UniProtKB - P51793 (CLCN4_HUMAN)
H(+)/Cl(-) exchange transporter 4
CLCN4
Functioni
Strongly outwardly rectifying, electrogenic H+/Cl-exchanger which mediates the exchange of chloride ions against protons (PubMed:18063579, PubMed:28972156, PubMed:23647072, PubMed:27550844, PubMed:25644381).
The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons (PubMed:29845874).
The presence of conserved gating glutamate residues is typical for family members that function as antiporters (PubMed:29845874).
1 Publication5 PublicationsSites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 181 | ChlorideBy similarity | 1 | |
Sitei | 224 | Mediates proton transfer from the outer aqueous phase to the interior of the protein; involved in linking H(+) and Cl(-) transport | 1 | |
Sitei | 281 | Mediates proton transfer from the protein to the inner aqueous phase | 1 | |
Binding sitei | 469 | Chloride; via amide nitrogenBy similarity | 1 | |
Binding sitei | 572 | ChlorideBy similarity | 1 | |
Binding sitei | 610 | ATP; via amide nitrogen and carbonyl oxygenBy similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 631 – 633 | ATPBy similarity | 3 | |
Nucleotide bindingi | 738 – 741 | ATPBy similarity | 4 |
GO - Molecular functioni
- antiporter activity Source: UniProtKB
- ATP binding Source: UniProtKB-KW
- chloride channel activity Source: MGI
- solute:proton antiporter activity Source: GO_Central
- voltage-gated chloride channel activity Source: GO_Central
GO - Biological processi
- chloride transport Source: MGI
- ion transmembrane transport Source: Reactome
- non-motile cilium assembly Source: Ensembl
Keywordsi
Biological process | Antiport, Ion transport, Transport |
Ligand | ATP-binding, Chloride, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | P51793 |
Reactomei | R-HSA-2672351, Stimuli-sensing channels |
SignaLinki | P51793 |
SIGNORi | P51793 |
Protein family/group databases
TCDBi | 2.A.49.2.8, the chloride carrier/channel (clc) family |
Names & Taxonomyi
Protein namesi | Recommended name: H(+)/Cl(-) exchange transporter 4Alternative name(s): Chloride channel protein 4 Short name: ClC-4 Chloride transporter ClC-4 |
Gene namesi | Name:CLCN4 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2022, CLCN4 |
MIMi | 302910, gene |
neXtProti | NX_P51793 |
VEuPathDBi | HostDB:ENSG00000073464 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane 2 Publications; Multi-pass membrane protein Sequence analysis
Endosome
- Early endosome membrane By similarity; Multi-pass membrane protein Sequence analysis
- Late endosome membrane 1 Publication; Multi-pass membrane protein Sequence analysis
- Recycling endosome membrane 1 Publication; Multi-pass membrane protein Sequence analysis
Lysosome
- Lysosome membrane 1 Publication; Multi-pass membrane protein Sequence analysis
Note: Localizes to late endosome membrane, lysosome membrane and recycling endosome membrane in the presence of CLCN3.1 Publication
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: UniProtKB
Endosome
- early endosome Source: GO_Central
- early endosome membrane Source: UniProtKB-SubCell
- endosome membrane Source: UniProtKB
- late endosome membrane Source: UniProtKB-SubCell
- recycling endosome Source: UniProtKB
- recycling endosome membrane Source: UniProtKB-SubCell
Golgi apparatus
- Golgi apparatus Source: GO_Central
Lysosome
- lysosomal membrane Source: UniProtKB
Plasma Membrane
- integral component of plasma membrane Source: GO_Central
