Entry |
|
Symbol |
MCOLN1, LECD, MG-2, ML1, ML4, MLIV, MST080, MSTP080, TRP-ML1, TRPM-L1, TRPML1
|
Name |
(RefSeq) mucolipin TRP cation channel 1
|
KO |
|
Organism |
|
Pathway |
|
Network |
|
Element |
|
Disease |
H02822 | Lisch epithelial corneal dystrophy |
|
Brite |
KEGG Orthology (KO) [BR:hsa00001]
09130 Environmental Information Processing
09132 Signal transduction
04020 Calcium signaling pathway
57192 (MCOLN1)
09140 Cellular Processes
09141 Transport and catabolism
04142 Lysosome
57192 (MCOLN1)
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
04040 Ion channels [BR:hsa04040]
57192 (MCOLN1)
Ion channels [BR:hsa04040]
Voltage-gated cation channels
Transient receptor potential channel (TRP)
57192 (MCOLN1)
|
SSDB |
|
Motif |
|
Other DBs |
|
Structure |
|
LinkDB |
|
Position |
19:7522624..7534009
|
AA seq |
580 aa
MTAPAGPRGSETERLLTPNPGYGTQAGPSPAPPTPPEEEDLRRRLKYFFMSPCDKFRAKG
RKPCKLMLQVVKILVVTVQLILFGLSNQLAVTFREENTIAFRHLFLLGYSDGADDTFAAY
TREQLYQAIFHAVDQYLALPDVSLGRYAYVRGGGDPWTNGSGLALCQRYYHRGHVDPAND
TFDIDPMVVTDCIQVDPPERPPPPPSDDLTLLESSSSYKNLTLKFHKLVNVTIHFRLKTI
NLQSLINNEIPDCYTFSVLITFDNKAHSGRIPISLETQAHIQECKHPSVFQHGDNSFRLL
FDVVVILTCSLSFLLCARSLLRGFLLQNEFVGFMWRQRGRVISLWERLEFVNGWYILLVT
SDVLTISGTIMKIGIEAKNLASYDVCSILLGTSTLLVWVGVIRYLTFFHNYNILIATLRV
ALPSVMRFCCCVAVIYLGYCFCGWIVLGPYHVKFRSLSMVSECLFSLINGDDMFVTFAAM
QAQQGRSSLVWLFSQLYLYSFISLFIYMVLSLFIALITGAYDTIKHPGGAGAEESELQAY
IAQCQDSPTSGKFRRGSGSACSLLCCCGRDPSEEHSLLVN |
NT seq |
1743 nt +upstreamnt +downstreamnt
atgacagccccggcgggtccgcgcggctcagagaccgagcggcttctgacccccaacccc
gggtatgggacccaggcggggccttcaccggcccctccgacacccccagaagaggaagac
cttcgccgtcgtctcaaatactttttcatgagtccctgcgacaagtttcgagccaagggc
cgcaagccctgcaagctgatgctgcaagtggtcaagatcctggtggtcacggtgcagctc
atcctgtttgggctcagtaatcagctggctgtgacattccgggaagagaacaccatcgcc
ttccgacacctcttcctgctgggctactcggacggagcggatgacaccttcgcagcctac
acgcgggagcagctgtaccaggccatcttccatgctgtggaccagtacctggcgttgcct
gacgtgtcactgggccggtatgcgtatgtccgtggtgggggtgacccttggaccaatggc
tcagggcttgctctctgccagcggtactaccaccgaggccacgtggacccggccaacgac
acatttgacattgatccgatggtggttactgactgcatccaggtggatccccccgagcgg
ccccctccgccccccagcgacgatctcaccctcttggaaagcagctccagttacaagaac
ctcacgctcaaattccacaagctggtcaatgtcaccatccacttccggctgaagaccatt
aacctccagagcctcatcaataatgagatcccggactgctataccttcagcgtcctgatc
acgtttgacaacaaagcacacagtgggcggatccccatcagcctggagacccaggcccac
atccaggagtgtaagcaccccagtgtcttccagcacggagacaacagcttccggctcctg
tttgacgtggtggtcatcctcacctgctccctgtccttcctcctctgcgcccgctcactc
cttcgaggcttcctgctgcagaacgagtttgtggggttcatgtggcggcagcggggacgg
gtcatcagcctgtgggagcggctggaatttgtcaatggctggtacatcctgctcgtcacc
agcgatgtgctcaccatctcgggcaccatcatgaagatcggcatcgaggccaagaacttg
gcgagctacgacgtctgcagcatcctcctgggcacctcgacgctgctggtgtgggtgggc
gtgatccgctacctgaccttcttccacaactacaatatcctcatcgccacactgcgggtg
gccctgcccagcgtcatgcgcttctgctgctgcgtggctgtcatctacctgggctactgc
ttctgtggctggatcgtgctggggccctatcatgtgaagttccgctcactctccatggtg
tctgagtgcctgttctcgctcatcaatggggacgacatgtttgtgacgttcgccgccatg
caggcgcagcagggccgcagcagcctggtgtggctcttctcccagctctacctttactcc
ttcatcagcctcttcatctacatggtgctcagcctcttcatcgcgctcatcaccggcgcc
tacgacaccatcaagcatcccggcggcgcaggcgcagaggagagcgagctgcaggcctac
atcgcacagtgccaggacagccccacctccggcaagttccgccgcgggagcggctcggcc
tgcagccttctctgctgctgcggaagggacccctcggaggagcattcgctgctggtgaat
tga |