PAS_11 HLH PAS_9 PAS_4 PAS_2
Other DBs
NCBI-GeneID: 9915
NCBI-ProteinID: NP_055677
OMIM: 606036
HGNC: 16876
Ensembl: ENSG00000172379
Vega: OTTHUMG00000165478
Pharos: Q9HBZ2(Tbio)
UniProt: Q9HBZ2 X5DQN9 Q7Z3A3 Q86TN1
LinkDB
Position
15:80404382..80597933
AA seq 717 aa
MATPAAVNPPEMASDIPGSVTLPVAPMAATGQVRMAGAMPARGGKRRSGMDFDDEDGEGP
SKFSRENHSEIERRRRNKMTQYITELSDMVPTCSALARKPDKLTILRMAVSHMKSMRGTG
NKSTDGAYKPSFLTEQELKHLILEAADGFLFVVAAETGRVIYVSDSVTPVLNQPQSEWFG
STLYEQVHPDDVEKLREQLCTSENSMTGRILDLKTGTVKKEGQQSSMRMCMGSRRSFICR
MRCGNAPLDHLPLNRITTMRKRFRNGLGPVKEGEAQYAVVHCTGYIKAWPPAGMTIPEED
ADVGQGSKYCLVAIGRLQVTSSPVCMDMNGMSVPTEFLSRHNSDGIITFVDPRCISVIGY
QPQDLLGKDILEFCHPEDQSHLRESFQQVVKLKGQVLSVMYRFRTKNREWMLIRTSSFTF
QNPYSDEIEYIICTNTNVKQLQQQQAELEVHQRDGLSSYDLSQVPVPNLPAGVHEAGKSV
EKADAIFSQERDPRFAEMFAGISASEKKMMSSASAAGTQQIYSQGSPFPSGHSGKAFSSS
VVHVPGVNDIQSSSSTGQNMSQISRQLNQSQVAWTGSRPPFPGQQIPSQSSKTQSSPFGI
GTSHTYPADPSSYSPLSSPATSSPSGNAYSSLANRTPGFAESGQSSGQFQGRPSEVWSQW
QSQHHGQQSGEQHSHQQPGQTEVFQDMLPMPGDPTQGTGNYNIEDFADLGMFPPFSE
NT seq 2154 nt   +upstreamnt  +downstreamnt
atggcaaccccggcggcggtcaaccctccggaaatggcttcagacatacctggatctgtg
acgttgcccgttgcccccatggcggccaccggacaggtgaggatggcgggggccatgcct
gcccgtggaggaaagcggcgttccggaatggacttcgatgatgaagatggtgaaggcccc
agtaaattttcaagagagaatcatagtgaaatcgaaaggcgcagacggaacaagatgact
cagtacatcacggagctctccgacatggtccccacatgcagcgcactggctcggaagcca
gacaagctcaccatcctccgcatggccgtctcgcacatgaagtccatgaggggtacaggg
aacaagtccaccgatggcgcgtacaagccttccttcctcacagagcaggaactgaagcat
ctcatccttgaagcagctgatggatttctgtttgtggtggctgctgagacagggcgagtg
atttatgtgtctgactccgtcacccctgttctgaaccagccccagtcagagtggtttggg
agcacactgtatgaacaggtgcatcctgatgacgtggagaagctgagagagcaactgtgc
acctcagaaaactcaatgacaggccggatcttggacctgaagactgggacggtcaagaaa
gaagggcagcagtcatccatgaggatgtgcatgggctcgcggcggtctttcatctgcagg
atgaggtgtggaaatgctcctttggaccaccttcctctaaacagaataaccaccatgagg
aaaaggttcaggaatggccttggccctgtgaaagaaggagaagcccaatatgctgtggtc
cactgtacaggatacatcaaggcctggccaccagcaggaatgaccatacctgaagaagac
gctgatgtgggacaaggcagtaaatattgcctcgtggcaattgggagactccaggtgacc
agctctcctgtatgcatggacatgaatgggatgtcggtgcccacagagttcttatcccgg
cataactccgatggaatcatcacatttgtggatccaagatgtatcagtgtgattggctac
caaccccaggatcttctgggaaaggacattttggaattctgccaccctgaggatcaaagc
catctgcgtgagagcttccagcaggtggttaagctgaaaggccaagtcctgtcggtcatg
tatcgatttcgcaccaagaaccgggagtggatgttgatccgcaccagcagcttcacattc
cagaatccctattctgatgagattgagtacatcatctgcaccaacaccaacgtcaagcaa
cttcagcaacagcaggcagaattggaagtgcaccagagagatggattgtcatcgtatgac
ttatcccaggtccccgtccccaacctaccagccggtgttcatgaggccgggaagtccgtg
gaaaaggcggatgcaatcttctcccaggaaagagatcctcggtttgctgaaatgtttgca
ggaattagtgcatcggagaagaagatgatgagctcagcctctgcagcaggaacccagcag
atctactcccaaggaagcccatttccctctggacactccgggaaggccttcagctcttca
gtggttcatgtgcctggagtgaatgatattcagtcctcttcttccacgggccagaacatg
tcccaaatctcccggcagctaaaccagagtcaggtggcatggacagggagtcgtccgccc
tttccgggacagcaaatcccatctcagtccagcaagactcagtcatctccctttgggatt
