KEGG ORTHOLOGY: K23863

ORTHOLOGY: K23863

Entry

K23863                      KO

Symbol

OSTM1

Name

osteopetrosis-associated transmembrane protein 1 (chloride channel 7 beta subunit)

Disease

H00436

Osteopetrosis

Brite

KEGG Orthology (KO) [BR:ko00001]
09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking
    K23863  OSTM1; osteopetrosis-associated transmembrane protein 1 (chloride channel 7 beta subunit)
  09183 Protein families: signaling and cellular processes
   04040 Ion channels
    K23863  OSTM1; osteopetrosis-associated transmembrane protein 1 (chloride channel 7 beta subunit)
Membrane trafficking [BR:ko04131]
Endosome - Lysosome transport
  Others
   Lysosomal membrane proteins
    K23863  OSTM1; osteopetrosis-associated transmembrane protein 1 (chloride channel 7 beta subunit)
Ion channels [BR:ko04040]
Chloride channels
  Chloride channel (CLC)
   K23863  OSTM1; osteopetrosis-associated transmembrane protein 1 (chloride channel 7 beta subunit)

Other DBs

TC:	2.A.49.3.3

Genes

HSA:	28962(OSTM1)

PTR:	739203(OSTM1)

PPS:	100973338(OSTM1)

GGO:	101152887(OSTM1)

PON:	100449973(OSTM1)

PPYG:

129037822(OSTM1)

NLE:	100590931(OSTM1)

HMH:	116470608(OSTM1)

SSYN:

129471652(OSTM1)

MCC:	701341(OSTM1)

MCF:	101865629(OSTM1)

MTHB:

126953661

MNI:	105492034(OSTM1)

CSAB:

103240626(OSTM1)

CATY:

105581336(OSTM1)

PANU:

100137453(OSTM1)

TGE:	112623394(OSTM1)

MLEU:

105536548(OSTM1)

RRO:	104677466(OSTM1)

RBB:	108533817(OSTM1)

TFN:	117097170(OSTM1)

PTEH:

111538541(OSTM1)

CANG:

105519521(OSTM1)

CJC:	100414258(OSTM1)

SBQ:	101032980(OSTM1)

CIMI:

108314724(OSTM1)

ANAN:

105709458(OSTM1)

CSYR:

103267289(OSTM1)

MMUR:

105864987(OSTM1)

LCAT:

123633131(OSTM1)

PCOQ:

105815895(OSTM1)

OGA:	100947384(OSTM1)

MMU:	14628(Ostm1)

MCAL:

110303361(Ostm1)

MPAH:

110326753(Ostm1)

RNO:	499474(Ostm1)

MCOC:

116074946(Ostm1)

ANU:	117724850(Ostm1)

ASYL:

127669543(Ostm1)

MUN:	110552808(Ostm1)

CGE:	100769449(Ostm1)

MAUA:

101825057(Ostm1)

PROB:

127215179(Ostm1)

PLEU:

114710671(Ostm1)

MORG:

121450181(Ostm1)

MFOT:

126487610

AAMP:

119821256(Ostm1)

NGI:	103747772(Ostm1)

HGL:	101701537(Ostm1)

CPOC:

100712630(Ostm1)

CCAN:

109690637(Ostm1)

DORD:

105990076(Ostm1)

DSP:	122118241(Ostm1)

PLOP:

125357078(Ostm1)

NCAR:

124989698

MMMA:

107154289(Ostm1)

ITI:	101956092(Ostm1)

OCU:	100328697(OSTM1)

OPI:	101523991(OSTM1)

TUP:	102478793(OSTM1)

GVR:	103597891(OSTM1)

CFA:	612165(OSTM1)

CLUD:

112658420(OSTM1)

VVP:	112925151(OSTM1)

VLG:	121496883(OSTM1)

NPO:	129513023(OSTM1)

AML:	100478313(OSTM1)

UMR:	103675838(OSTM1)

UAH:	113264768(OSTM1)

UAR:	123798500(OSTM1)

ELK:

111158267

LLV:

125102756

MPUF:

101682193(OSTM1)

MNP:	132018340(OSTM1)

MLK:	131833542(OSTM1)

NVS:	122904084(OSTM1)

ORO:	101366756(OSTM1)

EJU:	114209970(OSTM1)

ZCA:	113927138(OSTM1)

MLX:	118001570(OSTM1)

NSU:	110583076(OSTM1)

