Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - O76082 (S22A5_HUMAN)

Protein

Solute carrier family 22 member 5

Gene

SLC22A5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

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 keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi218 – 225ATPSequence analysis8

<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

  • ATP binding Source: UniProtKB-KW
  • carnitine transmembrane transporter activity Source: BHF-UCL
  • drug transmembrane transporter activity Source: BHF-UCL
  • PDZ domain binding Source: BHF-UCL
  • quaternary ammonium group transmembrane transporter activity Source: BHF-UCL
  • symporter activity Source: UniProtKB-KW
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processIon transport, Sodium transport, Symport, Transport
LigandATP-binding, Nucleotide-binding, Sodium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...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

Transport Classification Database

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

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Solute carrier family 22 member 5
Alternative name(s):
High-affinity sodium-dependent carnitine cotransporter
Organic cation/carnitine transporter 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC22A5
Synonyms:OCTN2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000197375.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:10969 SLC22A5

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603377 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O76082

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 20CytoplasmicSequence analysisAdd BLAST20
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei21 – 41Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini42 – 142ExtracellularSequence analysisAdd BLAST101
Transmembranei143 – 163Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini164 – 172CytoplasmicSequence analysis9
Transmembranei173 – 193Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini194 – 197ExtracellularSequence analysis4
Transmembranei198 – 218Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini219 – 232CytoplasmicSequence analysisAdd BLAST14
Transmembranei233 – 253Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini254 – 257ExtracellularSequence analysis4
Transmembranei258 – 278Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini279 – 341CytoplasmicSequence analysisAdd BLAST63
Transmembranei342 – 362Helical; Name=7Sequence analysisAdd BLAST21
Topological domaini363 – 373ExtracellularSequence analysisAdd BLAST11
Transmembranei374 – 394Helical; Name=8Sequence analysisAdd BLAST21
Topological domaini395 – 406CytoplasmicSequence analysisAdd BLAST12
Transmembranei407 – 427Helical; Name=9Sequence analysisAdd BLAST21
Topological domaini428 – 430ExtracellularSequence analysis3
Transmembranei431 – 451Helical; Name=10Sequence analysisAdd BLAST21
Topological domaini452 – 462CytoplasmicSequence analysisAdd BLAST11
Transmembranei463 – 483Helical; Name=11Sequence analysisAdd BLAST21
Topological domaini484 – 488ExtracellularSequence analysis5
Transmembranei489 – 509Helical; Name=12Sequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0796404 – 557Missing in CDSP. 1 PublicationAdd BLAST554
Natural variantiVAR_06410912G → 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_06411015G → W in CDSP; carnitine transport reduced to less than 20% of wild-type. 4 PublicationsCorresponds to variant dbSNP:rs267607052EnsemblClinVar.1
Natural variantiVAR_07964116P → L in CDSP; loss of carnitine transport. 1 Publication1
Natural variantiVAR_02034717F → L in CDSP; carnitine transport reduced to less than 20% of wild-type. 4 PublicationsCorresponds to variant dbSNP:rs11568520EnsemblClinVar.1
Natural variantiVAR_06411119R → P in CDSP; carnitine transport is reduced to less than 5% of normal. 4 PublicationsCorresponds to variant dbSNP:rs72552723EnsemblClinVar.1
Natural variantiVAR_07964220L → 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_06684222Missing in CDSP; reduces carnitine transport to less than 1% of normal. 2 Publications1
Natural variantiVAR_06684326S → N in CDSP; carnitine transport reduced to less than 6% of wild-type. 2 PublicationsCorresponds to variant dbSNP:rs772578415EnsemblClinVar.1