ggaacgagccacacctacccggcagacccctcttcctacagccccctctccagcccagct
acctcctcgccaagtgggaatgcctactccagtcttgccaacaggactccagggttcgct
gaaagtggacaaagtagcgggcagttccaagggcggccctcggaagtctggtcgcagtgg
caaagccagcaccatggccagcagagcggtgagcagcactcccaccagcagcccggtcag
actgaagtgttccaggacatgctgcccatgccaggagatccaacccaggggactggcaac
tataacatcgaagactttgccgacctgggcatgtttccaccgttttctgagtag

KEGG   Homo sapiens (human): 472
Entry
472               CDS       T01001                                 
Symbol
ATM, AT1, ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1
Name
(RefSeq) ATM serine/threonine kinase
  KO
K04728  serine-protein kinase ATM [EC:2.7.11.1]
Organism
hsa  Homo sapiens (human)
Pathway
hsa01524  Platinum drug resistance
hsa03440  Homologous recombination
hsa04064  NF-kappa B signaling pathway
hsa04068  FoxO signaling pathway
hsa04110  Cell cycle
hsa04115  p53 signaling pathway
hsa04210  Apoptosis
hsa04218  Cellular senescence
hsa05131  Shigellosis
hsa05165  Human papillomavirus infection
hsa05166  Human T-cell leukemia virus 1 infection
hsa05170  Human immunodeficiency virus 1 infection
hsa05202  Transcriptional misregulation in cancer
hsa05206  MicroRNAs in cancer
Network
nt06130  Cell cycle (viruses)
nt06160  Human T-cell leukemia virus 1 (HTLV-1)
nt06161  Human immunodeficiency virus type 1 (HIV-1)
nt06166  Human papillomavirus (HPV)
nt06230  Cell cycle
nt06240  Transcription
  Element
N00136  EWSR1-ATF1 fusion to transcriptional activation
N00347  p300-p21-Cell cycle G1/S
N00372  HPV E7 to p300-p21-Cell cycle G1/S
N00455  CDC25-Cell cycle G2/M
N00499  ATR-p21-Cell cycle G2/M
Disease
H00005  Chronic lymphocytic leukemia
H00064  Ataxia telangiectasia
H00094  Immunodeficiency associated with DNA repair defects
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09124 Replication and repair
   03440 Homologous recombination
    472 (ATM)
 09130 Environmental Information Processing
  09132 Signal transduction
   04064 NF-kappa B signaling pathway
    472 (ATM)
   04068 FoxO signaling pathway
    472 (ATM)
 09140 Cellular Processes
  09143 Cell growth and death
   04110 Cell cycle
    472 (ATM)
   04210 Apoptosis
    472 (ATM)
   04115 p53 signaling pathway
    472 (ATM)
   04218 Cellular senescence
    472 (ATM)
 09160 Human Diseases
  09161 Cancer: overview
   05202 Transcriptional misregulation in cancer
    472 (ATM)
   05206 MicroRNAs in cancer
    472 (ATM)
  09172 Infectious disease: viral
   05166 Human T-cell leukemia virus 1 infection
    472 (ATM)
   05170 Human immunodeficiency virus 1 infection
    472 (ATM)
   05165 Human papillomavirus infection
    472 (ATM)
  09171 Infectious disease: bacterial
   05131 Shigellosis
    472 (ATM)
  09176 Drug resistance: antineoplastic
   01524 Platinum drug resistance
    472 (ATM)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01001 Protein kinases [BR:hsa01001]
    472 (ATM)
  09182 Protein families: genetic information processing
