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O76082

- S22A5_HUMAN

UniProt

O76082 - S22A5_HUMAN

Protein

Solute carrier family 22 member 5

Gene

SLC22A5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 138 (01 Oct 2014)
      Sequence version 1 (01 Nov 1998)
      Previous versions | rss
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    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

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi218 – 2258ATPSequence Analysis

    GO - Molecular functioni

    1. antibiotic transporter activity Source: Ensembl
    2. ATP binding Source: UniProtKB-KW
    3. carnitine transmembrane transporter activity Source: BHF-UCL
    4. drug transmembrane transporter activity Source: BHF-UCL
    5. PDZ domain binding Source: BHF-UCL
    6. protein binding Source: BHF-UCL
    7. quaternary ammonium group transmembrane transporter activity Source: BHF-UCL
    8. symporter activity Source: UniProtKB-KW

    GO - Biological processi

    1. carnitine transmembrane transport Source: GOC
    2. carnitine transport Source: BHF-UCL
    3. drug transmembrane transport Source: GOC
    4. drug transport Source: BHF-UCL
    5. positive regulation of intestinal epithelial structure maintenance Source: BHF-UCL
    6. quaternary ammonium group transport Source: BHF-UCL
    7. quorum sensing involved in interaction with host Source: BHF-UCL
    8. sodium-dependent organic cation transport Source: BHF-UCL
    9. sodium ion transport Source: UniProtKB-KW
    10. transmembrane transport Source: Reactome

    Keywords - Biological processi

    Ion transport, Sodium transport, Symport, Transport

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding, Sodium

    Enzyme and pathway databases

    ReactomeiREACT_22357. Organic cation transport.

    Protein family/group databases

    TCDBi2.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
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:10969. SLC22A5.

    Subcellular locationi

    Membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. apical plasma membrane Source: BHF-UCL
    2. basolateral plasma membrane Source: Ensembl
    3. brush border membrane Source: BHF-UCL
    4. extracellular vesicular exosome Source: UniProt
    5. integral component of membrane Source: UniProtKB-KW
    6. plasma membrane Source: BHF-UCL

