KEGG ORTHOLOGY: K04992

ORTHOLOGY: K04992

Entry

K04992                      KO

Symbol

MCOLN1, TRPML1

Name

mucolipin 1

Pathway

map04020

Calcium signaling pathway

map04142

Lysosome

Disease

H00144

Mucolipidosis IV

H02822

Lisch epithelial corneal dystrophy

Brite

KEGG Orthology (KO) [BR:ko00001]
09130 Environmental Information Processing
  09132 Signal transduction
   04020 Calcium signaling pathway
    K04992  MCOLN1, TRPML1; mucolipin 1
09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    K04992  MCOLN1, TRPML1; mucolipin 1
09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels
    K04992  MCOLN1, TRPML1; mucolipin 1
Ion channels [BR:ko04040]
Voltage-gated cation channels
  Transient receptor potential channel (TRP)
   K04992  MCOLN1, TRPML1; mucolipin 1

Other DBs

GO:	0005262 0072345

TC:

1.A.5.3.1

Genes

HSA:	57192(MCOLN1)

PTR:	455656(MCOLN1)

PPS:	100985054(MCOLN1)

GGO:	101146054(MCOLN1)

PON:	100453649(MCOLN1)

PPYG:

129019748(MCOLN1)

NLE:	100601142(MCOLN1)

HMH:	116478352(MCOLN1)

SSYN:

129461236(MCOLN1)

MCC:	703775(MCOLN1)

MCF:	102143748(MCOLN1)

MTHB:

126942579

MNI:	105484467(MCOLN1)

CSAB:

103233800(MCOLN1)

CATY:

105589157(MCOLN1)

PANU:

101015107(MCOLN1)

TGE:	112612039(MCOLN1)

MLEU:

105541155(MCOLN1)

RRO:	104679486(MCOLN1)

RBB:	108534588(MCOLN1)

TFN:	117076111(MCOLN1)

PTEH:

111522604(MCOLN1)

CANG:

105512904(MCOLN1)

CJC:	100404136(MCOLN1)

SBQ:	101031418(MCOLN1)

CIMI:

108283676(MCOLN1)

ANAN:

105706050(MCOLN1)

CSYR:

103252239(MCOLN1)

MMUR:

105885634(MCOLN1)

LCAT:

123635291(MCOLN1)

PCOQ:

105807927(MCOLN1)

OGA:	100964661(MCOLN1)

MMU:	94178(Mcoln1)

MCAL:

110299770(Mcoln1)

MPAH:

110336924(Mcoln1)

RNO:	288371(Mcoln1)

MCOC:

116068831(Mcoln1)

ANU:	117697965(Mcoln1)

ASYL:

127672361(Mcoln1)

CGE:	100771505(Mcoln1)

MAUA:

101824034(Mcoln1)

PLEU:

114683161(Mcoln1)

MORG:

121464633(Mcoln1)

MFOT:

126491600

AAMP:

119825460(Mcoln1)

NGI:	103743304(Mcoln1)

HGL:	101697714(Mcoln1)

CPOC:

100719219(Mcoln1)

CCAN:

109694016(Mcoln1)

DORD:

105998783(Mcoln1)

DSP:	122119681(Mcoln1)

PLOP:

125348702(Mcoln1)

NCAR:

124968670

MMMA:

107157476(Mcoln1)

ITI:	106145109(Mcoln1)

OCU:

100355495

OPI:	101521753(MCOLN1)

TUP:	102467917(MCOLN1)

GVR:	103596858(MCOLN1)

CFA:	611517(MCOLN1)

CLUD:

112666445(MCOLN1)

VVP:	112909646(MCOLN1)

VLG:	121494689(MCOLN1)

NPO:	129521560(MCOLN1)

AML:	100474979(MCOLN1)

UMR:	103681745(MCOLN1)

UAH:	113242934(MCOLN1)

UAR:	123777551(MCOLN1)

ELK:

111161850

LLV:

125085551

MPUF:

101672689(MCOLN1)

MNP:	132010912(MCOLN1)

MLK:	131823450(MCOLN1)

