UniProtKB - P51793 (CLCN4_HUMAN)

BLAST

>sp|P51793|CLCN4_HUMAN H(+)/Cl(-) exchange transporter 4 OS=Homo sapiens OX=9606 GN=CLCN4 PE=1 SV=2
MVNAGAMSGSGNLMDFLDEPFPDVGTYEDFHTIDWLREKSRDTDRHRKITSKSKESIWEF
IKSLLDAWSGWVVMLLIGLLAGTLAGVIDLAVDWMTDLKEGVCLSAFWYSHEQCCWTSNE
TTFEDRDKCPLWQKWSELLVNQSEGASAYILNYLMYILWALLFAFLAVSLVRVFAPYACG
SGIPEIKTILSGFIIRGYLGKWTLLIKTVTLVLVVSSGLSLGKEGPLVHVACCCGNFFSS
LFSKYSKNEGKRREVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALV
AAFTLRSINPFGNSRLVLFYVEYHTPWYMAELFPFILLGVFGGLWGTLFIRCNIAWCRRR
KTTRLGKYPVLEVIVVTAITAIIAYPNPYTRQSTSELISELFNDCGALESSQLCDYINDP
NMTRPVDDIPDRPAGVGVYTAMWQLALALIFKIVVTIFTFGMKIPSGLFIPSMAVGAIAG
RMVGIGVEQLAYHHHDWIIFRNWCRPGADCVTPGLYAMVGAAACLGGVTRMTVSLVVIMF
ELTGGLEYIVPLMAAAVTSKWVADAFGKEGIYEAHIHLNGYPFLDVKDEFTHRTLATDVM
RPRRGEPPLSVLTQDSMTVEDVETLIKETDYNGFPVVVSRDSERLIGFAQRRELILAIKN
ARQRQEGIVSNSIMYFTEEPPELPANSPHPLKLRRILNLSPFTVTDHTPMETVVDIFRKL
GLRQCLVTRSGRLLGIITKKDVLRHMAQMANQDPESIMFN

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History
Entry version 162 (07 Nov 2018)
Sequence version 2 (11 Feb 2002)
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Protein

H(+)/Cl(-) exchange transporter 4

Gene

CLCN4

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons.2 Publications

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.

Sites

Feature key	Position(s)	DescriptionActions	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
Inferred from mutant phenotypeⁱ
- 23647072
ATP binding Source: UniProtKB-KW
chloride channel activity
Source: MGI
Inferred from direct assayⁱ
- 10564087
chloride ion binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
solute:proton antiporter activity
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
voltage-gated chloride channel activity
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

chloride transport
Source: MGI
Inferred from direct assayⁱ
- 10564087
ion transmembrane transport Source: Reactome

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Antiport, Ion transport, Transport
Ligand	ATP-binding, Chloride, Nucleotide-binding

Enzyme and pathway databases

Reactomeⁱ	R-HSA-2672351 Stimuli-sensing channels

Reactomeⁱ

R-HSA-2672351 Stimuli-sensing channels

Protein family/group databases

TCDBⁱ	2.A.49.2.8 the chloride carrier/channel (clc) family

TCDBⁱ

2.A.49.2.8 the chloride carrier/channel (clc) family

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: H(+)/Cl(-) exchange transporter 4 Alternative 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	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome X

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000073464.11
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:2022 CLCN4
MIMⁱ	302910 gene
neXtProtⁱ	NX_P51793

Topology

Feature key	Position(s)	DescriptionActions	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, Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Mental retardation, X-linked 49 (MRX49)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.