   03032 DNA replication proteins [BR:hsa03032]
    472 (ATM)
   03400 DNA repair and recombination proteins [BR:hsa03400]
    472 (ATM)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.11  Protein-serine/threonine kinases
    2.7.11.1  non-specific serine/threonine protein kinase
     472 (ATM)
Protein kinases [BR:hsa01001]
 Serine/threonine kinases: Other
  PIKK family [OT]
   472 (ATM)
DNA replication proteins [BR:hsa03032]
 Eukaryotic type
  DNA Replication Termination Factors
   Other termination factors
    472 (ATM)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  Check point factors
   Other check point factors
    472 (ATM)
SSDB
Motif
Pfam: PI3_PI4_kinase FAT TAN FATC
Other DBs
NCBI-GeneID: 472
NCBI-ProteinID: NP_000042
OMIM: 607585
HGNC: 795
Ensembl: ENSG00000149311
Vega: OTTHUMG00000166480
Pharos: Q13315(Tchem)
UniProt: Q13315 A0A024R3C7
Structure
LinkDB
Position
11:108223067..108369102
AA seq 3056 aa
MSLVLNDLLICCRQLEHDRATERKKEVEKFKRLIRDPETIKHLDRHSDSKQGKYLNWDAV
FRFLQKYIQKETECLRIAKPNVSASTQASRQKKMQEISSLVKYFIKCANRRAPRLKCQEL
LNYIMDTVKDSSNGAIYGADCSNILLKDILSVRKYWCEISQQQWLELFSVYFRLYLKPSQ
DVHRVLVARIIHAVTKGCCSQTDGLNSKFLDFFSKAIQCARQEKSSSGLNHILAALTIFL
KTLAVNFRIRVCELGDEILPTLLYIWTQHRLNDSLKEVIIELFQLQIYIHHPKGAKTQEK
GAYESTKWRSILYNLYDLLVNEISHIGSRGKYSSGFRNIAVKENLIELMADICHQVFNED
TRSLEISQSYTTTQRESSDYSVPCKRKKIELGWEVIKDHLQKSQNDFDLVPWLQIATQLI
SKYPASLPNCELSPLLMILSQLLPQQRHGERTPYVLRCLTEVALCQDKRSNLESSQKSDL
LKLWNKIWCITFRGISSEQIQAENFGLLGAIIQGSLVEVDREFWKLFTGSACRPSCPAVC
CLTLALTTSIVPGTVKMGIEQNMCEVNRSFSLKESIMKWLLFYQLEGDLENSTEVPPILH
SNFPHLVLEKILVSLTMKNCKAAMNFFQSVPECEHHQKDKEELSFSEVEELFLQTTFDKM
DFLTIVRECGIEKHQSSIGFSVHQNLKESLDRCLLGLSEQLLNNYSSEITNSETLVRCSR
LLVGVLGCYCYMGVIAEEEAYKSELFQKAKSLMQCAGESITLFKNKTNEEFRIGSLRNMM
QLCTRCLSNCTKKSPNKIASGFFLRLLTSKLMNDIADICKSLASFIKKPFDRGEVESMED
DTNGNLMEVEDQSSMNLFNDYPDSSVSDANEPGESQSTIGAINPLAEEYLSKQDLLFLDM
LKFLCLCVTTAQTNTVSFRAADIRRKLLMLIDSSTLEPTKSLHLHMYLMLLKELPGEEYP
LPMEDVLELLKPLSNVCSLYRRDQDVCKTILNHVLHVVKNLGQSNMDSENTRDAQGQFLT
VIGAFWHLTKERKYIFSVRMALVNCLKTLLEADPYSKWAILNVMGKDFPVNEVFTQFLAD
NHHQVRMLAAESINRLFQDTKGDSSRLLKALPLKLQQTAFENAYLKAQEGMREMSHSAEN
PETLDEIYNRKSVLLTLIAVVLSCSPICEKQALFALCKSVKENGLEPHLVKKVLEKVSET
FGYRRLEDFMASHLDYLVLEWLNLQDTEYNLSSFPFILLNYTNIEDFYRSCYKVLIPHLV
IRSHFDEVKSIANQIQEDWKSLLTDCFPKILVNILPYFAYEGTRDSGMAQQRETATKVYD
MLKSENLLGKQIDHLFISNLPEIVVELLMTLHEPANSSASQSTDLCDFSGDLDPAPNPPH
FPSHVIKATFAYISNCHKTKLKSILEILSKSPDSYQKILLAICEQAAETNNVYKKHRILK
IYHLFVSLLLKDIKSGLGGAWAFVLRDVIYTLIHYINQRPSCIMDVSLRSFSLCCDLLSQ
VCQTAVTYCKDALENHLHVIVGTLIPLVYEQVEVQKQVLDLLKYLVIDNKDNENLYITIK
LLDPFPDHVVFKDLRITQQKIKYSRGPFSLLEEINHFLSVSVYDALPLTRLEGLKDLRRQ
LELHKDQMVDIMRASQDNPQDGIMVKLVVNLLQLSKMAINHTGEKEVLEAVGSCLGEVGP
IDFSTIAIQHSKDASYTKALKLFEDKELQWTFIMLTYLNNTLVEDCVKVRSAAVTCLKNI
LATKTGHSFWEIYKMTTDPMLAYLQPFRTSRKKFLEVPRFDKENPFEGLDDINLWIPLSE
NHDIWIKTLTCAFLDSGGTKCEILQLLKPMCEVKTDFCQTVLPYLIHDILLQDTNESWRN
LLSTHVQGFFTSCLRHFSQTSRSTTPANLDSESEHFFRCCLDKKSQRTMLAVVDYMRRQK
