Protein

Solute carrier family 22 member 5

Gene

SLC22A5

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3.1 Publication

Miscellaneous

Inhibited by emetine, quinidine and verapamil. The IC₅₀ of emetine is 4.2 µM. Not inhibited by valproic acid.

Regions

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Nucleotide bindingⁱ	218 – 225	ATPSequence analysis		8

GO - Molecular functionⁱ

ATP binding Source: UniProtKB-KW
carnitine transmembrane transporter activity
Source: BHF-UCL
Inferred from direct assayⁱ
- 9685390
cation:cation antiporter activity Source: GO_Central
drug transmembrane transporter activity
Source: BHF-UCL
Inferred by curatorⁱ
- 15238359
organic anion transmembrane transporter activity Source: GO_Central
PDZ domain binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 15523054
quaternary ammonium group transmembrane transporter activity
Source: BHF-UCL
Inferred from direct assayⁱ
- 9618255
symporter activity Source: UniProtKB-KW

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

carnitine metabolic process Source: GO_Central
carnitine transmembrane transport Source: Reactome
carnitine transport
Source: BHF-UCL
Inferred from direct assayⁱ
- 9685390
drug transport
Source: BHF-UCL
Inferred by curatorⁱ
- 15238359
positive regulation of intestinal epithelial structure maintenance
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 18005709
quaternary ammonium group transport
Source: BHF-UCL
Inferred from direct assayⁱ
- 9618255
quorum sensing involved in interaction with host
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 18005709
sodium-dependent organic cation transport
Source: BHF-UCL
Inferred from direct assayⁱ
- 15238359
- 9685390
sodium ion transport Source: UniProtKB-KW

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Ion transport, Sodium transport, Symport, Transport
Ligand	ATP-binding, Nucleotide-binding, Sodium

Enzyme and pathway databases

Reactomeⁱ	R-HSA-200425 Import of palmitoyl-CoA into the mitochondrial matrix R-HSA-549127 Organic cation transport R-HSA-5619053 Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)

Reactomeⁱ

R-HSA-200425 Import of palmitoyl-CoA into the mitochondrial matrix
R-HSA-549127 Organic cation transport
R-HSA-5619053 Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)

Protein family/group databases

TCDBⁱ	2.A.1.19.3 the major facilitator superfamily (mfs)

TCDBⁱ

2.A.1.19.3 the major facilitator superfamily (mfs)

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Solute carrier family 22 member 5 Alternative name(s): High-affinity sodium-dependent carnitine cotransporter Organic cation/carnitine transporter 2
Gene namesⁱ	Name:SLC22A5 Synonyms:OCTN2
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 5

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000197375.12
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:10969 SLC22A5
MIMⁱ	603377 gene
neXtProtⁱ	NX_O76082

Topology

Feature key	Position(s)	DescriptionActions	Length
Topological domainⁱ	1 – 20	CytoplasmicSequence analysisAdd BLAST	20
Transmembraneⁱ	21 – 41	Helical; Name=1Sequence analysisAdd BLAST	21
Topological domainⁱ	42 – 142	ExtracellularSequence analysisAdd BLAST	101
Transmembraneⁱ	143 – 163	Helical; Name=2Sequence analysisAdd BLAST	21
Topological domainⁱ	164 – 172	CytoplasmicSequence analysis	9
Transmembraneⁱ	173 – 193	Helical; Name=3Sequence analysisAdd BLAST	21
Topological domainⁱ	194 – 197	ExtracellularSequence analysis	4
Transmembraneⁱ	198 – 218	Helical; Name=4Sequence analysisAdd BLAST	21
Topological domainⁱ	219 – 232	CytoplasmicSequence analysisAdd BLAST	14
Transmembraneⁱ	233 – 253	Helical; Name=5Sequence analysisAdd BLAST	21
Topological domainⁱ	254 – 257	ExtracellularSequence analysis	4
Transmembraneⁱ	258 – 278	Helical; Name=6Sequence analysisAdd BLAST	21
Topological domainⁱ	279 – 341	CytoplasmicSequence analysisAdd BLAST	63
Transmembraneⁱ	342 – 362	Helical; Name=7Sequence analysisAdd BLAST	21
Topological domainⁱ	363 – 373	ExtracellularSequence analysisAdd BLAST	11
Transmembraneⁱ	374 – 394	Helical; Name=8Sequence analysisAdd BLAST	21
Topological domainⁱ	395 – 406	CytoplasmicSequence analysisAdd BLAST	12
Transmembraneⁱ	407 – 427	Helical; Name=9Sequence analysisAdd BLAST	21
Topological domainⁱ	428 – 430	ExtracellularSequence analysis	3
Transmembraneⁱ	431 – 451	Helical; Name=10Sequence analysisAdd BLAST	21
Topological domainⁱ	452 – 462	CytoplasmicSequence analysisAdd BLAST	11
Transmembraneⁱ	463 – 483	Helical; Name=11Sequence analysisAdd BLAST	21
Topological domainⁱ	484 – 488	ExtracellularSequence analysis	5
Transmembraneⁱ	489 – 509	Helical; Name=12Sequence analysisAdd BLAST	21

Keywords - Cellular componentⁱ

Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Systemic primary carnitine deficiency (CDSP)18 Publications

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

Disease descriptionAutosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. Present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal myopathy or cardiomyopathy.