Other locations
- ciliary base Source: Ensembl
- synaptic vesicle Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 67 | CytoplasmicBy similarityAdd BLAST | 67 | |
Transmembranei | 68 – 105 | HelicalBy similarityAdd BLAST | 38 | |
Transmembranei | 151 – 174 | HelicalBy similarityAdd BLAST | 24 | |
Intramembranei | 183 – 190 | HelicalBy similarity | 8 | |
Transmembranei | 200 – 218 | HelicalBy similarityAdd BLAST | 19 | |
Transmembranei | 224 – 243 | HelicalBy similarityAdd BLAST | 20 | |
Intramembranei | 255 – 267 | HelicalBy similarityAdd BLAST | 13 | |
Intramembranei | 271 – 279 | HelicalBy similarity | 9 | |
Transmembranei | 291 – 309 | HelicalBy similarityAdd BLAST | 19 | |
Transmembranei | 333 – 358 | HelicalBy similarityAdd BLAST | 26 | |
Transmembranei | 365 – 385 | HelicalBy similarityAdd BLAST | 21 | |
Transmembranei | 442 – 462 | HelicalBy similarityAdd BLAST | 21 | |
Transmembranei | 467 – 486 | HelicalBy similarityAdd BLAST | 20 | |
Intramembranei | 514 – 528 | HelicalBy similarityAdd BLAST | 15 | |
Intramembranei | 532 – 543 | HelicalBy similarityAdd BLAST | 12 | |
Intramembranei | 544 – 547 | Note=Loop between two helicesBy similarity | 4 | |
Transmembranei | 548 – 566 | HelicalBy similarityAdd BLAST | 19 | |
Topological domaini | 567 – 760 | CytoplasmicBy similarityAdd BLAST | 194 |
Keywords - Cellular componenti
Endoplasmic reticulum, Endosome, Lysosome, MembranePathology & Biotechi
Involvement in diseasei
Raynaud-Claes syndrome (MRXSRC)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083577 | 15 | D → N in MRXSRC; also in patients with complex congenital diaphragmatic hernia; unknown pathological significance; no reduction in outwardly-rectifying currents; does not affect its localization in endoplasmic reticulum membrane. 2 PublicationsCorresponds to variant dbSNP:rs879255591EnsemblClinVar. | 1 | |
Natural variantiVAR_077819 | 78 | G → S in MRXSRC; marked reduction in outwardly-rectifying currents. 2 PublicationsCorresponds to variant dbSNP:rs1569226551EnsemblClinVar. | 1 | |
Natural variantiVAR_083578 | 212 | V → G in MRXSRC; marked reduction in outwardly-rectifying currents; does not affect its localization in endoplasmic reticulum membrane. 1 PublicationCorresponds to variant dbSNP:rs879255580EnsemblClinVar. | 1 | |
Natural variantiVAR_083579 | 221 | L → P in MRXSRC; marked reduction in outwardly-rectifying currents; does not affect its localization in endoplasmic reticulum membrane. 1 PublicationCorresponds to variant dbSNP:rs879255581EnsemblClinVar. | 1 | |
Natural variantiVAR_077820 | 221 | L → V in MRXSRC; marked reduction in outwardly-rectifying currents. 2 PublicationsCorresponds to variant dbSNP:rs1569230006EnsemblClinVar. | 1 | |
Natural variantiVAR_083580 | 275 | V → M in MRXSRC; marked reduction in outwardly-rectifying currents; does not affect its localization in endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs879255585EnsemblClinVar. | 1 | |
Natural variantiVAR_083581 | 534 | S → L in MRXSRC; marked reduction in outwardly-rectifying currents; does not affect its localization in endoplasmic reticulum membrane. 1 PublicationCorresponds to variant dbSNP:rs879255582EnsemblClinVar. | 1 | |
Natural variantiVAR_077821 | 536 | V → M in MRXSRC; marked reduction in outwardly-rectifying currents. 2 PublicationsCorresponds to variant dbSNP:rs1569231897EnsemblClinVar. | 1 | |