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Systemic primary carnitine deficiency (CDSP) [MIM:212140]: Autosomal 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.15 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti12 – 121G → S in CDSP. 1 Publication
    Corresponds to variant rs139203363 [ dbSNP | Ensembl ].
    VAR_064109
    Natural varianti15 – 151G → W in CDSP. 3 Publications
    VAR_064110
    Natural varianti17 – 171F → L in CDSP. 3 Publications
    VAR_020347
    Natural varianti19 – 191R → P in CDSP; carnitine transport is reduced to less than 5% of normal. 3 Publications
    VAR_064111
    Natural varianti22 – 221Missing in CDSP; reduces carnitine transport. 1 Publication
    VAR_066842
    Natural varianti26 – 261S → N in CDSP; reduces carnitine transport. 1 Publication
    VAR_066843
    Natural varianti32 – 321N → S in CDSP; reduces carnitine transport. 3 Publications
    VAR_064112
    Natural varianti46 – 461P → S in CDSP; carnitine transport is reduced to less than 5% of normal. 4 Publications
    VAR_064113
    Natural varianti66 – 661T → P Associated with CDSP; unclassified missense variant. 1 Publication
    VAR_064114
    Natural varianti75 – 751R → P Associated with CDSP; unclassified missense variant. 1 Publication
    VAR_064115
    Natural varianti83 – 831R → L in CDSP; reduces carnitine transport. 5 Publications
    VAR_064116
    Natural varianti96 – 961G → A Associated with CDSP; unclassified missense variant. 1 Publication
    VAR_064117
    Natural varianti122 – 1221D → Y in CDSP. 1 Publication
    VAR_064118
    Natural varianti123 – 1231V → G Associated with CDSP; unclassified missense variant. 1 Publication
    VAR_064119
    Natural varianti142 – 1421A → S in CDSP. 3 Publications
    VAR_064120
    Natural varianti143 – 1431P → L Associated with CDSP; unclassified missense variant. 2 Publications
    VAR_064121
    Natural varianti169 – 1691R → Q in CDSP; reduces carnitine transport. 3 Publications
    VAR_009252
    Natural varianti169 – 1691R → W in CDSP; abolishes carnitine transport. 4 Publications
    VAR_064122
    Natural varianti177 – 1771M → V Associated with CDSP; unclassified missense variant. 1 Publication
    Corresponds to variant rs145068530 [ dbSNP | Ensembl ].
    VAR_064123
    Natural varianti179 – 1791M → L in CDSP. 1 Publication
    VAR_022564
    Natural varianti186 – 1861L → P in CDSP. 1 Publication
    VAR_064124
    Natural varianti211 – 2111Y → C in CDSP. 1 Publication
    VAR_009253
    Natural varianti214 – 2141A → V in CDSP; reduces carnitine transport. 3 Publications
    VAR_064125
    Natural varianti227 – 2271R → H in CDSP. 1 Publication
    Corresponds to variant rs185551386 [ dbSNP | Ensembl ].
    VAR_064126
    Natural varianti230 – 2301F → L Associated with CDSP; unclassified missense variant. 1 Publication
    VAR_064127
    Natural varianti232 – 2321T → M in CDSP; markedly reduced carnitine transport compared to the wild-type protein. 4 Publications
    Corresponds to variant rs114269482 [ dbSNP | Ensembl ].
    VAR_064128
    Natural varianti234 – 2341G → R in CDSP. 1 Publication
    VAR_064129
    Natural varianti240 – 2401A → T Associated with CDSP; unclassified missense variant. 1 Publication
    VAR_064130
    Natural varianti242 – 2421G → V in CDSP; abolishes carnitine transport. 2 Publications
    VAR_064131
    Natural varianti257 – 2571R → W in CDSP. 1 Publication
    VAR_064132
    Natural varianti264 – 2641T → R in CDSP. 1 Publication
    VAR_064133
    Natural varianti280 – 2801S → F in CDSP; reduces carnitine transport. 1 Publication
    VAR_066844
    Natural varianti282 – 2821R → Q in CDSP; reduces carnitine transport. 3 Publications
    VAR_064134
    Natural varianti283 – 2831W → C in CDSP; reduces L-carnitine uptake. 1 Publication
    VAR_022565
    Natural varianti283 – 2831W → R in CDSP; reduces carnitine transport. 2 Publications
    VAR_009254
    Natural varianti301 – 3011A → D in CDSP; has 2-3% residual carnitine transport of the value measured in cells expressing the wild-type protein. 2 Publications
    VAR_064135
    Natural varianti312 – 3121I → V Associated with CDSP; unclassified missense variant. 1 Publication
    Corresponds to variant rs77300588 [ dbSNP | Ensembl ].
    VAR_064136
    Natural varianti351 – 3511W → R in CDSP; abolishes carnitine transport. 3 Publications
    VAR_064137
    Natural varianti355 – 3551S → L in CDSP. 1 Publication
    VAR_064138
    Natural varianti358 – 3581Y → N Associated with CDSP; unclassified missense variant. 1 Publication
    VAR_064139
    Natural varianti362 – 3621S → L in CDSP. 1 Publication
    VAR_064140
    Natural varianti398 – 3981P → L in CDSP. 1 Publication
    VAR_064141
    Natural varianti399 – 3991R → Q in CDSP; carnitine transport is reduced to less than 5% of normal. 2 Publications
    VAR_064142
    Natural varianti399 – 3991R → W in CDSP. 2 Publications
    VAR_064143
    Natural varianti440 – 4401T → M in CDSP; reduces carnitine transport. 2 Publications
    VAR_064144
    Natural varianti442 – 4421A → I in CDSP; requires 2 nucleotide substitutions; reduces carnitine transport. 3 Publications
    VAR_064145
    Natural varianti443 – 4431F → V in CDSP. 1 Publication
    VAR_064146
    Natural varianti446 – 4461V → F in CDSP; reduces carnitine transport. 2 Publications
    VAR_009255
    Natural varianti447 – 4471Y → C in CDSP; reduces carnitine transport. 2 Publications
    VAR_064147
    Natural varianti449 – 4491Y → D in CDSP. 3 Publications
    Corresponds to variant rs11568514 [ dbSNP | Ensembl ].
    VAR_029315
    Natural varianti452 – 4521E → K in CDSP. 3 Publications
    VAR_009256
    Natural varianti455 – 4551P → R in CDSP. 1 Publication
    VAR_064148
    Natural varianti467 – 4671S → C in CDSP; reduces L-carnitine uptake. 5 Publications
    Corresponds to variant rs60376624 [ dbSNP | Ensembl ].
    VAR_022566
    Natural varianti468 – 4681T → R in CDSP; markedly reduced carnitine transport compared to the wild-type protein. 1 Publication
    VAR_064149
    Natural varianti471 – 4711R → C in CDSP. 1 Publication
    VAR_064150
    Natural varianti471 – 4711R → P in CDSP; reduces carnitine transport. 1 Publication
    VAR_066845
    Natural varianti478 – 4781P → L in CDSP; loss of carnitine transport but stimulated organic cation transport. 1 Publication
    VAR_009257
    Natural varianti488 – 4881R → C in CDSP. 2 Publications
    VAR_064151
    Natural varianti488 – 4881R → H in CDSP; reduces carnitine transport. 1 Publication
    Corresponds to variant rs28383481 [ dbSNP | Ensembl ].
    VAR_066846
    Natural varianti507 – 5071L → S in CDSP. 1 Publication
    VAR_064152
    Natural varianti549 – 5491P → S Associated with CDSP; unclassified missense variant. 2 Publications
    Corresponds to variant rs11568525 [ dbSNP | Ensembl ].
    VAR_020350