See also OMIM:212140

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_079640	4 – 557	Missing in CDSP. 1 PublicationAdd BLAST	554
Natural variantⁱVAR_064109	12	G → S in CDSP; unknown pathological significance; reduces carnitine transport but the mutant retains 50% of wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs139203363EnsemblClinVar.	1
Natural variantⁱVAR_064110	15	G → W in CDSP; carnitine transport reduced to less than 20% of wild-type. 4 PublicationsCorresponds to variant dbSNP:rs267607052EnsemblClinVar.	1
Natural variantⁱVAR_079641	16	P → L in CDSP; loss of carnitine transport. 1 Publication	1
Natural variantⁱVAR_020347	17	F → L in CDSP; carnitine transport reduced to less than 20% of wild-type. 4 PublicationsCorresponds to variant dbSNP:rs11568520EnsemblClinVar.	1
Natural variantⁱVAR_064111	19	R → P in CDSP; carnitine transport is reduced to less than 5% of normal. 4 PublicationsCorresponds to variant dbSNP:rs72552723EnsemblClinVar.	1
Natural variantⁱVAR_079642	20	L → H in CDSP; unknown pathological significance; reduces carnitine transport but the mutant retains 50% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs144020613EnsemblClinVar.	1
Natural variantⁱVAR_066842	22	Missing in CDSP; reduces carnitine transport to less than 1% of normal. 2 Publications	1
Natural variantⁱVAR_066843	26	S → N in CDSP; carnitine transport reduced to less than 6% of wild-type. 2 PublicationsCorresponds to variant dbSNP:rs772578415EnsemblClinVar.	1
Natural variantⁱVAR_079643	28	S → I in CDSP; carnitine transport reduced to 1% of wild-type. 1 PublicationCorresponds to variant dbSNP:rs72552724EnsemblClinVar.	1
Natural variantⁱVAR_064112	32	N → S in CDSP; carnitine transport reduced to less than 1% of wild-type. 4 PublicationsCorresponds to variant dbSNP:rs72552725EnsemblClinVar.	1
Natural variantⁱVAR_079644	44	A → V in CDSP; carnitine transport reduced to less than 10% of wild-type. 1 PublicationCorresponds to variant dbSNP:rs199689597Ensembl.	1
Natural variantⁱVAR_079645	46	P → L in CDSP; carnitine transport reduced to less than 5% of wild-type. 1 PublicationCorresponds to variant dbSNP:rs377767445EnsemblClinVar.	1
Natural variantⁱVAR_064113	46	P → S in CDSP; carnitine transport is reduced to less than 5% of normal. 5 PublicationsCorresponds to variant dbSNP:rs202088921EnsemblClinVar.	1
Natural variantⁱVAR_079646	50	C → Y in CDSP; loss of carnitine transport. 1 Publication	1
Natural variantⁱVAR_064114	66	T → P in CDSP; carnitine transport reduced to 2% of wild-type. 2 Publications	1
Natural variantⁱVAR_064115	75	R → P in CDSP; carnitine transport reduced to 2% of wild-type. 2 PublicationsCorresponds to variant dbSNP:rs757711838Ensembl.	1
Natural variantⁱVAR_064116	83	R → L in CDSP; loss of carnitine transport. 6 PublicationsCorresponds to variant dbSNP:rs72552726EnsemblClinVar.	1
Natural variantⁱVAR_079647	93	S → W in CDSP; loss of carnitine transport. 1 PublicationCorresponds to variant dbSNP:rs386134190EnsemblClinVar.	1
Natural variantⁱVAR_079648	95	L → V in CDSP; unknown pathological significance; reduces carnitine transport but the mutant retains 30% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs386134191EnsemblClinVar.	1
Natural variantⁱVAR_064117	96	G → A in CDSP; carnitine transport reduced to 20% of wild-type. 2 PublicationsCorresponds to variant dbSNP:rs377767450EnsemblClinVar.	1
Natural variantⁱVAR_079649	115	D → G in CDSP; carnitine transport reduced to less than 5% of wild-type. 1 PublicationCorresponds to variant dbSNP:rs386134192EnsemblClinVar.	1
Natural variantⁱVAR_079650	117 – 557	Missing in CDSP. 1 PublicationAdd BLAST	441
Natural variantⁱVAR_064118	122	D → Y in CDSP. 1 PublicationCorresponds to variant dbSNP:rs201082652EnsemblClinVar.	1
Natural variantⁱVAR_064119	123	V → G in CDSP; carnitine transport reduced to less than 20% of wild-type. 2 PublicationsCorresponds to variant dbSNP:rs748605096Ensembl.	1
Natural variantⁱVAR_079651	131	E → D in CDSP; may affect splicing; unknown pathological significance; reduces carnitine transport but the mutant retains 30% of wild-type activity. 1 Publication	1
