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

Regions

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

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

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)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 126126CytoplasmicBy similarityAdd
BLAST
Transmembranei127 – 15933HelicalBy similarityAdd
BLAST
Transmembranei174 – 19724HelicalBy similarityAdd
BLAST
Intramembranei206 – 2138HelicalBy similarity
Transmembranei223 – 24119HelicalBy similarityAdd
BLAST
Transmembranei247 – 26418HelicalBy similarityAdd
BLAST
Intramembranei288 – 30013HelicalBy similarityAdd
BLAST
Intramembranei304 – 3129HelicalBy similarity
Transmembranei322 – 34120HelicalBy similarityAdd
BLAST
Transmembranei375 – 40531HelicalBy similarityAdd
BLAST
Transmembranei410 – 43223HelicalBy similarityAdd
BLAST
Transmembranei487 – 50721HelicalBy similarityAdd
BLAST
Transmembranei512 – 53524HelicalBy similarityAdd
BLAST
Intramembranei545 – 55915HelicalBy similarityAdd
BLAST
Intramembranei560 – 5623Note=Loop between two helicesBy similarity
Intramembranei563 – 57412HelicalBy similarityAdd
BLAST
Intramembranei575 – 5784Note=Loop between two helicesBy similarity
Transmembranei579 – 59719HelicalBy similarityAdd
BLAST
Topological domaini598 – 805208CytoplasmicBy similarityAdd
BLAST

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti132 – 1321L → P in OPTB4. 1 Publication
VAR_064637
Natural varianti214 – 2141N → S in OPTB4. 1 Publication
Corresponds to variant rs367567630 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121434436 [ dbSNP | Ensembl ].
VAR_037427
Natural varianti299 – 2991A → V in OPTB4; unknown pathological significance. 1 Publication
VAR_075580
Natural varianti332 – 3321M → V in OPTB4. 1 Publication
VAR_021001
Natural varianti403 – 4031R → Q in OPTB4. 1 Publication
Corresponds to variant rs765444328 [ dbSNP | Ensembl ].
VAR_064641
Natural varianti521 – 5211G → R in OPTB4. 1 Publication
Corresponds to variant rs368190250 [ dbSNP | Ensembl ].
VAR_064642
Natural varianti526 – 5261R → Q in OPTB4. 1 Publication
Corresponds to variant rs139329533 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121434433 [ dbSNP | Ensembl ].
VAR_017838
Natural varianti762 – 7621R → W in OPTB4. 1 Publication
VAR_064647
Natural varianti766 – 7661L → P in OPTB4. 1 Publication
Corresponds to variant rs121434434 [ dbSNP | Ensembl ].
VAR_017839
Natural varianti767 – 7671R → P in OPTB4. 1 Publication
VAR_064648
Natural varianti767 – 7671R → Q in OPTB4. 1 Publication
Corresponds to variant rs772579858 [ dbSNP | Ensembl ].
VAR_021008
Natural varianti767 – 7671R → W in OPTA2 and OPTB4. 4 Publications
Corresponds to variant rs121434435 [ dbSNP | Ensembl ].
VAR_017840
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti213 – 2131L → F in OPTA2; unknown pathological significance. 1 Publication
VAR_075576
Natural varianti215 – 2151G → R in OPTA2. 2 Publications
Corresponds to variant rs397515539 [ dbSNP | Ensembl ].
VAR_020997
Natural varianti286 – 2861R → Q in OPTA2. 2 Publications
Corresponds to variant rs760956030 [ dbSNP | Ensembl ].
VAR_021000
Natural varianti286 – 2861R → W in OPTA2; unknown pathological significance. 1 Publication
VAR_075578
Natural varianti290 – 2901S → Y in OPTA2; unknown pathological significance. 1 Publication
VAR_075579
Natural varianti318 – 3181F → L in OPTA2. 1 Publication
VAR_064640
Natural varianti326 – 3261R → G in OPTA2; unknown pathological significance. 1 Publication
VAR_075581
Natural varianti347 – 3471G → R in OPTA2; unknown pathological significance. 1 Publication
VAR_075582
Natural varianti473 – 4731S → N in OPTA2; unknown pathological significance. 1 Publication
VAR_075583
Natural varianti490 – 4901L → F in OPTA2. 1 Publication
VAR_021003
Natural varianti564 – 5641L → P in OPTA2; unknown pathological significance. 1 Publication
VAR_075584
Natural varianti677 – 6771G → V in OPTA2. 1 Publication
VAR_021006
Natural varianti758 – 7581F → L in OPTA2. 1 Publication
Corresponds to variant rs760740877 [ dbSNP | Ensembl ].
VAR_064646
Natural varianti762 – 7621R → Q in OPTA2 and OPTB4; not detected in the fibroblasts from the patient. 2 Publications
Corresponds to variant rs121434433 [ dbSNP | Ensembl ].
VAR_017838
Natural varianti767 – 7671R → W in OPTA2 and OPTB4. 4 Publications
Corresponds to variant rs121434435 [ dbSNP | Ensembl ].
VAR_017840
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti224 – 2241L → R in OPTB2; unknown pathological significance. 1 Publication
VAR_075577