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi352 – 3521M → R: Loss of both carnitine and organic cation transport functionalities. 1 Publication

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi212140. phenotype.
    Orphaneti158. Systemic primary carnitine deficiency.
    PharmGKBiPA333.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 557557Solute carrier family 22 member 5PRO_0000220500Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi57 – 571N-linked (GlcNAc...)1 Publication
    Glycosylationi64 – 641N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi91 – 911N-linked (GlcNAc...)1 Publication
    Modified residuei486 – 4861Phosphotyrosine1 Publication
    Modified residuei550 – 5501PhosphothreonineBy similarity

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiO76082.
    PaxDbiO76082.
    PRIDEiO76082.

    PTM databases

    PhosphoSiteiO76082.

    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

    ArrayExpressiO76082.
    BgeeiO76082.
    CleanExiHS_SLC22A5.
    GenevestigatoriO76082.

    Interactioni

    Subunit structurei

    Interacts with PDZK1.By similarity

    Protein-protein interaction databases

    BioGridi112471. 3 interactions.
    STRINGi9606.ENSP00000245407.

    Structurei

    3D structure databases

    ProteinModelPortaliO76082.
    SMRiO76082. Positions 144-514.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2020CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini42 – 142101ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini164 – 1729CytoplasmicSequence Analysis
    Topological domaini194 – 1974ExtracellularSequence Analysis
    Topological domaini219 – 23214CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini254 – 2574ExtracellularSequence Analysis
    Topological domaini279 – 34163CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini363 – 37311ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini395 – 40612CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini428 – 4303ExtracellularSequence Analysis
    Topological domaini452 – 46211CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini484 – 4885ExtracellularSequence Analysis

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei21 – 4121Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei143 – 16321Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei173 – 19321Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei198 – 21821Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei233 – 25321Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei258 – 27821Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei342 – 36221Helical; Name=7Sequence AnalysisAdd
    BLAST
    Transmembranei374 – 39421Helical; Name=8Sequence AnalysisAdd
    BLAST
    Transmembranei407 – 42721Helical; Name=9Sequence AnalysisAdd
    BLAST
    Transmembranei431 – 45121Helical; Name=10Sequence AnalysisAdd
    BLAST
    Transmembranei463 – 48321Helical; Name=11Sequence AnalysisAdd
    BLAST
    Transmembranei489 – 50921Helical; Name=12Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0477.
    HOGENOMiHOG000234570.
    HOVERGENiHBG061545.
    InParanoidiO76082.
    KOiK08202.
    OMAiILWMIIS.
    OrthoDBiEOG7C8GH9.
    PhylomeDBiO76082.
    TreeFamiTF315847.

    Family and domain databases

    InterProiIPR020846. MFS_dom.
    IPR016196. MFS_dom_general_subst_transpt.
    IPR004749. Orgcat_transp.
    IPR005828. Sub_transporter.
    IPR005829. Sugar_transporter_CS.
    [Graphical view]
    PfamiPF00083. Sugar_tr. 1 hit.
    [Graphical view]
    SUPFAMiSSF103473. SSF103473. 1 hit.
    TIGRFAMsiTIGR00898. 2A0119. 1 hit.
    PROSITEiPS50850. MFS. 1 hit.
    PS00216. SUGAR_TRANSPORT_1. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    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

