Homo sapiens (human): 1186
Help
Entry
1186 CDS
T01001
Symbol
CLCN7, CLC-7, CLC7, HOD, OPTA2, OPTB4, PPP1R63
Name
(RefSeq) H(+)/Cl(-) exchange transporter 7 isoform a
KO
K05016
chloride channel 7
Organism
hsa
Homo sapiens (human)
Pathway
hsa04142
Lysosome biogenesis
Network
nt06551
Lysosome
Element
N02030
Export of Cl- from Lysosome
Disease
H00436
Osteopetrosis
H03034
Hypopigmentation, organomegaly, and delayed myelination and development
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09140 Cellular Processes
09141 Transport and catabolism
04142 Lysosome biogenesis
1186 (CLCN7)
09180 Brite Hierarchies
09181 Protein families: metabolism
01009 Protein phosphatases and associated proteins [BR:
hsa01009
]
1186 (CLCN7)
09182 Protein families: genetic information processing
04131 Membrane trafficking [BR:
hsa04131
]
1186 (CLCN7)
09183 Protein families: signaling and cellular processes
04040 Ion channels [BR:
hsa04040
]
1186 (CLCN7)
Protein phosphatases and associated proteins [BR:
hsa01009
]
Protein serine/threonine phosphatases
Phosphoprotein phosphatases (PPPs)
Protein phosphatase-1
PP1-interacting proteins (PIPs)
1186 (CLCN7)
Membrane trafficking [BR:
hsa04131
]
Endosome - Lysosome transport
Others
Lysosomal membrane proteins
1186 (CLCN7)
Ion channels [BR:
hsa04040
]
Chloride channels
Chloride channel (CLC)
1186 (CLCN7)
SSDB
Ortholog
Paralog
GFIT
Motif
Pfam:
Voltage_CLC
CBS
ORF28
Motif
Other DBs
NCBI-GeneID:
1186
NCBI-ProteinID:
NP_001278
OMIM:
602727
HGNC:
2025
Ensembl:
ENSP00000372193.4
UniProt:
P51798
Structure
PDB
PDBj
LinkDB
All DBs
Position
16:complement(1444935..1475028)
Genome browser
AA seq
805 aa
AA seq
DB search
MANVSKKVSWSGRDRDDEEAAPLLRRTARPGGGTPLLNGAGPGAARQSPRSALFRVGHMS
SVELDDELLDPDMDPPHPFPKEIPHNEKLLSLKYESLDYDNSENQLFLEEERRINHTAFR
TVEIKRWVICALIGILTGLVACFIDIVVENLAGLKYRVIKGNIDKFTEKGGLSFSLLLWA
TLNAAFVLVGSVIVAFIEPVAAGSGIPQIKCFLNGVKIPHVVRLKTLVIKVSGVILSVVG
GLAVGKEGPMIHSGSVIAAGISQGRSTSLKRDFKIFEYFRRDTEKRDFVSAGAAAGVSAA
FGAPVGGVLFSLEEGASFWNQFLTWRIFFASMISTFTLNFVLSIYHGNMWDLSSPGLINF
GRFDSEKMAYTIHEIPVFIAMGVVGGVLGAVFNALNYWLTMFRIRYIHRPCLQVIEAVLV
AAVTATVAFVLIYSSRDCQPLQGGSMSYPLQLFCADGEYNSMAAAFFNTPEKSVVSLFHD
PPGSYNPLTLGLFTLVYFFLACWTYGLTVSAGVFIPSLLIGAAWGRLFGISLSYLTGAAI
WADPGKYALMGAAAQLGGIVRMTLSLTVIMMEATSNVTYGFPIMLVLMTAKIVGDVFIEG
LYDMHIQLQSVPFLHWEAPVTSHSLTAREVMSTPVTCLRRREKVGVIVDVLSDTASNHNG
FPVVEHADDTQPARLQGLILRSQLIVLLKHKVFVERSNLGLVQRRLRLKDFRDAYPRFPP
IQSIHVSQDERECTMDLSEFMNPSPYTVPQEASLPRVFKLFRALGLRHLVVVDNRNQVVG
LVTRKDLARYRLGKRGLEELSLAQT
NT seq
2418 nt
NT seq
+upstream
nt +downstream
nt
atggccaacgtctctaagaaggtgtcctggtccggccgggaccgggacgacgaggaggcg
gcgccgctgctgcggaggacggcgcggcccggcggggggacgccgctgctgaacggggct
gggcctggggctgcgcgccagtcaccacgttctgcgcttttccgagtcggacatatgagc
agcgtggagctggatgatgaacttttggacccggatatggaccctccacatcccttcccc
