KEGG   Homo sapiens (human): 57192Help
Entry
57192             CDS       T01001                                 

Gene name
MCOLN1, MG-2, ML4, MLIV, MST080, TRP-ML1, TRPM-L1, TRPML1
Definition
mucolipin 1
Orthology
K04992  
mucolipin 1
Organism
hsa  Homo sapiens (human)
Pathway
Lysosome
Disease
H00144  
Mucolipidosis IV
Class
Cellular Processes; Transport and catabolism; Lysosome [PATH:hsa04142]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
19p13.2
AA seq 580 aa AA seqDB search
MTAPAGPRGSETERLLTPNPGYGTQAGPSPAPPTPPEEEDLRRRLKYFFMSPCDKFRAKG
RKPCKLMLQVVKILVVTVQLILFGLSNQLAVTFREENTIAFRHLFLLGYSDGADDTFAAY
TREQLYQAIFHAVDQYLALPDVSLGRYAYVRGGGDPWTNGSGLALCQRYYHRGHVDPAND
TFDIDPMVVTDCIQVDPPERPPPPPSDDLTLLESSSSYKNLTLKFHKLVNVTIHFRLKTI
NLQSLINNEIPDCYTFSVLITFDNKAHSGRIPISLETQAHIQECKHPSVFQHGDNSFRLL
FDVVVILTCSLSFLLCARSLLRGFLLQNEFVGFMWRQRGRVISLWERLEFVNGWYILLVT
SDVLTISGTIMKIGIEAKNLASYDVCSILLGTSTLLVWVGVIRYLTFFHNYNILIATLRV
ALPSVMRFCCCVAVIYLGYCFCGWIVLGPYHVKFRSLSMVSECLFSLINGDDMFVTFAAM
QAQQGRSSLVWLFSQLYLYSFISLFIYMVLSLFIALITGAYDTIKHPGGAGAEESELQAY
IAQCQDSPTSGKFRRGSGSACSLLCCCGRDPSEEHSLLVN
NT seq 1743 nt NT seq  +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

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