Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

H(+)/Cl(-) exchange transporter 7

Gene

CLCN7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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)DescriptionActionsGraphical viewLength
Binding sitei204ChlorideBy similarity1
Sitei247Mediates proton transfer from the outer aqueous phase to the interior of the protein; involved in linking H(+) and Cl(-) transportBy similarity1
Sitei314Mediates proton transfer from the protein to the inner aqueous phaseBy similarity1
Binding sitei514Chloride; via amide nitrogenBy similarity1
Binding sitei602ChlorideBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi658 – 660ATPBy similarity3
Nucleotide bindingi783 – 786ATPBy similarity4

GO - Molecular functioni

GO - Biological processi

  • ion transmembrane transport Source: Reactome
  • response to pH Source: Ensembl
  • transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Antiport, Ion transport, Transport

Keywords - Ligandi

ATP-binding, Chloride, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000103249-MONOMER.
ReactomeiR-HSA-2672351. 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
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:2025. CLCN7.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 126CytoplasmicBy similarityAdd BLAST126
Transmembranei127 – 159HelicalBy similarityAdd BLAST33
Transmembranei174 – 197HelicalBy similarityAdd BLAST24
Intramembranei206 – 213HelicalBy similarity8
Transmembranei223 – 241HelicalBy similarityAdd BLAST19
Transmembranei247 – 264HelicalBy similarityAdd BLAST18
Intramembranei288 – 300HelicalBy similarityAdd BLAST13
Intramembranei304 – 312HelicalBy similarity9
Transmembranei322 – 341HelicalBy similarityAdd BLAST20
Transmembranei375 – 405HelicalBy similarityAdd BLAST31
Transmembranei410 – 432HelicalBy similarityAdd BLAST23
Transmembranei487 – 507HelicalBy similarityAdd BLAST21
Transmembranei512 – 535HelicalBy similarityAdd BLAST24
Intramembranei545 – 559HelicalBy similarityAdd BLAST15
Intramembranei560 – 562Note=Loop between two helicesBy similarity3
Intramembranei563 – 574HelicalBy similarityAdd BLAST12
Intramembranei575 – 578Note=Loop between two helicesBy similarity4
Transmembranei579 – 597HelicalBy similarityAdd BLAST19
Topological domaini598 – 805CytoplasmicBy similarityAdd BLAST208

GO - Cellular componenti

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

Keywords - Cellular componenti

Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Osteopetrosis, autosomal recessive 4 (OPTB4)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:611490
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064637132L → P in OPTB4. 1 Publication1
Natural variantiVAR_064638214N → S in OPTB4. 1 PublicationCorresponds to variant rs367567630dbSNPEnsembl.1
Natural variantiVAR_064639227Missing in OPTB4. 1 Publication1
Natural variantiVAR_020998240G → R in OPTB4. 2 Publications1
Natural variantiVAR_020999249P → R in OPTB4. 1 Publication1
Natural variantiVAR_037427261I → F in OPTB4. 1 PublicationCorresponds to variant rs121434436dbSNPEnsembl.1
Natural variantiVAR_075580299A → V in OPTB4; unknown pathological significance. 1 Publication1
Natural variantiVAR_021001332M → V in OPTB4. 1 Publication1
Natural variantiVAR_064641403R → Q in OPTB4. 1 PublicationCorresponds to variant rs765444328dbSNPEnsembl.1
Natural variantiVAR_064642521G → R in OPTB4. 1 PublicationCorresponds to variant rs368190250dbSNPEnsembl.1
Natural variantiVAR_064643526R → Q in OPTB4. 1 PublicationCorresponds to variant rs139329533dbSNPEnsembl.1
Natural variantiVAR_021004526R → W in OPTB4. 2 Publications1
Natural variantiVAR_064644549L → P in OPTB4. 1 Publication1
Natural variantiVAR_021005614L → P in OPTB4. 1 Publication1
Natural variantiVAR_064645651L → P in OPTB4. 1 Publication1
Natural variantiVAR_021007744S → F in OPTB4. 1 Publication1
Natural variantiVAR_017838762R → Q in OPTA2 and OPTB4; not detected in the fibroblasts from the patient. 2 PublicationsCorresponds to variant rs121434433dbSNPEnsembl.1
Natural variantiVAR_064647762R → W in OPTB4. 1 Publication1
Natural variantiVAR_017839766L → P in OPTB4. 1 PublicationCorresponds to variant rs121434434dbSNPEnsembl.1
Natural variantiVAR_064648767R → P in OPTB4. 1 Publication1
Natural variantiVAR_021008767R → Q in OPTB4. 1 PublicationCorresponds to variant rs772579858dbSNPEnsembl.1
Natural variantiVAR_017840767R → W in OPTA2 and OPTB4. 4 PublicationsCorresponds to variant rs121434435dbSNPEnsembl.1
Osteopetrosis, autosomal dominant 2 (OPTA2)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:166600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075576213L → F in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_020997215G → R in OPTA2. 2 PublicationsCorresponds to variant rs397515539dbSNPEnsembl.1
Natural variantiVAR_021000286R → Q in OPTA2. 2 PublicationsCorresponds to variant rs760956030dbSNPEnsembl.1
Natural variantiVAR_075578286R → W in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_075579290S → Y in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_064640318F → L in OPTA2. 1 Publication1
Natural variantiVAR_075581326R → G in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_075582347G → R in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_075583473S → N in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_021003490L → F in OPTA2. 1 Publication1
Natural variantiVAR_075584564L → P in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_021006677G → V in OPTA2. 1 Publication1
Natural variantiVAR_064646758F → L in OPTA2. 1 PublicationCorresponds to variant rs760740877dbSNPEnsembl.1
Natural variantiVAR_017838762R → Q in OPTA2 and OPTB4; not detected in the fibroblasts from the patient. 2 PublicationsCorresponds to variant rs121434433dbSNPEnsembl.1
Natural variantiVAR_017840767R → W in OPTA2 and OPTB4. 4 PublicationsCorresponds to variant rs121434435dbSNPEnsembl.1
Osteopetrosis, autosomal recessive 2 (OPTB2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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. OPTB2 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development.
See also OMIM:259710
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075577224L → R in OPTB2; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation, Osteopetrosis