Natural variantiVAR_077822 | 544 | G → R in MRXSRC; has normal localization to structures resembling endoplasmic reticulum membranes; almost abolishes the outwardly-rectifying currents. 2 PublicationsCorresponds to variant dbSNP:rs587777161EnsemblClinVar. | 1 | |
Natural variantiVAR_083582 | 555 | A → V in MRXSRC; marked reduction in outwardly-rectifying currents; does not affect its localization in endoplasmic reticulum membrane. 1 PublicationCorresponds to variant dbSNP:rs879255583EnsemblClinVar. | 1 | |
Natural variantiVAR_083583 | 718 | R → W in MRXSRC; marked reduction in outwardly-rectifying currents; does not affect its localization in endoplasmic reticulum membrane. 1 PublicationCorresponds to variant dbSNP:rs879255584EnsemblClinVar. | 1 | |
Natural variantiVAR_077823 | 731 | G → R in MRXSRC; marked reduction in outwardly-rectifying currents. 2 PublicationsCorresponds to variant dbSNP:rs1569233549EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 224 | E → A: Restores chloride translocation, but not proton transport; when associated with A-281. 1 Publication | 1 | |
Mutagenesisi | 281 | E → A: Abolishes translocation of protons and chloride ions. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 1183 |
GeneReviewsi | CLCN4 |
MalaCardsi | CLCN4 |
MIMi | 300114, phenotype |
OpenTargetsi | ENSG00000073464 |
Orphaneti | 485350, CLCN4-related X-linked intellectual disability syndrome 777, X-linked non-syndromic intellectual disability |
PharmGKBi | PA26549 |
Miscellaneous databases
Pharosi | P51793, Tchem |
Chemistry databases
GuidetoPHARMACOLOGYi | 703 |
Genetic variation databases
BioMutai | CLCN4 |
DMDMi | 20141247 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000094443 | 1 – 760 | H(+)/Cl(-) exchange transporter 4Add BLAST | 760 |
Proteomic databases
jPOSTi | P51793 |
MassIVEi | P51793 |
MaxQBi | P51793 |
PaxDbi | P51793 |
PeptideAtlasi | P51793 |
PRIDEi | P51793 |
ProteomicsDBi | 56390 [P51793-1] 6731 |
PTM databases
iPTMneti | P51793 |
PhosphoSitePlusi | P51793 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000073464, Expressed in Brodmann (1909) area 46 and 215 other tissues |
ExpressionAtlasi | P51793, baseline and differential |
Genevisiblei | P51793, HS |
Organism-specific databases
HPAi | ENSG00000073464, Tissue enhanced (brain, retina, skeletal muscle, tongue) |
Interactioni
Subunit structurei
Binary interactionsi
P51793
With | #Exp. | IntAct |
---|---|---|
ABHD5 [Q8WTS1] | 3 | EBI-22754239,EBI-2813554 |
Protein-protein interaction databases
BioGRIDi | 107597, 3 interactors |
IntActi | P51793, 1 interactor |
STRINGi | 9606.ENSP00000370213 |
Miscellaneous databases
RNActi | P51793, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 600 – 666 | CBS 1PROSITE-ProRule annotationAdd BLAST | 67 | |
Domaini | 697 – 755 | CBS 2PROSITE-ProRule annotationAdd BLAST | 59 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 14 – 63 | Required for localization in the endoplasmic reticulum1 PublicationAdd BLAST | 50 | |
Regioni | 667 – 696 | Required for localization in the endoplasmic reticulum1 PublicationAdd BLAST | 30 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 180 – 184 | Selectivity filter part_1By similarity | 5 | |
Motifi | 222 – 226 | Selectivity filter part_2By similarity | 5 | |
Motifi | 467 – 471 | Selectivity filter part_3By similarity | 5 |
Sequence similaritiesi
Keywords - Domaini
CBS domain, Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0475, Eukaryota |
GeneTreei | ENSGT00940000158265 |
HOGENOMi | CLU_003181_2_1_1 |