Natural variantiVAR_07964328S → I in CDSP; carnitine transport reduced to 1% of wild-type. 1 PublicationCorresponds to variant dbSNP:rs72552724EnsemblClinVar.1
Natural variantiVAR_06411232N → S in CDSP; carnitine transport reduced to less than 1% of wild-type. 4 PublicationsCorresponds to variant dbSNP:rs72552725EnsemblClinVar.1
Natural variantiVAR_07964444A → V in CDSP; carnitine transport reduced to less than 10% of wild-type. 1 PublicationCorresponds to variant dbSNP:rs199689597EnsemblClinVar.1
Natural variantiVAR_07964546P → L in CDSP; carnitine transport reduced to less than 5% of wild-type. 1 PublicationCorresponds to variant dbSNP:rs377767445EnsemblClinVar.1
Natural variantiVAR_06411346P → S in CDSP; carnitine transport is reduced to less than 5% of normal. 5 PublicationsCorresponds to variant dbSNP:rs202088921EnsemblClinVar.1
Natural variantiVAR_07964650C → Y in CDSP; loss of carnitine transport. 1 Publication1
Natural variantiVAR_06411466T → P in CDSP; carnitine transport reduced to 2% of wild-type. 2 Publications1
Natural variantiVAR_06411575R → P in CDSP; carnitine transport reduced to 2% of wild-type. 2 PublicationsCorresponds to variant dbSNP:rs757711838Ensembl.1
Natural variantiVAR_06411683R → L in CDSP; loss of carnitine transport. 6 PublicationsCorresponds to variant dbSNP:rs72552726EnsemblClinVar.1
Natural variantiVAR_07964793S → W in CDSP; loss of carnitine transport. 1 PublicationCorresponds to variant dbSNP:rs386134190EnsemblClinVar.1
Natural variantiVAR_07964895L → 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_06411796G → A in CDSP; carnitine transport reduced to 20% of wild-type. 2 PublicationsCorresponds to variant dbSNP:rs377767450EnsemblClinVar.1
Natural variantiVAR_079649115D → G in CDSP; carnitine transport reduced to less than 5% of wild-type. 1 PublicationCorresponds to variant dbSNP:rs386134192EnsemblClinVar.1
Natural variantiVAR_079650117 – 557Missing in CDSP. 1 PublicationAdd BLAST441
Natural variantiVAR_064118122D → Y in CDSP. 1 PublicationCorresponds to variant dbSNP:rs201082652EnsemblClinVar.1
Natural variantiVAR_064119123V → G in CDSP; carnitine transport reduced to less than 20% of wild-type. 2 PublicationsCorresponds to variant dbSNP:rs748605096Ensembl.1
Natural variantiVAR_079651131E → D in CDSP; may affect splicing; unknown pathological significance; reduces carnitine transport but the mutant retains 30% of wild-type activity. 1 Publication1
Natural variantiVAR_079652132 – 557Missing in CDSP. 1 PublicationAdd BLAST426
Natural variantiVAR_079653140 – 557Missing in CDSP. 1 PublicationAdd BLAST418
Natural variantiVAR_064120142A → 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_064121143P → L in CDSP; carnitine transport reduced to less than 2% of wild-type. 3 PublicationsCorresponds to variant dbSNP:rs1178584184Ensembl.1
Natural variantiVAR_079654151V → 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_079655169R → P in CDSP; loss of carnitine transport. 1 Publication1
Natural variantiVAR_009252169R → Q in CDSP; loss of carnitine transport. 4 PublicationsCorresponds to variant dbSNP:rs121908889EnsemblClinVar.1
Natural variantiVAR_064122169R → W in CDSP; loss of carnitine transport. 5 PublicationsCorresponds to variant dbSNP:rs121908890EnsemblClinVar.1
Natural variantiVAR_079656175V → M in CDSP; carnitine transport reduced to less than 10% of wild-type. 1 PublicationCorresponds to variant dbSNP:rs781721860EnsemblClinVar.1
Natural variantiVAR_064123177M → V in CDSP; carnitine transport reduced to less than 20% of wild-type. 2 PublicationsCorresponds to variant dbSNP:rs145068530EnsemblClinVar.1
Natural variantiVAR_022564179M → 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_064124186L → P in CDSP; loss of carnitine transport. 2 PublicationsCorresponds to variant dbSNP:rs386134197EnsemblClinVar.1
Natural variantiVAR_079657205M → R in CDSP; loss of carnitine transport. 1 Publication1
Natural variantiVAR_079658210N → S in CDSP; loss of carnitine transport. 1 PublicationCorresponds to variant dbSNP:rs386134198EnsemblClinVar.1
Natural variantiVAR_009253211Y → C in CDSP; loss of carnitine transport. 2 PublicationsCorresponds to variant dbSNP:rs121908888EnsemblClinVar.1