Organism-specific databases

DisGeNETi1186.
MalaCardsiCLCN7.
MIMi166600. phenotype.
259710. phenotype.
611490. phenotype.
OpenTargetsiENSG00000103249.
Orphaneti53. Albers-Schonberg osteopetrosis.
667. Autosomal recessive malignant osteopetrosis.
210110. Intermediate osteopetrosis.
PharmGKBiPA26552.

Chemistry databases

GuidetoPHARMACOLOGYi706.

Polymorphism and mutation databases

BioMutaiCLCN7.
DMDMi12644301.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000944521 – 805H(+)/Cl(-) exchange transporter 7Add BLAST805

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei9PhosphoserineBy similarity1
Modified residuei60PhosphoserineCombined sources1
Modified residuei801PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP51798.
MaxQBiP51798.
PaxDbiP51798.
PeptideAtlasiP51798.
PRIDEiP51798.

PTM databases

iPTMnetiP51798.
PhosphoSitePlusiP51798.

Expressioni

Tissue specificityi

Brain, testis, muscle and kidney.

Gene expression databases

BgeeiENSG00000103249.
CleanExiHS_CLCN7.
ExpressionAtlasiP51798. baseline and differential.
GenevisibleiP51798. HS.

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. 34 interactors.
IntActiP51798. 29 interactors.
MINTiMINT-3019199.
STRINGi9606.ENSP00000372193.

Structurei

3D structure databases

ProteinModelPortaliP51798.
SMRiP51798.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini631 – 695CBS 1PROSITE-ProRule annotationAdd BLAST65
Domaini741 – 799CBS 2PROSITE-ProRule annotationAdd BLAST59

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi203 – 207Selectivity filter part_1By similarity5
Motifi245 – 249Selectivity filter part_2By similarity5
Motifi512 – 516Selectivity filter part_3By similarity5

Sequence similaritiesi

Contains 2 CBS domains.PROSITE-ProRule annotation

Keywords - Domaini

CBS domain, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0474. Eukaryota.
COG0038. LUCA.
GeneTreeiENSGT00760000119109.
HOGENOMiHOG000231081.
HOVERGENiHBG050985.
InParanoidiP51798.
KOiK05016.
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. AlignAdd to basket

