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P51798

- CLCN7_HUMAN

UniProt

P51798 - CLCN7_HUMAN

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Protein
H(+)/Cl(-) exchange transporter 7
Gene
CLCN7
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen.2 Publications

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei204 – 2041Chloride By similarity
Sitei247 – 2471Mediates proton transfer from the outer aqueous phase to the interior of the protein; involved in linking H(+) and Cl(-) transport By similarity
Sitei314 – 3141Mediates proton transfer from the protein to the inner aqueous phase By similarity
Binding sitei514 – 5141Chloride; via amide nitrogen By similarity
Binding sitei602 – 6021Chloride By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi658 – 6603ATP By similarity
Nucleotide bindingi783 – 7864ATP By similarity

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. antiporter activity Source: UniProtKB-KW
  3. chloride channel activity Source: ProtInc
  4. voltage-gated chloride channel activity Source: InterPro

GO - Biological processi

  1. chloride transmembrane transport Source: GOC
  2. ion transmembrane transport Source: Reactome
  3. response to pH Source: Ensembl
  4. transmembrane transport Source: Reactome
  5. transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Antiport, Ion transport, Transport

Keywords - Ligandi

ATP-binding, Chloride, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_160189. Stimuli-sensing channels.

Protein family/group databases

TCDBi2.A.49.3.3. the chloride carrier/channel (clc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
H(+)/Cl(-) exchange transporter 7
Alternative name(s):
Chloride channel 7 alpha subunit
Chloride channel protein 7
Short name:
ClC-7
Gene namesi
Name:CLCN7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:2025. CLCN7.

Subcellular locationi

Lysosome membrane; Multi-pass membrane protein 3 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 126126Cytoplasmic By similarity
Add
BLAST
Transmembranei127 – 15933Helical; By similarity
Add
BLAST
Transmembranei174 – 19724Helical; By similarity
Add
BLAST
Intramembranei206 – 2138Helical; By similarity
Transmembranei223 – 24119Helical; By similarity
Add
BLAST
Transmembranei247 – 26418Helical; By similarity
Add
BLAST
Intramembranei288 – 30013Helical; By similarity
Add
BLAST
Intramembranei304 – 3129Helical; By similarity
Transmembranei322 – 34120Helical; By similarity
Add
BLAST
Transmembranei375 – 40531Helical; By similarity
Add
BLAST
Transmembranei410 – 43223Helical; By similarity
Add
BLAST
Transmembranei487 – 50721Helical; By similarity
Add
BLAST
Transmembranei512 – 53524Helical; By similarity
Add
BLAST
Intramembranei545 – 55915Helical; By similarity
Add
BLAST
Intramembranei560 – 5623Note=Loop between two helices; By similarity
Intramembranei563 – 57412Helical; By similarity
Add
BLAST
Intramembranei575 – 5784Note=Loop between two helices; By similarity
Transmembranei579 – 59719Helical; By similarity
Add
BLAST
Topological domaini598 – 805208Cytoplasmic By similarity
Add
BLAST