Natural variantiVAR_064125214A → 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_079659219T → K in CDSP; unknown pathological significance; reduces carnitine transport but the mutant retains 30% of wild-type activity. 1 Publication1
Natural variantiVAR_079660225S → L in CDSP; reduces carnitine transport to less than 20% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs386134205EnsemblClinVar.1
Natural variantiVAR_064126227R → H in CDSP; reduces carnitine transport to less than 10% of wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs185551386EnsemblClinVar.1
Natural variantiVAR_064127230F → L in CDSP; reduces carnitine transport to less than 1% of wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs756650860EnsemblClinVar.1
Natural variantiVAR_079661231S → F in CDSP; loss of carnitine transport. 1 PublicationCorresponds to variant dbSNP:rs386134206EnsemblClinVar.1
Natural variantiVAR_064128232T → M in CDSP; reduces carnitine transport to less than 20% of wild-type activity. 5 PublicationsCorresponds to variant dbSNP:rs114269482EnsemblClinVar.1
Natural variantiVAR_064129234G → R in CDSP. 1 PublicationCorresponds to variant dbSNP:rs1457258524Ensembl.1
Natural variantiVAR_064130240A → T in CDSP; reduces carnitine transport to less than 2% of wild-type activity. 2 Publications1
Natural variantiVAR_064131242G → V in CDSP; loss of carnitine transport. 3 PublicationsCorresponds to variant dbSNP:rs72552728EnsemblClinVar.1
Natural variantiVAR_079662247P → R in CDSP; loss of carnitine transport. 1 Publication1
Natural variantiVAR_079663254 – 557Missing in CDSP. 1 PublicationAdd BLAST304
Natural variantiVAR_079664254R → 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_079665256 – 557Missing in CDSP. 1 PublicationAdd BLAST302
Natural variantiVAR_064132257R → W in CDSP; reduces carnitine transport to less than 10% of wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs386134203EnsemblClinVar.1
Natural variantiVAR_079666264T → 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_064133264T → R in CDSP; reduces carnitine transport to less than 5% of wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs201262157EnsemblClinVar.1
Natural variantiVAR_079667269L → P in CDSP; unknown pathological significance; reduces carnitine transport but the mutant retains more than 40% of wild-type activity. 1 Publication1
Natural variantiVAR_079668275 – 557Missing in CDSP. 1 PublicationAdd BLAST283
Natural variantiVAR_066844280S → F in CDSP; reduces carnitine transport to less than 1% of wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs386134208EnsemblClinVar.1
Natural variantiVAR_079669282 – 557Missing in CDSP. 1 PublicationAdd BLAST276
Natural variantiVAR_064134282R → Q in CDSP; reduces carnitine transport to 5% of wild-type activity. 4 PublicationsCorresponds to variant dbSNP:rs386134210EnsemblClinVar.1
Natural variantiVAR_022565283W → C in CDSP; loss of carnitine transport. 2 PublicationsCorresponds to variant dbSNP:rs386134211EnsemblClinVar.1
Natural variantiVAR_009254283W → R in CDSP; reduces carnitine transport to less than 1% of wild-type activity. 3 PublicationsCorresponds to variant dbSNP:rs72552729EnsemblClinVar.1
Natural variantiVAR_079670289 – 557Missing in CDSP. 1 PublicationAdd BLAST269
Natural variantiVAR_079671295 – 557Missing in CDSP. 1 PublicationAdd BLAST263
Natural variantiVAR_064135301A → 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_064136312I → 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_079672317E → K in CDSP; unknown pathological significance; no effect on carnitine transport. 1 PublicationCorresponds to variant dbSNP:rs774792831Ensembl.1
Natural variantiVAR_079673319 – 557Missing in CDSP. 1 PublicationAdd BLAST239
Natural variantiVAR_079674348I → 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_064137351W → R in CDSP; loss of carnitine transport. 4 PublicationsCorresponds to variant dbSNP:rs68018207EnsemblClinVar.1
Natural variantiVAR_064138355S → L in CDSP; reduces carnitine transport to less than 2% of wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs1385634398Ensembl.1
Natural variantiVAR_064139358Y → N in CDSP; loss of carnitine transport. 2 PublicationsCorresponds to variant dbSNP:rs61731073Ensembl.1
