KEGG   Homo sapiens (human): 255231
Entry
255231            CDS       T01001                                 

Gene name
MCOLN2, TRP-ML2, TRPML2
Definition
(RefSeq) mucolipin 2
  KO
K04993  mucolipin 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04020 Calcium signaling pathway
    255231 (MCOLN2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    255231 (MCOLN2)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Transient receptor potential channel (TRP)
   255231 (MCOLN2)
SSDB
Motif
Pfam: PKD_channel Ion_trans
Other DBs
NCBI-GeneID: 255231
NCBI-ProteinID: NP_694991
OMIM: 607399
HGNC: 13357
Ensembl: ENSG00000153898
Vega: OTTHUMG00000009954
Pharos: Q8IZK6(Tbio)
UniProt: Q8IZK6
LinkDB
Structure
PDB: 
6HRR 6HRS

Position
1p22.3
AA seq 566 aa
MARQPYRFPQARIPERGSGVFRLTVRNAMAHRDSEMKEECLREDLKFYFMSPCEKYRARR
QIPWKLGLQILKIVMVTTQLVRFGLSNQLVVAFKEDNTVAFKHLFLKGYSGTDEDDYSCS
VYTQEDAYESIFFAINQYHQLKDITLGTLGYGENEDNRIGLKVCKQHYKKGTMFPSNETL
NIDNDVELDCVQLDLQDLSKKPPDWKNSSFFRLEFYRLLQVEISFHLKGIDLQTIHSREL
PDCYVFQNTIIFDNKAHSGKIKIYFDSDAKIEECKDLNIFGSTQKNAQYVLVFDAFVIVI
CLASLILCTRSIVLALRLRKRFLNFFLEKYKRPVCDTDQWEFINGWYVLVIISDLMTIIG
SILKMEIKAKNLTNYDLCSIFLGTSTLLVWVGVIRYLGYFQAYNVLILTMQASLPKVLRF
CACAGMIYLGYTFCGWIVLGPYHDKFENLNTVAECLFSLVNGDDMFATFAQIQQKSILVW
LFSRLYLYSFISLFIYMILSLFIALITDSYDTIKKFQQNGFPETDLQEFLKECSSKEEYQ
KESSAFLSCICCRRRKRSDDHLIPIS
NT seq 1701 nt   +upstreamnt  +downstreamnt
atggcccggcagccttatcgttttccccaggcaaggattccggagagaggatcaggtgtt
ttcaggttaaccgtcagaaatgcaatggcacatcgtgattctgagatgaaagaagaatgt
ctaagggaagacctgaagttttacttcatgagcccttgtgaaaaataccgagccagacgc
cagattccgtggaaactgggtttgcagattttgaagatagtcatggtcaccacacagctt
gttcgttttggtttaagtaaccagctggtggttgctttcaaagaagataacactgttgct
tttaagcacttgtttttgaaaggatattctggtacagatgaagatgactacagctgcagt
gtatatactcaagaggatgcctatgagagcatcttttttgctattaatcagtatcatcag
ctaaaggacattaccctggggacccttggttatggagaaaatgaagacaatagaattggc
ttaaaagtctgtaagcagcattacaagaaagggaccatgtttccttctaatgagacactg
aatattgacaacgacgttgagctcgattgtgttcaattagaccttcaggacctctccaag
aagcctccggactggaagaactcatcattcttcagactggaattttatcggctcttacag
gttgaaatctcctttcatcttaaaggcattgacctacagacaattcattcccgtgagtta
ccagactgttatgtctttcagaatacgattatctttgacaataaagctcacagtggcaaa
atcaaaatctattttgacagtgatgccaaaattgaagaatgtaaagacttgaacatattt
ggatctactcagaaaaatgctcagtatgtcctggtgtttgatgcatttgtcattgtgatt
tgcttggcatctcttattctgtgtacaagatccattgttcttgctctaaggttacggaag
agatttctaaatttcttcctggagaagtacaagcggcctgtgtgtgacaccgaccagtgg
gagttcatcaacggctggtatgtcctggtgattatcagcgacctaatgacaatcattggc
tccatattaaaaatggaaatcaaagcaaagaatctcacaaactatgatctctgcagcatt
tttcttggaacctctacgctcttggtttgggttggagtcatcagatacctgggttatttc
caggcatataatgtgctgattttaacaatgcaggcctcactgccaaaagttcttcggttt
tgtgcttgtgctggtatgatttatctgggttacacattctgtggctggattgtcttagga
ccataccatgacaagtttgaaaatctgaacacagttgctgagtgtctgttttctctggtc
aacggtgatgacatgtttgcaacctttgcccaaatccagcagaagagcatcttggtgtgg
ctgttcagtcgtctgtatttatattccttcatcagcctttttatatatatgattctcagt
ctttttattgcacttattacagattcttatgacaccattaagaaattccaacagaatggg
tttcctgaaacggatttgcaggaattcctgaaggaatgcagtagcaaagaagagtatcag
aaagagtcctcagccttcctgtcctgcatctgctgtcggaggaggaaaagaagtgatgat
cacttgatacctattagctaa