    MRDYDEVTAF LGEWGPFQRL IFFLLSASII PNGFTGLSSV FLIATPEHRC    50
    RVPDAANLSS AWRNHTVPLR LRDGREVPHS CRRYRLATIA NFSALGLEPG 100
    RDVDLGQLEQ ESCLDGWEFS QDVYLSTIVT EWNLVCEDDW KAPLTISLFF 150
    VGVLLGSFIS GQLSDRFGRK NVLFVTMGMQ TGFSFLQIFS KNFEMFVVLF 200
    VLVGMGQISN YVAAFVLGTE ILGKSVRIIF STLGVCIFYA FGYMVLPLFA 250
    YFIRDWRMLL VALTMPGVLC VALWWFIPES PRWLISQGRF EEAEVIIRKA 300
    AKANGIVVPS TIFDPSELQD LSSKKQQSHN ILDLLRTWNI RMVTIMSIML 350
    WMTISVGYFG LSLDTPNLHG DIFVNCFLSA MVEVPAYVLA WLLLQYLPRR 400
    YSMATALFLG GSVLLFMQLV PPDLYYLATV LVMVGKFGVT AAFSMVYVYT 450
    AELYPTVVRN MGVGVSSTAS RLGSILSPYF VYLGAYDRFL PYILMGSLTI 500
    LTAILTLFLP ESFGTPLPDT IDQMLRVKGM KHRKTPSHTR MLKDGQERPT 550
    ILKSTAF 557
    Length:557
    Mass (Da):62,752
    Last modified:November 1, 1998 - v1
    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti114 – 1141L → P in AAH12325. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti12 – 121G → S in CDSP. 1 Publication
    Corresponds to variant rs139203363 [ dbSNP | Ensembl ].
    VAR_064109
    Natural varianti15 – 151G → W in CDSP. 3 Publications
    VAR_064110
    Natural varianti17 – 171F → L in CDSP. 3 Publications
    VAR_020347
    Natural varianti19 – 191R → P in CDSP; carnitine transport is reduced to less than 5% of normal. 3 Publications
    VAR_064111
    Natural varianti22 – 221Missing in CDSP; reduces carnitine transport. 1 Publication
    VAR_066842
    Natural varianti26 – 261S → N in CDSP; reduces carnitine transport. 1 Publication
    VAR_066843
    Natural varianti32 – 321N → S in CDSP; reduces carnitine transport. 3 Publications
    VAR_064112
    Natural varianti46 – 461P → S in CDSP; carnitine transport is reduced to less than 5% of normal. 4 Publications
    VAR_064113
    Natural varianti66 – 661T → P Associated with CDSP; unclassified missense variant. 1 Publication
    VAR_064114
    Natural varianti75 – 751R → P Associated with CDSP; unclassified missense variant. 1 Publication
    VAR_064115
    Natural varianti83 – 831R → L in CDSP; reduces carnitine transport. 5 Publications
    VAR_064116
    Natural varianti96 – 961G → A Associated with CDSP; unclassified missense variant. 1 Publication
    VAR_064117
    Natural varianti122 – 1221D → Y in CDSP. 1 Publication
    VAR_064118
    Natural varianti123 – 1231V → G Associated with CDSP; unclassified missense variant. 1 Publication
    VAR_064119
    Natural varianti142 – 1421A → S in CDSP. 3 Publications
    VAR_064120
    Natural varianti143 – 1431P → L Associated with CDSP; unclassified missense variant. 2 Publications
    VAR_064121
    Natural varianti144 – 1441L → F.1 Publication
    Corresponds to variant rs10040427 [ dbSNP | Ensembl ].
    VAR_020348
    Natural varianti169 – 1691R → Q in CDSP; reduces carnitine transport. 3 Publications
    VAR_009252
    Natural varianti169 – 1691R → W in CDSP; abolishes carnitine transport. 4 Publications
    VAR_064122
    Natural varianti177 – 1771M → V Associated with CDSP; unclassified missense variant. 1 Publication
    Corresponds to variant rs145068530 [ dbSNP | Ensembl ].
    VAR_064123
    Natural varianti179 – 1791M → L in CDSP. 1 Publication
    VAR_022564
    Natural varianti186 – 1861L → P in CDSP. 1 Publication
    VAR_064124
    Natural varianti211 – 2111Y → C in CDSP. 1 Publication
    VAR_009253
    Natural varianti214 – 2141A → V in CDSP; reduces carnitine transport. 3 Publications
    VAR_064125
    Natural varianti227 – 2271R → H in CDSP. 1 Publication
    Corresponds to variant rs185551386 [ dbSNP | Ensembl ].
    VAR_064126
    Natural varianti230 – 2301F → L Associated with CDSP; unclassified missense variant. 1 Publication
    VAR_064127
    Natural varianti232 – 2321T → M in CDSP; markedly reduced carnitine transport compared to the wild-type protein. 4 Publications
    Corresponds to variant rs114269482 [ dbSNP | Ensembl ].
    VAR_064128
    Natural varianti234 – 2341G → R in CDSP. 1 Publication
    VAR_064129
    Natural varianti240 – 2401A → T Associated with CDSP; unclassified missense variant. 1 Publication