Natural variantiVAR_064140362S → L in CDSP. 1 PublicationCorresponds to variant dbSNP:rs886042092EnsemblClinVar.1
Natural variantiVAR_079675363L → P in CDSP; loss of carnitine transport. 1 PublicationCorresponds to variant dbSNP:rs386134214EnsemblClinVar.1
Natural variantiVAR_079676387 – 557Missing in CDSP. 1 PublicationAdd BLAST171
Natural variantiVAR_079677394Missing in CDSP; reduces carnitine transport to 5% of wild-type activity. 1 Publication1
Natural variantiVAR_064141398P → L in CDSP; reduces carnitine transport to less than 1% of wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs144547521EnsemblClinVar.1
Natural variantiVAR_064142399R → Q in CDSP; carnitine transport is reduced to less than 1% of normal. 3 PublicationsCorresponds to variant dbSNP:rs121908891EnsemblClinVar.1
Natural variantiVAR_064143399R → W in CDSP; reduces carnitine transport to less than 5% of wild-type activity. 3 PublicationsCorresponds to variant dbSNP:rs267607054EnsemblClinVar.1
Natural variantiVAR_079678412S → G in CDSP; unknown pathological significance; no effect on carnitine transport. 1 Publication1
Natural variantiVAR_079679439V → G in CDSP; reduces carnitine transport to less than 1% of wild-type activity. 1 Publication1
Natural variantiVAR_064144440T → M in CDSP; loss of carnitine transport. 3 PublicationsCorresponds to variant dbSNP:rs72552732EnsemblClinVar.1
Natural variantiVAR_064145442A → 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_064146443F → V in CDSP; reduces carnitine transport to less than 1% of wild-type. 2 Publications1
Natural variantiVAR_009255446V → F in CDSP; reduces carnitine transport to less than 1% of wild-type. 3 PublicationsCorresponds to variant dbSNP:rs72552733EnsemblClinVar.1
Natural variantiVAR_064147447Y → C in CDSP; loss of carnitine transport. 3 PublicationsCorresponds to variant dbSNP:rs386134218EnsemblClinVar.1
Natural variantiVAR_079680448V → L in CDSP; reduces carnitine transport to less than 20% of wild-type. 1 PublicationCorresponds to variant dbSNP:rs386134219EnsemblClinVar.1
Natural variantiVAR_029315449Y → 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_009256452E → K in CDSP; reduces carnitine transport to less than 5% of wild-type. 4 PublicationsCorresponds to variant dbSNP:rs72552734EnsemblClinVar.1
Natural variantiVAR_064148455P → R in CDSP; loss of carnitine transport. 2 PublicationsCorresponds to variant dbSNP:rs1408166345Ensembl.1
Natural variantiVAR_079681462G → V in CDSP; reduces carnitine transport to less than 5% of wild-type. 1 Publication1
Natural variantiVAR_022566467S → C in CDSP; reduces carnitine transport to less than 20% of wild-type activity. 6 PublicationsCorresponds to variant dbSNP:rs60376624EnsemblClinVar.1
Natural variantiVAR_064149468T → 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_079682470S → F in CDSP; loss of carnitine transport. 1 PublicationCorresponds to variant dbSNP:rs386134222EnsemblClinVar.1
Natural variantiVAR_064150471R → C in CDSP. 1 PublicationCorresponds to variant dbSNP:rs749282641EnsemblClinVar.1
Natural variantiVAR_079683471R → H in CDSP; reduces carnitine transport to less than 2% of wild-type. 1 PublicationCorresponds to variant dbSNP:rs386134223EnsemblClinVar.1
Natural variantiVAR_066845471R → P in CDSP; loss of carnitine transport. 2 Publications1
Natural variantiVAR_079684476L → R in CDSP; loss of carnitine transport. 1 Publication1
Natural variantiVAR_009257478P → L in CDSP; loss of carnitine transport but stimulated organic cation transport. 3 PublicationsCorresponds to variant dbSNP:rs72552735EnsemblClinVar.1
Natural variantiVAR_064151488R → C in CDSP; reduces carnitine transport to less than 10% of wild-type. 3 PublicationsCorresponds to variant dbSNP:rs377216516EnsemblClinVar.1
Natural variantiVAR_066846488R → H in CDSP; unknown pathological significance; reduces carnitine transport to 40% of wild-type. 2 PublicationsCorresponds to variant dbSNP:rs28383481EnsemblClinVar.1
Natural variantiVAR_064152507L → S in CDSP; reduces carnitine transport to 5% of wild-type. 2 PublicationsCorresponds to variant dbSNP:rs1157198543Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi352M → R: Loss of both carnitine and organic cation transport functionalities. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		6584