Natural variantⁱVAR_079652	132 – 557	Missing in CDSP. 1 PublicationAdd BLAST	426
Natural variantⁱVAR_079653	140 – 557	Missing in CDSP. 1 PublicationAdd BLAST	418
Natural variantⁱVAR_064120	142	A → S in CDSP; unknown pathological significance; reduces carnitine transport but the mutant retains more than 25% of wild-type activity. 4 PublicationsCorresponds to variant dbSNP:rs151231558EnsemblClinVar.	1
Natural variantⁱVAR_064121	143	P → L in CDSP; carnitine transport reduced to less than 2% of wild-type. 3 Publications	1
Natural variantⁱVAR_079654	151	V → M in CDSP; unknown pathological significance; reduces carnitine transport but the mutant retains more than 60% of wild-type activiy. 1 PublicationCorresponds to variant dbSNP:rs386134193EnsemblClinVar.	1
Natural variantⁱVAR_079655	169	R → P in CDSP; loss of carnitine transport. 1 Publication	1
Natural variantⁱVAR_009252	169	R → Q in CDSP; loss of carnitine transport. 4 PublicationsCorresponds to variant dbSNP:rs121908889EnsemblClinVar.	1
Natural variantⁱVAR_064122	169	R → W in CDSP; loss of carnitine transport. 5 PublicationsCorresponds to variant dbSNP:rs121908890EnsemblClinVar.	1
Natural variantⁱVAR_079656	175	V → M in CDSP; carnitine transport reduced to less than 10% of wild-type. 1 PublicationCorresponds to variant dbSNP:rs781721860EnsemblClinVar.	1
Natural variantⁱVAR_064123	177	M → V in CDSP; carnitine transport reduced to less than 20% of wild-type. 2 PublicationsCorresponds to variant dbSNP:rs145068530EnsemblClinVar.	1
Natural variantⁱVAR_022564	179	M → L in CDSP; unknown pathological significance; reduces carnitine transport but the mutant retains more than 40% of wild-type activiy. 2 PublicationsCorresponds to variant dbSNP:rs386134196EnsemblClinVar.	1
Natural variantⁱVAR_064124	186	L → P in CDSP; loss of carnitine transport. 2 PublicationsCorresponds to variant dbSNP:rs386134197EnsemblClinVar.	1
Natural variantⁱVAR_079657	205	M → R in CDSP; loss of carnitine transport. 1 Publication	1
Natural variantⁱVAR_079658	210	N → S in CDSP; loss of carnitine transport. 1 PublicationCorresponds to variant dbSNP:rs386134198EnsemblClinVar.	1
Natural variantⁱVAR_009253	211	Y → C in CDSP; loss of carnitine transport. 2 PublicationsCorresponds to variant dbSNP:rs121908888EnsemblClinVar.	1
Natural variantⁱVAR_064125	214	A → V in CDSP; unknown pathological significance; reduces carnitine transport but the mutant retains 30% of wild-type activity. 4 PublicationsCorresponds to variant dbSNP:rs386134199EnsemblClinVar.	1
Natural variantⁱVAR_079659	219	T → K in CDSP; unknown pathological significance; reduces carnitine transport but the mutant retains 30% of wild-type activity. 1 Publication	1
Natural variantⁱVAR_079660	225	S → L in CDSP; reduces carnitine transport to less than 20% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs386134205EnsemblClinVar.	1
Natural variantⁱVAR_064126	227	R → H in CDSP; reduces carnitine transport to less than 10% of wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs185551386EnsemblClinVar.	1
Natural variantⁱVAR_064127	230	F → L in CDSP; reduces carnitine transport to less than 1% of wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs756650860EnsemblClinVar.	1
Natural variantⁱVAR_079661	231	S → F in CDSP; loss of carnitine transport. 1 PublicationCorresponds to variant dbSNP:rs386134206EnsemblClinVar.	1
Natural variantⁱVAR_064128	232	T → M in CDSP; reduces carnitine transport to less than 20% of wild-type activity. 5 PublicationsCorresponds to variant dbSNP:rs114269482EnsemblClinVar.	1
Natural variantⁱVAR_064129	234	G → R in CDSP. 1 Publication	1
Natural variantⁱVAR_064130	240	A → T in CDSP; reduces carnitine transport to less than 2% of wild-type activity. 2 Publications	1
Natural variantⁱVAR_064131	242	G → V in CDSP; loss of carnitine transport. 3 PublicationsCorresponds to variant dbSNP:rs72552728EnsemblClinVar.	1
Natural variantⁱVAR_079662	247	P → R in CDSP; loss of carnitine transport. 1 Publication	1