    VAR_064130
    Natural varianti242 – 2421G → V in CDSP; abolishes carnitine transport. 2 Publications
    VAR_064131
    Natural varianti257 – 2571R → W in CDSP. 1 Publication
    VAR_064132
    Natural varianti264 – 2641T → R in CDSP. 1 Publication
    VAR_064133
    Natural varianti280 – 2801S → F in CDSP; reduces carnitine transport. 1 Publication
    VAR_066844
    Natural varianti282 – 2821R → Q in CDSP; reduces carnitine transport. 3 Publications
    VAR_064134
    Natural varianti283 – 2831W → C in CDSP; reduces L-carnitine uptake. 1 Publication
    VAR_022565
    Natural varianti283 – 2831W → R in CDSP; reduces carnitine transport. 2 Publications
    VAR_009254
    Natural varianti301 – 3011A → D in CDSP; has 2-3% residual carnitine transport of the value measured in cells expressing the wild-type protein. 2 Publications
    VAR_064135
    Natural varianti312 – 3121I → V Associated with CDSP; unclassified missense variant. 1 Publication
    Corresponds to variant rs77300588 [ dbSNP | Ensembl ].
    VAR_064136
    Natural varianti351 – 3511W → R in CDSP; abolishes carnitine transport. 3 Publications
    VAR_064137
    Natural varianti355 – 3551S → L in CDSP. 1 Publication
    VAR_064138
    Natural varianti358 – 3581Y → N Associated with CDSP; unclassified missense variant. 1 Publication
    VAR_064139
    Natural varianti362 – 3621S → L in CDSP. 1 Publication
    VAR_064140
    Natural varianti398 – 3981P → L in CDSP. 1 Publication
    VAR_064141
    Natural varianti399 – 3991R → Q in CDSP; carnitine transport is reduced to less than 5% of normal. 2 Publications
    VAR_064142
    Natural varianti399 – 3991R → W in CDSP. 2 Publications
    VAR_064143
    Natural varianti440 – 4401T → M in CDSP; reduces carnitine transport. 2 Publications
    VAR_064144
    Natural varianti442 – 4421A → I in CDSP; requires 2 nucleotide substitutions; reduces carnitine transport. 3 Publications
    VAR_064145
    Natural varianti443 – 4431F → V in CDSP. 1 Publication
    VAR_064146
    Natural varianti446 – 4461V → F in CDSP; reduces carnitine transport. 2 Publications
    VAR_009255
    Natural varianti447 – 4471Y → C in CDSP; reduces carnitine transport. 2 Publications
    VAR_064147
    Natural varianti449 – 4491Y → D in CDSP. 3 Publications
    Corresponds to variant rs11568514 [ dbSNP | Ensembl ].
    VAR_029315
    Natural varianti452 – 4521E → K in CDSP. 3 Publications
    VAR_009256
    Natural varianti455 – 4551P → R in CDSP. 1 Publication
    VAR_064148
    Natural varianti467 – 4671S → C in CDSP; reduces L-carnitine uptake. 5 Publications
    Corresponds to variant rs60376624 [ dbSNP | Ensembl ].
    VAR_022566
    Natural varianti468 – 4681T → R in CDSP; markedly reduced carnitine transport compared to the wild-type protein. 1 Publication
    VAR_064149
    Natural varianti471 – 4711R → C in CDSP. 1 Publication
    VAR_064150
    Natural varianti471 – 4711R → P in CDSP; reduces carnitine transport. 1 Publication
    VAR_066845
    Natural varianti478 – 4781P → L in CDSP; loss of carnitine transport but stimulated organic cation transport. 1 Publication
    VAR_009257
    Natural varianti481 – 4811V → F.1 Publication
    Corresponds to variant rs11568513 [ dbSNP | Ensembl ].
    VAR_020349
    Natural varianti481 – 4811V → I.1 Publication
    Corresponds to variant rs11568513 [ dbSNP | Ensembl ].
    VAR_036816
    Natural varianti488 – 4881R → C in CDSP. 2 Publications
    VAR_064151
    Natural varianti488 – 4881R → H in CDSP; reduces carnitine transport. 1 Publication
    Corresponds to variant rs28383481 [ dbSNP | Ensembl ].
    VAR_066846
    Natural varianti507 – 5071L → S in CDSP. 1 Publication
    VAR_064152
    Natural varianti508 – 5081F → L.1 Publication
    VAR_029316
    Natural varianti530 – 5301M → V.1 Publication
    VAR_029317
    Natural varianti549 – 5491P → S Associated with CDSP; unclassified missense variant. 2 Publications
    Corresponds to variant rs11568525 [ dbSNP | Ensembl ].
    VAR_020350

