Reviewed,
UniProtKB/Swiss-Prot P51793 (CLCN4_HUMAN)
Last modified
November 25, 2008.
Version 72.
History...
Clusters with 100%,
90%,
50% identity |
Documents (3) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Chloride channel protein 4 Short name=ClC-4 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 760 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at transcript level. |
General annotation (Comments)
| Function | Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. |
| Subcellular location | |
| Tissue specificity | Abundant in skeletal muscle and also detectable in brain and heart. |
| Sequence similarities | Belongs to the chloride channel (TC 2.A.49) family. [View classification] Contains 2 CBS domains. |
Ontologies
Keywords | |
|---|---|
| Biological process | Ion transport Transport |
| Cellular component | Membrane |
| Domain | CBS domain Repeat Transmembrane |
| Ligand | Chloride |
| Molecular function | Chloride channel Ionic channel Voltage-gated channel |
Gene Ontology (GO) | |
| Biological process | chloride transport Ref.2 Inferred from direct assay. Source: MGI |
| Cellular component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | chloride ion binding Inferred from electronic annotation. Source: UniProtKB-KW voltage-gated chloride channel activity Ref.1Traceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 760 | 760 | Chloride channel protein 4 | PRO_0000094443 | |||||
Regions | |||||||||
| Transmembrane | 68 – 88 | 21 | Potential | ||||||
| Transmembrane | 148 – 168 | 21 | Potential | ||||||
| Transmembrane | 202 – 222 | 21 | Potential | ||||||
| Transmembrane | 259 – 279 | 21 | Potential | ||||||
| Transmembrane | 330 – 350 | 21 | Potential | ||||||
| Transmembrane | 365 – 385 | 21 | Potential | ||||||
| Transmembrane | 442 – 462 | 21 | Potential | ||||||
| Transmembrane | 467 – 487 | 21 | Potential | ||||||
| Transmembrane | 508 – 528 | 21 | Potential | ||||||
| Transmembrane | 535 – 555 | 21 | Potential | ||||||
| Domain | 600 – 666 | 67 | CBS 1 | ||||||
| Domain | 697 – 755 | 59 | CBS 2 | ||||||
Experimental info | |||||||||
| Sequence conflict | 178 | 1 | A → R in CAA54417. Ref.1 | ||||||
| Sequence conflict | 498 – 499 | 2 | II → YY in CAA54417. Ref.1 | ||||||
| Sequence conflict | 659 | 1 | K → N in CAA54417. Ref.1 | ||||||
Sequences
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References
| [1] | "A gene from the Xp22.3 region shares homology with voltage-gated chloride channels." van Slegtenhorst M.A., Bassi M.T., Borsani G., Wapenaar M.C., Ferrero G.B., de Conciliis L., Rugarli E.I., Grillo A., Franco B., Zoghbi H.Y., Ballabio A. Hum. Mol. Genet. 3:547-552(1994) [PubMed: 8069296] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Retina. |
| [2] | "Identification of an acid-activated Cl- channel from human skeletal muscles." Kawasaki M., Fukuma T., Yamauchi K., Sakamoto H., Marumo F., Sasaki S. Am. J. Physiol. 277:C948-C954(1999) [PubMed: 10564087] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Skeletal muscle. |
| [3] | "A chloride channel (ClC-4) in human lens epithelium." Rae J.L. Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Lens epithelium. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| X77197 mRNA. Translation: CAA54417.1. AB019432 mRNA. Translation: BAA77327.1. AF170492 mRNA. Translation: AAD50981.1. | |
| PIR | I37242. |
| RefSeq | NP_001821.2. |
| UniGene | Hs.495674 |
3D structure databases | |
| SMR | P51793. Positions 592-753. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | P51793. |
Genome annotation databases | |
| Ensembl | ENSG00000073464. Homo sapiens. [Contig view] |
| GeneID | 1183. |
| KEGG | hsa:1183. |
Organism-specific databases | |
| HGNC | HGNC:2022. CLCN4. |
| MIM | 302910. gene. |
| PharmGKB | PA26549. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOGENOM | P51793. |
| HOVERGEN | P51793. |
Gene expression databases | |
| ArrayExpress | P51793. |
| CleanEx | HS_CLCN4. |
| GermOnline | ENSG00000073464. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR014743. Cl-channel_core. IPR001807. Cl-channel_volt. IPR002246. Cl_channel4. IPR000644. Cysta_beta_synth_core. [Graphical view] |
| Gene3D | G3DSA:1.10.3080.10. Cl-channel_core. 1 hit. |
| PANTHER | PTHR11689. Cl-channel_volt. 1 hit. |
| Pfam | PF00571. CBS. 1 hit. PF00654. Voltage_CLC. 1 hit. [Graphical view] |
| PRINTS | PR00762. CLCHANNEL. PR01115. CLCHANNEL4. |
| SMART | SM00116. CBS. 2 hits. [Graphical view] |
| PROSITE | PS51371. CBS. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 4890. |
| SOURCE | Search... |
Entry information
| Entry name | CLCN4_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P51793 Secondary accession number(s): Q9UBU1 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome X Human chromosome X: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