Natural variantⁱVAR_079663	254 – 557	Missing in CDSP. 1 PublicationAdd BLAST	304
Natural variantⁱVAR_079664	254	R → Q in CDSP; unknown pathological significance; reduces carnitine transport but the mutant retains more than 30% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs200699819EnsemblClinVar.	1
Natural variantⁱVAR_079665	256 – 557	Missing in CDSP. 1 PublicationAdd BLAST	302
Natural variantⁱVAR_064132	257	R → W in CDSP; reduces carnitine transport to less than 10% of wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs386134203EnsemblClinVar.	1
Natural variantⁱVAR_079666	264	T → M in CDSP; unknown pathological significance; reduces carnitine transport but the mutant retains more than 40% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs201262157EnsemblClinVar.	1
Natural variantⁱVAR_064133	264	T → R in CDSP; reduces carnitine transport to less than 5% of wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs201262157EnsemblClinVar.	1
Natural variantⁱVAR_079667	269	L → P in CDSP; unknown pathological significance; reduces carnitine transport but the mutant retains more than 40% of wild-type activity. 1 Publication	1
Natural variantⁱVAR_079668	275 – 557	Missing in CDSP. 1 PublicationAdd BLAST	283
Natural variantⁱVAR_066844	280	S → F in CDSP; reduces carnitine transport to less than 1% of wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs386134208EnsemblClinVar.	1
Natural variantⁱVAR_079669	282 – 557	Missing in CDSP. 1 PublicationAdd BLAST	276
Natural variantⁱVAR_064134	282	R → Q in CDSP; reduces carnitine transport to 5% of wild-type activity. 4 PublicationsCorresponds to variant dbSNP:rs386134210EnsemblClinVar.	1
Natural variantⁱVAR_022565	283	W → C in CDSP; loss of carnitine transport. 2 PublicationsCorresponds to variant dbSNP:rs386134211EnsemblClinVar.	1
Natural variantⁱVAR_009254	283	W → R in CDSP; reduces carnitine transport to less than 1% of wild-type activity. 3 PublicationsCorresponds to variant dbSNP:rs72552729EnsemblClinVar.	1
Natural variantⁱVAR_079670	289 – 557	Missing in CDSP. 1 PublicationAdd BLAST	269
Natural variantⁱVAR_079671	295 – 557	Missing in CDSP. 1 PublicationAdd BLAST	263
Natural variantⁱVAR_064135	301	A → D in CDSP; reduces carnitine transport to less-than-1% to 3% of wild-type activity. 3 PublicationsCorresponds to variant dbSNP:rs72552730EnsemblClinVar.	1
Natural variantⁱVAR_064136	312	I → V in CDSP; unknown pathological significance; reduces carnitine transport but the mutant retains 70% of wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs77300588EnsemblClinVar.	1
Natural variantⁱVAR_079672	317	E → K in CDSP; unknown pathological significance; no effect on carnitine transport. 1 PublicationCorresponds to variant dbSNP:rs774792831Ensembl.	1
Natural variantⁱVAR_079673	319 – 557	Missing in CDSP. 1 PublicationAdd BLAST	239
Natural variantⁱVAR_079674	348	I → T in CDSP; unknown pathological significance; reduces carnitine transport but the mutant retains 60% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs150544263EnsemblClinVar.	1
Natural variantⁱVAR_064137	351	W → R in CDSP; loss of carnitine transport. 4 PublicationsCorresponds to variant dbSNP:rs68018207EnsemblClinVar.	1
Natural variantⁱVAR_064138	355	S → L in CDSP; reduces carnitine transport to less than 2% of wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs1385634398Ensembl.	1
Natural variantⁱVAR_064139	358	Y → N in CDSP; loss of carnitine transport. 2 PublicationsCorresponds to variant dbSNP:rs61731073Ensembl.	1
Natural variantⁱVAR_064140	362	S → L in CDSP. 1 PublicationCorresponds to variant dbSNP:rs886042092EnsemblClinVar.	1
Natural variantⁱVAR_079675	363	L → P in CDSP; loss of carnitine transport. 1 PublicationCorresponds to variant dbSNP:rs386134214EnsemblClinVar.	1
Natural variantⁱVAR_079676	387 – 557	Missing in CDSP. 1 PublicationAdd BLAST	171
Natural variantⁱVAR_079677	394	Missing in CDSP; reduces carnitine transport to 5% of wild-type activity. 1 Publication	1
