| Entry |
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| Symbol |
MITF, CMM8, COMMAD, MI, MITF-A, WS2, WS2A, bHLHe32
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| Name |
(RefSeq) microphthalmia-associated transcription factor isoform 9
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| KO |
| K09455 | microphthalmia-associated transcription factor |
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| Organism |
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| Pathway |
| hsa05202 | Transcriptional misregulation in cancer |
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| Network |
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| Element |
| N00136 | EWSR1-ATF1 fusion to transcriptional activation |
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| Disease |
| H03063 | Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness |
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| Brite |
KEGG Orthology (KO) [BR:hsa00001]
09140 Cellular Processes
09141 Transport and catabolism
04142 Lysosome biogenesis
4286 (MITF)
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)
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| SSDB |
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| Motif |
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| Other DBs |
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| Structure |
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| LinkDB |
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| Position |
3:69739464..69968332
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| AA seq |
526 aa
MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSSAEHPGASKPPISSSSMTSRILLR
QQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQ
THLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNS
PMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEE
ILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTACIFPTE
SEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDY
IRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNR
IIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSK
LEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC |
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| NT seq |
1581 nt +upstreamnt +downstreamnt
atgcagtccgaatcggggatcgtgccggatttcgaagtcggggaggagtttcatgaagag
cccaaaacctattacgaactcaaaagtcaaccgctgaagagcagcagttccgccgagcat
cctggggcctccaagcctccgataagctcctccagtatgacatcacgcatcttgctacgc
cagcaactcatgcgtgagcagatgcaggagcaggagcgcagggagcagcagcagaagctg
caggcggcccagttcatgcaacagagagtgcccgtgagtcagacaccagccataaacgtc
agtgtgcccaccacccttccctctgccacgcaggtgccgatggaagtccttaaggtgcag
acccacctcgaaaaccccaccaagtaccacatacagcaagcccaacggcagcaggtaaag
cagtacctttctaccactttagcaaataaacatgccaaccaagtcctgagcttgccatgt
ccaaaccagcctggcgatcatgtcatgccaccggtgccggggagcagcgcacccaacagc
cccatggctatgcttacgcttaactccaactgtgaaaaagagggattttataagtttgaa
gagcaaaacagggcagagagcgagtgcccaggcatgaacacacattcacgagcgtcctgt
atgcagatggatgatgtaatcgatgacatcattagcctagaatcaagttataatgaggaa
atcttgggcttgatggatcctgctttgcaaatggcaaatacgttgcctgtctcgggaaac
ttgattgatctttatggaaaccaaggtctgcccccaccaggcctcaccatcagcaactcc
tgtccagccaaccttcccaacataaaaagggagctcacagcgtgtatttttcccacagag
tctgaagcaagagcactggccaaagagaggcagaaaaaggacaatcacaacctgattgaa
cgaagaagaagatttaacataaatgaccgcattaaagaactaggtactttgattcccaag
tcaaatgatccagacatgcgctggaacaagggaaccatcttaaaagcatccgtggactat
atccgaaagttgcaacgagaacagcaacgcgcaaaagaacttgaaaaccgacagaagaaa
ctggagcacgccaaccggcatttgttgctcagaatacaggaacttgaaatgcaggctcga
gctcatggactttcccttattccatccacgggtctctgctctccagatttggtgaatcgg
atcatcaagcaagaacccgttcttgagaactgcagccaagacctccttcagcatcatgca
gacctaacctgtacaacaactctcgatctcacggatggcaccatcaccttcaacaacaac
ctcggaactgggactgaggccaaccaagcctatagtgtccccacaaaaatgggatccaaa
ctggaagacatcctgatggacgacaccctttctcccgtcggtgtcactgatccactcctt
tcctcagtgtcccccggagcttccaaaacaagcagccggaggagcagtatgagcatggaa
gagacggagcacacttgttag |
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