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

Gene name
MITF, CMM8, MI, WS2, WS2A, bHLHe32
Definition
(RefSeq) melanogenesis associated transcription factor
  KO
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-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
3p13
AA seq 520 aa AA seqDB search
MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSSAEHPGASKPPISSSSMTSRILLR
QQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQ
THLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNS
PMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEE
ILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARAL
AKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQR
EQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEP
VLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILM
DDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC
NT seq 1563 nt NT seq  +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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