KEGG   Homo sapiens (human): 7030Help
Entry
7030              CDS       T01001                                 

Gene name
TFE3, RCCP2, RCCX1, TFEA, bHLHe33
Definition
(RefSeq) transcription factor binding to IGHM enhancer 3
  KO
K09105  transcription factor E3
Organism
hsa  Homo sapiens (human)
Pathway
hsa04137  Mitophagy - animal
hsa05202  Transcriptional misregulation in cancer
hsa05211  Renal cell carcinoma
Network
nt06240  Transcription
nt06264  Renal cell carcinoma
  Element
N00127  PRCC-TFE3 fusion to transcriptional activation
Disease
H00021  Renal cell carcinoma
H00051  Alveolar soft part sarcoma
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04137 Mitophagy - animal
    7030 (TFE3)
 09160 Human Diseases
  09161 Cancer: overview
   05202 Transcriptional misregulation in cancer
    7030 (TFE3)
  09162 Cancer: specific types
   05211 Renal cell carcinoma
    7030 (TFE3)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    7030 (TFE3)
Transcription factors [BR:hsa03000]
 Eukaryotic Type
  Basic helix-loop-helix/leucine zipper (bHLH-ZIP)
   Ubiquitous bHLH-ZIP factors
    7030 (TFE3)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: MITF_TFEB_C_3_N DUF3371 HLH
Motif
Other DBs
NCBI-GeneID: 7030
NCBI-ProteinID: NP_006512
OMIM: 314310
HGNC: 11752
Ensembl: ENSG00000068323
Vega: OTTHUMG00000022690
Pharos: P19532(Tbio)
UniProt: P19532 A0A024QZ23
LinkDB All DBs
Position
Xp11.23
AA seq 575 aa AA seqDB search
MSHAAEPARDGVEASAEGPRAVFVLLEERRPADSAQLLSLNSLLPESGIVADIELENVLD
PDSFYELKSQPLPLRSSLPISLQATPATPATLSASSSAGGSRTPAMSSSSSSRVLLRQQL
MRAQAQEQERRERREQAAAAPFPSPAPASPAISVVGVSAGGHTLSRPPPAQVPREVLKVQ
THLENPTRYHLQQARRQQVKQYLSTTLGPKLASQALTPPPGPASAQPLPAPEAAHTTGPT
GSAPNSPMALLTIGSSSEKEIDDVIDEIISLESSYNDEMLSYLPGGTTGLQLPSTLPVSG
NLLDVYSSQGVATPAITVSNSCPAELPNIKREISETEAKALLKERQKKDNHNLIERRRRF
NINDRIKELGTLIPKSSDPEMRWNKGTILKASVDYIRKLQKEQQRSKDLESRQRSLEQAN
RSLQLRIQELELQAQIHGLPVPPTPGLLSLATTSASDSLKPEQLDIEEEGRPGAATFHVG
GGPAQNAPHQQPPAPPSDALLDLHFPSDHLGDLGDPFHLGLEDILMEEEEGVVGGLSGGA
LSPLRAASDPLLSSVSPAVSKASSRRSSFSMEEES
NT seq 1728 nt NT seq  +upstreamnt  +downstreamnt
atgtctcatgcggccgaaccagctcgggatggcgtagaggccagcgcggagggccctcga
gccgtgttcgtgctgttggaggagcgcaggccggccgactcggctcagctgctcagcctg
aactctttgcttccggaatccgggattgttgctgacatagaattagaaaacgtccttgat
cctgacagcttctacgagctcaaaagccaacccttaccccttcgctcaagcctcccaata
tcactgcaggccacaccagccaccccagctacactctctgcatcgtcttctgcagggggc
tccaggacccctgccatgtcgtcatcttcttcatcgagggtcttgctgcggcagcagcta
atgcgggcccaggcgcaggagcaggagaggcgtgagcgtcgggaacaggccgccgcggct
cccttccccagtcctgcacctgcctctcctgccatctctgtggttggcgtctctgctggg
ggccacacattgagccgtccaccccctgctcaggtgcccagggaggtgctcaaggtgcag
acccatctggagaacccaacgcgctaccacctgcagcaggcgcgccggcagcaggtgaaa
cagtacctgtccaccacactcgggcccaagctggcttcccaggccctcaccccaccgccg
gggcccgcaagtgcccagccactgcctgcccctgaggctgcccacactaccggccccaca
ggcagtgcgcccaacagccccatggcgctgctcaccatcgggtccagctcagagaaggag
attgatgatgtcattgatgagatcatcagcctggagtccagttacaatgatgaaatgctc
agctatctgcccggaggcaccacaggactgcagctccccagcacgctgcctgtgtcaggg
aatctgcttgatgtgtacagtagtcaaggcgtggccacaccagccatcactgtcagcaac
tcctgcccagctgagctgcccaacatcaaacgggagatctctgagaccgaggcaaaggcc
cttttgaaggaacggcagaagaaagacaatcacaacctaattgagcgtcgcaggcgattc
aacattaacgacaggatcaaggaactgggcactctcatccctaagtccagtgacccggag
atgcgctggaacaagggcaccatcctgaaggcctctgtggattatatccgcaagctgcag
aaggagcagcagcgctccaaagacctggagagccggcagcgatccctggagcaggccaac
cgcagcctgcagctccgaattcaggaactagaactgcaggcccagatccatggcctgcca
gtacctcccactccagggctgctttccttggccacgacttcggcttctgacagcctcaag
ccagagcagctggacattgaggaggagggcaggccaggcgcagcaacgttccatgtaggg
gggggacctgcccagaatgctccccatcagcagccccctgcaccgccctcagatgccctt
ctggacctgcactttcccagcgaccacctgggggacctgggagaccccttccacctgggg
ctggaggacattctgatggaggaggaggagggggtggtgggaggactgtcggggggtgcc
ctgtccccactgcgggctgcctccgatcccctgctctcttcagtgtcccctgctgtctcc
aaggccagcagccgccgcagcagcttcagcatggaagaggagtcctga

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