Homo sapiens (human): 4286
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Entry
4286 CDS
T01001
Symbol
MITF, CMM8, COMMAD, MI, MITF-A, WS2, WS2A, bHLHe32
Name
(RefSeq) melanocyte inducing 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
nt06240
Transcription (cancer)
Element
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 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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
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
UniProt:
O75030
Structure
PDB
LinkDB
All DBs
Position
3:69739464..69968332
Genome browser
AA seq
520 aa
AA seq
DB search
MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSSAEHPGASKPPISSSSMTSRILLR
QQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQ
THLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNS
PMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEE
ILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARAL
AKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQR
EQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEP
VLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILM
DDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC
NT seq
1563 nt
NT seq
+upstream
nt +downstream
nt
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
DBGET
integrated database retrieval system