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 mutation, Mental retardation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	1183
MalaCards human disease database More...MalaCardsⁱ	CLCN4
MIMⁱ	300114 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000073464
Orphanetⁱ	485350 CLCN4-related X-linked intellectual disability syndrome 777 X-linked non-syndromic intellectual disability
PharmGKBⁱ	PA26549

Chemistry databases

IUPHAR/BPS Guide to PHARMACOLOGY More...GuidetoPHARMACOLOGYⁱ	703

GuidetoPHARMACOLOGYⁱ

703

Polymorphism and mutation 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

MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P51793
PaxDbⁱ	P51793
PeptideAtlas More...PeptideAtlasⁱ	P51793
PRIDEⁱ	P51793
ProteomicsDBⁱ	56390

PTM databases

iPTMnetⁱ	P51793
PhosphoSitePlusⁱ	P51793

Expressionⁱ

Tissue specificityⁱ

Abundant in skeletal muscle and also detectable in brain and heart.

Gene expression databases

Bgeeⁱ	ENSG00000073464 Expressed in 199 organ(s), highest expression level in Brodmann (1909) area 46
CleanExⁱ	HS_CLCN4
ExpressionAtlasⁱ	P51793 baseline and differential
Genevisibleⁱ	P51793 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA031313 HPA063637

HPAⁱ

HPA031313
HPA063637

Interactionⁱ

Protein-protein interaction databases

STRINGⁱ	9606.ENSP00000370213

STRINGⁱ

9606.ENSP00000370213

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	P51793
SMRⁱ	P51793
ModBaseⁱ	Search...
MobiDBⁱ	Search...

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

Motif

Feature key	Position(s)	DescriptionActions	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

Belongs to the chloride channel (TC 2.A.49) family. ClC-4/CLCN4 subfamily. [View classification]Curated

Keywords - Domainⁱ

CBS domain, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG0475 Eukaryota COG0038 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000119109
HOGENOMⁱ	HOG000164493
HOVERGENⁱ	HBG050984
InParanoidⁱ	P51793
KEGG Orthology (KO) More...KOⁱ	K05012
OMAⁱ	WYSSFTS
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G01YH
PhylomeDBⁱ	P51793
TreeFamⁱ	TF313867

Family and domain databases

Gene3Dⁱ	1.10.3080.10, 1 hit
InterProⁱ	View protein in InterPro IPR000644 CBS_dom IPR014743 Cl-channel_core IPR001807 Cl-channel_volt-gated IPR002246 Cl_channel-4
PANTHERⁱ	PTHR11689:SF18 PTHR11689:SF18, 1 hit
Pfam protein domain database More...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	SSF81340 SSF81340, 1 hit
PROSITEⁱ	View protein in PROSITE PS51371 CBS, 2 hits

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: P51793-1) [UniParc]FASTA Add 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
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

Length:760

Mass (Da):84,917

Last modified:February 11, 2002 - v2

Checksum:ⁱ3A5A25D1FEF3F217

Isoform 2 (identifier: P51793-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-94: Missing.

« Hide

        10         20         30         40         50
MTDLKEGVCL SAFWYSHEQC CWTSNETTFE DRDKCPLWQK WSELLVNQSE 
        60         70         80         90        100
GASAYILNYL MYILWALLFA FLAVSLVRVF APYACGSGIP EIKTILSGFI 
       110        120        130        140        150
IRGYLGKWTL LIKTVTLVLV VSSGLSLGKE GPLVHVACCC GNFFSSLFSK 
       160        170        180        190        200
YSKNEGKRRE VLSAAAAAGV SVAFGAPIGG VLFSLEEVSY YFPLKTLWRS 
       210        220        230        240        250
FFAALVAAFT LRSINPFGNS RLVLFYVEYH TPWYMAELFP FILLGVFGGL 
       260        270        280        290        300
WGTLFIRCNI AWCRRRKTTR LGKYPVLEVI VVTAITAIIA YPNPYTRQST 
       310        320        330        340        350
SELISELFND CGALESSQLC DYINDPNMTR PVDDIPDRPA GVGVYTAMWQ 
       360        370        380        390        400
LALALIFKIV VTIFTFGMKI PSGLFIPSMA VGAIAGRMVG IGVEQLAYHH 
       410        420        430        440        450
HDWIIFRNWC RPGADCVTPG LYAMVGAAAC LGGVTRMTVS LVVIMFELTG 
       460        470        480        490        500
GLEYIVPLMA AAVTSKWVAD AFGKEGIYEA HIHLNGYPFL DVKDEFTHRT 
       510        520        530        540        550
LATDVMRPRR GEPPLSVLTQ DSMTVEDVET LIKETDYNGF PVVVSRDSER 
       560        570        580        590        600
LIGFAQRREL ILAIKNARQR QEGIVSNSIM YFTEEPPELP ANSPHPLKLR 
       610        620        630        640        650
RILNLSPFTV TDHTPMETVV DIFRKLGLRQ CLVTRSGRLL GIITKKDVLR 
       660 
HMAQMANQDP ESIMFN