InParanoidi | P51793 |
OMAi | KYAGLVH |
OrthoDBi | 271925at2759 |
PhylomeDBi | P51793 |
TreeFami | TF313867 |
Family and domain databases
InterProi | View protein in InterPro IPR000644, CBS_dom IPR046342, CBS_dom_sf IPR014743, Cl-channel_core IPR001807, Cl-channel_volt-gated IPR002246, Cl_channel-4 |
PANTHERi | PTHR45711:SF2, PTHR45711:SF2, 1 hit |
Pfami | View protein in Pfam PF00571, CBS, 2 hits PF00654, Voltage_CLC, 1 hit |
PRINTSi | PR00762, CLCHANNEL PR01115, CLCHANNEL4 |
SMARTi | View protein in SMART SM00116, CBS, 2 hits |
SUPFAMi | SSF54631, SSF54631, 1 hit SSF81340, SSF81340, 1 hit |
PROSITEi | View protein in PROSITE PS51371, CBS, 2 hits |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MVNAGAMSGS GNLMDFLDEP FPDVGTYEDF HTIDWLREKS RDTDRHRKIT
60 70 80 90 100
SKSKESIWEF IKSLLDAWSG WVVMLLIGLL AGTLAGVIDL AVDWMTDLKE
110 120 130 140 150
GVCLSAFWYS HEQCCWTSNE TTFEDRDKCP LWQKWSELLV NQSEGASAYI
160 170 180 190 200
LNYLMYILWA LLFAFLAVSL VRVFAPYACG SGIPEIKTIL SGFIIRGYLG
210 220 230 240 250
KWTLLIKTVT LVLVVSSGLS LGKEGPLVHV ACCCGNFFSS LFSKYSKNEG
260 270 280 290 300
KRREVLSAAA AAGVSVAFGA PIGGVLFSLE EVSYYFPLKT LWRSFFAALV
310 320 330 340 350
AAFTLRSINP FGNSRLVLFY VEYHTPWYMA ELFPFILLGV FGGLWGTLFI
360 370 380 390 400
RCNIAWCRRR KTTRLGKYPV LEVIVVTAIT AIIAYPNPYT RQSTSELISE
410 420 430 440 450
LFNDCGALES SQLCDYINDP NMTRPVDDIP DRPAGVGVYT AMWQLALALI
460 470 480 490 500
FKIVVTIFTF GMKIPSGLFI PSMAVGAIAG RMVGIGVEQL AYHHHDWIIF
510 520 530 540 550
RNWCRPGADC VTPGLYAMVG AAACLGGVTR MTVSLVVIMF ELTGGLEYIV
560 570 580 590 600
PLMAAAVTSK WVADAFGKEG IYEAHIHLNG YPFLDVKDEF THRTLATDVM
610 620 630 640 650
RPRRGEPPLS VLTQDSMTVE DVETLIKETD YNGFPVVVSR DSERLIGFAQ
660 670 680 690 700
RRELILAIKN ARQRQEGIVS NSIMYFTEEP PELPANSPHP LKLRRILNLS
710 720 730 740 750
PFTVTDHTPM ETVVDIFRKL GLRQCLVTRS GRLLGIITKK DVLRHMAQMA
760
NQDPESIMFN
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A7I2Y1J6 | A0A7I2Y1J6_HUMAN | Chloride channel protein | CLCN4 | 768 | Annotation score: | ||
G3XAG5 | G3XAG5_HUMAN | Chloride channel protein | CLCN4 hCG_401215 | 729 | Annotation score: | ||
A0A6Q8PG54 | A0A6Q8PG54_HUMAN | Chloride channel protein | CLCN4 | 735 | Annotation score: | ||
E9PFB5 | E9PFB5_HUMAN | H(+)/Cl(-) exchange transporter 4 | CLCN4 | 152 | Annotation score: | ||
A0A6Q8PF24 | A0A6Q8PF24_HUMAN | H(+)/Cl(-) exchange transporter 4 | CLCN4 | 103 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 178 | A → R in CAA54417 (PubMed:8069296).Curated | 1 | |
Sequence conflicti | 498 – 499 | II → YY in CAA54417 (PubMed:8069296).Curated | 2 | |
Sequence conflicti | 659 | K → N in CAA54417 (PubMed:8069296).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083577 | 15 | D → N in MRXSRC; also in patients with complex congenital diaphragmatic hernia; unknown pathological significance; no reduction in outwardly-rectifying currents; does not affect its localization in endoplasmic reticulum membrane. 2 PublicationsCorresponds to variant dbSNP:rs879255591EnsemblClinVar. | 1 | |
Natural variantiVAR_077819 | 78 | G → S in MRXSRC; marked reduction in outwardly-rectifying currents. 2 PublicationsCorresponds to variant dbSNP:rs1569226551EnsemblClinVar. | 1 | |
Natural variantiVAR_083578 | 212 | V → G in MRXSRC; marked reduction in outwardly-rectifying currents; does not affect its localization in endoplasmic reticulum membrane. 1 PublicationCorresponds to variant dbSNP:rs879255580EnsemblClinVar. | 1 | |