KEGG   Homo sapiens (human): 55283
Entry
55283             CDS       T01001                                 

Gene name
MCOLN3, TRP-ML3, TRPML3
Definition
(RefSeq) mucolipin 3
  KO
K04994  mucolipin 3
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04020 Calcium signaling pathway
    55283 (MCOLN3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    55283 (MCOLN3)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Transient receptor potential channel (TRP)
   55283 (MCOLN3)
SSDB
Motif
Pfam: PKD_channel Ion_trans
Other DBs
NCBI-GeneID: 55283
NCBI-ProteinID: NP_060768
OMIM: 607400
HGNC: 13358
Ensembl: ENSG00000055732
Vega: OTTHUMG00000009955
Pharos: Q8TDD5(Tbio)
UniProt: Q8TDD5
LinkDB
Structure
PDB: 
6AYF 6AYE 6AYG

Position
1p22.3
AA seq 553 aa
MADPEVVVSSCSSHEEENRCNFNQQTSPSEELLLEDQMRRKLKFFFMNPCEKFWARGRKP
WKLAIQILKIAMVTIQLVLFGLSNQMVVAFKEENTIAFKHLFLKGYMDRMDDTYAVYTQS
DVYDQLIFAVNQYLQLYNVSVGNHAYENKGTKQSAMAICQHFYKRGNIYPGNDTFDIDPE
IETECFFVEPDEPFHIGTPAENKLNLTLDFHRLLTVELQFKLKAINLQTVRHQELPDCYD
FTLTITFDNKAHSGRIKISLDNDISIRECKDWHVSGSIQKNTHYMMIFDAFVILTCLVSL
ILCIRSVIRGLQLQQEFVNFFLLHYKKEVSVSDQMEFVNGWYIMIIISDILTIIGSILKM
EIQAKSLTSYDVCSILLGTSTMLVWLGVIRYLGFFAKYNLLILTLQAALPNVIRFCCCAA
MIYLGYCFCGWIVLGPYHDKFRSLNMVSECLFSLINGDDMFATFAKMQQKSYLVWLFSRI
YLYSFISLFIYMILSLFIALITDTYETIKQYQQDGFPETELRTFISECKDLPNSGKYRLE
DDPPVSLFCCCKK
NT seq 1662 nt   +upstreamnt  +downstreamnt
atggcagatcctgaggtagttgtgagtagctgcagctctcatgaagaggaaaatcgctgc
aattttaaccagcaaacatctccatctgaggagcttctattagaagaccagatgaggcga
aaactcaaattttttttcatgaatccctgtgagaagttctgggctcgaggtagaaaacca
tggaaacttgccatacaaattctaaaaattgcaatggtgactatccagctggtcttattt
gggctaagtaaccagatggtggtagctttcaaggaagagaatactatagcattcaaacac
cttttcctaaaaggatatatggaccgaatggatgacacatatgcagtgtacacacaaagt
gacgtgtatgatcagttaatcttcgcagtaaaccagtacttgcagctatacaatgtctcc
gttgggaatcatgcttatgagaacaaaggtaccaagcaatctgctatggcaatctgtcag
cacttctacaagcgaggaaacatctaccctggaaatgatacctttgacatcgatccagaa
attgaaactgagtgtttctttgtggagccagatgaaccttttcacattgggacaccagca
gaaaataaactgaacttaacactggacttccacagactcctaacagtggagcttcagttt
aaactgaaagccattaatctgcagacagttcgtcatcaagaactccctgactgttatgac
tttactctgactataacatttgacaacaaggcccatagtggaagaattaaaataagttta
gataatgacatttccatcagagaatgtaaagactggcatgtatctggatcaattcagaag
aacactcattacatgatgatctttgatgcctttgtcattctgacttgcttggtttcatta
atcctctgcattagatctgtgattagaggacttcagcttcagcaggagtttgtcaatttt
ttcctcctccattataagaaggaagtttctgtttctgatcaaatggaatttgtcaatgga
tggtacattatgattattattagtgacatattgacaatcattggatcaattctaaaaatg
gaaatccaagctaagagtctaactagttatgatgtctgtagcatacttcttgggacttct
accatgctcgtgtggcttggagtcatccgatacctcggtttctttgcaaagtacaacctc
ctcattttgacccttcaggcagcgctgcccaatgtcatcaggttctgctgctgtgcagct
atgatttacttaggttactgcttctgtggatggatcgtgctggggccttaccatgacaag
tttcgttctctgaacatggtctctgagtgccttttctctctgataaatggagatgatatg
tttgccacgtttgcaaaaatgcagcaaaaaagttacttagtctggctgtttagtagaatt
tacctctactcattcatcagcctctttatatatatgattttaagtcttttcattgcactg
atcactgatacatacgaaacaattaagcaataccaacaagatggcttcccagagactgaa
cttcgtacatttatatcagaatgcaaagatctacccaactctggaaaatacagattagaa
gatgaccctccagtatctttattctgctgttgtaaaaagtag

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
LinkDB
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

DBGET integrated database retrieval system