RPSSGTIFNDAFWLDLNYLEVAKVAQSCAAHFTALLYAEIYADKKSMDDQEKRSLAFEEG
SQSTTISSLSEKSKEETGISLQDLLLEIYRSIGEPDSLYGCGGGKMLQPITRLRTYEHEA
MWGKALVTYDLETAIPSSTRQAGIIQALQNLGLCHILSVYLKGLDYENKDWCPELEELHY
QAAWRNMQWDHCTSVSKEVEGTSYHESLYNALQSLRDREFSTFYESLKYARVKEVEEMCK
RSLESVYSLYPTLSRLQAIGELESIGELFSRSVTHRQLSEVYIKWQKHSQLLKDSDFSFQ
EPIMALRTVILEILMEKEMDNSQRECIKDILTKHLVELSILARTFKNTQLPERAIFQIKQ
YNSVSCGVSEWQLEEAQVFWAKKEQSLALSILKQMIKKLDASCAANNPSLKLTYTECLRV
CGNWLAETCLENPAVIMQTYLEKAVEVAGNYDGESSDELRNGKMKAFLSLARFSDTQYQR
IENYMKSSEFENKQALLKRAKEEVGLLREHKIQTNRYTVKVQRELELDELALRALKEDRK
RFLCKAVENYINCLLSGEEHDMWVFRLCSLWLENSGVSEVNGMMKRDGMKIPTYKFLPLM
YQLAARMGTKMMGGLGFHEVLNNLISRISMDHPHHTLFIILALANANRDEFLTKPEVARR
SRITKNVPKQSSQLDEDRTEAANRIICTIRSRRPQMVRSVEALCDAYIILANLDATQWKT
QRKGINIPADQPITKLKNLEDVVVPTMEIKVDHTGEYGNLVTIQSFKAEFRLAGGVNLPK
IIDCVGSDGKERRQLVKGRDDLRQDAVMQQVFQMCNTLLQRNTETRKRKLTICTYKVVPL
SQRSGVLEWCTGTVPIGEFLVNNEDGAHKRYRPNDFSAFQCQKKMMEVQKKSFEEKYEVF
MDVCQNFQPVFRYFCMEKFLDPAIWFEKRLAYTRSVATSSIVGYILGLGDRHVQNILINE
QSAELVHIDLGVAFEQGKILPTPETVPFRLTRDIVDGMGITGVEGVFRRCCEKTMEVMRN
SQETLLTIVEVLLYDPLFDWTMNPLKALYLQQRPEDETELHPTLNADDQECKRNLSDIDQ
SFNKVAERVLMRLQEKLKGVEEGTVLSVGGQVNLLIQQAIDPKNLSRLFPGWKAWV
NT seq 9171 nt   +upstreamnt  +downstreamnt
atgagtctagtacttaatgatctgcttatctgctgccgtcaactagaacatgatagagct
acagaacgaaagaaagaagttgagaaatttaagcgcctgattcgagatcctgaaacaatt
aaacatctagatcggcattcagattccaaacaaggaaaatatttgaattgggatgctgtt
tttagatttttacagaaatatattcagaaagaaacagaatgtctgagaatagcaaaacca
aatgtatcagcctcaacacaagcctccaggcagaaaaagatgcaggaaatcagtagtttg
gtcaaatacttcatcaaatgtgcaaacagaagagcacctaggctaaaatgtcaagaactc
ttaaattatatcatggatacagtgaaagattcatctaatggtgctatttacggagctgat
tgtagcaacatactactcaaagacattctttctgtgagaaaatactggtgtgaaatatct
cagcaacagtggttagaattgttctctgtgtacttcaggctctatctgaaaccttcacaa
gatgttcatagagttttagtggctagaataattcatgctgttaccaaaggatgctgttct
cagactgacggattaaattccaaatttttggactttttttccaaggctattcagtgtgcg
agacaagaaaagagctcttcaggtctaaatcatatcttagcagctcttactatcttcctc
aagactttggctgtcaactttcgaattcgagtgtgtgaattaggagatgaaattcttccc
actttgctttatatttggactcaacataggcttaatgattctttaaaagaagtcattatt
gaattatttcaactgcaaatttatatccatcatccgaaaggagccaaaacccaagaaaaa
ggtgcttatgaatcaacaaaatggagaagtattttatacaacttatatgatctgctagtg
aatgagataagtcatataggaagtagaggaaagtattcttcaggatttcgtaatattgcc
gtcaaagaaaatttgattgaattgatggcagatatctgtcaccaggtttttaatgaagat
accagatccttggagatttctcaatcttacactactacacaaagagaatctagtgattac
agtgtcccttgcaaaaggaagaaaatagaactaggctgggaagtaataaaagatcacctt
cagaagtcacagaatgattttgatcttgtgccttggctacagattgcaacccaattaata
tcaaagtatcctgcaagtttacctaactgtgagctgtctccattactgatgatactatct
cagcttctaccccaacagcgacatggggaacgtacaccatatgtgttacgatgccttacg
gaagttgcattgtgtcaagacaagaggtcaaacctagaaagctcacaaaagtcagattta
ttaaaactctggaataaaatttggtgtattacctttcgtggtataagttctgagcaaata
caagctgaaaactttggcttacttggagccataattcagggtagtttagttgaggttgac
agagaattctggaagttatttactgggtcagcctgcagaccttcatgtcctgcagtatgc