Note: No experimental confirmation available.

Show »

Length:666

Mass (Da):74,347

Checksum:ⁱ4A8ACB4F7865A5C8

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

G3XAG5	G3XAG5_HUMAN	Chloride channel protein Chloride channel protein	CLCN4 hCG_401215	729	Annotation score:
E9PFB5	E9PFB5_HUMAN	H(+)/Cl(-) exchange transporter 4 H(+)/Cl(-) exchange transporter 4	CLCN4	152	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	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	Length
Natural variantⁱVAR_077819	78	G → S in MRX49; marked reduction in outwardly-rectifying currents. 1 Publication	1
Natural variantⁱVAR_077820	221	L → V in MRX49; marked reduction in outwardly-rectifying currents. 1 Publication	1
Natural variantⁱVAR_077821	536	V → M in MRX49; marked reduction in outwardly-rectifying currents. 1 Publication	1
Natural variantⁱVAR_077822	544	G → R in MRX49; has normal localization to structures resembling endoplasmic reticulum membranes; almost abolishes the outwardly-rectifying currents. 1 PublicationCorresponds to variant dbSNP:rs587777161EnsemblClinVar.	1
Natural variantⁱVAR_077823	731	G → R in MRX49; marked reduction in outwardly-rectifying currents. 1 Publication	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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS14137.1 [P51793-1] CCDS59159.1 [P51793-2]
PIRⁱ	I37242
NCBI Reference Sequences More...RefSeqⁱ	NP_001243873.1, NM_001256944.1 [P51793-2] NP_001821.2, NM_001830.3 [P51793-1]
UniGeneⁱ	Hs.495674

Genome annotation databases

Ensemblⁱ	ENST00000380833; ENSP00000370213; ENSG00000073464 [P51793-1] ENST00000421085; ENSP00000405754; ENSG00000073464 [P51793-2]
GeneIDⁱ	1183
KEGGⁱ	hsa:1183
UCSC genome browser More...UCSCⁱ	uc004csy.5 human [P51793-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
P51793	Chloride channel protein		CALJA		760	UniRef100_P51793
Chloride channel protein		PANTR		760
Chloride channel protein		PONAB		760
Chloride channel protein		SAIBB		760
Chloride channel protein		COLAP		760
+7
P51793-2	Chloride channel protein		NOMLE		760	UniRef100_G1RCA5
Chloride channel protein		PONAB		666
Chloride channel protein		PANTR		666
UPI00062AAACA		NOMLE		796

Protein	Similar proteins		Species	Score	Length	Source
P51793	H(+)/Cl(-) exchange transporter 4		MOUSE		747	UniRef90_P51793
Chloride channel protein		CALJA		760
Chloride channel protein		PANTR		760
Chloride channel protein		PONAB		760
Chloride channel protein		SAIBB		760
+229

Protein	Similar proteins		Species	Score	Length	Source
P51793	H(+)/Cl(-) exchange transporter 4		MOUSE		747	UniRef50_P51793
Chloride channel protein		CALJA		760
Chloride channel protein		PANTR		760
Chloride channel protein		PONAB		760
Chloride channel protein		SAIBB		760
+310