Natural variantⁱVAR_064141	398	P → L in CDSP; reduces carnitine transport to less than 1% of wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs144547521EnsemblClinVar.	1
Natural variantⁱVAR_064142	399	R → Q in CDSP; carnitine transport is reduced to less than 1% of normal. 3 PublicationsCorresponds to variant dbSNP:rs121908891EnsemblClinVar.	1
Natural variantⁱVAR_064143	399	R → W in CDSP; reduces carnitine transport to less than 5% of wild-type activity. 3 PublicationsCorresponds to variant dbSNP:rs267607054EnsemblClinVar.	1
Natural variantⁱVAR_079678	412	S → G in CDSP; unknown pathological significance; no effect on carnitine transport. 1 Publication	1
Natural variantⁱVAR_079679	439	V → G in CDSP; reduces carnitine transport to less than 1% of wild-type activity. 1 Publication	1
Natural variantⁱVAR_064144	440	T → M in CDSP; loss of carnitine transport. 3 PublicationsCorresponds to variant dbSNP:rs72552732EnsemblClinVar.	1
Natural variantⁱVAR_064145	442	A → I in CDSP; requires 2 nucleotide substitutions; reduces carnitine transport to less than 20% of wild-type activity. 4 PublicationsCorresponds to variant dbSNP:rs267607053EnsemblClinVar.	1
Natural variantⁱVAR_064146	443	F → V in CDSP; reduces carnitine transport to less than 1% of wild-type. 2 Publications	1
Natural variantⁱVAR_009255	446	V → F in CDSP; reduces carnitine transport to less than 1% of wild-type. 3 PublicationsCorresponds to variant dbSNP:rs72552733EnsemblClinVar.	1
Natural variantⁱVAR_064147	447	Y → C in CDSP; loss of carnitine transport. 3 PublicationsCorresponds to variant dbSNP:rs386134218EnsemblClinVar.	1
Natural variantⁱVAR_079680	448	V → L in CDSP; reduces carnitine transport to less than 20% of wild-type. 1 PublicationCorresponds to variant dbSNP:rs386134219EnsemblClinVar.	1
Natural variantⁱVAR_029315	449	Y → D in CDSP; unknown pathological significance; reduces carnitine transport to less than 20% of wild-type. 4 PublicationsCorresponds to variant dbSNP:rs11568514EnsemblClinVar.	1
Natural variantⁱVAR_009256	452	E → K in CDSP; reduces carnitine transport to less than 5% of wild-type. 4 PublicationsCorresponds to variant dbSNP:rs72552734EnsemblClinVar.	1
Natural variantⁱVAR_064148	455	P → R in CDSP; loss of carnitine transport. 2 Publications	1
Natural variantⁱVAR_079681	462	G → V in CDSP; reduces carnitine transport to less than 5% of wild-type. 1 Publication	1
Natural variantⁱVAR_022566	467	S → C in CDSP; reduces carnitine transport to less than 20% of wild-type activity. 6 PublicationsCorresponds to variant dbSNP:rs60376624EnsemblClinVar.	1
Natural variantⁱVAR_064149	468	T → R in CDSP; markedly reduced carnitine transport compared to the wild-type protein; less than 1% of wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs386134221EnsemblClinVar.	1
Natural variantⁱVAR_079682	470	S → F in CDSP; loss of carnitine transport. 1 PublicationCorresponds to variant dbSNP:rs386134222EnsemblClinVar.	1
Natural variantⁱVAR_064150	471	R → C in CDSP. 1 PublicationCorresponds to variant dbSNP:rs749282641EnsemblClinVar.	1
Natural variantⁱVAR_079683	471	R → H in CDSP; reduces carnitine transport to less than 2% of wild-type. 1 PublicationCorresponds to variant dbSNP:rs386134223EnsemblClinVar.	1
Natural variantⁱVAR_066845	471	R → P in CDSP; loss of carnitine transport. 2 Publications	1
Natural variantⁱVAR_079684	476	L → R in CDSP; loss of carnitine transport. 1 Publication	1
Natural variantⁱVAR_009257	478	P → L in CDSP; loss of carnitine transport but stimulated organic cation transport. 3 PublicationsCorresponds to variant dbSNP:rs72552735EnsemblClinVar.	1
Natural variantⁱVAR_064151	488	R → C in CDSP; reduces carnitine transport to less than 10% of wild-type. 3 PublicationsCorresponds to variant dbSNP:rs377216516EnsemblClinVar.	1
Natural variantⁱVAR_066846	488	R → H in CDSP; unknown pathological significance; reduces carnitine transport to 40% of wild-type. 2 PublicationsCorresponds to variant dbSNP:rs28383481EnsemblClinVar.	1
Natural variantⁱVAR_064152	507	L → S in CDSP; reduces carnitine transport to 5% of wild-type. 2 Publications	1