tgtttgactttggcactgaccaccagtatagttccaggaacggtaaaaatgggaatagag
caaaatatgtgtgaagtaaatagaagcttttctttaaaggaatcaataatgaaatggctc
ttattctatcagttagagggtgacttagaaaatagcacagaagtgcctccaattcttcac
agtaattttcctcatcttgtactggagaaaattcttgtgagtctcactatgaaaaactgt
aaagctgcaatgaattttttccaaagcgtgccagaatgtgaacaccaccaaaaagataaa
gaagaactttcattctcagaagtagaagaactatttcttcagacaacttttgacaagatg
gactttttaaccattgtgagagaatgtggtatagaaaagcaccagtccagtattggcttc
tctgtccaccagaatctcaaggaatcactggatcgctgtcttctgggattatcagaacag
cttctgaataattactcatctgagattacaaattcagaaactcttgtccggtgttcacgt
cttttggtgggtgtccttggctgctactgttacatgggtgtaatagctgaagaggaagca
tataagtcagaattattccagaaagccaagtctctaatgcaatgtgcaggagaaagtatc
actctgtttaaaaataagacaaatgaggaattcagaattggttccttgagaaatatgatg
cagctatgtacacgttgcttgagcaactgtaccaagaagagtccaaataagattgcatct
ggctttttcctgcgattgttaacatcaaagctaatgaatgacattgcagatatttgtaaa
agtttagcatccttcatcaaaaagccatttgaccgtggagaagtagaatcaatggaagat
gatactaatggaaatctaatggaggtggaggatcagtcatccatgaatctatttaacgat
taccctgatagtagtgttagtgatgcaaacgaacctggagagagccaaagtaccataggt
gccattaatcctttagctgaagaatatctgtcaaagcaagatctacttttcttagacatg
ctcaagttcttgtgtttgtgtgtaactactgctcagaccaatactgtgtcctttagggca
gctgatattcggaggaaattgttaatgttaattgattctagcacgctagaacctaccaaa
tccctccacctgcatatgtatctaatgcttttaaaggagcttcctggagaagagtacccc
ttgccaatggaagatgttcttgaacttctgaaaccactatccaatgtgtgttctttgtat
cgtcgtgaccaagatgtttgtaaaactattttaaaccatgtccttcatgtagtgaaaaac
ctaggtcaaagcaatatggactctgagaacacaagggatgctcaaggacagtttcttaca
gtaattggagcattttggcatctaacaaaggagaggaaatatatattctctgtaagaatg
gccctagtaaattgccttaaaactttgcttgaggctgatccttattcaaaatgggccatt
cttaatgtaatgggaaaagactttcctgtaaatgaagtatttacacaatttcttgctgac
aatcatcaccaagttcgcatgttggctgcagagtcaatcaatagattgttccaggacacg
aagggagattcttccaggttactgaaagcacttcctttgaagcttcagcaaacagctttt
gaaaatgcatacttgaaagctcaggaaggaatgagagaaatgtcccatagtgctgagaac
cctgaaactttggatgaaatttataatagaaaatctgttttactgacgttgatagctgtg
gttttatcctgtagccctatctgcgaaaaacaggctttgtttgccctgtgtaaatctgtg
aaagagaatggattagaacctcaccttgtgaaaaaggttttagagaaagtttctgaaact
tttggatatagacgtttagaagactttatggcatctcatttagattatctggttttggaa
tggctaaatcttcaagatactgaatacaacttatcttcttttccttttattttattaaac
tacacaaatattgaggatttctatagatcttgttataaggttttgattccacatctggtg
attagaagtcattttgatgaggtgaagtccattgctaatcagattcaagaggactggaaa
agtcttctaacagactgctttccaaagattcttgtaaatattcttccttattttgcctat
gagggtaccagagacagtgggatggcacagcaaagagagactgctaccaaggtctatgat
atgcttaaaagtgaaaacttattgggaaaacagattgatcacttattcattagtaattta
ccagagattgtggtggagttattgatgacgttacatgagccagcaaattctagtgccagt
cagagcactgacctctgtgacttttcaggggatttggatcctgctcctaatccacctcat
tttccatcgcatgtgattaaagcaacatttgcctatatcagcaattgtcataaaaccaag
ttaaaaagcattttagaaattctttccaaaagccctgattcctatcagaaaattcttctt
gccatatgtgagcaagcagctgaaacaaataatgtttataagaagcacagaattcttaaa
atatatcacctgtttgttagtttattactgaaagatataaaaagtggcttaggaggagct
tgggcctttgttcttcgagacgttatttatactttgattcactatatcaaccaaaggcct
tcttgtatcatggatgtgtcattacgtagcttctccctttgttgtgacttattaagtcag