LWW:	102740124(OSTM1)

FCA:	101098144(OSTM1)

PYU:	121029864(OSTM1)

PCOO:

112862689(OSTM1)

PBG:	122489832(OSTM1)

PVIV:

125166118(OSTM1)

LRUF:

124528299

LGF:	123608816(OSTM1)

AJU:

106989101

PTG:	102962798(OSTM1)

PPAD:

109263501(OSTM1)

PUC:

125938767

PLEZ:

122220240(OSTM1)

HHV:	120235236(OSTM1)

BTA:	518522(OSTM1)

BOM:	102279180(OSTM1)

BIU:	109563850(OSTM1)

BBUB:

102415103(OSTM1)

BBIS:

105000708(OSTM1)

CHX:	102189757(OSTM1)

OAS:	101118028(OSTM1)

BTAX:

128053035(OSTM1)

CSUM:

138089705(OSTM1)

ODA:	120862545(OSTM1)

CCAD:

122422789(OSTM1)

MREE:

136150831(OSTM1)

OVR:	110136563(OSTM1)

MBEZ:

129560919(OSTM1)

SSC:	100049681(OSTM1)

CFR:	102521583(OSTM1)

CBAI:

105077097(OSTM1)

CDK:	105097122(OSTM1)

VPC:	102529140(OSTM1)

BACU:

102997568(OSTM1)

BMUS:

118905436(OSTM1)

LVE:	103083165(OSTM1)

OOR:	101289529(OSTM1)

LALB:

132530281(OSTM1)

DLE:	111168140(OSTM1)

PCAD:

102977576(OSTM1)

PSIU:

116763447(OSTM1)

NASI:

112406397(OSTM1)

ECB:	100072113(OSTM1)

EPZ:	103551246(OSTM1)

EAI:	106829771(OSTM1)

MYB:	102256377(OSTM1)

MYD:	102752533(OSTM1)

MMYO:

118660092(OSTM1)

MLF:	102432869(OSTM1)

MDT:	132237021(OSTM1)

MYUM:

139012283(OSTM1)

PKL:	118706167(OSTM1)

EFUS:

103284687(OSTM1)

MNA:	107540721(OSTM1)

DRO:	112296995(OSTM1)

SHON:

119000144(OSTM1)

AJM:	119059402(OSTM1)

PDIC:

114494700(OSTM1)

PHAS:

123822097(OSTM1)

MMF:	118621882(OSTM1)

PPAM:

129067680(OSTM1)

HAI:	109391414(OSTM1)

RFQ:	117020849(OSTM1)

PALE:

102889211(OSTM1)

PGIG:

120608093(OSTM1)

PVP:	105292513(OSTM1)

RAY:	107518497(OSTM1)

MJV:	108405690(OSTM1)

TOD:	119252750(OSTM1)

SARA:

101554022(OSTM1)

SFUM:

130033481(OSTM1)

SETR:

126007116(OSTM1)

LAV:	100667544(OSTM1)

TMU:

101353544

ETF:	101653958(OSTM1)

DNM:	101423950(OSTM1)

MDO:	100028787(OSTM1)

GAS:	123246556(OSTM1)

SHR:	100916033(OSTM1)

AFZ:

127562059

PCW:	110222900(OSTM1)

TVP:	118857172(OSTM1)

PBRV:

138152984(OSTM1)

OAA:	100080636(OSTM1)

TACU:

119940684(OSTM1)

GGA:	421773(OSTM1)

PCOC:

116240501(OSTM1)

MGP:	100546490(OSTM1)

CJO:	107311881(OSTM1)

TPAI:

128083923(OSTM1)

LMUT:

125689899(OSTM1)

NMEL:

110396341(OSTM1)

APLA:

101805262(OSTM1)

ACYG:

106032540(OSTM1)

CATA:

118257174(OSTM1)

AFUL:

116487690(OSTM1)

TGU:	100219619(OSTM1)

LSR:	110483702(OSTM1)

SCAN:

103822257(OSTM1)

PMOA:

120511066(OSTM1)

OTC:	121341426(OSTM1)

PRUF:

121359286(OSTM1)

ATRC:

139595729(OSTM1)

GFR:	102033822(OSTM1)

FAB:	101809725(OSTM1)

OMA:	130251901(OSTM1)

PHI:	102099257(OSTM1)

PMAJ:

107202510(OSTM1)

CCAE:

111927256(OSTM1)

CCW:	104694128(OSTM1)