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		SLC22A5

MalaCards human disease database

More...MalaCardsi		SLC22A5
MIMi212140 phenotype

Open Targets

More...OpenTargetsi		ENSG00000197375

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		158 Systemic primary carnitine deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA333

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...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

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SLC22A5

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002205001 – 557Solute carrier family 22 member 5Add BLAST557

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi57N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi64N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi91N-linked (GlcNAc...) asparagine1 Publication1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei486PhosphotyrosineCombined sources1
Modified residuei550PhosphothreonineCombined sources1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O76082

MaxQB - The MaxQuant DataBase

More...MaxQBi		O76082

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O76082

PeptideAtlas

More...PeptideAtlasi		O76082

PRoteomics IDEntifications database

More...PRIDEi		O76082

ProteomicsDB human proteome resource

More...ProteomicsDBi		50388
50389 [O76082-2]
50390 [O76082-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O76082

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O76082

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000197375 Expressed in 189 organ(s), highest expression level in oviduct epithelium

CleanEx database of gene expression profiles

More...CleanExi		HS_SLC22A5

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O76082 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O76082 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA063062

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with PDZK1.By similarity

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		112471, 6 interactors

Protein interaction database and analysis system

More...IntActi		O76082, 5 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000245407

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		O76082

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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

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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IRIE Eukaryota
ENOG410XSRI LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154155

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000234570

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG061545

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O76082

KEGG Orthology (KO)

More...KOi		K08202

Identification of Orthologs from Complete Genome Data

More...OMAi		MVTIMSI

Database of Orthologous Groups

More...OrthoDBi		396963at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O76082

TreeFam database of animal gene trees

More...TreeFami		TF315847

Family and domain databases

Conserved Domains Database

More...CDDi		cd06174 MFS, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF103473 SSF103473, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00898 2A0119, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50850 MFS, 1 hit
PS00216 SUGAR_TRANSPORT_1, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

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

Isoform 1 (identifier: O76082-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i928B1F6EFF63C48D
GO
Isoform 2 (identifier: O76082-2) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:221
Mass (Da):24,688
Checksum:iB66DFBC13A50BDAF
GO
Isoform 3 (identifier: O76082-3) [UniParc]FASTAAdd to basket
Also known as: OCTN2VT

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

Note: Retained in the ER, unable to perform carnitine uptake.
Show »
Length:581
Mass (Da):65,327
Checksum:iC4DB6274B866DBF9
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C1R8H7C1R8_HUMAN
Solute carrier family 22 member 5
SLC22A5
136Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7BZC0H7BZC0_HUMAN
Solute carrier family 22 member 5
SLC22A5
240Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WCC9F8WCC9_HUMAN
Solute carrier family 22 member 5
SLC22A5
141Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7BZF0H7BZF0_HUMAN
Solute carrier family 22 member 5
SLC22A5
37Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti114L → P in AAH12325 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0796404 – 557Missing in CDSP. 1 PublicationAdd BLAST554
Natural variantiVAR_06410912G → 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_06411015G → W in CDSP; carnitine transport reduced to less than 20% of wild-type. 4 PublicationsCorresponds to variant dbSNP:rs267607052EnsemblClinVar.1
Natural variantiVAR_07964116P → L in CDSP; loss of carnitine transport. 1 Publication1
Natural variantiVAR_02034717F → L in CDSP; carnitine transport reduced to less than 20% of wild-type. 4 PublicationsCorresponds to variant dbSNP:rs11568520EnsemblClinVar.1
Natural variantiVAR_06411119R → P in CDSP; carnitine transport is reduced to less than 5% of normal. 4 PublicationsCorresponds to variant dbSNP:rs72552723EnsemblClinVar.1
Natural variantiVAR_07964220L → 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_06684222Missing in CDSP; reduces carnitine transport to less than 1% of normal. 2 Publications1
Natural variantiVAR_06684326S → N in CDSP; carnitine transport reduced to less than 6% of wild-type. 2 PublicationsCorresponds to variant dbSNP:rs772578415EnsemblClinVar.1
Natural variantiVAR_07964328S → I in CDSP; carnitine transport reduced to 1% of wild-type. 1 PublicationCorresponds to variant dbSNP:rs72552724EnsemblClinVar.1
Natural variantiVAR_06411232N → S in CDSP; carnitine transport reduced to less than 1% of wild-type. 4 PublicationsCorresponds to variant dbSNP:rs72552725EnsemblClinVar.1
Natural variantiVAR_07964444A → V in CDSP; carnitine transport reduced to less than 10% of wild-type. 1 PublicationCorresponds to variant dbSNP:rs199689597EnsemblClinVar.1
Natural variantiVAR_07964546P → L in CDSP; carnitine transport reduced to less than 5% of wild-type. 1 PublicationCorresponds to variant dbSNP:rs377767445EnsemblClinVar.1
Natural variantiVAR_06411346P → S in CDSP; carnitine transport is reduced to less than 5% of normal. 5 PublicationsCorresponds to variant dbSNP:rs202088921EnsemblClinVar.1
Natural variantiVAR_07964650C → Y in CDSP; loss of carnitine transport. 1 Publication1
Natural variantiVAR_06411466T → P in CDSP; carnitine transport reduced to 2% of wild-type. 2 Publications