KEGG   Homo sapiens (human): 7030
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
N00143  ASPL-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)
SSDB
Motif
Pfam: MITF_TFEB_C_3_N DUF3371 HLH
Other DBs
NCBI-GeneID: 7030
NCBI-ProteinID: NP_006512
OMIM: 314310
HGNC: 11752
Ensembl: ENSG00000068323
Vega: OTTHUMG00000022690
Pharos: P19532(Tbio)
UniProt: P19532 A0A024QZ23
Position
Xp11.23
AA seq 575 aa
MSHAAEPARDGVEASAEGPRAVFVLLEERRPADSAQLLSLNSLLPESGIVADIELENVLD
PDSFYELKSQPLPLRSSLPISLQATPATPATLSASSSAGGSRTPAMSSSSSSRVLLRQQL
MRAQAQEQERRERREQAAAAPFPSPAPASPAISVVGVSAGGHTLSRPPPAQVPREVLKVQ
THLENPTRYHLQQARRQQVKQYLSTTLGPKLASQALTPPPGPASAQPLPAPEAAHTTGPT
GSAPNSPMALLTIGSSSEKEIDDVIDEIISLESSYNDEMLSYLPGGTTGLQLPSTLPVSG
NLLDVYSSQGVATPAITVSNSCPAELPNIKREISETEAKALLKERQKKDNHNLIERRRRF
NINDRIKELGTLIPKSSDPEMRWNKGTILKASVDYIRKLQKEQQRSKDLESRQRSLEQAN
RSLQLRIQELELQAQIHGLPVPPTPGLLSLATTSASDSLKPEQLDIEEEGRPGAATFHVG
GGPAQNAPHQQPPAPPSDALLDLHFPSDHLGDLGDPFHLGLEDILMEEEEGVVGGLSGGA
LSPLRAASDPLLSSVSPAVSKASSRRSSFSMEEES
NT seq 1728 nt   +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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Ontology (2)   
   KEGG BRITE (2)   
Pathway (3)   
   KEGG PATHWAY (3)   
Network (2)   
   KEGG NETWORK (2)   
Disease (4)   
   KEGG DISEASE (2)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (22)   
   KEGG ORTHOLOGY (1)   
   RefGene (8)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (6)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (6)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (23)   
   RefSeq(nuc) (3)   
   GenBank (10)   
   EMBL (10)   
Protein domain (3)   
   Pfam (3)   
All databases (66)   

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