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O76082

- S22A5_HUMAN

UniProt

O76082 - S22A5_HUMAN

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Protein
Solute carrier family 22 member 5
Gene
SLC22A5, OCTN2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi218 – 2258ATP Reviewed prediction

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. PDZ domain binding Source: BHF-UCL
  3. antibiotic transporter activity Source: Ensembl
  4. carnitine transmembrane transporter activity Source: BHF-UCL
  5. drug transmembrane transporter activity 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 ion transport Source: UniProtKB-KW
  9. sodium-dependent organic cation transport Source: BHF-UCL
  10. transmembrane transport Source: Reactome
Complete GO annotation...

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; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2020Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei21 – 4121Helical; Name=1; Reviewed prediction
Add
BLAST
Topological domaini42 – 142101Extracellular Reviewed prediction
Add
BLAST
Transmembranei143 – 16321Helical; Name=2; Reviewed prediction
Add
BLAST
Topological domaini164 – 1729Cytoplasmic Reviewed prediction
Transmembranei173 – 19321Helical; Name=3; Reviewed prediction
Add
BLAST
Topological domaini194 – 1974Extracellular Reviewed prediction
Transmembranei198 – 21821Helical; Name=4; Reviewed prediction
Add
BLAST
Topological domaini219 – 23214Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei233 – 25321Helical; Name=5; Reviewed prediction
Add
BLAST
Topological domaini254 – 2574Extracellular Reviewed prediction
Transmembranei258 – 27821Helical; Name=6; Reviewed prediction
Add
BLAST
Topological domaini279 – 34163Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei342 – 36221Helical; Name=7; Reviewed prediction
Add
BLAST
Topological domaini363 – 37311Extracellular Reviewed prediction
Add
BLAST
Transmembranei374 – 39421Helical; Name=8; Reviewed prediction
Add
BLAST
Topological domaini395 – 40612Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei407 – 42721Helical; Name=9; Reviewed prediction
Add
BLAST
Topological domaini428 – 4303Extracellular Reviewed prediction
Transmembranei431 – 45121Helical; Name=10; Reviewed prediction
Add
BLAST
Topological domaini452 – 46211Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei463 – 48321Helical; Name=11; Reviewed prediction
Add
BLAST
Topological domaini484 – 4885Extracellular Reviewed prediction
Transmembranei489 – 50921Helical; Name=12; Reviewed prediction
Add
BLAST

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.16 Publications
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. 2 Publications
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.

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 5
PRO_0000220500Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi57 – 571N-linked (GlcNAc...)1 Publication
Glycosylationi64 – 641N-linked (GlcNAc...) Reviewed prediction
Glycosylationi91 – 911N-linked (GlcNAc...)1 Publication
Modified residuei486 – 4861Phosphotyrosine1 Publication
Modified residuei550 – 5501Phosphothreonine By 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.

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

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. 2 Publications
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.
VSP_011120Add
BLAST
Alternative sequencei131 – 1311E → EQDSGAYNAMKNRMGKKPAL CLPAQ in isoform 3.
VSP_043904
Alternative sequencei337 – 35115TWNIR…SIMLW → MWILLFQLSSALCFR in isoform 2.
VSP_011121Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti114 – 1141L → P in AAH12325. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 137 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

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