NVS:	122909784(MCOLN1)

ORO:	101363074(MCOLN1)

EJU:	114200870(MCOLN1)

ZCA:	113916523(MCOLN1)

MLX:	118005979(MCOLN1)

NSU:	110593689(MCOLN1)

LWW:	102729325(MCOLN1)

FCA:	101097951(MCOLN1)

PYU:	121013917(MCOLN1)

PCOO:

112852902(MCOLN1)

PBG:	122488645(MCOLN1)

PVIV:

125156639(MCOLN1)

LRUF:

124522939

LGF:	123607343(MCOLN1)

AJU:

106970798

PTG:	102952662(MCOLN1)

PPAD:

109254182(MCOLN1)

PUC:

125928987

PLEZ:

122213898(MCOLN1)

HHV:	120244840(MCOLN1)

BTA:	505738(MCOLN1)

BOM:	102284112(MCOLN1)

BIU:	109561640(MCOLN1)

BBUB:

102413845(MCOLN1)

BBIS:

104979941(MCOLN1)

CHX:	102169278(MCOLN1)

OAS:	101121931(MCOLN1)

BTAX:

128050317(MCOLN1)

CSUM:

138085788(MCOLN1)

ODA:	120863913(MCOLN1)

CCAD:

122440368(MCOLN1)

MREE:

136155773(MCOLN1)

OVR:	110122810(MCOLN1)

MBEZ:

129558315(MCOLN1)

SSC:	100524240(MCOLN1)

CFR:	102521778(MCOLN1) 116660211

CBAI:

105078274(MCOLN1)

CDK:	105087559 116147126

VPC:	102527057(MCOLN1)

BACU:

103010325(MCOLN1)

BMUS:

118892142(MCOLN1)

LVE:	103086932(MCOLN1)

OOR:	101283765(MCOLN1)

LALB:

132517696(MCOLN1)

DLE:	111165999(MCOLN1)

PCAD:

102985977(MCOLN1)

PSIU:

116750921(MCOLN1)

NASI:

112400334(MCOLN1)

ECB:	100066441(MCOLN1)

EPZ:	103540431(MCOLN1)

EAI:	106844519(MCOLN1)

MYB:	102253982(MCOLN1)

MYD:	102751294(MCOLN1)

MMYO:

118657720(MCOLN1)

MLF:	102435909(MCOLN1)

MDT:	132234619(MCOLN1)

MYUM:

139011283(MCOLN1)

PKL:	118725888(MCOLN1)

EFUS:

103295094(MCOLN1)

MNA:	107540645(MCOLN1)

DRO:	112296376(MCOLN1)

SHON:

118987710(MCOLN1)

AJM:	119045325(MCOLN1)

PDIC:

114509978(MCOLN1)

PHAS:

123806682(MCOLN1)

MMF:	118615891(MCOLN1)

PPAM:

129064993(MCOLN1)

HAI:	109396081(MCOLN1)

RFQ:	117037543(MCOLN1)

PALE:

102896366(MCOLN1)

PGIG:

120599237(MCOLN1)

PVP:

105307429

RAY:	107519913(MCOLN1)

MJV:	108399684(MCOLN1) 118969396

TOD:	119240428(MCOLN1)

SARA:

101558086(MCOLN1)

SFUM:

130022400(MCOLN1)

SETR:

126031142(MCOLN1)

LAV:	100669517(MCOLN1)

TMU:

101343957

ETF:	101658961(MCOLN1)

DNM:	101426855(MCOLN1)

MDO:	100027081(MCOLN1)

GAS:	123244478(MCOLN1)

SHR:	100928178(MCOLN1)

AFZ:

127545331

PCW:	110203370(MCOLN1)

TVP:	118833782(MCOLN1)

PBRV:

138164691(MCOLN1)

OAA:	100092020(MCOLN1)

TACU:

119919778(MCOLN1)

GGA:	426164(MCOLN1)

PCOC:

116238966(MCOLN1)

MGP:	100550581(MCOLN1)

TPAI:

128079428(MCOLN1)