Mutagenesis

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Mutagenesisⁱ	352	M → R: Loss of both carnitine and organic cation transport functionalities. 1 Publication		1

Keywords - Diseaseⁱ

Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	6584
GeneReviewsⁱ	SLC22A5
MalaCards human disease database More...MalaCardsⁱ	SLC22A5
MIMⁱ	212140 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000197375
Orphanetⁱ	158 Systemic primary carnitine deficiency
PharmGKBⁱ	PA333

Chemistry databases

ChEMBLⁱ	CHEMBL2073693
Drug and drug target database More...DrugBankⁱ	DB08842 Acetylcarnitine DB03128 Acetylcholine DB04630 Aldosterone DB00345 Aminohippuric acid DB00182 Amphetamine DB00415 Ampicillin DB08795 Azidocillin DB01053 Benzylpenicillin DB01140 Cefadroxil DB00456 Cefalotin DB00535 Cefdinir DB01413 Cefepime DB00671 Cefixime DB01333 Cefradine DB00438 Ceftazidime DB00567 Cephalexin DB00689 Cephaloglycin DB00122 Choline DB00501 Cimetidine DB00575 Clonidine DB00148 Creatine DB01000 Cyclacillin DB00970 Dactinomycin DB04133 Degraded Cephaloridine DB01151 Desipramine DB01075 Diphenhydramine DB00988 Dopamine DB00668 Epinephrine DB00695 Furosemide DB00365 Grepafloxacin DB00536 Guanidine DB05381 Histamine DB00332 Ipratropium bromide DB00125 L-Arginine DB00583 L-Carnitine DB00281 Lidocaine DB00978 Lomefloxacin DB06691 Mepyramine DB01577 Methamphetamine DB00627 Niacin DB00184 Nicotine DB00368 Norepinephrine DB01059 Norfloxacin DB01165 Ofloxacin DB01032 Probenecid DB01035 Procainamide DB00908 Quinidine DB00468 Quinine DB01208 Sparfloxacin DB08837 Tetraethylammonium DB00152 Thiamine DB01409 Tiotropium DB00313 Valproic Acid DB00661 Verapamil

ChEMBLⁱ

CHEMBL2073693

DrugBankⁱ

DB08842 Acetylcarnitine
DB03128 Acetylcholine
DB04630 Aldosterone
DB00345 Aminohippuric acid
DB00182 Amphetamine
DB00415 Ampicillin
DB08795 Azidocillin
DB01053 Benzylpenicillin
DB01140 Cefadroxil
DB00456 Cefalotin
DB00535 Cefdinir
DB01413 Cefepime
DB00671 Cefixime
DB01333 Cefradine
DB00438 Ceftazidime
DB00567 Cephalexin
DB00689 Cephaloglycin
DB00122 Choline
DB00501 Cimetidine
DB00575 Clonidine
DB00148 Creatine
DB01000 Cyclacillin
DB00970 Dactinomycin
DB04133 Degraded Cephaloridine
DB01151 Desipramine
DB01075 Diphenhydramine
DB00988 Dopamine
DB00668 Epinephrine
DB00695 Furosemide
DB00365 Grepafloxacin
DB00536 Guanidine
DB05381 Histamine
DB00332 Ipratropium bromide
DB00125 L-Arginine
DB00583 L-Carnitine
DB00281 Lidocaine
DB00978 Lomefloxacin
DB06691 Mepyramine
DB01577 Methamphetamine
DB00627 Niacin
DB00184 Nicotine
DB00368 Norepinephrine
DB01059 Norfloxacin
DB01165 Ofloxacin
DB01032 Probenecid
DB01035 Procainamide
DB00908 Quinidine
DB00468 Quinine
DB01208 Sparfloxacin
DB08837 Tetraethylammonium
DB00152 Thiamine
DB01409 Tiotropium
DB00313 Valproic Acid
DB00661 Verapamil

Polymorphism and mutation databases

BioMutaⁱ	SLC22A5

BioMutaⁱ

SLC22A5

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000220500	1 – 557	Solute carrier family 22 member 5Add BLAST		557

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Glycosylationⁱ	57	N-linked (GlcNAc...) asparagine1 Publication	1
Glycosylationⁱ	64	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	91	N-linked (GlcNAc...) asparagine1 Publication	1
Modified residueⁱ	486	PhosphotyrosineCombined sources	1
Modified residueⁱ	550	PhosphothreonineCombined sources	1

Keywords - PTMⁱ

Glycoprotein, Phosphoprotein

Proteomic databases

EPDⁱ	O76082
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	O76082
PaxDbⁱ	O76082
PeptideAtlas More...PeptideAtlasⁱ	O76082
PRIDEⁱ	O76082
ProteomicsDBⁱ	50388 50389 [O76082-2] 50390 [O76082-3]

PTM databases

iPTMnetⁱ	O76082
PhosphoSitePlusⁱ	O76082

Expressionⁱ

Tissue specificityⁱ

Strongly expressed in kidney, skeletal muscle, heart and placenta. Highly expressed in intestinal cell types affected by Crohn disease, including epithelial cells. Expressed in CD68 macrophage and CD43 T-cells but not in CD20 B-cells.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000197375 Expressed in 189 organ(s), highest expression level in oviduct epithelium
CleanExⁱ	HS_SLC22A5
ExpressionAtlasⁱ	O76082 baseline and differential
Genevisibleⁱ	O76082 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA063062

HPAⁱ

HPA063062

Interactionⁱ

Subunit structureⁱ

Interacts with PDZK1.By similarity

GO - Molecular functionⁱ

PDZ domain binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 15523054

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	112471, 6 interactors
IntActⁱ	O76082, 5 interactors
STRINGⁱ	9606.ENSP00000245407

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	O76082
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. [View classification]Curated

