KEGG   Homo sapiens (human): 4286Help
Entry
4286              CDS       T01001                                 

Gene name
MITF, CMM8, MI, WS2, WS2A, bHLHe32
Definition
microphthalmia-associated transcription factor
Orthology
K09455  
microphthalmia-associated transcription factor
Organism
hsa  Homo sapiens (human)
Pathway
Osteoclast differentiation
Melanogenesis
Pathways in cancer
Melanoma
Disease
H00038  
Malignant melanoma
H00169  
Ocular albinism
H00759  
Waardenburg syndrome (WS)
H01187  
Tietz syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Organismal Systems
  Endocrine system
   04916 Melanogenesis
    4286 (MITF)
  Development
   04380 Osteoclast differentiation
    4286 (MITF)
 Human Diseases
  Cancers
   05200 Pathways in cancer
    4286 (MITF)
   05218 Melanoma
    4286 (MITF)
Transcription factors [BR:hsa03000]
 Eukaryotic Type
  Basic helix-loop-helix/leucine zipper (bHLH-ZIP)
   Ubiquitous bHLH-ZIP factors
    4286 (MITF)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
3p14.2-p14.1
AA seq 419 aa AA seqDB search
MLEMLEYNHYQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDH
VMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVI
DDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPN
IKRELTACIFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMR
WNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLI
PSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEA
NQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC
NT seq 1260 nt NT seq  +upstreamnt  +downstreamnt
atgctggaaatgctagaatataatcactatcaggtgcagacccacctcgaaaaccccacc
aagtaccacatacagcaagcccaacggcagcaggtaaagcagtacctttctaccacttta
gcaaataaacatgccaaccaagtcctgagcttgccatgtccaaaccagcctggcgatcat
gtcatgccaccggtgccggggagcagcgcacccaacagccccatggctatgcttacgctt
aactccaactgtgaaaaagagggattttataagtttgaagagcaaaacagggcagagagc
gagtgcccaggcatgaacacacattcacgagcgtcctgtatgcagatggatgatgtaatc
gatgacatcattagcctagaatcaagttataatgaggaaatcttgggcttgatggatcct
gctttgcaaatggcaaatacgttgcctgtctcgggaaacttgattgatctttatggaaac
caaggtctgcccccaccaggcctcaccatcagcaactcctgtccagccaaccttcccaac
ataaaaagggagctcacagcgtgtatttttcccacagagtctgaagcaagagcactggcc
aaagagaggcagaaaaaggacaatcacaacctgattgaacgaagaagaagatttaacata
aatgaccgcattaaagaactaggtactttgattcccaagtcaaatgatccagacatgcgc
tggaacaagggaaccatcttaaaagcatccgtggactatatccgaaagttgcaacgagaa
cagcaacgcgcaaaagaacttgaaaaccgacagaagaaactggagcacgccaaccggcat
ttgttgctcagaatacaggaacttgaaatgcaggctcgagctcatggactttcccttatt
ccatccacgggtctctgctctccagatttggtgaatcggatcatcaagcaagaacccgtt
cttgagaactgcagccaagacctccttcagcatcatgcagacctaacctgtacaacaact
ctcgatctcacggatggcaccatcaccttcaacaacaacctcggaactgggactgaggcc
aaccaagcctatagtgtccccacaaaaatgggatccaaactggaagacatcctgatggac
gacaccctttctcccgtcggtgtcactgatccactcctttcctcagtgtcccccggagct
tccaaaacaagcagccggaggagcagtatgagcatggaagagacggagcacacttgttag

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