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]
UniGeneⁱ	Hs.495674

3D structure databases

ProteinModelPortalⁱ	P51793
SMRⁱ	P51793
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

STRINGⁱ	9606.ENSP00000370213

STRINGⁱ

9606.ENSP00000370213

Chemistry databases

GuidetoPHARMACOLOGYⁱ	703

GuidetoPHARMACOLOGYⁱ

703

Protein family/group databases

TCDBⁱ	2.A.49.2.8 the chloride carrier/channel (clc) family

TCDBⁱ

2.A.49.2.8 the chloride carrier/channel (clc) family

PTM databases

iPTMnetⁱ	P51793
PhosphoSitePlusⁱ	P51793

Polymorphism and mutation databases

BioMutaⁱ	CLCN4
DMDMⁱ	20141247

Proteomic databases

MaxQBⁱ	P51793
PaxDbⁱ	P51793
PeptideAtlasⁱ	P51793
PRIDEⁱ	P51793
ProteomicsDBⁱ	56390

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	1183
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000380833; ENSP00000370213; ENSG00000073464 [P51793-1] ENST00000421085; ENSP00000405754; ENSG00000073464 [P51793-2]
GeneIDⁱ	1183
KEGGⁱ	hsa:1183
UCSCⁱ	uc004csy.5 human [P51793-1]

Organism-specific databases

CTDⁱ	1183
DisGeNETⁱ	1183
EuPathDBⁱ	HostDB:ENSG00000073464.11
GeneCardsⁱ	CLCN4
H-InvDBⁱ	HIX0056096
HGNCⁱ	HGNC:2022 CLCN4
HPAⁱ	HPA031313 HPA063637
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
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0475 Eukaryota COG0038 LUCA
GeneTreeⁱ	ENSGT00760000119109
HOGENOMⁱ	HOG000164493
HOVERGENⁱ	HBG050984
InParanoidⁱ	P51793
KOⁱ	K05012
OMAⁱ	WYSSFTS
OrthoDBⁱ	EOG091G01YH
PhylomeDBⁱ	P51793
TreeFamⁱ	TF313867

Enzyme and pathway databases

Reactomeⁱ	R-HSA-2672351 Stimuli-sensing channels

Reactomeⁱ

R-HSA-2672351 Stimuli-sensing channels

Miscellaneous databases

ChiTaRSⁱ	CLCN4 human
GeneWikiⁱ	CLCN4
GenomeRNAiⁱ	1183
Protein Ontology More...PROⁱ	PR:P51793
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000073464 Expressed in 199 organ(s), highest expression level in Brodmann (1909) area 46
CleanExⁱ	HS_CLCN4
ExpressionAtlasⁱ	P51793 baseline and differential
Genevisibleⁱ	P51793 HS

Family and domain databases

Gene3Dⁱ	1.10.3080.10, 1 hit
InterProⁱ	View protein in InterPro IPR000644 CBS_dom IPR014743 Cl-channel_core IPR001807 Cl-channel_volt-gated IPR002246 Cl_channel-4
PANTHERⁱ	PTHR11689:SF18 PTHR11689:SF18, 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	SSF81340 SSF81340, 1 hit
PROSITEⁱ	View protein in PROSITE PS51371 CBS, 2 hits
ProtoNetⁱ	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:	November 7, 2018
	This is version 162 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

Complete proteome, Reference proteome

Documents

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

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UniProtKB - P51793 (CLCN4_HUMAN)

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H(+)/Cl(-) exchange transporter 4

CLCN4

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Miscellaneous

Sites

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Protein family/group databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Endoplasmic reticulum

Endosome

Endoplasmic reticulum

Endosome

Golgi apparatus

Plasma Membrane

Topology

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Keywords - Diseasei

Organism-specific databases

Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Region

Motif

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

Protein family/group databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