LMUT:

125686293(MCOLN1)

NMEL:

110391134(MCOLN1)

APLA:

119714243 119714244

ACYG:

106049455(MCOLN1)

CATA:

118261180(MCOLN1)

AFUL:

116500075(MCOLN1)

TGU:	105760771(MCOLN1)

LSR:

110481142

OTC:

121341602

PRUF:

121356400

ATRC:

139585735(MCOLN1)

FAB:

101821900

OMA:

130263098

PHI:	102113469(MCOLN1)

CBRC:

108446069

ACOE:

138100123(MCOLN1)

ETL:

114072899

ZLE:	135441494(MCOLN1)

CCIC:

134055472(MCOLN1)

FPG:	101922304(MCOLN1)

FCH:	102046017(MCOLN1)

CCRI:

104163952(MCOLN1)

NNT:

104409034

SHAB:

115603554(MCOLN1)

TALA:

104364130(MCOLN1)

ACHC:

115348253(MCOLN1)

HALD:

104318456(MCOLN1)

HLE:	104832612(MCOLN1)

AGEN:

126042435

HHAR:

128146851(MCOLN1)

EGZ:	104124659(MCOLN1)

NNI:	104014973(MCOLN1)

PCRI:

104035333(MCOLN1)

AFOR:

103894326(MCOLN1)

FGA:	104079547(MCOLN1)

GSTE:

104258076(MCOLN1)

CLV:

102089785

MUI:	104533421(MCOLN1)

PLET:

104614590(MCOLN1)

CUCA:

104067412(MCOLN1)

BREG:

104642908(MCOLN1)

OHA:	104334149(MCOLN1)

ACAR:

104518501(MCOLN1)

CVF:

104286921

RTD:	128901482(MCOLN1)

CRID:

134507982(MCOLN1)

AAM:

106487493

AROW:

112960557(MCOLN1)

NPD:	112955240(MCOLN1)

TGT:	104565303(MCOLN1)

DNE:	112993053(MCOLN1)

SCAM:

104141219(MCOLN1)

ASN:	102377928(MCOLN1)

AMJ:	102577120(MCOLN1)

PSS:	102462062(MCOLN1)

CMY:	102937146(MCOLN1)

CCAY:

125628964 125628971(MCOLN1)

DCC:	119845823(MCOLN1)

CPIC:

101933731(MCOLN1)

TST:	117889433(MCOLN1)

CABI:

116817900(MCOLN1)

MRV:	120391010(MCOLN1)

ACS:	100554932(mcoln1)

ASAO:

132768001(MCOLN1)

PVT:	110077986(MCOLN1)

SUND:

121922382(MCOLN1) 121928938

PBI:

103059958

PMUR:

107287121(MCOLN1)

CTIG:

120305079(MCOLN1)

TSR:	106538219(MCOLN1)

PGUT:

117677547(MCOLN1)

APRI:

131190860(MCOLN1)

PTEX:

113446878(MCOLN1)

NSS:	113419976(MCOLN1)

VKO:	123019424(MCOLN1)

PMUA:

114587695(MCOLN1)

PRAF:

128405125(MCOLN1)

ZVI:	118097908(MCOLN1)

HCG:	128346014(MCOLN1)

GJA:	107105429(MCOLN1)

EMC:	129346105(MCOLN1)

XLA:	444113(mcoln1.L) 734471(MGC115291)

XTR:	496811(mcoln1)

NPR:	108795663(MCOLN1)

RTEM:

120933207(MCOLN1)

BBUF:

120986242(MCOLN1)

BGAR:

122929437(MCOLN1)

PWL:	138292843(MCOLN1)

MUO:	115464328(MCOLN1)

GSH:	117350704(MCOLN1)

DRE:	406689(mcoln1a) 795916(mcoln1b)

SRX:	107712220 107718592 107755617

SANH:

107672921 107676888 107692143

SGH:	107561871 107603030

CCAR:

109050735(mcoln1a) 109080136

CAUA:

113048469 113054976 113063893 113067769 113067857 113098192

CGIB:

127942032 127948633 127952531 128018819

PTET:

122341667(mcoln1b) 122348073(mcoln1a)

LROH:

127163389(mcoln1b) 127170245(mcoln1a)

OMC:	131536002(mcoln1b) 131548002(mcoln1a)

PPRM:

120481506(mcoln1b) 120490095(mcoln1a)

RKG:	130084928(mcoln1a) 130106314(mcoln1b)

MAMB:

125270358(mcoln1b) 125272005(mcoln1a)

CIDE:

127509518

CERY:

137008863(mcoln1b) 137032022(mcoln1a)

MASI:

127443863 127444880 127452197

TROS:

130553596(mcoln1a) 130561108(mcoln1b)

TDW:	130412976(mcoln1a) 130425929(mcoln1b)

MANU:

129422320(mcoln1b) 129444207(mcoln1a)

PDAB:

135746788 135769053(mcoln1b) 135785867

IPU:	108258996(mcoln1a) 108272827(mcoln1b)

IFU:	128602211(mcoln1a) 128615932(mcoln1b)

PHYP:

113534676 113537656(mcoln1)

SMEO:

124378128(mcoln1a) 124381886(mcoln1b)

TFD:	113648665(mcoln1a) 113650477(mcoln1b)

TVC:	132839167(mcoln1a) 132842635(mcoln1b)

CGAR:

128506612(mcoln1a) 128515899(mcoln1b)

NGRA:

132866228(mcoln1a) 132870655(mcoln1b)

TRN:	134328688(mcoln1a) 134334227(mcoln1b)

AMEX:

103025916(mcoln1b) 103039116(mcoln1a)

CMAO:

118802955(mcoln1a) 118805313(mcoln1b)

EEE:	113580333(mcoln1) 113584857

CHAR:

105898696(mcoln1b) 105905919

SPIL:

134076707(mcoln1b) 134091152

TRU:	101069226(mcoln1)

TFS:	130527889(mcoln1a)

TNG:	GSTEN00026358G001

LCO:	104926530 104930122

NCC:	104944678(mcoln1)

TBEN:

117479978 117482134

CGOB:

115009420 115012354

PGEO:

117446867(mcoln1a) 117451243 117451756

GACU:

117535501 117538036

EMAC:

134864777 134877447

ELY:	117255866(mcoln1a) 117267839(mcoln1b)

EFO:	125878777(mcoln1b) 125886633(mcoln1a)

PLEP:

121942251(mcoln1a) 121957128(mcoln1b)

SLUC:

116042870 116046740

ECRA:

117935064(mcoln1a) 117958118

ESP:	116703350 116706740

PFLV:

114568867 114570325

GAT:	120825574(mcoln1a) 120827490(mcoln1b)

PPUG:

119218489(mcoln1a) 119220780(mcoln1b)

AFB:	129095490(mcoln1a) 129098984(mcoln1b)

CLUM:

117734471(mcoln1a) 117735506(mcoln1b)

PSWI:

130189150 130189508 130193620

CANA:

137787053(mcoln1b) 137795220(mcoln1a)

CVE:	137885135 137892088

MSAM:

119883157 119899290

SCHU:

122869457(mcoln1b) 122873596(mcoln1a)

CUD:	121503338(mcoln1b) 121508461(mcoln1a)

SPUL:

138594504(mcoln1a) 138604175(mcoln1b)

LMIX:

132992860(mcoln1a) 132995275(mcoln1b)

ALAT:

119013657(mcoln1b) 119026663(mcoln1a)

ASTR:

137600846 137609069

MZE:	101475291 101477595

ONL:	100697794 100708610

OAU:	116310944(mcoln1a) 116326895(mcoln1b)

OLA:	101160414 101164208

OML:	112146759(mcoln1b) 112157182(mcoln1a)

CSAI:

133421922(mcoln1b) 133450507(mcoln1a)

XMA:	102229677 102231150

XCO:	114145463 114148262(mcoln1)

XHE:	116720019 116735638

PRET:

103467683 103468353(mcoln1)

PFOR:

103150090 103150122 103154954

PLAI:

106942879 106943506 106957023(mcoln1)

PMEI:

106911702 106912756 106930626(mcoln1)

GAF:	122822065 122830217

PPRL:

129363129

CVG:	107087683(mcoln1) 107102757

CTUL:

119774277 119786870(mcoln1b)

GMU:	124863542 124863853 124868568(mcoln1a)

NFU:	107382349 107396843(mcoln1)

KMR:	108236061(mcoln1b) 108242693(mcoln1a)

ALIM:

106515287 106517836

NWH:	119421993(mcoln1b) 119423186(mcoln1a)

AOCE:

111564224(mcoln1a) 111568497(mcoln1b)

EJA:	138198147(mcoln1b) 138209381(mcoln1a)

BFRE:

138620197(mcoln1a) 138622396(mcoln1b)

MCEP:

124998331(mcoln1b) 125004464(mcoln1a)

CSEM:

103383567 103393644(mcoln1)

POV:	109627204 109641317

SSEN:

122771639 122785781

SSOE:

131467612(mcoln1a) 131476068(mcoln1b)

HHIP:

117762295(mcoln1a) 117766469(mcoln1b)

HSP:	118122579 118123888

PPLT:

128436582(mcoln1a) 128459200(mcoln1b)

SMAU:

118289011 118311893

LCF:	108875884 108898701

SDU:	111223690 111236353

SLAL:

111659788(mcoln1) 111662419

XGL:	120788260(mcoln1b) 120800872(mcoln1a)

HCQ:	109511179 109530053

SSCV:

125969089 125984065

SBIA:

133506423 133514931

PEE:	133403604 133414756

PTAO:

133465378 133477189

BPEC:

110166168 110171870

ENY:	140358656 140377846(mcoln1a)

MALB:

109966285 109973470

BSPL:

114858409(mcoln1a) 114860197

SJO:	128364627(mcoln1a) 128378317(mcoln1b)

SSCO:

133990352(mcoln1a) 133999903(mcoln1b)

GMH:	115529396 115540989

SASA:

106564897 106588379 106601344 106607019

STRU:

115170544 115177804 115201301 115208613

OTW:	112226297 112230335 112245502 112258817

OMY:	110485962 110486502 110493683 110538285

OGO:	124003965 124015497 124015758

ONE:	115103818 115110439 115110580 115142613

OKI:	109865712 109875966 109891952 109893490

OKE:	118364966 118365546 118384643 118389204

OMM:	135522612 135539316 135554286 135555479

OCLA:

139364886 139370474 139421378 139424676

SALP:

111955855 112069395

SNH:	120032903 120038485 120046337(mcoln1b) 120065782

CCLU:

121533255 121551009 121569433 123487508

ELS:	105021549 105028360

OEP:	134008829(mcoln1a)

SFM:	108937161 108939767

PKI:	111833579 111856354

AANG:

118217225(mcoln1b) 118221400(mcoln1a)

AROT:

135243018(mcoln1b) 135248963(mcoln1a)

CCOG:

133114732 133122569(mcoln1a)

LOC:	102695852(mcoln1)

PSPA:

121309113(mcoln1a)

ARUT:

117402067 117968267

PSEX:

120540002(mcoln1a)

LCM:	102364905(MCOLN1)

CMK:	103190825(mcoln1a)

RTP:	109925810(mcoln1a)

CPLA:

122552165(mcoln1a)

HOC:	132835836(mcoln1a)

LERI:

129714402(mcoln1a)

MMER:

RPHI:

ATEN:

Reference

PMID:11030752

Authors

Sun M, Goldin E, Stahl S, Falardeau JL, Kennedy JC, Acierno JS Jr, Bove C, Kaneski CR, Nagle J, Bromley MC, Colman M, Schiffmann R, Slaugenhaupt SA

Title

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.

Journal

Hum Mol Genet 9:2471-8 (2000)
DOI:10.1093/hmg/9.17.2471

Sequence

[hsa:57192]

LinkDB

DBGET integrated database retrieval system