Keywords - Diseasei

Disease mutation, Osteopetrosis

Organism-specific databases

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

Chemistry

GuidetoPHARMACOLOGYi706.

Polymorphism and mutation databases

BioMutaiCLCN7.
DMDMi12644301.

PTM / Processingi

Molecule processing

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

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei9 – 91PhosphoserineBy similarity
Modified residuei60 – 601PhosphoserineCombined sources
Modified residuei801 – 8011PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP51798.
MaxQBiP51798.
PaxDbiP51798.
PeptideAtlasiP51798.
PRIDEiP51798.

PTM databases

iPTMnetiP51798.
PhosphoSiteiP51798.

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 interactions.
IntActiP51798. 27 interactions.
MINTiMINT-3019199.
STRINGi9606.ENSP00000372193.

Structurei

3D structure databases

ProteinModelPortaliP51798.
SMRiP51798. Positions 129-631.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini631 – 69565CBS 1PROSITE-ProRule annotationAdd
BLAST
Domaini741 – 79959CBS 2PROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi203 – 2075Selectivity filter part_1By similarity
Motifi245 – 2495Selectivity filter part_2By similarity
Motifi512 – 5165Selectivity filter part_3By similarity

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti74 – 741D → V in BAF84825 (PubMed:14702039).Curated
Sequence conflicti267 – 2671T → S in CAA91556 (PubMed:8543009).Curated
Sequence conflicti279 – 2791F → L in CAA91556 (PubMed:8543009).Curated
Sequence conflicti279 – 2791F → L in CAA05083 (PubMed:9565675).Curated
Sequence conflicti324 – 3241T → A in BAF84825 (PubMed:14702039).Curated
Sequence conflicti348 – 3481N → S in BAG51745 (PubMed:14702039).Curated
Sequence conflicti415 – 4151I → V in BAG51745 (PubMed:14702039).Curated
Sequence conflicti710 – 7101D → G in BAG51745 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti132 – 1321L → P in OPTB4. 1 Publication
VAR_064637
Natural varianti213 – 2131L → F in OPTA2; unknown pathological significance. 1 Publication
VAR_075576
Natural varianti214 – 2141N → S in OPTB4. 1 Publication
Corresponds to variant rs367567630 [ dbSNP | Ensembl ].
VAR_064638
Natural varianti215 – 2151G → R in OPTA2. 2 Publications
Corresponds to variant rs397515539 [ dbSNP | Ensembl ].
VAR_020997
Natural varianti224 – 2241L → R in OPTB2; unknown pathological significance. 1 Publication
VAR_075577
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
Corresponds to variant rs121434436 [ dbSNP | Ensembl ].
VAR_037427
Natural varianti286 – 2861R → Q in OPTA2. 2 Publications
Corresponds to variant rs760956030 [ dbSNP | Ensembl ].
VAR_021000
Natural varianti286 – 2861R → W in OPTA2; unknown pathological significance. 1 Publication
VAR_075578
Natural varianti290 – 2901S → Y in OPTA2; unknown pathological significance. 1 Publication
VAR_075579
Natural varianti299 – 2991A → V in OPTB4; unknown pathological significance. 1 Publication
VAR_075580
Natural varianti318 – 3181F → L in OPTA2. 1 Publication