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 336336Missing in isoform 2. 1 PublicationVSP_011120Add
    BLAST
    Alternative sequencei131 – 1311E → EQDSGAYNAMKNRMGKKPAL CLPAQ in isoform 3. 1 PublicationVSP_043904
    Alternative sequencei337 – 35115TWNIR…SIMLW → MWILLFQLSSALCFR in isoform 2. 1 PublicationVSP_011121Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF057164 mRNA. Translation: AAC24828.1.
    AB015050 mRNA. Translation: BAA29023.1.
    AB016625 Genomic DNA. Translation: BAA36712.1.
    AB291606 mRNA. Translation: BAF45812.1.
    AK128610 mRNA. Translation: BAC87527.1.
    AK313230 mRNA. Translation: BAG36041.1.
    AC118464 Genomic DNA. No translation available.
    CH471062 Genomic DNA. Translation: EAW62337.1.
    CH471062 Genomic DNA. Translation: EAW62338.1.
    BC012325 mRNA. Translation: AAH12325.1.
    CCDSiCCDS4154.1. [O76082-1]
    PIRiJW0089.
    RefSeqiNP_003051.1. NM_003060.3. [O76082-1]
    XP_005272112.1. XM_005272055.2. [O76082-3]
    UniGeneiHs.443572.

    Genome annotation databases

    EnsembliENST00000245407; ENSP00000245407; ENSG00000197375. [O76082-1]
    ENST00000435065; ENSP00000402760; ENSG00000197375. [O76082-3]
    GeneIDi6584.
    KEGGihsa:6584.
    UCSCiuc003kww.4. human. [O76082-1]
    uc003kwx.4. human. [O76082-3]
    uc010jdr.1. human. [O76082-2]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    The SLC22A5 database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF057164 mRNA. Translation: AAC24828.1 .
    AB015050 mRNA. Translation: BAA29023.1 .
    AB016625 Genomic DNA. Translation: BAA36712.1 .
    AB291606 mRNA. Translation: BAF45812.1 .
    AK128610 mRNA. Translation: BAC87527.1 .
    AK313230 mRNA. Translation: BAG36041.1 .
    AC118464 Genomic DNA. No translation available.
    CH471062 Genomic DNA. Translation: EAW62337.1 .
    CH471062 Genomic DNA. Translation: EAW62338.1 .
    BC012325 mRNA. Translation: AAH12325.1 .
    CCDSi CCDS4154.1. [O76082-1 ]
    PIRi JW0089.
    RefSeqi NP_003051.1. NM_003060.3. [O76082-1 ]
    XP_005272112.1. XM_005272055.2. [O76082-3 ]
    UniGenei Hs.443572.

    3D structure databases

    ProteinModelPortali O76082.
    SMRi O76082. Positions 144-514.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112471. 3 interactions.
    STRINGi 9606.ENSP00000245407.

    Chemistry

    ChEMBLi CHEMBL2073693.
    DrugBanki DB00583. L-Carnitine.

    Protein family/group databases

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

    PTM databases

    PhosphoSitei O76082.

    Proteomic databases

    MaxQBi O76082.
    PaxDbi O76082.
    PRIDEi O76082.

    Protocols and materials databases

    DNASUi 6584.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000245407 ; ENSP00000245407 ; ENSG00000197375 . [O76082-1 ]
    ENST00000435065 ; ENSP00000402760 ; ENSG00000197375 . [O76082-3 ]
    GeneIDi 6584.
    KEGGi hsa:6584.
    UCSCi uc003kww.4. human. [O76082-1 ]
    uc003kwx.4. human. [O76082-3 ]
    uc010jdr.1. human. [O76082-2 ]

    Organism-specific databases

    CTDi 6584.
    GeneCardsi GC05P131733.
    GeneReviewsi SLC22A5.
    HGNCi HGNC:10969. SLC22A5.
    MIMi 212140. phenotype.
    603377. gene.
    neXtProti NX_O76082.
    Orphaneti 158. Systemic primary carnitine deficiency.
    PharmGKBi PA333.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0477.
    HOGENOMi HOG000234570.
    HOVERGENi HBG061545.
    InParanoidi O76082.
    KOi K08202.
    OMAi ILWMIIS.
    OrthoDBi EOG7C8GH9.
    PhylomeDBi O76082.
    TreeFami TF315847.

    Enzyme and pathway databases

    Reactomei REACT_22357. Organic cation transport.

