KEGG   Homo sapiens (human): 79058
Entry
79058             CDS       T01001                                 
Symbol
ASPSCR1, ASPCR1, ASPL, ASPS, RCC17, TUG, UBXD9, UBXN9
Name
(RefSeq) ASPSCR1 tether for SLC2A4, UBX domain containing
  KO
K15627  tether containing UBX domain for GLUT4
Organism
hsa  Homo sapiens (human)
Pathway
hsa05202  Transcriptional misregulation in cancer
Disease
H00051  Alveolar soft part sarcoma
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09161 Cancer: overview
   05202 Transcriptional misregulation in cancer
    79058 (ASPSCR1)
SSDB
Motif
Pfam: TUG-UBL1 UBX RBD DUF1192
Other DBs
NCBI-GeneID: 79058
NCBI-ProteinID: NP_076988
OMIM: 606236
HGNC: 13825
Ensembl: ENSG00000169696
UniProt: Q9BZE9
Structure
LinkDB
Position
17:81977629..82017406
AA seq 553 aa
MAAPAGGGGSAVSVLAPNGRRHTVKVTPSTVLLQVLEDTCRRQDFNPCEYDLKFQRSVLD
LSLQWRFANLPNNAKLEMVPASRSREGPENMVRIALQLDDGSRLQDSFCSGQTLWELLSH
FPQIRECLQHPGGATPVCVYTRDEVTGEAALRGTTLQSLGLTGGSATIRFVMKCYDPVGK
TPGSLGSSASAGQAAASAPLPLESGELSRGDLSRPEDADTSGPCCEHTQEKQSTRAPAAA
PFVPFSGGGQRLGGPPGPTRPLTSSSAKLPKSLSSPGGPSKPKKSKSGQDPQQEQEQERE
RDPQQEQERERPVDREPVDREPVVCHPDLEERLQAWPAELPDEFFELTVDDVRRRLAQLK
SERKRLEEAPLVTKAFREAQIKEKLERYPKVALRVLFPDRYVLQGFFRPSETVGDLRDFV
RSHLGNPELSFYLFITPPKTVLDDHTQTLFQANLFPAALVHLGAEEPAGVYLEPGLLEHA
ISPSAADVLVARYMSRAAGSPSPLPAPDPAPKSEPAAEEGALVPPEPIPGTAQPVKRSLG
KVPKWLKLPASKR
NT seq 1662 nt   +upstreamnt  +downstreamnt
atggcggccccggcaggcggcggaggctccgcggtgtcggtgctggccccgaacggccgg
cgccacacggtgaaggtgacgccgagcaccgtgctgcttcaggttctggaggacacgtgc
cggcggcaggacttcaacccctgtgaatatgatctgaagtttcagaggagcgtgctcgac
ctttctctccagtggagatttgccaacctgcccaacaatgccaagctggagatggtgccc
gcttcccggagccgtgaggggcctgagaacatggttcgcatcgctttgcagctggacgat
ggctcgaggttgcaggactctttctgttcaggccagaccctctgggagcttctcagccat
tttccacagatcagggagtgcctgcagcaccccggcggggccaccccagtctgcgtgtac
acgagggatgaggtgacgggtgaagctgccctgcggggcacgacgctgcagtcgctgggc
ctgaccgggggcagcgccaccatcaggtttgtcatgaagtgctacgaccccgtgggcaag
accccaggaagcctgggctcgtcagcgtcggctggccaggcagccgccagcgctccactt
cccttggaatctggggagctcagccgcggcgacttgagccgtccggaggacgcggacacc
tcagggccctgctgcgagcacactcaggagaagcagagcacaagggcacccgcagctgcc
ccctttgttcctttctcgggtgggggacagagactggggggccctcctgggcccacgagg
cctctgacatcatcttcagctaagttgccgaagtccctctccagccctggaggcccctcc
aagccaaagaagtccaagtcgggccaggatccccagcaggagcaggagcaggagcgggag
cgggatccccagcaggagcaggagcgggagcggcccgtggaccgggagcccgtggaccgg
gagccggtggtgtgccaccccgacctggaggagcggctgcaggcctggccagcggagctg
cctgatgagttctttgagctgacggtggacgacgtgagaagacgcttggcccagctcaag
agtgagcggaagcgcctggaagaagcccccttggtgaccaaggccttcagggaggcgcag
ataaaggagaagctggagcgctacccaaaggtggctctgagggtcctgttccccgaccgc
tacgtcctacagggcttcttccgccccagcgagacagtgggggacttgcgagacttcgtg
aggagccacctggggaaccccgagctgtcattttacctgttcatcacccctccaaaaaca
gtcctggacgaccacacgcagaccctctttcaggcgaacctcttcccggccgctctggtg
cacttgggagccgaggagccggcaggtgtctacctggagcctggcctgctggagcatgcc
atctccccatctgcggccgatgtgctggtggccaggtacatgtccagggccgccgggtcc
ccttccccattgccagcccctgaccctgcacctaagtctgagccagctgctgaggagggg
gcgctggtcccccctgagcccatcccagggacggcccagcccgtgaagaggagcctgggc
aaggtgcccaagtggctgaagctgccggccagcaagaggtga

KEGG   Homo sapiens (human): 7030
Entry
7030              CDS       T01001                                 
Symbol
TFE3, MRXSPF, RCCP2, RCCX1, TFEA, bHLHe33
Name
(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 (cancer)
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
UniProt: P19532
Structure
LinkDB
Position
X:complement(49028726..49043357)
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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