GO - Cellular componenti

  1. cytoplasmic vesicle Source: Ensembl
  2. integral component of membrane Source: UniProtKB-KW
  3. lysosomal membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves.
Note: The disease is caused by mutations affecting the gene represented in this entry.5 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti132 – 1321L → P in OPTB4. 1 Publication
VAR_064637
Natural varianti214 – 2141N → S in OPTB4. 1 Publication
VAR_064638
Natural varianti227 – 2271Missing in OPTB4. 1 Publication
VAR_064639
Natural varianti240 – 2401G → R in OPTB4. 2 Publications
VAR_020998
Natural varianti249 – 2491P → R in OPTB4. 1 Publication
VAR_020999
Natural varianti261 – 2611I → F in OPTB4. 1 Publication
VAR_037427
Natural varianti332 – 3321M → V in OPTB4. 1 Publication
VAR_021001
Natural varianti403 – 4031R → Q in OPTB4. 1 Publication
VAR_064641
Natural varianti521 – 5211G → R in OPTB4. 1 Publication
VAR_064642
Natural varianti526 – 5261R → Q in OPTB4. 1 Publication
VAR_064643
Natural varianti526 – 5261R → W in OPTB4. 2 Publications
VAR_021004
Natural varianti549 – 5491L → P in OPTB4. 1 Publication
VAR_064644
Natural varianti614 – 6141L → P in OPTB4. 1 Publication
VAR_021005
Natural varianti651 – 6511L → P in OPTB4. 1 Publication
VAR_064645
Natural varianti744 – 7441S → F in OPTB4. 1 Publication
VAR_021007
Natural varianti762 – 7621R → Q in OPTA2 and OPTB4; not detected in the fibroblasts from the patient. 2 Publications
VAR_017838
Natural varianti762 – 7621R → W in OPTB4. 1 Publication
VAR_064647
Natural varianti766 – 7661L → P in OPTB4. 1 Publication
VAR_017839
Natural varianti767 – 7671R → P in OPTB4. 1 Publication
VAR_064648
Natural varianti767 – 7671R → Q in OPTB4. 1 Publication
VAR_021008
Natural varianti767 – 7671R → W in OPTA2 and OPTB4. 3 Publications
VAR_017840
Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. It is characterized by sclerosis, predominantly involving the spine, the pelvis and the skull base.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti215 – 2151G → R in OPTA2. 2 Publications
VAR_020997
Natural varianti286 – 2861R → Q in OPTA2. 2 Publications
VAR_021000
Natural varianti318 – 3181F → L in OPTA2. 1 Publication
VAR_064640
Natural varianti490 – 4901L → F in OPTA2. 1 Publication
VAR_021003
Natural varianti677 – 6771G → V in OPTA2. 1 Publication
VAR_021006
Natural varianti758 – 7581F → L in OPTA2. 1 Publication
VAR_064646
Natural varianti762 – 7621R → Q in OPTA2 and OPTB4; not detected in the fibroblasts from the patient. 2 Publications
VAR_017838
Natural varianti767 – 7671R → W in OPTA2 and OPTB4. 3 Publications
VAR_017840

Keywords - Diseasei

Disease mutation, Osteopetrosis

Organism-specific databases

MIMi166600. phenotype.
611490. phenotype.
Orphaneti53. Albers-Schonberg osteopetrosis.
667. Autosomal recessive malignant osteopetrosis.
210110. Intermediate osteopetrosis.
PharmGKBiPA26552.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 805805H(+)/Cl(-) exchange transporter 7
PRO_0000094452Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei9 – 91Phosphoserine By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP51798.
PaxDbiP51798.
PRIDEiP51798.

PTM databases

PhosphoSiteiP51798.

Expressioni

Tissue specificityi

Brain, testis, muscle and kidney.

Gene expression databases

ArrayExpressiP51798.
BgeeiP51798.
CleanExiHS_CLCN7.
GenevestigatoriP51798.

Organism-specific databases

HPAiHPA043019.
HPA043586.

Interactioni

Subunit structurei

Chloride channel 7 are heteromers of alpha (CLCN7) and beta (OSTM1) subunits.1 Publication

Protein-protein interaction databases

BioGridi107600. 1 interaction.
IntActiP51798. 3 interactions.
MINTiMINT-3019199.
STRINGi9606.ENSP00000404772.

Structurei

3D structure databases

ProteinModelPortaliP51798.
SMRiP51798. Positions 129-687, 745-789.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini631 – 69565CBS 1
Add
BLAST
Domaini741 – 79959CBS 2
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi203 – 2075Selectivity filter part_1 By similarity
Motifi245 – 2495Selectivity filter part_2 By similarity
Motifi512 – 5165Selectivity filter part_3 By similarity

Sequence similaritiesi

Contains 2 CBS domains.

Keywords - Domaini

CBS domain, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0038.
HOGENOMiHOG000231081.
HOVERGENiHBG050985.
KOiK05016.
OrthoDBiEOG77Q4W6.
PhylomeDBiP51798.
TreeFamiTF313867.