aaggagatcccacacaacgagaagctcctgtccctcaagtatgagagcttggactatgac
aacagtgagaaccagctgttcctggaggaggagcggcggatcaatcacacggccttccgg
acggtggagatcaagcgctgggtcatctgcgccctcattgggatcctcacgggcctcgtg
gcctgcttcattgacatcgtggtggaaaacctggctggcctcaagtacagggtcatcaag
ggcaatatcgacaagttcacagagaagggcggactgtccttctccctgttgctgtgggcc
acgctgaacgccgccttcgtgctcgtgggctctgtgattgtggctttcatagagccggtg
gctgctggcagcggaatcccccagatcaagtgcttcctcaacggggtgaagatcccccac
gtggtgcggctcaagacgttggtgatcaaagtgtccggtgtgatcctgtccgtggtcggg
ggcctggccgtgggaaaggaagggccgatgatccactcaggttcagtgattgccgccggg
atctctcagggaaggtcaacgtcactgaaacgagatttcaagatcttcgagtacttccgc
agagacacagagaagcgggacttcgtctccgcaggggctgcggccggagtgtcagcggcg
tttggagcccccgtgggtggggtcctgttcagcttggaggagggtgcgtccttctggaac
cagttcctgacctggaggatcttctttgcttccatgatctccacgttcaccctgaatttt
gttctgagcatttaccacgggaacatgtgggacctgtccagcccaggcctcatcaacttc
ggaaggtttgactcggagaaaatggcctacacgatccacgagatcccggtcttcatcgcc
atgggcgtggtgggcggtgtgcttggagcagtgttcaatgccttgaactactggctgacc
atgtttcgaatcaggtacatccaccggccctgcctgcaggtgattgaggccgtgctggtg
gccgccgtcacggccacagttgccttcgtgctgatctactcgtcgcgggattgccagccc
ctgcaggggggctccatgtcctacccgctgcagctcttttgtgcagatggcgagtacaac
tccatggctgcggccttcttcaacaccccggagaagagcgtggtgagcctcttccacgac
ccgccaggctcctacaaccccctgaccctcggcctgttcacgctggtctacttcttcctg
gcctgctggacctacgggctcacggtgtctgccggggtcttcatcccgtccctgctcatc
ggggctgcctggggccggctctttgggatctccctgtcctacctcacgggggcggcgatc
tgggcggaccccggcaaatacgccctgatgggagctgctgcccagctgggcgggattgtg
cggatgacactgagcctgaccgtcatcatgatggaggccaccagcaacgtgacctacggc
ttccccatcatgctggtgctcatgaccgccaagatcgtgggcgacgtcttcattgagggc
ctgtacgacatgcacattcagctgcagagtgtgcccttcctgcactgggaggccccggtc
acctcacactcactcactgccagggaggtgatgagcacaccagtgacctgcctgaggcgg
cgtgagaaggtcggcgtcattgtggacgtgctgagcgacacggcgtccaatcacaacggc
ttccccgtggtggagcatgccgatgacacccagcctgcccggctccagggcctgatcctg
cgctcccagctcatcgttctcctaaagcacaaggtgtttgtggagcggtccaacctgggc
ctggtacagcggcgcctgaggctgaaggacttccgagacgcctacccgcgcttcccaccc
atccagtccatccacgtgtcccaggacgagcgggagtgcaccatggacctctccgagttc
atgaacccctccccctacacggtgccccaggaggcgtcgctcccacgggtgttcaagctg
ttccgggccctgggcctgcggcacctggtggtggtggacaaccgcaatcaggttgtcggg
ttggtgaccaggaaggacctcgccaggtaccgcctgggaaagagaggcttggaggagctc
tcgctggcccagacgtga
Homo sapiens (human): 28962
Help
Entry
28962 CDS
T01001
Symbol
OSTM1, GIPN, GL, HSPC019, OPTB5
Name
(RefSeq) osteopetrosis-associated transmembrane protein 1 precursor
KO
K23863
osteopetrosis-associated transmembrane protein 1 (chloride channel 7 beta subunit)
Organism
hsa
Homo sapiens (human)
Pathway
hsa04142
Lysosome biogenesis
Network
nt06551
Lysosome
Element
N02030
Export of Cl- from Lysosome
Disease
H00436
Osteopetrosis
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09140 Cellular Processes
09141 Transport and catabolism
04142 Lysosome biogenesis
28962 (OSTM1)
09180 Brite Hierarchies