CBRC:

103619383(OSTM1)

ACOE:

138108410(OSTM1)

ETL:	114063250(OSTM1)

ZAB:	102068136(OSTM1)

ZLE:	135445418(OSTM1)

ACHL:

103801068(OSTM1)

SVG:	106860176(OSTM1)

MMEA:

130589014(OSTM1)

HRT:	120747848(OSTM1)

SATI:

136358990(OSTM1)

CCIC:

134041757(OSTM1)

FPG:	101918996(OSTM1)

FCH:	102052969(OSTM1)

CCRI:

104156535(OSTM1)

SHAB:

115609736(OSTM1)

ACUN:

113477691(OSTM1)

TALA:

104362279(OSTM1)

ACHC:

115335261(OSTM1)

HALD:

104320942(OSTM1)

HLE:	104835455(OSTM1)

AGEN:

126046084

HHAR:

128139253(OSTM1)

GCL:

127015102

CSTI:

104551464(OSTM1)

LDI:	104344464(OSTM1)

MNB:	103777584(OSTM1)

DPUB:

104296627(OSTM1)

PPUS:

135189620(OSTM1)

AVIT:

104268841(OSTM1)

BRHI:

104501525(OSTM1)

EGZ:	104131582(OSTM1)

NNI:	104011143(OSTM1)

PCRI:

104034293(OSTM1)

PCAO:

104051395(OSTM1)

PADL:

103920242(OSTM1)

AFOR:

103898784(OSTM1)

FGA:	104081414(OSTM1)

GSTE:

104255777(OSTM1)

CBOY:

140649017(OSTM1)

CLV:	102095159(OSTM1)

MUI:	104537717(OSTM1)

PGUU:

104459552(OSTM1)

PLET:

104615219(OSTM1)

EHS:	104517169(OSTM1)

CMAC:

104486468(OSTM1)

CUCA:

104062782(OSTM1)

TEO:	104378195(OSTM1)

BREG:

104644071(OSTM1)

OHA:	104331711(OSTM1)

CPEA:

104388159(OSTM1)

CVF:	104294278(OSTM1)

RTD:	128907425(OSTM1)

CRID:

134513329(OSTM1)

AAM:	106489609(OSTM1)

AROW:

112974145(OSTM1)

NPD:	112945121(OSTM1)

TGT:	104576671(OSTM1)

DNE:	112995163(OSTM1)

SCAM:

104145452(OSTM1)

ASN:	102374331(OSTM1)

AMJ:	102564791(OSTM1)

CPOO:

109312137(OSTM1)

GGN:	109299629(OSTM1)

PSS:	102454718(OSTM1)

CMY:	102931745(OSTM1)

CCAY:

125634313(OSTM1)

DCC:	119853601(OSTM1)

CPIC:

101943542(OSTM1)

TST:	117875053(OSTM1)

CABI:

116825553(OSTM1)

MRV:	120401757(OSTM1)

ACS:	100561352(ostm1)

ASAO:

132760846(OSTM1)

PVT:	110083143(OSTM1)

SUND:

121915233(OSTM1)

PBI:	103052426(OSTM1)

PMUR:

107292060(OSTM1)

CTIG:

120311873(OSTM1)

TSR:	106545061(OSTM1)

PGUT:

117660827(OSTM1)

APRI:

131193863(OSTM1)

PTEX:

113455342(OSTM1)

NSS:	113411530(OSTM1)

VKO:	123021803(OSTM1)

PMUA:

114594017(OSTM1)

PRAF:

128410408(OSTM1)

ZVI:	118082207(OSTM1)

HCG:	128343454(OSTM1)

GJA:	107124095(OSTM1)

STOW:

125430906(OSTM1)

EMC:	129331400(OSTM1)

XLA:	108716843(ostm1.L) 108717945(ostm1.S)

XTR:	780037(ostm1)

NPR:	108784658(OSTM1)

RTEM:

120937185(OSTM1)

BBUF:

120998244(OSTM1)

BGAR:

122934949(OSTM1)

PWL:	138296375(OSTM1)

MUO:	115459161(OSTM1)

GSH:	117356981(OSTM1)

DRE:	100320445(ostm1)

SRX:	107726483 107726635

SANH:

107679497 107696130

SGH:	107601199 107601371

CCAR:

109057055(ostm1) 122141110

CAUA:

113063089 113063134

CGIB:

127938887

PTET:

122325156(ostm1)

LROH:

127183443(ostm1)

PPRM:

120493517(ostm1)

RKG:	130104342(ostm1)

MAMB:

125278152(ostm1)

CIDE:

127501897

CERY:

137019045(ostm1)

MASI:

127410446 127415953

TROS:

130566389(ostm1)

TDW:	130434813(ostm1)

MANU:

129429614(ostm1)

PDAB:

135738087 135738718

IPU:

108279103

IFU:	128621462(ostm1)

PHYP:

113529175(ostm1)

SMEO:

124401109(ostm1)

TFD:	113643386(ostm1)

TVC:	132854656(ostm1)

CGAR:

128511229(ostm1)

NGRA:

132881557(ostm1)

TRN:	134319882(ostm1)

AMEX:

103023847(ostm1)

CMAO:

118815904(ostm1)

EEE:	113580778(ostm1)

CHAR:

105904200(ostm1)

SPIL:

134098047(ostm1)

TRU:	101072719(ostm1)

TFS:	130516621(ostm1)

TNG:	GSTEN00023101G001

LCO:	104922561(ostm1)

NCC:	104966132(ostm1)

TBEN:

117492862(ostm1)

CGOB:

115028763(ostm1)

PGEO:

117439857(ostm1)

GACU:

117555753(ostm1)

EMAC:

134877121(ostm1)

ELY:	117270447(ostm1)

EFO:	125897329(ostm1)

PLEP:

121955972(ostm1)

SLUC:

116066228(ostm1)

ECRA:

117961682(ostm1)

ESP:	116706034(ostm1)

PFLV:

114573310(ostm1)

GAT:	120808463(ostm1)

PPUG:

119195208(ostm1)

AFB:	129107285(ostm1)

CLUM:

117727639(ostm1)

PSWI:

130202519(ostm1)

CANA:

137785333(ostm1)

CVE:	137882392(ostm1)

MSAM:

119909027(ostm1)

SCHU:

122863328(ostm1)

CUD:	121520936(ostm1)

SPUL:

138585007(ostm1)

LMIX:

132984916(ostm1)

ALAT:

119012215(ostm1)

ASTR:

137613464(ostm1)

MZE:	101482199(ostm1)

ONL:	100695578(ostm1)

OAU:	116310769(ostm1)

OLA:	101155979(ostm1)

OML:	112158086(ostm1)

CSAI:

133418681(ostm1)

XMA:	102218538(ostm1)

XCO:	114158914(ostm1)

XHE:	116734468(ostm1)

PRET:

103457484(ostm1)

PFOR:

103134570(ostm1)

PLAI:

106961287(ostm1)

PMEI:

106921909(ostm1)

GAF:	122825819(ostm1)

PPRL:

129352431(ostm1)

CVG:	107081261(ostm1)

CTUL:

119781260(ostm1)

GMU:	124881537(ostm1)

NFU:	107377529(ostm1)

KMR:	108240074(ostm1)

ALIM:

106518639(ostm1)

NWH:	119418246(ostm1)

AOCE:

111580083(ostm1)

EJA:	138203361(ostm1)

BFRE:

138634629(ostm1)

MCEP:

124999504(ostm1)

CSEM:

103380648(ostm1)

POV:	109635941(ostm1)

SSEN:

122784571(ostm1)

SSOE:

131444149(ostm1)

HHIP:

117758470(ostm1)

HSP:	118099788(ostm1)

PPLT:

128460369(ostm1)

SMAU:

118290120(ostm1)

LCF:

108880925

SDU:	111240102(ostm1)

SLAL:

111658310(ostm1)

XGL:	120788584(ostm1)

HCQ:	109531028(ostm1)

SSCV:

125989936(ostm1)

SBIA:

133496778(ostm1)

PEE:	133417052(ostm1)

PTAO:

133468295(ostm1)

BPEC:

110169699(ostm1)

ENY:	140358429(ostm1)

MALB:

109953087(ostm1)

BSPL:

114849660(ostm1)

SJO:	128376952(ostm1)

SSCO:

133997943(ostm1)

GMH:	115534526(ostm1)

SASA:

100846964(ostm1) 106571796(OSTM1)

STRU:

115174428 115175989

OTW:	112217797 112233616

OMY:	110522356 110529917

OGO:	123991043 123995261(ostm1)

ONE:	115108047 115140473

OKI:	109866456 109901010(ostm1)

OKE:	118382823 118387052(ostm1)