    Miscellaneous databases

    GeneWikii SLC22A5.
    GenomeRNAii 6584.
    NextBioi 25621.
    PROi O76082.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O76082.
    Bgeei O76082.
    CleanExi HS_SLC22A5.
    Genevestigatori O76082.

    Family and domain databases

    InterProi IPR020846. MFS_dom.
    IPR016196. MFS_dom_general_subst_transpt.
    IPR004749. Orgcat_transp.
    IPR005828. Sub_transporter.
    IPR005829. Sugar_transporter_CS.
    [Graphical view ]
    Pfami PF00083. Sugar_tr. 1 hit.
    [Graphical view ]
    SUPFAMi SSF103473. SSF103473. 1 hit.
    TIGRFAMsi TIGR00898. 2A0119. 1 hit.
    PROSITEi PS50850. MFS. 1 hit.
    PS00216. SUGAR_TRANSPORT_1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family."
      Wu X., Prasad P.D., Leibach F.H., Ganapathy V.
      Biochem. Biophys. Res. Commun. 246:589-595(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2."
      Tamai I., Ohashi R., Nezu J., Yabuuchi H., Oku A., Shimane M., Sai Y., Tsuji A.
      J. Biol. Chem. 273:20378-20382(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Kidney.
    3. "Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter."
      Nezu J., Tamai I., Oku A., Ohashi R., Yabuuchi H., Hashimoto N., Nikaido H., Sai Y., Koizumi A., Shoji Y., Takada G., Matsuishi T., Yashino M., Kato H., Ohura T., Tsujimoto G., Hayakawa J., Shimane M., Tsuji A.
      Nat. Genet. 21:91-94(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
    4. "OCTN2VT, a splice variant of OCTN2, does not transport carnitine because of the retention in the endoplasmic reticulum caused by insertion of 24 amino acids in the first extracellular loop of OCTN2."
      Maekawa S., Mori D., Nishiya T., Takikawa O., Horinouchi T., Nishimoto A., Kajita E., Miwa S.
      Biochim. Biophys. Acta 1773:1000-1006(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Trachea.
    6. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Lung.
    9. "Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter."
      Wu X., Huang W., Prasad P.D., Seth P., Rajan D.P., Leibach F.H., Chen J., Conway S.J., Ganapathy V.
      J. Pharmacol. Exp. Ther. 290:1482-1492(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY.
    10. "Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins."
      Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M., Schiess R., Aebersold R., Watts J.D.
      Nat. Biotechnol. 27:378-386(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-57 AND ASN-91.
      Tissue: Leukemic T-cell.
    11. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-486, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    12. "Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality."
      Burwinkel B., Kreuder J., Schweitzer S., Vorgerd M., Gempel K., Gerbitz K.-D., Kilimann M.W.
      Biochem. Biophys. Res. Commun. 261:484-487(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CDSP GLN-169.
    13. "Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency."
      Vaz F.M., Scholte H.R., Ruiter J., Hussaarts-Odijk L.M., Rodrigues Pereira R., Schweitzer S., de Klerk J.B.C., Waterham H.R., Wanders R.J.A.
      Hum. Genet. 105:157-161(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CDSP CYS-211.
    14. "Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency."
      Tang N.L., Ganapathy V., Wu X., Hui J., Seth P., Yuen P.M., Wanders R.J., Fok T.F., Hjelm N.M.
      Hum. Mol. Genet. 8:655-660(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CDSP LEU-478.
    15. "Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency."
      Koizumi A., Nozaki J., Ohura T., Kayo T., Wada Y., Nezu J., Ohashi R., Tamai I., Shoji Y., Takada G., Kibira S., Matsuishi T., Tsuji A.
      Hum. Mol. Genet. 8:2247-2254(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CDSP LEU-179; CYS-283 AND CYS-467, CHARACTERIZATION OF VARIANTS CDSP LEU-179; CYS-283 AND CYS-467.
    16. "Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function."
      Seth P., Wu X., Huang W., Leibach F.H., Ganapathy V.
      J. Biol. Chem. 274:33388-33392(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANT CDSP LEU-478, MUTAGENESIS.
    17. "Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency."
      Mayatepek E., Nezu J., Tamai I., Oku A., Katsura M., Shimane M., Tsuji A.
