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

Gene name
MCOLN1, MG-2, ML1, ML4, MLIV, MST080, MSTP080, TRP-ML1, TRPM-L1, TRPML1
Definition
(RefSeq) mucolipin 1
  KO
K04992  mucolipin 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
hsa04142  Lysosome
Disease
H00144  Mucolipidosis IV
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
Pfam: PKD_channel DUF1866 Ion_trans
Other DBs
NCBI-GeneID: 57192
NCBI-ProteinID: NP_065394
OMIM: 605248
HGNC: 13356
Ensembl: ENSG00000090674
Vega: OTTHUMG00000182046
Pharos: Q9GZU1(Tbio)
UniProt: Q9GZU1
Structure
PDB: 

Position
19p13.2
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

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