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

        10         20         30         40         50
MANVSKKVSW SGRDRDDEEA APLLRRTARP GGGTPLLNGA GPGAARQSPR
60 70 80 90 100
SALFRVGHMS SVELDDELLD PDMDPPHPFP KEIPHNEKLL SLKYESLDYD
110 120 130 140 150
NSENQLFLEE ERRINHTAFR TVEIKRWVIC ALIGILTGLV ACFIDIVVEN
160 170 180 190 200
LAGLKYRVIK GNIDKFTEKG GLSFSLLLWA TLNAAFVLVG SVIVAFIEPV
210 220 230 240 250
AAGSGIPQIK CFLNGVKIPH VVRLKTLVIK VSGVILSVVG GLAVGKEGPM
260 270 280 290 300
IHSGSVIAAG ISQGRSTSLK RDFKIFEYFR RDTEKRDFVS AGAAAGVSAA
310 320 330 340 350
FGAPVGGVLF SLEEGASFWN QFLTWRIFFA SMISTFTLNF VLSIYHGNMW
360 370 380 390 400
DLSSPGLINF GRFDSEKMAY TIHEIPVFIA MGVVGGVLGA VFNALNYWLT
410 420 430 440 450
MFRIRYIHRP CLQVIEAVLV AAVTATVAFV LIYSSRDCQP LQGGSMSYPL
460 470 480 490 500
QLFCADGEYN SMAAAFFNTP EKSVVSLFHD PPGSYNPLTL GLFTLVYFFL
510 520 530 540 550
ACWTYGLTVS AGVFIPSLLI GAAWGRLFGI SLSYLTGAAI WADPGKYALM
560 570 580 590 600
GAAAQLGGIV RMTLSLTVIM MEATSNVTYG FPIMLVLMTA KIVGDVFIEG
610 620 630 640 650
LYDMHIQLQS VPFLHWEAPV TSHSLTAREV MSTPVTCLRR REKVGVIVDV
660 670 680 690 700
LSDTASNHNG FPVVEHADDT QPARLQGLIL RSQLIVLLKH KVFVERSNLG
710 720 730 740 750
LVQRRLRLKD FRDAYPRFPP IQSIHVSQDE RECTMDLSEF MNPSPYTVPQ
760 770 780 790 800
EASLPRVFKL FRALGLRHLV VVDNRNQVVG LVTRKDLARY RLGKRGLEEL

SLAQT
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti74D → V in BAF84825 (PubMed:14702039).Curated1
Sequence conflicti267T → S in CAA91556 (PubMed:8543009).Curated1
Sequence conflicti279F → L in CAA91556 (PubMed:8543009).Curated1
Sequence conflicti279F → L in CAA05083 (PubMed:9565675).Curated1
Sequence conflicti324T → A in BAF84825 (PubMed:14702039).Curated1
Sequence conflicti348N → S in BAG51745 (PubMed:14702039).Curated1
Sequence conflicti415I → V in BAG51745 (PubMed:14702039).Curated1
Sequence conflicti710D → G in BAG51745 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064637132L → P in OPTB4. 1 Publication1
Natural variantiVAR_075576213L → F in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_064638214N → S in OPTB4. 1 PublicationCorresponds to variant rs367567630dbSNPEnsembl.1
Natural variantiVAR_020997215G → R in OPTA2. 2 PublicationsCorresponds to variant rs397515539dbSNPEnsembl.1
Natural variantiVAR_075577224L → R in OPTB2; unknown pathological significance. 1 Publication1
Natural variantiVAR_064639227Missing in OPTB4. 1 Publication1
Natural variantiVAR_020998240G → R in OPTB4. 2 Publications1
Natural variantiVAR_020999249P → R in OPTB4. 1 Publication1
Natural variantiVAR_037427261I → F in OPTB4. 1 PublicationCorresponds to variant rs121434436dbSNPEnsembl.1
Natural variantiVAR_021000286R → Q in OPTA2. 2 PublicationsCorresponds to variant rs760956030dbSNPEnsembl.1
Natural variantiVAR_075578286R → W in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_075579290S → Y in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_075580299A → V in OPTB4; unknown pathological significance. 1 Publication1
Natural variantiVAR_064640318F → L in OPTA2. 1 Publication1
Natural variantiVAR_075581326R → G in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_021001332M → V in OPTB4. 1 Publication1
Natural variantiVAR_075582347G → R in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_064641403R → Q in OPTB4. 1 PublicationCorresponds to variant rs765444328dbSNPEnsembl.1
Natural variantiVAR_021002418V → M.1 PublicationCorresponds to variant rs12926089dbSNPEnsembl.1
Natural variantiVAR_075583473S → N in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_021003490L → F in OPTA2. 1 Publication1
Natural variantiVAR_064642521G → R in OPTB4. 1 PublicationCorresponds to variant rs368190250dbSNPEnsembl.1
Natural variantiVAR_064643526R → Q in OPTB4. 1 PublicationCorresponds to variant rs139329533dbSNPEnsembl.1
Natural variantiVAR_021004526R → W in OPTB4. 2 Publications1
Natural variantiVAR_064644549L → P in OPTB4. 1 Publication1
Natural variantiVAR_075584564L → P in OPTA2; unknown pathological significance. 1 Publication1
Natural variantiVAR_021005614L → P in OPTB4. 1 Publication1
Natural variantiVAR_064645651L → P in OPTB4. 1 Publication1
Natural variantiVAR_021006677G → V in OPTA2. 1 Publication1
Natural variantiVAR_021007744S → F in OPTB4. 1 Publication1
Natural variantiVAR_064646758F → L in OPTA2. 1 PublicationCorresponds to variant rs760740877dbSNPEnsembl.1
Natural variantiVAR_017838762R → Q in OPTA2 and OPTB4; not detected in the fibroblasts from the patient. 2 PublicationsCorresponds to variant rs121434433dbSNPEnsembl.1
Natural variantiVAR_064647762R → W in OPTB4. 1 Publication1
Natural variantiVAR_017839766L → P in OPTB4. 1 PublicationCorresponds to variant rs121434434dbSNPEnsembl.1
Natural variantiVAR_064648767R → P in OPTB4. 1 Publication1
Natural variantiVAR_021008767R → Q in OPTB4. 1 PublicationCorresponds to variant rs772579858dbSNPEnsembl.1
Natural variantiVAR_017840767R → W in OPTA2 and OPTB4. 4 PublicationsCorresponds to variant rs121434435dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04569848 – 71Missing in isoform 2. 1 PublicationAdd BLAST24