Keywords - Domainⁱ

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	ENOG410IRIE Eukaryota ENOG410XSRI LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000118852
HOGENOMⁱ	HOG000234570
HOVERGENⁱ	HBG061545
InParanoidⁱ	O76082
KEGG Orthology (KO) More...KOⁱ	K08202
OMAⁱ	NIRMVTI
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G05AC
PhylomeDBⁱ	O76082
TreeFamⁱ	TF315847

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd06174 MFS, 1 hit
InterProⁱ	View protein in InterPro IPR020846 MFS_dom IPR005828 MFS_sugar_transport-like IPR036259 MFS_trans_sf IPR004749 Orgcat_transp/SVOP IPR005829 Sugar_transporter_CS
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00083 Sugar_tr, 1 hit
SUPFAMⁱ	SSF103473 SSF103473, 1 hit
TIGRFAMsⁱ	TIGR00898 2A0119, 1 hit
PROSITEⁱ	View protein in PROSITE PS50850 MFS, 1 hit PS00216 SUGAR_TRANSPORT_1, 1 hit

Sequences (3+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 3 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: O76082-1) [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.

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        10         20         30         40         50
MRDYDEVTAF LGEWGPFQRL IFFLLSASII PNGFTGLSSV FLIATPEHRC 
        60         70         80         90        100
RVPDAANLSS AWRNHTVPLR LRDGREVPHS CRRYRLATIA NFSALGLEPG 
       110        120        130        140        150
RDVDLGQLEQ ESCLDGWEFS QDVYLSTIVT EWNLVCEDDW KAPLTISLFF 
       160        170        180        190        200
VGVLLGSFIS GQLSDRFGRK NVLFVTMGMQ TGFSFLQIFS KNFEMFVVLF 
       210        220        230        240        250
VLVGMGQISN YVAAFVLGTE ILGKSVRIIF STLGVCIFYA FGYMVLPLFA 
       260        270        280        290        300
YFIRDWRMLL VALTMPGVLC VALWWFIPES PRWLISQGRF EEAEVIIRKA 
       310        320        330        340        350
AKANGIVVPS TIFDPSELQD LSSKKQQSHN ILDLLRTWNI RMVTIMSIML 
       360        370        380        390        400
WMTISVGYFG LSLDTPNLHG DIFVNCFLSA MVEVPAYVLA WLLLQYLPRR 
       410        420        430        440        450
YSMATALFLG GSVLLFMQLV PPDLYYLATV LVMVGKFGVT AAFSMVYVYT 
       460        470        480        490        500
AELYPTVVRN MGVGVSSTAS RLGSILSPYF VYLGAYDRFL PYILMGSLTI 
       510        520        530        540        550
LTAILTLFLP ESFGTPLPDT IDQMLRVKGM KHRKTPSHTR MLKDGQERPT 

ILKSTAF

Length:557

Mass (Da):62,752

Last modified:November 1, 1998 - v1

Checksum:ⁱ928B1F6EFF63C48D

Isoform 2 (identifier: O76082-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-336: Missing.
337-351: TWNIRMVTIMSIMLW → MWILLFQLSSALCFR

« Hide

        10         20         30         40         50
MWILLFQLSS ALCFRMTISV GYFGLSLDTP NLHGDIFVNC FLSAMVEVPA 
        60         70         80         90        100
YVLAWLLLQY LPRRYSMATA LFLGGSVLLF MQLVPPDLYY LATVLVMVGK 
       110        120        130        140        150
FGVTAAFSMV YVYTAELYPT VVRNMGVGVS STASRLGSIL SPYFVYLGAY 
       160        170        180        190        200
DRFLPYILMG SLTILTAILT LFLPESFGTP LPDTIDQMLR VKGMKHRKTP 
       210        220 
SHTRMLKDGQ ERPTILKSTA F

Note: No experimental confirmation available.

Show »

Length:221

Mass (Da):24,688

Checksum:ⁱB66DFBC13A50BDAF

Isoform 3 (identifier: O76082-3) [UniParc]FASTA Add to basket

Also known as: OCTN2VT

The sequence of this isoform differs from the canonical sequence as follows:
131-131: E → EQDSGAYNAMKNRMGKKPALCLPAQ

« Hide

        10         20         30         40         50
MRDYDEVTAF LGEWGPFQRL IFFLLSASII PNGFTGLSSV FLIATPEHRC 
        60         70         80         90        100
RVPDAANLSS AWRNHTVPLR LRDGREVPHS CRRYRLATIA NFSALGLEPG 
       110        120        130        140        150
RDVDLGQLEQ ESCLDGWEFS QDVYLSTIVT EQDSGAYNAM KNRMGKKPAL 
       160        170        180        190        200
CLPAQWNLVC EDDWKAPLTI SLFFVGVLLG SFISGQLSDR FGRKNVLFVT 
       210        220        230        240        250
MGMQTGFSFL QIFSKNFEMF VVLFVLVGMG QISNYVAAFV LGTEILGKSV 
       260        270        280        290        300
RIIFSTLGVC IFYAFGYMVL PLFAYFIRDW RMLLVALTMP GVLCVALWWF 
       310        320        330        340        350
IPESPRWLIS QGRFEEAEVI IRKAAKANGI VVPSTIFDPS ELQDLSSKKQ 
       360        370        380        390        400
QSHNILDLLR TWNIRMVTIM SIMLWMTISV GYFGLSLDTP NLHGDIFVNC 
       410        420        430        440        450
FLSAMVEVPA YVLAWLLLQY LPRRYSMATA LFLGGSVLLF MQLVPPDLYY 
       460        470        480        490        500
LATVLVMVGK FGVTAAFSMV YVYTAELYPT VVRNMGVGVS STASRLGSIL 
       510        520        530        540        550
SPYFVYLGAY DRFLPYILMG SLTILTAILT LFLPESFGTP LPDTIDQMLR 
       560        570        580 
VKGMKHRKTP SHTRMLKDGQ ERPTILKSTA F