OMM:	135505754 135557774

OCLA:

139407275

SALP:

111972938 112070301

SNH:	120019119 120024358(ostm1)

CCLU:

121548756 121552440

ELS:	105017483(ostm1)

OEP:	134025058(ostm1)

SFM:	108920832(ostm1)

PKI:	111856295(ostm1)

AANG:

118230639(ostm1)

AROT:

135257573(ostm1)

CCOG:

133128715(ostm1)

LOC:	102686111(ostm1)

PSPA:

121316296(ostm1)

ARUT:

117402520(ostm1)

PSEX:

120525524(ostm1)

LCM:	102360632(OSTM1)

CMK:	103178260(ostm1)

CPLA:

122548428(ostm1)

HOC:	132836922(ostm1)

LERI:

129696891(ostm1)

PMRN:

116955491(OSTM1)

LRJ:	133356933(OSTM1)

BFO:

BBEL:

CIN:

SCLV:

AJJ:

APLC:

ARUN:

AAMU:

AFIL:

SKO:

PFLL:

DME:	Dmel_CG14969(CG14969)

DER:

6546049

DSE:

6610626

DSI:	Dsimw501_GD29586(Dsim_GD29586)

DYA:	Dyak_GE20690

DAN:

DSR:

DPO:

DPE:

DMN:

DWI:

DGR:

DMO:	Dmoj_GI12788

DAZ:

DNV:

DHE:

DVI:

CCAT:

BOD:	106627392 106627417

BDR:	105227974 105227975

AOQ:

ALUD:

TDA:

MDE:

LCQ:

LSQ:

CVJ:

GFS:

ECOE:

CLON:

AGA:

ACOZ:

AARA:

AMER:

ASTE:

AMAP:

AFUN:

AMRS:

ACOS:

AAG:

AALB:

ASUA:

CQU:	CpipJ_CPIJ016093 CpipJ_CPIJ016094

CPII:

120416247 120416248 120416256

CBRI:

134829230

CNS:	116340287 116344457

BCOO:

LLL:

PPAP:

TCA:

TMOL:

DPA:

ESIM:

EFOR:

SOY:

AGRG:

ATD:

CSET:

HAXR:

AGB:

LDC:

NVL:

APLN:

PPYR:

OTU:

BMOR:

BMAN:

MSEX:

BANY:

MJU:

NIQ:

VCD:

MCIX:

PMAC:

PPOT:

PXU:

BPHI:

PRAP:

PBX:

PNAP:

ZCE:

CCRC:

LSIN:

AAGE:

HAW:	110375224 135116836

HZE:

TNL:

SLIU:

OFU:

ONU:

ATRA:

GMW:

PXY:

PGW:

LGLY:

CSTB:

CFEL:

CCRN:

API:

DNX:

AGS:

RMD:

ACOO:

DVT:

BTAB:

DCI:

CLEC:

HHAL:

NLU:

HVI:	124358123 124373743

MQU:

128986049

PHU:	Phum_PHUM263430

FOC:

TPAL:

ZNE:

CSEC:

PAME:

SGRE:

IEL:

HAMR:

FCD:

EAF:

LSM:

PPOI:

DSV:

RMP:

VDE:	111248232 111248234

VJA:

CSCU:

CVS:

PTEP:

ABRU:

UDV:

SDM:

LPOL:

CEL:	CELE_F42A8.3(cup-15)

CBR:

CBG_00871

CRQ:	GCK72_004350

LOA:	LOAG_07302

HRO:	HELRODRAFT_158885

LGI:	LOTGIDRAFT_166554

PVUL:

LSAX:

BGT:

GAE:

HRF:

HRJ:

HASI:

HCRA:

CRG:

CANU:

OED:	125674837 130052543

MYI:	110445013 110456487

PMAX:

AIRR:

MMER:

RPHI:

MAEA:

OBI:

OSN:

LJP:

LAK:

LLON:

NVE:

EPA:

ATEN:

AMIL:

MCAZ:

MFOO:

PDAM:

SPIS:

DGT:

XEN:

Reference

PMID:12627228

Authors

Chalhoub N, Benachenhou N, Rajapurohitam V, Pata M, Ferron M, Frattini A, Villa A, Vacher J

Title

Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human.

Journal

Nat Med 9:399-406 (2003)
DOI:10.1038/nm842

Sequence

[hsa:28962]

LinkDB

DBGET integrated database retrieval system