VAR_064640
Natural varianti326 – 3261R → G in OPTA2; unknown pathological significance. 1 Publication
VAR_075581
Natural varianti332 – 3321M → V in OPTB4. 1 Publication
VAR_021001
Natural varianti347 – 3471G → R in OPTA2; unknown pathological significance. 1 Publication
VAR_075582
Natural varianti403 – 4031R → Q in OPTB4. 1 Publication
Corresponds to variant rs765444328 [ dbSNP | Ensembl ].
VAR_064641
Natural varianti418 – 4181V → M.1 Publication
Corresponds to variant rs12926089 [ dbSNP | Ensembl ].
VAR_021002
Natural varianti473 – 4731S → N in OPTA2; unknown pathological significance. 1 Publication
VAR_075583
Natural varianti490 – 4901L → F in OPTA2. 1 Publication
VAR_021003
Natural varianti521 – 5211G → R in OPTB4. 1 Publication
Corresponds to variant rs368190250 [ dbSNP | Ensembl ].
VAR_064642
Natural varianti526 – 5261R → Q in OPTB4. 1 Publication
Corresponds to variant rs139329533 [ dbSNP | Ensembl ].
VAR_064643
Natural varianti526 – 5261R → W in OPTB4. 2 Publications
VAR_021004
Natural varianti549 – 5491L → P in OPTB4. 1 Publication
VAR_064644
Natural varianti564 – 5641L → P in OPTA2; unknown pathological significance. 1 Publication
VAR_075584
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
Corresponds to variant rs760740877 [ dbSNP | Ensembl ].
VAR_064646
Natural varianti762 – 7621R → Q in OPTA2 and OPTB4; not detected in the fibroblasts from the patient. 2 Publications
Corresponds to variant rs121434433 [ dbSNP | Ensembl ].
VAR_017838
Natural varianti762 – 7621R → W in OPTB4. 1 Publication
VAR_064647
Natural varianti766 – 7661L → P in OPTB4. 1 Publication
Corresponds to variant rs121434434 [ dbSNP | Ensembl ].
VAR_017839
Natural varianti767 – 7671R → P in OPTB4. 1 Publication
VAR_064648
Natural varianti767 – 7671R → Q in OPTB4. 1 Publication
Corresponds to variant rs772579858 [ dbSNP | Ensembl ].
VAR_021008
Natural varianti767 – 7671R → W in OPTA2 and OPTB4. 4 Publications
Corresponds to variant rs121434435 [ dbSNP | Ensembl ].
VAR_017840

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei48 – 7124Missing in isoform 2. 1 PublicationVSP_045698Add
BLAST

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. Positions 129-631.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107600. 34 interactions.
IntActiP51798. 27 interactions.
MINTiMINT-3019199.
STRINGi9606.ENSP00000372193.

Chemistry

GuidetoPHARMACOLOGYi706.

Protein family/group databases

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

PTM databases

iPTMnetiP51798.
PhosphoSiteiP51798.

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.
GeneCardsiCLCN7.
GeneReviewsiCLCN7.
HGNCiHGNC:2025. CLCN7.
HPAiHPA043019.
HPA043586.
MalaCardsiCLCN7.
MIMi166600. phenotype.
259710. phenotype.
602727. gene.
611490. phenotype.
neXtProtiNX_P51798.
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

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: September 7, 2016
This is version 174 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.