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.4. human. [P51798-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliP51798.
SMRiP51798.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107600. 34 interactors.
IntActiP51798. 29 interactors.
MINTiMINT-3019199.
STRINGi9606.ENSP00000372193.

Chemistry databases

GuidetoPHARMACOLOGYi706.

Protein family/group databases

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

PTM databases

iPTMnetiP51798.
PhosphoSitePlusiP51798.

Polymorphism and mutation databases

BioMutaiCLCN7.
DMDMi12644301.

Proteomic databases

EPDiP51798.
MaxQBiP51798.
PaxDbiP51798.
PeptideAtlasiP51798.
PRIDEiP51798.

Protocols and materials databases

DNASUi1186.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000382745; ENSP00000372193; ENSG00000103249. [P51798-1]
ENST00000448525; ENSP00000410907; ENSG00000103249. [P51798-2]
GeneIDi1186.
KEGGihsa:1186.
UCSCiuc002clv.4. human. [P51798-1]

Organism-specific databases

CTDi1186.
DisGeNETi1186.
GeneCardsiCLCN7.
GeneReviewsiCLCN7.
HGNCiHGNC:2025. CLCN7.
HPAiHPA043019.
HPA043586.
MalaCardsiCLCN7.
MIMi166600. phenotype.
259710. phenotype.
602727. gene.
611490. phenotype.
neXtProtiNX_P51798.
OpenTargetsiENSG00000103249.
Orphaneti53. Albers-Schonberg osteopetrosis.
667. Autosomal recessive malignant osteopetrosis.
210110. Intermediate osteopetrosis.
PharmGKBiPA26552.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0474. Eukaryota.
COG0038. LUCA.
GeneTreeiENSGT00760000119109.
HOGENOMiHOG000231081.
HOVERGENiHBG050985.
InParanoidiP51798.
KOiK05016.
PhylomeDBiP51798.
TreeFamiTF313867.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000103249-MONOMER.
ReactomeiR-HSA-2672351. Stimuli-sensing channels.

Miscellaneous databases

ChiTaRSiCLCN7. human.
GeneWikiiCLCN7.
GenomeRNAii1186.
PROiP51798.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000103249.
CleanExiHS_CLCN7.
ExpressionAtlasiP51798. baseline and differential.
GenevisibleiP51798. HS.

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]
ProtoNetiSearch...

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: November 30, 2016
This is version 177 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).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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.