Note: Retained in the ER, unable to perform carnitine uptake.

Show »

Length:581

Mass (Da):65,327

Checksum:ⁱC4DB6274B866DBF9

Computationally mapped potential isoform sequencesⁱ

There are 4 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

H7C1R8	H7C1R8_HUMAN	Solute carrier family 22 member 5 Solute carrier family 22 member 5	SLC22A5	136	Annotation score:
H7BZC0	H7BZC0_HUMAN	Solute carrier family 22 member 5 Solute carrier family 22 member 5	SLC22A5	240	Annotation score:
F8WCC9	F8WCC9_HUMAN	Solute carrier family 22 member 5 Solute carrier family 22 member 5	SLC22A5	141	Annotation score:
H7BZF0	H7BZF0_HUMAN	Solute carrier family 22 member 5 Solute carrier family 22 member 5	SLC22A5	37	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	114	L → P in AAH12325 (PubMed:15489334).Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_079640	4 – 557	Missing in CDSP. 1 PublicationAdd BLAST	554
Natural variantⁱVAR_064109	12	G → S in CDSP; unknown pathological significance; reduces carnitine transport but the mutant retains 50% of wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs139203363EnsemblClinVar.	1
Natural variantⁱVAR_064110	15	G → W in CDSP; carnitine transport reduced to less than 20% of wild-type. 4 PublicationsCorresponds to variant dbSNP:rs267607052EnsemblClinVar.	1
Natural variantⁱVAR_079641	16	P → L in CDSP; loss of carnitine transport. 1 Publication	1
Natural variantⁱVAR_020347	17	F → L in CDSP; carnitine transport reduced to less than 20% of wild-type. 4 PublicationsCorresponds to variant dbSNP:rs11568520EnsemblClinVar.	1
Natural variantⁱVAR_064111	19	R → P in CDSP; carnitine transport is reduced to less than 5% of normal. 4 PublicationsCorresponds to variant dbSNP:rs72552723EnsemblClinVar.	1
Natural variantⁱVAR_079642	20	L → H in CDSP; unknown pathological significance; reduces carnitine transport but the mutant retains 50% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs144020613EnsemblClinVar.	1
Natural variantⁱVAR_066842	22	Missing in CDSP; reduces carnitine transport to less than 1% of normal. 2 Publications	1
Natural variantⁱVAR_066843	26	S → N in CDSP; carnitine transport reduced to less than 6% of wild-type. 2 PublicationsCorresponds to variant dbSNP:rs772578415EnsemblClinVar.	1
Natural variantⁱVAR_079643	28	S → I in CDSP; carnitine transport reduced to 1% of wild-type. 1 PublicationCorresponds to variant dbSNP:rs72552724EnsemblClinVar.	1
Natural variantⁱVAR_064112	32	N → S in CDSP; carnitine transport reduced to less than 1% of wild-type. 4 PublicationsCorresponds to variant dbSNP:rs72552725EnsemblClinVar.	1
Natural variantⁱVAR_079644	44	A → V in CDSP; carnitine transport reduced to less than 10% of wild-type. 1 PublicationCorresponds to variant dbSNP:rs199689597Ensembl.	1
Natural variantⁱVAR_079645	46	P → L in CDSP; carnitine transport reduced to less than 5% of wild-type. 1 PublicationCorresponds to variant dbSNP:rs377767445EnsemblClinVar.	1
Natural variantⁱVAR_064113	46	P → S in CDSP; carnitine transport is reduced to less than 5% of normal. 5 PublicationsCorresponds to variant dbSNP:rs202088921EnsemblClinVar.	1
Natural variantⁱVAR_079646	50	C → Y in CDSP; loss of carnitine transport. 1 Publication	1
Natural variantⁱVAR_064114	66	T → P in CDSP; carnitine transport reduced to 2% of wild-type. 2 Publications

UniProtKB

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Annotation systems

Supporting data

UniProtKB - O76082 (S22A5_HUMAN)

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Solute carrier family 22 member 5

SLC22A5

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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

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

Other locations

Extracellular region or secreted

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

Amino acid modifications

Keywords - PTMi

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

GO - Molecular functioni

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

<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

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