Natural variantiVAR_083579 | 221 | L → P in MRXSRC; marked reduction in outwardly-rectifying currents; does not affect its localization in endoplasmic reticulum membrane. 1 PublicationCorresponds to variant dbSNP:rs879255581EnsemblClinVar. | 1 | |
Natural variantiVAR_077820 | 221 | L → V in MRXSRC; marked reduction in outwardly-rectifying currents. 2 PublicationsCorresponds to variant dbSNP:rs1569230006EnsemblClinVar. | 1 | |
Natural variantiVAR_083580 | 275 | V → M in MRXSRC; marked reduction in outwardly-rectifying currents; does not affect its localization in endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs879255585EnsemblClinVar. | 1 | |
Natural variantiVAR_083581 | 534 | S → L in MRXSRC; marked reduction in outwardly-rectifying currents; does not affect its localization in endoplasmic reticulum membrane. 1 PublicationCorresponds to variant dbSNP:rs879255582EnsemblClinVar. | 1 | |
Natural variantiVAR_077821 | 536 | V → M in MRXSRC; marked reduction in outwardly-rectifying currents. 2 PublicationsCorresponds to variant dbSNP:rs1569231897EnsemblClinVar. | 1 | |
Natural variantiVAR_077822 | 544 | G → R in MRXSRC; has normal localization to structures resembling endoplasmic reticulum membranes; almost abolishes the outwardly-rectifying currents. 2 PublicationsCorresponds to variant dbSNP:rs587777161EnsemblClinVar. | 1 | |
Natural variantiVAR_083582 | 555 | A → V in MRXSRC; marked reduction in outwardly-rectifying currents; does not affect its localization in endoplasmic reticulum membrane. 1 PublicationCorresponds to variant dbSNP:rs879255583EnsemblClinVar. | 1 | |
Natural variantiVAR_083583 | 718 | R → W in MRXSRC; marked reduction in outwardly-rectifying currents; does not affect its localization in endoplasmic reticulum membrane. 1 PublicationCorresponds to variant dbSNP:rs879255584EnsemblClinVar. | 1 | |
Natural variantiVAR_077823 | 731 | G → R in MRXSRC; marked reduction in outwardly-rectifying currents. 2 PublicationsCorresponds to variant dbSNP:rs1569233549EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_054658 | 1 – 94 | Missing in isoform 2. 1 PublicationAdd BLAST | 94 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X77197 mRNA Translation: CAA54417.1 AB019432 mRNA Translation: BAA77327.1 AF170492 mRNA Translation: AAD50981.1 AK289564 mRNA Translation: BAF82253.1 AK299611 mRNA Translation: BAH13080.1 AC003666 Genomic DNA No translation available. AC121345 Genomic DNA No translation available. CH471074 Genomic DNA Translation: EAW98778.1 BC130278 mRNA Translation: AAI30279.1 |
CCDSi | CCDS14137.1 [P51793-1] CCDS59159.1 [P51793-2] |
PIRi | I37242 |
RefSeqi | NP_001243873.1, NM_001256944.1 [P51793-2] NP_001821.2, NM_001830.3 [P51793-1] |
Genome annotation databases
Ensembli | ENST00000380833.9; ENSP00000370213.4; ENSG00000073464.13 ENST00000674669.1; ENSP00000501922.1; ENSG00000073464.13 [P51793-2] |
GeneIDi | 1183 |
KEGGi | hsa:1183 |
MANE-Selecti | ENST00000380833.9; ENSP00000370213.4; NM_001830.4; NP_001821.2 |
UCSCi | uc004csy.5, human [P51793-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X77197 mRNA Translation: CAA54417.1 AB019432 mRNA Translation: BAA77327.1 AF170492 mRNA Translation: AAD50981.1 AK289564 mRNA Translation: BAF82253.1 AK299611 mRNA Translation: BAH13080.1 AC003666 Genomic DNA No translation available. AC121345 Genomic DNA No translation available. CH471074 Genomic DNA Translation: EAW98778.1 BC130278 mRNA Translation: AAI30279.1 |
CCDSi | CCDS14137.1 [P51793-1] CCDS59159.1 [P51793-2] |
PIRi | I37242 |