Family and domain databases

Gene3Di1.10.3080.10. 2 hits.
InterProiIPR000644. CBS_dom.
IPR014743. Cl-channel_core.
IPR001807. Cl-channel_volt-gated.
IPR002249. Cl_channel-7.
[Graphical view]
PfamiPF00571. CBS. 2 hits.
PF00654. Voltage_CLC. 1 hit.
[Graphical view]
PRINTSiPR00762. CLCHANNEL.
PR01118. CLCHANNEL7.
SMARTiSM00116. CBS. 2 hits.
[Graphical view]
SUPFAMiSSF81340. SSF81340. 2 hits.
PROSITEiPS51371. CBS. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P51798-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MANVSKKVSW SGRDRDDEEA APLLRRTARP GGGTPLLNGA GPGAARQSPR    50
SALFRVGHMS SVELDDELLD PDMDPPHPFP KEIPHNEKLL SLKYESLDYD 100
NSENQLFLEE ERRINHTAFR TVEIKRWVIC ALIGILTGLV ACFIDIVVEN 150
LAGLKYRVIK GNIDKFTEKG GLSFSLLLWA TLNAAFVLVG SVIVAFIEPV 200
AAGSGIPQIK CFLNGVKIPH VVRLKTLVIK VSGVILSVVG GLAVGKEGPM 250
IHSGSVIAAG ISQGRSTSLK RDFKIFEYFR RDTEKRDFVS AGAAAGVSAA 300
FGAPVGGVLF SLEEGASFWN QFLTWRIFFA SMISTFTLNF VLSIYHGNMW 350
DLSSPGLINF GRFDSEKMAY TIHEIPVFIA MGVVGGVLGA VFNALNYWLT 400
MFRIRYIHRP CLQVIEAVLV AAVTATVAFV LIYSSRDCQP LQGGSMSYPL 450
QLFCADGEYN SMAAAFFNTP EKSVVSLFHD PPGSYNPLTL GLFTLVYFFL 500
ACWTYGLTVS AGVFIPSLLI GAAWGRLFGI SLSYLTGAAI WADPGKYALM 550
GAAAQLGGIV RMTLSLTVIM MEATSNVTYG FPIMLVLMTA KIVGDVFIEG 600
LYDMHIQLQS VPFLHWEAPV TSHSLTAREV MSTPVTCLRR REKVGVIVDV 650
LSDTASNHNG FPVVEHADDT QPARLQGLIL RSQLIVLLKH KVFVERSNLG 700
LVQRRLRLKD FRDAYPRFPP IQSIHVSQDE RECTMDLSEF MNPSPYTVPQ 750
EASLPRVFKL FRALGLRHLV VVDNRNQVVG LVTRKDLARY RLGKRGLEEL 800
SLAQT 805
Length:805
Mass (Da):88,679
Last modified:January 11, 2001 - v2
Checksum:iE56BC0B4ADE1C695
GO
Isoform 2 (identifier: P51798-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     48-71: Missing.

Note: No experimental confirmation available.

Show »
Length:781
Mass (Da):86,026
Checksum:i21BA4E8E144A260C
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti132 – 1321L → P in OPTB4. 1 Publication
VAR_064637
Natural varianti214 – 2141N → S in OPTB4. 1 Publication
VAR_064638
Natural varianti215 – 2151G → R in OPTA2. 2 Publications
VAR_020997
Natural varianti227 – 2271Missing in OPTB4. 1 Publication
VAR_064639
Natural varianti240 – 2401G → R in OPTB4. 2 Publications
VAR_020998
Natural varianti249 – 2491P → R in OPTB4. 1 Publication
VAR_020999
Natural varianti261 – 2611I → F in OPTB4. 1 Publication
VAR_037427
Natural varianti286 – 2861R → Q in OPTA2. 2 Publications
VAR_021000
Natural varianti318 – 3181F → L in OPTA2. 1 Publication
VAR_064640
Natural varianti332 – 3321M → V in OPTB4. 1 Publication
VAR_021001
Natural varianti403 – 4031R → Q in OPTB4. 1 Publication
VAR_064641
Natural varianti418 – 4181V → M.1 Publication
Corresponds to variant rs12926089 [ dbSNP | Ensembl ].
VAR_021002
Natural varianti490 – 4901L → F in OPTA2. 1 Publication
VAR_021003
Natural varianti521 – 5211G → R in OPTB4. 1 Publication
VAR_064642
Natural varianti526 – 5261R → Q in OPTB4. 1 Publication
VAR_064643
Natural varianti526 – 5261R → W in OPTB4. 2 Publications
VAR_021004
Natural varianti549 – 5491L → P in OPTB4. 1 Publication
VAR_064644
Natural varianti614 – 6141L → P in OPTB4. 1 Publication
VAR_021005
Natural varianti651 – 6511L → P in OPTB4. 1 Publication
VAR_064645
Natural varianti677 – 6771G → V in OPTA2. 1 Publication
VAR_021006
Natural varianti744 – 7441S → F in OPTB4. 1 Publication
VAR_021007
Natural varianti758 – 7581F → L in OPTA2. 1 Publication
VAR_064646
Natural varianti762 – 7621R → Q in OPTA2 and OPTB4; not detected in the fibroblasts from the patient. 2 Publications
VAR_017838
Natural varianti762 – 7621R → W in OPTB4. 1 Publication
VAR_064647
Natural varianti766 – 7661L → P in OPTB4. 1 Publication
VAR_017839
Natural varianti767 – 7671R → P in OPTB4. 1 Publication
VAR_064648
Natural varianti767 – 7671R → Q in OPTB4. 1 Publication
VAR_021008
Natural varianti767 – 7671R → W in OPTA2 and OPTB4. 3 Publications
VAR_017840

