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
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
   04380 Osteoclast differentiation
    4286 (MITF)
 09160 Human Diseases
  09161 Cancers: Overview
   05200 Pathways in cancer
    4286 (MITF)
   05202 Transcriptional misregulation in cancer
    4286 (MITF)
  09162 Cancers: 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)
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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