09182 Protein families: genetic information processing
04131 Membrane trafficking [BR:
hsa04131
]
28962 (OSTM1)
09183 Protein families: signaling and cellular processes
04040 Ion channels [BR:
hsa04040
]
28962 (OSTM1)
Membrane trafficking [BR:
hsa04131
]
Endosome - Lysosome transport
Others
Lysosomal membrane proteins
28962 (OSTM1)
Ion channels [BR:
hsa04040
]
Chloride channels
Chloride channel (CLC)
28962 (OSTM1)
SSDB
Ortholog
Paralog
GFIT
Motif
Pfam:
OSTMP1
BEGAIN_coil
Crust_neurohorm
Motif
Other DBs
NCBI-GeneID:
28962
NCBI-ProteinID:
NP_054747
OMIM:
607649
HGNC:
21652
Ensembl:
ENSP00000193322.3
UniProt:
Q86WC4
Structure
PDB
PDBj
LinkDB
All DBs
Position
6:complement(108041409..108074741)
Genome browser
AA seq
334 aa
AA seq
DB search
MEPGPTAAQRRCSLPPWLPLGLLLWSGLALGALPFGSSPHRVFHDLLSEQQLLEVEDLSL
SLLQGGGLGPLSLPPDLPDLDPECRELLLDFANSSAELTGCLVRSARPVRLCQTCYPLFQ
QVVSKMDNISRAAGNTSESQSCARSLLMADRMQIVVILSEFFNTTWQEANCANCLTNNSE
ELSNSTVYFLNLFNHTLTCFEHNLQGNAHSLLQTKNYSEVCKNCREAYKTLSSLYSEMQK
MNELENKAEPGTHLCIDVEDAMNITRKLWSRTFNCSVPCSDTVPVIAVSVFILFLPVVFY
LSSFLHSEQKKRKLILPKRLKSSTSFANIQENSN
NT seq
1005 nt
NT seq
+upstream
nt +downstream
nt
atggagccgggcccgacagccgcgcagcggaggtgttcgttgccgccgtggctgccgctg
gggctgctgctgtggtcggggctggccctgggcgcgctccccttcggcagcagtccgcac
agggtcttccacgacctcctgtcggagcagcagttgctggaggtggaggacttgtccctg
tccctcctgcagggtggagggctggggcctctgtcgctgcccccggacctgccggatctg
gatcctgagtgccgggagctcctgctggacttcgccaacagcagcgcagagctgacaggg
tgtctggtgcgcagcgcccggcccgtgcgcctctgtcagacctgctaccccctcttccaa
caggtcgtcagcaagatggacaacatcagccgagccgcggggaatacttcagagagtcag
agttgtgccagaagtctcttaatggcagatagaatgcaaatagttgtgattctctcagaa
ttttttaataccacatggcaggaggcaaattgtgcaaattgtttaacaaacaacagtgaa
gaattatcaaacagcacagtatatttccttaatctatttaatcacaccctgacctgcttt
gaacataaccttcaggggaatgcacatagtcttttacagacaaaaaattattcagaagta
tgcaaaaactgccgtgaagcatacaaaactctgagtagtctgtacagtgaaatgcaaaaa
atgaatgaacttgagaataaggctgaacctggaacacatttatgcattgatgtggaagat
gcaatgaacatcactcgaaaactatggagtcgaactttcaactgttcagtcccttgcagt
gacacagtgcctgtaattgctgtttctgtgttcattctctttctacctgttgtcttctac
cttagtagctttcttcactcagagcaaaagaaacgcaaactcattctgcccaaacgtctc
aagtccagtaccagttttgcaaatattcaggaaaattcaaactga
Homo sapiens (human): 256471
Help
Entry
256471 CDS
T01001
Symbol
MFSD8, CCMD, CLN7, SLC74A1
Name
(RefSeq) major facilitator superfamily domain-containing protein 8 isoform 1
KO
K12307
MFS transporter, DHA1 family, ceroid-lipofuscinosis neuronal protein 7
Organism
hsa
Homo sapiens (human)
Pathway
hsa04142
Lysosome biogenesis
Network
nt06551
Lysosome
Element
N02030
Export of Cl- from Lysosome
Disease
H00149
Neuronal ceroid lipofuscinosis
H01770
Macular dystrophy
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09140 Cellular Processes
09141 Transport and catabolism
04142 Lysosome biogenesis
256471 (MFSD8)
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