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei48 – 7124Missing in isoform 2.
VSP_045698Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti74 – 741D → V in BAF84825. 1 Publication
Sequence conflicti267 – 2671T → S in CAA91556. 1 Publication
Sequence conflicti279 – 2791F → L in CAA91556. 1 Publication
Sequence conflicti279 – 2791F → L in CAA05083. 1 Publication
Sequence conflicti324 – 3241T → A in BAF84825. 1 Publication
Sequence conflicti348 – 3481N → S in BAG51745. 1 Publication
Sequence conflicti415 – 4151I → V in BAG51745. 1 Publication
Sequence conflicti710 – 7101D → G in BAG51745. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF224741 mRNA. Translation: AAF34711.1.
AK056551 mRNA. Translation: BAG51745.1.
AK291404 mRNA. Translation: BAF84093.1.
AK292136 mRNA. Translation: BAF84825.1.
AL031600 Genomic DNA. No translation available.
AL031705 Genomic DNA. No translation available.
BC012737 mRNA. Translation: AAH12737.1.
Z67743 mRNA. Translation: CAA91556.1.
AJ001910 Genomic DNA. Translation: CAA05083.1.
U88844 mRNA. Translation: AAB48530.1.
CCDSiCCDS32361.1. [P51798-1]
CCDS45378.1. [P51798-2]
PIRiS68427.
RefSeqiNP_001107803.1. NM_001114331.2. [P51798-2]
NP_001278.1. NM_001287.5. [P51798-1]
UniGeneiHs.459649.

Genome annotation databases

EnsembliENST00000382745; ENSP00000372193; ENSG00000103249. [P51798-1]
ENST00000448525; ENSP00000410907; ENSG00000103249. [P51798-2]
GeneIDi1186.
KEGGihsa:1186.
UCSCiuc002clv.3. human. [P51798-1]

Polymorphism databases

DMDMi12644301.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF224741 mRNA. Translation: AAF34711.1 .
AK056551 mRNA. Translation: BAG51745.1 .
AK291404 mRNA. Translation: BAF84093.1 .
AK292136 mRNA. Translation: BAF84825.1 .
AL031600 Genomic DNA. No translation available.
AL031705 Genomic DNA. No translation available.
BC012737 mRNA. Translation: AAH12737.1 .
Z67743 mRNA. Translation: CAA91556.1 .
AJ001910 Genomic DNA. Translation: CAA05083.1 .
U88844 mRNA. Translation: AAB48530.1 .
CCDSi CCDS32361.1. [P51798-1 ]
CCDS45378.1. [P51798-2 ]
PIRi S68427.
RefSeqi NP_001107803.1. NM_001114331.2. [P51798-2 ]
NP_001278.1. NM_001287.5. [P51798-1 ]
UniGenei Hs.459649.

3D structure databases

ProteinModelPortali P51798.
SMRi P51798. Positions 129-687, 745-789.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107600. 1 interaction.
IntActi P51798. 3 interactions.
MINTi MINT-3019199.
STRINGi 9606.ENSP00000404772.

Chemistry

GuidetoPHARMACOLOGYi 706.

Protein family/group databases

TCDBi 2.A.49.3.3. the chloride carrier/channel (clc) family.

PTM databases

PhosphoSitei P51798.

Polymorphism databases

DMDMi 12644301.

Proteomic databases

MaxQBi P51798.
PaxDbi P51798.
PRIDEi P51798.

Protocols and materials databases

DNASUi 1186.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000382745 ; ENSP00000372193 ; ENSG00000103249 . [P51798-1 ]
ENST00000448525 ; ENSP00000410907 ; ENSG00000103249 . [P51798-2 ]
GeneIDi 1186.
KEGGi hsa:1186.
UCSCi uc002clv.3. human. [P51798-1 ]

Organism-specific databases

CTDi 1186.
GeneCardsi GC16M001494.
GeneReviewsi CLCN7.
HGNCi HGNC:2025. CLCN7.
HPAi HPA043019.
HPA043586.
MIMi 166600. phenotype.
602727. gene.
611490. phenotype.
neXtProti NX_P51798.
Orphaneti 53. Albers-Schonberg osteopetrosis.
667. Autosomal recessive malignant osteopetrosis.
210110. Intermediate osteopetrosis.
PharmGKBi PA26552.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0038.
HOGENOMi HOG000231081.
HOVERGENi HBG050985.
KOi K05016.
OrthoDBi EOG77Q4W6.
PhylomeDBi P51798.
TreeFami TF313867.