gtttgccagacagccgtgacttactgtaaggatgctctagaaaaccatcttcatgttatt
gttggtacacttataccccttgtgtatgagcaggtggaggttcagaaacaggtattggac
ttgttgaaatacttagtgatagataacaaggataatgaaaacctctatatcacgattaag
cttttagatccttttcctgaccatgttgtttttaaggatttgcgtattactcagcaaaaa
atcaaatacagtagaggacccttttcactcttggaggaaattaaccattttctctcagta
agtgtttatgatgcacttccattgacaagacttgaaggactaaaggatcttcgaagacaa
ctggaactacataaagatcagatggtggacattatgagagcttctcaggataatccgcaa
gatgggattatggtgaaactagttgtcaatttgttgcagttatccaagatggcaataaac
cacactggtgaaaaagaagttctagaggctgttggaagctgcttgggagaagtgggtcct
atagatttctctaccatagctatacaacatagtaaagatgcatcttataccaaggccctt
aagttatttgaagataaagaacttcagtggaccttcataatgctgacctacctgaataac
acactggtagaagattgtgtcaaagttcgatcagcagctgttacctgtttgaaaaacatt
ttagccacaaagactggacatagtttctgggagatttataagatgacaacagatccaatg
ctggcctatctacagccttttagaacatcaagaaaaaagtttttagaagtacccagattt
gacaaagaaaacccttttgaaggcctggatgatataaatctgtggattcctctaagtgaa
aatcatgacatttggataaagacactgacttgtgcttttttggacagtggaggcacaaaa
tgtgaaattcttcaattattaaagccaatgtgtgaagtgaaaactgacttttgtcagact
gtacttccatacttgattcatgatattttactccaagatacaaatgaatcatggagaaat
ctgctttctacacatgttcagggatttttcaccagctgtcttcgacacttctcgcaaacg
agccgatccacaacccctgcaaacttggattcagagtcagagcactttttccgatgctgt
ttggataaaaaatcacaaagaacaatgcttgctgttgtggactacatgagaagacaaaag
agaccttcttcaggaacaatttttaatgatgctttctggctggatttaaattatctagaa
gttgccaaggtagctcagtcttgtgctgctcactttacagctttactctatgcagaaatc
tatgcagataagaaaagtatggatgatcaagagaaaagaagtcttgcatttgaagaagga
agccagagtacaactatttctagcttgagtgaaaaaagtaaagaagaaactggaataagt
ttacaggatcttctcttagaaatctacagaagtataggggagccagatagtttgtatggc
tgtggtggagggaagatgttacaacccattactagactacgaacatatgaacacgaagca
atgtggggcaaagccctagtaacatatgacctcgaaacagcaatcccctcatcaacacgc
caggcaggaatcattcaggccttgcagaatttgggactctgccatattctttccgtctat
ttaaaaggattggattatgaaaataaagactggtgtcctgaactagaagaacttcattac
caagcagcatggaggaatatgcagtgggaccattgcacttccgtcagcaaagaagtagaa
ggaaccagttaccatgaatcattgtacaatgctctacaatctctaagagacagagaattc
tctacattttatgaaagtctcaaatatgccagagtaaaagaagtggaagagatgtgtaag
cgcagccttgagtctgtgtattcgctctatcccacacttagcaggttgcaggccattgga
gagctggaaagcattggggagcttttctcaagatcagtcacacatagacaactctctgaa
gtatatattaagtggcagaaacactcccagcttctcaaggacagtgattttagttttcag
gagcctatcatggctctacgcacagtcattttggagatcctgatggaaaaggaaatggac
aactcacaaagagaatgtattaaggacattctcaccaaacaccttgtagaactctctata
ctggccagaactttcaagaacactcagctccctgaaagggcaatatttcaaattaaacag
tacaattcagttagctgtggagtctctgagtggcagctggaagaagcacaagtattctgg
gcaaaaaaggagcagagtcttgccctgagtattctcaagcaaatgatcaagaagttggat
gccagctgtgcagcgaacaatcccagcctaaaacttacatacacagaatgtctgagggtt
tgtggcaactggttagcagaaacgtgcttagaaaatcctgcggtcatcatgcagacctat
ctagaaaaggcagtagaagttgctggaaattatgatggagaaagtagtgatgagctaaga
aatggaaaaatgaaggcatttctctcattagcccggttttcagatactcaataccaaaga
attgaaaactacatgaaatcatcggaatttgaaaacaagcaagctctcctgaaaagagcc
aaagaggaagtaggtctccttagggaacataaaattcagacaaacagatacacagtaaag
