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

Gene name
MITF, CMM8, COMMAD, MI, WS2, WS2A, bHLHe32
Definition
(RefSeq) melanogenesis associated 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
N00136  EWSR1-ATF1 fusion to transcriptional activation
Disease
H00038  Melanoma
H00169  Ocular albinism
H00759  Waardenburg syndrome (WS)
H01187  Tietz syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Cellular Processes
  Transport and catabolism
   04137 Mitophagy - animal
    4286 (MITF)
 Organismal Systems
  Endocrine system
   04916 Melanogenesis
    4286 (MITF)
  Development
   04380 Osteoclast differentiation
    4286 (MITF)
 Human Diseases
  Cancers
   05200 Pathways in cancer
    4286 (MITF)
   05202 Transcriptional misregulation in cancers
    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
Pfam: MITF_TFEB_C_3_N DUF3371 HLH DUF726
Motif
Other DBs
NCBI-GeneID: 4286
NCBI-ProteinID: NP_937802
OMIM: 156845
HGNC: 7105
Ensembl: ENSG00000187098
Vega: OTTHUMG00000149921
Pharos: O75030(Tbio)
UniProt: O75030
Structure
PDB: 

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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