Enzyme and pathway databases

Reactomei REACT_160189. Stimuli-sensing channels.

Miscellaneous databases

ChiTaRSi CLCN7. human.
GeneWikii CLCN7.
GenomeRNAii 1186.
NextBioi 35464476.
PROi P51798.
SOURCEi Search...

Gene expression databases

ArrayExpressi P51798.
Bgeei P51798.
CleanExi HS_CLCN7.
Genevestigatori P51798.

Family and domain databases

Gene3Di 1.10.3080.10. 2 hits.
InterProi IPR000644. CBS_dom.
IPR014743. Cl-channel_core.
IPR001807. Cl-channel_volt-gated.
IPR002249. Cl_channel-7.
[Graphical view ]
Pfami PF00571. CBS. 2 hits.
PF00654. Voltage_CLC. 1 hit.
[Graphical view ]
PRINTSi PR00762. CLCHANNEL.
PR01118. CLCHANNEL7.
SMARTi SM00116. CBS. 2 hits.
[Graphical view ]
SUPFAMi SSF81340. SSF81340. 2 hits.
PROSITEi PS51371. CBS. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Ion channels in lens epithelia."
    Rae J.L.
    Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Lens epithelium.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Brain and Synovium.
  3. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Skin.
  5. "ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family."
    Brandt S., Jentsch T.J.
    FEBS Lett. 377:15-20(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 17-805 (ISOFORM 1).
    Tissue: Brain.
  6. "The exon-intron architecture of human chloride channel genes is not conserved."
    Eggermont J.
    Biochim. Biophys. Acta 1397:156-160(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 275-432.
  7. Schutte B.C., Malik M.I., Fingert J., Stone E., Lamb F.S.
    Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 744-805 (ISOFORM 1).
    Tissue: Mammary gland.
  8. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
    Tissue: Placenta.
  10. "The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomes."
    Graves A.R., Curran P.K., Smith C.L., Mindell J.A.
    Nature 453:788-792(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.
  11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  12. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  13. "ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity."
    Leisle L., Ludwig C.F., Wagner F.A., Jentsch T.J., Stauber T.
    EMBO J. 30:2140-2152(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBUNIT, INTERACTION WITH OSTM1, SUBCELLULAR LOCATION.
  14. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  15. "Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man."
    Kornak U., Kasper D., Boesl M.R., Kaiser E., Schweizer M., Schulz A., Friedrich W., Delling G., Jentsch T.J.
    Cell 104:205-215(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT OPTB4 GLN-762.
  16. "Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene."
    Cleiren E., Benichou O., Van Hul E., Gram J., Bollerslav J., Singer F.R., Beaverson K., Aledo A., Whyte M.P., Yoneyama T., de Vernejoul M.-C., Van Hul W.
    Hum. Mol. Genet. 10:2861-2867(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT OPTB4 PRO-766, VARIANT OPTA2 TRP-767.
  17. Cited for: VARIANTS OPTB4 ARG-240; ARG-249; VAL-332; TRP-526; PRO-614; PHE-744; GLN-767 AND TRP-767, VARIANTS OPTA2 ARG-215; GLN-286; PHE-490 AND VAL-677, VARIANT MET-418.
  18. "DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity."
    Lam C.-W., Tong S.-F., Wong K., Luo Y.F., Tang H.-Y., Ha S.-Y., Chan M.H.-M.
    J. Hum. Genet. 52:98-101(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT OPTB4 PHE-261.
  19. Cited for: VARIANTS OPTB4 PRO-132; SER-214; LEU-227 DEL; ARG-240; GLN-403; ARG-521; GLN-526; TRP-526; PRO-549; PRO-651; TRP-762 AND PRO-767, VARIANTS OPTA2 ARG-215; GLN-286; LEU-318; LEU-758; GLN-762 AND TRP-767.

Entry informationi

Entry nameiCLCN7_HUMAN
AccessioniPrimary (citable) accession number: P51798
Secondary accession number(s): A6NEJ7
, A8K5T9, A8K7X1, B3KPN3, E9PDB9, Q9NYX5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: January 11, 2001
Last modified: September 3, 2014
This is version 154 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The presence of conserved gating glutamate residues is typical for family members that function as antiporters By similarity.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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