gttcagcgagagctggagttggatgaattagccctgcgtgcactgaaagaggatcgtaaa
cgcttcttatgtaaagcagttgaaaattatatcaactgcttattaagtggagaagaacat
gatatgtgggtattccgactttgttccctctggcttgaaaattctggagtttctgaagtc
aatggcatgatgaagagagacggaatgaagattccaacatataaatttttgcctcttatg
taccaattggctgctagaatggggaccaagatgatgggaggcctaggatttcatgaagtc
ctcaataatctaatctctagaatttcaatggatcacccccatcacactttgtttattata
ctggccttagcaaatgcaaacagagatgaatttctgactaaaccagaggtagccagaaga
agcagaataactaaaaatgtgcctaaacaaagctctcagcttgatgaggatcgaacagag
gctgcaaatagaataatatgtactatcagaagtaggagacctcagatggtcagaagtgtt
gaggcactttgtgatgcttatattatattagcaaacttagatgccactcagtggaagact
cagagaaaaggcataaatattccagcagaccagccaattactaaacttaagaatttagaa
gatgttgttgtccctactatggaaattaaggtggaccacacaggagaatatggaaatctg
gtgactatacagtcatttaaagcagaatttcgcttagcaggaggtgtaaatttaccaaaa
ataatagattgtgtaggttccgatggcaaggagaggagacagcttgttaagggccgtgat
gacctgagacaagatgctgtcatgcaacaggtcttccagatgtgtaatacattactgcag
agaaacacggaaactaggaagaggaaattaactatctgtacttataaggtggttcccctc
tctcagcgaagtggtgttcttgaatggtgcacaggaactgtccccattggtgaatttctt
gttaacaatgaagatggtgctcataaaagatacaggccaaatgatttcagtgcctttcag
tgccaaaagaaaatgatggaggtgcaaaaaaagtcttttgaagagaaatatgaagtcttc
atggatgtttgccaaaattttcaaccagttttccgttacttctgcatggaaaaattcttg
gatccagctatttggtttgagaagcgattggcttatacgcgcagtgtagctacttcttct
attgttggttacatacttggacttggtgatagacatgtacagaatatcttgataaatgag
cagtcagcagaacttgtacatatagatctaggtgttgcttttgaacagggcaaaatcctt
cctactcctgagacagttccttttagactcaccagagatattgtggatggcatgggcatt
acgggtgttgaaggtgtcttcagaagatgctgtgagaaaaccatggaagtgatgagaaac
tctcaggaaactctgttaaccattgtagaggtccttctatatgatccactctttgactgg
accatgaatcctttgaaagctttgtatttacagcagaggccggaagatgaaactgagctt
caccctactctgaatgcagatgaccaagaatgcaaacgaaatctcagtgatattgaccag
agtttcaacaaagtagctgaacgtgtcttaatgagactacaagagaaactgaaaggagtg
gaagaaggcactgtgctcagtgttggtggacaagtgaatttgctcatacagcaggccata
gaccccaaaaatctcagccgacttttcccaggatggaaagcttgggtgtga

KEGG   Homo sapiens (human): 4286
Entry
4286              CDS       T01001                                 
Symbol
MITF, CMM8, COMMAD, MI, MITF-A, WS2, WS2A, bHLHe32
Name
(RefSeq) melanocyte inducing transcription factor
  KO
K09455  microphthalmia-associated transcription factor
Organism
hsa  Homo sapiens (human)
Pathway
hsa04137  Mitophagy - animal
hsa04380  Osteoclast differentiation
hsa04916  Melanogenesis
hsa05200  Pathways in cancer
hsa05202  Transcriptional misregulation in cancer
hsa05218  Melanoma
Network
nt06240  Transcription
  Element
N00136  EWSR1-ATF1 fusion to transcriptional activation
Disease
H00038  Melanoma
H00169  Ocular albinism
H00759  Waardenburg syndrome
H01187  Tietz syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04137 Mitophagy - animal
    4286 (MITF)
 09150 Organismal Systems
  09152 Endocrine system
   04916 Melanogenesis
    4286 (MITF)
  09158 Development and regeneration
   04380 Osteoclast differentiation
    4286 (MITF)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    4286 (MITF)