RefSeqi | NP_001243873.1, NM_001256944.1 [P51793-2] NP_001821.2, NM_001830.3 [P51793-1] |
3D structure databases
AlphaFoldDBi | P51793 |
SMRi | P51793 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 107597, 3 interactors |
IntActi | P51793, 1 interactor |
STRINGi | 9606.ENSP00000370213 |
Chemistry databases
GuidetoPHARMACOLOGYi | 703 |
Protein family/group databases
TCDBi | 2.A.49.2.8, the chloride carrier/channel (clc) family |
PTM databases
iPTMneti | P51793 |
PhosphoSitePlusi | P51793 |
Genetic variation databases
BioMutai | CLCN4 |
DMDMi | 20141247 |
Proteomic databases
jPOSTi | P51793 |
MassIVEi | P51793 |
MaxQBi | P51793 |
PaxDbi | P51793 |
PeptideAtlasi | P51793 |
PRIDEi | P51793 |
ProteomicsDBi | 56390 [P51793-1] 6731 |
Protocols and materials databases
ABCDi | P51793, 1 sequenced antibody |
Antibodypediai | 23690, 180 antibodies from 30 providers |
DNASUi | 1183 |
Genome annotation databases
Ensembli | ENST00000380833.9; ENSP00000370213.4; ENSG00000073464.13 ENST00000674669.1; ENSP00000501922.1; ENSG00000073464.13 [P51793-2] |
GeneIDi | 1183 |
KEGGi | hsa:1183 |
MANE-Selecti | ENST00000380833.9; ENSP00000370213.4; NM_001830.4; NP_001821.2 |
UCSCi | uc004csy.5, human [P51793-1] |
Organism-specific databases
CTDi | 1183 |
DisGeNETi | 1183 |
GeneCardsi | CLCN4 |
GeneReviewsi | CLCN4 |
HGNCi | HGNC:2022, CLCN4 |
HPAi | ENSG00000073464, Tissue enhanced (brain, retina, skeletal muscle, tongue) |
MalaCardsi | CLCN4 |
MIMi | 300114, phenotype 302910, gene |
neXtProti | NX_P51793 |
OpenTargetsi | ENSG00000073464 |
Orphaneti | 485350, CLCN4-related X-linked intellectual disability syndrome 777, X-linked non-syndromic intellectual disability |
PharmGKBi | PA26549 |
VEuPathDBi | HostDB:ENSG00000073464 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0475, Eukaryota |
GeneTreei | ENSGT00940000158265 |
HOGENOMi | CLU_003181_2_1_1 |
InParanoidi | P51793 |
OMAi | KYAGLVH |
OrthoDBi | 271925at2759 |
PhylomeDBi | P51793 |
TreeFami | TF313867 |
Enzyme and pathway databases
PathwayCommonsi | P51793 |
Reactomei | R-HSA-2672351, Stimuli-sensing channels |
SignaLinki | P51793 |
SIGNORi | P51793 |
Miscellaneous databases
BioGRID-ORCSi | 1183, 6 hits in 695 CRISPR screens |
ChiTaRSi | CLCN4, human |
GeneWikii | CLCN4 |
GenomeRNAii | 1183 |
Pharosi | P51793, Tchem |
PROi | PR:P51793 |
RNActi | P51793, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000073464, Expressed in Brodmann (1909) area 46 and 215 other tissues |
ExpressionAtlasi | P51793, baseline and differential |
Genevisiblei | P51793, HS |
Family and domain databases
InterProi | View protein in InterPro IPR000644, CBS_dom IPR046342, CBS_dom_sf IPR014743, Cl-channel_core IPR001807, Cl-channel_volt-gated IPR002246, Cl_channel-4 |
PANTHERi | PTHR45711:SF2, PTHR45711:SF2, 1 hit |
Pfami | View protein in Pfam PF00571, CBS, 2 hits PF00654, Voltage_CLC, 1 hit |
PRINTSi | PR00762, CLCHANNEL PR01115, CLCHANNEL4 |
SMARTi | View protein in SMART SM00116, CBS, 2 hits |
SUPFAMi | SSF54631, SSF54631, 1 hit SSF81340, SSF81340, 1 hit |
PROSITEi | View protein in PROSITE PS51371, CBS, 2 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | CLCN4_HUMAN | |
Accessioni | P51793Primary (citable) accession number: P51793 Secondary accession number(s): A1L3U1, B7Z5Z4, Q9UBU1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | February 11, 2002 | |
Last modified: | May 25, 2022 | |
This is version 183 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families