02000 Transporters [BR:
hsa02000
]
256471 (MFSD8)
Transporters [BR:
hsa02000
]
Major facilitator superfamily (MFS)
Drug transporters
Drug:H+ antiporter-1 (12 spanner) (DHA1) family [TC:
2.A.1.2
]
256471 (MFSD8)
SSDB
Ortholog
Paralog
GFIT
Motif
Pfam:
MFS_1
Sugar_tr
YLL006W-A
Motif
Other DBs
NCBI-GeneID:
256471
NCBI-ProteinID:
NP_001358525
OMIM:
611124
HGNC:
28486
Ensembl:
ENSP00000493218.2
UniProt:
Q8NHS3
LinkDB
All DBs
Position
4:complement(127917732..127965963)
Genome browser
AA seq
518 aa
AA seq
DB search
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSI
WPYLQKIDPTADTSFLGWVIASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCL
YAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGATSLQERTSSMANISMCQALGF
ILGPVFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDS
GRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAW
TQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQ
FPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTGCSIEQAWCLYTPVIHLAQFL
TSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWG
PRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE
NT seq
1557 nt
NT seq
+upstream
nt +downstream
nt
atggccggcctgcggaacgaaagtgaacaggagccgctcttaggcgacacacctggaagc
agagaatgggacattttagagactgaagagcattataagagccgatggagatctattagg
attttatatcttactatgtttctcagcagtgtagggttttctgtagtgatgatgtccata
tggccatatctccaaaagattgatccgacagctgatacaagttttttgggctgggttatt
gcttcatatagtcttggccaaatggtagcttcacctatatttggtttatggtctaattat
agaccaagaaaagagcctcttattgtctccatcttgatttccgtggcagccaactgcctc
tatgcatatctccacatcccagcttctcataataaatactacatgctggttgctcgtgga
ttgttgggaattggagcaggaaatgtagcagttgttagatcatatactgctggtgctact
tcccttcaggaaagaacaagttccatggcaaacataagcatgtgtcaagcattaggtttt
attctaggtccagtttttcagacttgttttacattccttggagaaaaaggtgtgacatgg
gatgtgattaaactgcagataaacatgtatacaacaccagttttacttagcgccttcctg
ggaattttaaatattattctgatccttgccatactaagagaacatcgtgtggatgactca
ggaagacagtgtaaaagtattaattttgaagaagcaagtacagatgaagctcaggttccc
caaggaaatattgaccaggttgctgttgtggccatcaatgttctgttttttgtgactcta
tttatctttgccctttttgaaaccatcattactccattaacaatggatatgtatgcctgg
actcaagaacaagctgtgttatataatggcataatacttgctgctcttggggttgaagcc
gttgttattttcttaggagttaagttgctttccaaaaagattggcgagcgtgctattcta
ctgggaggactcatcgttgtatgggttggcttctttatcttgttaccttggggaaatcaa
tttcccaaaatacagtgggaagatttgcacaataattcaatccctaataccacatttggg
gaaattattattggtctttggaagtctccaatggaagatgacaatgaaagaccaactggt
tgctcgattgaacaagcctggtgcctctacaccccggtgattcatctggcccagttcctt
acatcagctgtgctaataggattaggctatccagtctgcaatcttatgtcctatactcta
tattcaaaaattctaggaccaaaacctcagggtgtatacatgggctggttaacagcatct
ggaagtggagcccggattcttgggcctatgttcatcagccaagtgtatgctcactgggga
ccacgatgggcattcagcctggtgtgtggaataatagtgctcaccatcaccctcctggga
gtggtttacaaaagactcattgctctttctgtaagatatgggaggattcaggaataa
DBGET
integrated database retrieval system