   05202 Transcriptional misregulation in cancer
    4286 (MITF)
  09162 Cancer: specific types
   05218 Melanoma
    4286 (MITF)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    4286 (MITF)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Basic helix-loop-helix/leucine zipper (bHLH-ZIP)
   Ubiquitous bHLH-ZIP factors
    4286 (MITF)
SSDB
Motif
Pfam: MITF_TFEB_C_3_N DUF3371 HLH DUF726
Other DBs
NCBI-GeneID: 4286
NCBI-ProteinID: NP_937802
OMIM: 156845
HGNC: 7105
Ensembl: ENSG00000187098
Vega: OTTHUMG00000149921
Pharos: O75030(Tbio)
UniProt: O75030
Structure
LinkDB
Position
3:69739464..69968332
AA seq 520 aa
MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSSAEHPGASKPPISSSSMTSRILLR
QQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQ
THLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNS
PMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEE
ILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARAL
AKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQR
EQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEP
VLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILM
DDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC
NT seq 1563 nt   +upstreamnt  +downstreamnt
atgcagtccgaatcggggatcgtgccggatttcgaagtcggggaggagtttcatgaagag
cccaaaacctattacgaactcaaaagtcaaccgctgaagagcagcagttccgccgagcat
cctggggcctccaagcctccgataagctcctccagtatgacatcacgcatcttgctacgc
cagcaactcatgcgtgagcagatgcaggagcaggagcgcagggagcagcagcagaagctg
caggcggcccagttcatgcaacagagagtgcccgtgagtcagacaccagccataaacgtc
agtgtgcccaccacccttccctctgccacgcaggtgccgatggaagtccttaaggtgcag
acccacctcgaaaaccccaccaagtaccacatacagcaagcccaacggcagcaggtaaag
cagtacctttctaccactttagcaaataaacatgccaaccaagtcctgagcttgccatgt
ccaaaccagcctggcgatcatgtcatgccaccggtgccggggagcagcgcacccaacagc
cccatggctatgcttacgcttaactccaactgtgaaaaagagggattttataagtttgaa
gagcaaaacagggcagagagcgagtgcccaggcatgaacacacattcacgagcgtcctgt
atgcagatggatgatgtaatcgatgacatcattagcctagaatcaagttataatgaggaa
atcttgggcttgatggatcctgctttgcaaatggcaaatacgttgcctgtctcgggaaac
ttgattgatctttatggaaaccaaggtctgcccccaccaggcctcaccatcagcaactcc
tgtccagccaaccttcccaacataaaaagggagctcacagagtctgaagcaagagcactg
gccaaagagaggcagaaaaaggacaatcacaacctgattgaacgaagaagaagatttaac
ataaatgaccgcattaaagaactaggtactttgattcccaagtcaaatgatccagacatg
cgctggaacaagggaaccatcttaaaagcatccgtggactatatccgaaagttgcaacga
gaacagcaacgcgcaaaagaacttgaaaaccgacagaagaaactggagcacgccaaccgg
catttgttgctcagaatacaggaacttgaaatgcaggctcgagctcatggactttccctt
attccatccacgggtctctgctctccagatttggtgaatcggatcatcaagcaagaaccc
gttcttgagaactgcagccaagacctccttcagcatcatgcagacctaacctgtacaaca
actctcgatctcacggatggcaccatcaccttcaacaacaacctcggaactgggactgag
gccaaccaagcctatagtgtccccacaaaaatgggatccaaactggaagacatcctgatg
gacgacaccctttctcccgtcggtgtcactgatccactcctttcctcagtgtcccccgga
gcttccaaaacaagcagccggaggagcagtatgagcatggaagagacggagcacacttgt
tag

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