      Hum. Mutat. 15:118-118(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CDSP ARG-283 AND PHE-446.
    18. "A missense mutation in the OCTN2 gene associated with residual carnitine transport activity."
      Wang Y., Kelly M.A., Cowan T.M., Longo N.
      Hum. Mutat. 15:238-245(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, VARIANT CDSP LYS-452.
    19. "Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation."
      Wang Y., Taroni F., Garavaglia B., Longo N.
      Hum. Mutat. 16:401-407(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CDSP TRP-169; VAL-242; ASP-301 AND ARG-351, CHARACTERIZATION OF VARIANTS CDSP TRP-169; VAL-242; ASP-301 AND ARG-351.
    20. "Phenotype and genotype variation in primary carnitine deficiency."
      Wang Y., Korman S.H., Ye J., Gargus J.J., Gutman A., Taroni F., Garavaglia B., Longo N.
      Genet. Med. 3:387-392(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CDSP PRO-19 AND GLN-399, CHARACTERIZATION OF VARIANTS CDSP PRO-19 AND GLN-399.
    21. "Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy."
      Makhseed N., Vallance H.D., Potter M., Waters P.J., Wong L.T.K., Lillquist Y., Pasquali M., Amat di San Filippo C., Longo N.
      J. Inherit. Metab. Dis. 27:778-780(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CDSP LEU-83.
    22. "Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene."
      Dobrowolski S.F., McKinney J.T., Amat di San Filippo C., Giak Sim K., Wilcken B., Longo N.
      Hum. Mutat. 25:306-313(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CDSP PRO-19; LEU-83; TRP-169; MET-232; VAL-242; ASP-301; ARG-351; GLN-399; CYS-447; ASP-449; LYS-452 AND ARG-468, CHARACTERIZATION OF VARIANTS MET-232 AND ARG-468.
    23. Cited for: VARIANTS LEU-17; PHE-144; ASP-449; ILE-481; PHE-481; LEU-508; VAL-530 AND SER-549.
    24. Cited for: VARIANTS CDSP SER-32; SER-46; CYS-467 AND CYS-488, CHARACTERIZATION OF VARIANT CDSP SER-46.
    25. "Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects."
      El-Hattab A.W., Li F.-Y., Shen J., Powell B.R., Bawle E.V., Adams D.J., Wahl E., Kobori J.A., Graham B., Scaglia F., Wong L.-J.
      Genet. Med. 12:19-24(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CDSP TRP-15; SER-46; LEU-83; SER-142; VAL-214; MET-232; TRP-399 AND ILE-442.
    26. "Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency."
      Li F.-Y., El-Hattab A.W., Bawle E.V., Boles R.G., Schmitt E.S., Scaglia F., Wong L.-J.
      Hum. Mutat. 31:E1632-E1651(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CDSP SER-12; TRP-15; LEU-17; SER-32; SER-46; LEU-83; TYR-122; SER-142; TRP-169; GLN-169; PRO-186; VAL-214; HIS-227; MET-232; TRP-257; ARG-264; GLN-282; LEU-355; LEU-398; TRP-399; MET-440; ILE-442; VAL-443; ASP-449; LYS-452; ARG-455; CYS-467; CYS-488 AND SER-507, VARIANTS PRO-66; PRO-75; ALA-96; GLY-123; LEU-143; VAL-177; LEU-230; THR-240; VAL-312; ASN-358 AND SER-549.
    27. "Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening."
      Lee N.-C., Tang N.-L., Chien Y.-H., Chen C.-A., Lin S.-J., Chiu P.-C., Huang A.-C., Hwu W.-L.
      Mol. Genet. Metab. 100:46-50(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CDSP LEU-17; ARG-234; GLN-282; LEU-362; CYS-467 AND CYS-471, VARIANT LEU-143.
    28. Cited for: VARIANTS CDSP TRP-15; PRO-19; PHE-22 DEL; ASN-26; SER-32; SER-46; LEU-83; SER-142; GLN-169; TRP-169; VAL-214; MET-232; PHE-280; GLN-282; ARG-283; ARG-351; MET-440; ILE-442; PHE-446; CYS-447; CYS-467; PRO-471 AND HIS-488, CHARACTERIZATION OF VARIANTS CDSP TRP-15; PRO-19; PHE-22 DEL; ASN-26; SER-32; SER-46; LEU-83; GLN-169; TRP-169; VAL-214; MET-232; PHE-280; GLN-282; ARG-283; ARG-351; MET-440; ILE-442; PHE-446; CYS-447; CYS-467 AND PRO-471.

    Entry informationi

    Entry nameiS22A5_HUMAN
    AccessioniPrimary (citable) accession number: O76082
    Secondary accession number(s): A2Q0V1
    , B2R844, D3DQ87, Q6ZQZ8, Q96EH6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: November 1, 1998
    Last modified: October 1, 2014
    This is version 138 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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

    Miscellaneous

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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3