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Protein

Solute carrier family 22 member 18

Gene

SLC22A18

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May act as a transporter of organic cations based on a proton efflux antiport mechanism. May play a role in the transport of chloroquine and quinidine-related compounds in kidney.1 Publication

GO - Molecular functioni

  • drug:proton antiporter activity Source: Reactome
  • drug transmembrane transporter activity Source: UniProtKB
  • symporter activity Source: UniProtKB-KW
  • ubiquitin protein ligase binding Source: UniProtKB

GO - Biological processi

  • drug transport Source: UniProtKB
  • excretion Source: UniProtKB
  • organic cation transport Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Ion transport, Symport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000110628-MONOMER.
ReactomeiR-HSA-549127. Organic cation transport.

Protein family/group databases

TCDBi2.A.1.2.53. the major facilitator superfamily (mfs).

Names & Taxonomyi

Protein namesi
Recommended name:
Solute carrier family 22 member 18
Alternative name(s):
Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene A protein
Efflux transporter-like protein
Imprinted multi-membrane-spanning polyspecific transporter-related protein 1
Organic cation transporter-like protein 2
Short name:
ORCTL-2
Solute carrier family 22 member 1-like
Tumor-suppressing STF cDNA 5 protein
Tumor-suppressing subchromosomal transferable fragment candidate gene 5 protein
p45-Beckwith-Wiedemann region 1 A
Short name:
p45-BWR1A
Gene namesi
Name:SLC22A18
Synonyms:BWR1A, BWSCR1A, HET, IMPT1, ITM, ORCTL2, SLC22A1L, TSSC5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:10964. SLC22A18.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei26 – 46HelicalSequence analysisAdd BLAST21
Transmembranei59 – 79HelicalSequence analysisAdd BLAST21
Transmembranei90 – 110HelicalSequence analysisAdd BLAST21
Transmembranei156 – 176HelicalSequence analysisAdd BLAST21
Transmembranei184 – 204HelicalSequence analysisAdd BLAST21
Transmembranei243 – 263HelicalSequence analysisAdd BLAST21
Transmembranei276 – 296HelicalSequence analysisAdd BLAST21
Transmembranei312 – 332HelicalSequence analysisAdd BLAST21
Transmembranei334 – 354HelicalSequence analysisAdd BLAST21
Transmembranei391 – 411HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • apical plasma membrane Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • integral component of membrane Source: UniProtKB
  • membrane Source: UniProtKB
  • nuclear envelope Source: UniProtKB
  • plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Lung cancer (LNCR)1 Publication
The gene represented in this entry may be involved in disease pathogenesis.
Disease descriptionA common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis.
See also OMIM:211980
Rhabdomyosarcoma, embryonal, 1 (RMSE1)
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas.
See also OMIM:268210

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi5002.
MalaCardsiSLC22A18.
MIMi114480. phenotype.
211980. phenotype.
268210. phenotype.
OpenTargetsiENSG00000110628.
PharmGKBiPA35846.

Polymorphism and mutation databases

BioMutaiSLC22A18.
DMDMi238054368.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002205091 – 424Solute carrier family 22 member 18Add BLAST424

Proteomic databases

EPDiQ96BI1.
MaxQBiQ96BI1.
PaxDbiQ96BI1.
PeptideAtlasiQ96BI1.
PRIDEiQ96BI1.

PTM databases

iPTMnetiQ96BI1.
PhosphoSitePlusiQ96BI1.

Expressioni

Tissue specificityi

Expressed at high levels in adult and fetal kidney and liver, and adult colon. Expressed in fetal renal proximal tubules (at protein level). Expressed at lower levels in heart, brain and lung.4 Publications

Gene expression databases

BgeeiENSG00000110628.
CleanExiHS_SLC22A18.
ExpressionAtlasiQ96BI1. baseline and differential.
GenevisibleiQ96BI1. HS.

Interactioni

Subunit structurei

Interacts with RNF167.1 Publication

GO - Molecular functioni

  • ubiquitin protein ligase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi111044. 26 interactors.
IntActiQ96BI1. 4 interactors.
STRINGi9606.ENSP00000307859.

Structurei

3D structure databases

ProteinModelPortaliQ96BI1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IIP5. Eukaryota.
ENOG4111F2C. LUCA.
GeneTreeiENSGT00830000128359.
HOVERGENiHBG082086.
InParanoidiQ96BI1.
KOiK08214.
OMAiLMWPSFL.
OrthoDBiEOG091G0H3E.
PhylomeDBiQ96BI1.
TreeFamiTF352510.

Family and domain databases

CDDicd06174. MFS. 1 hit.
InterProiIPR011701. MFS.
IPR020846. MFS_dom.
IPR001958. Tet-R_TetA/multi-R_MdtG.
[Graphical view]
PfamiPF07690. MFS_1. 1 hit.
[Graphical view]
PRINTSiPR01035. TCRTETA.
SUPFAMiSSF103473. SSF103473. 1 hit.
PROSITEiPS50850. MFS. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q96BI1-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MQGARAPRDQ GRSPGRMSAL GRSSVILLTY VLAATELTCL FMQFSIVPYL
60 70 80 90 100
SRKLGLDSIA FGYLQTTFGV LQLLGGPVFG RFADQRGARA ALTLSFLAAL
110 120 130 140 150
ALYLLLAAAS SPALPGVYLL FASRLPGALM HTLPAAQMVI TDLSAPEERP
160 170 180 190 200
AALGRLGLCF GVGVILGSLL GGTLVSAYGI QCPAILAALA TLLGAVLSFT
210 220 230 240 250
CIPASTKGAK TDAQAPLPGG PRASVFDLKA IASLLRLPDV PRIFLVKVAS
260 270 280 290 300
NCPTGLFMVM FSIISMDFFQ LEAAQAGYLM SFFGLLQMVT QGLVIGQLSS
310 320 330 340 350
HFSEEVLLRA SVLVFIVVGL AMAWMSSVFH FCLLVPGLVF SLCTLNVVTD
360 370 380 390 400
SMLIKAVSTS DTGTMLGLCA SVQPLLRTLG PTVGGLLYRS FGVPVFGHVQ
410 420
VAINTLVLLV LWRKPMPQRK DKVR
Length:424
Mass (Da):44,846
Last modified:May 26, 2009 - v3
Checksum:i9EFD5F902A77A6E8
GO

Sequence cautioni

The sequence AAB82727 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA32779 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti84D → N in AAC17492 (PubMed:9520460).Curated1
Sequence conflicti227D → E in AAB82727 (PubMed:9499412).Curated1
Sequence conflicti227D → E in AAC23505 (Ref. 6) Curated1
Sequence conflicti230A → G in AAB82727 (PubMed:9499412).Curated1
Sequence conflicti230A → G in AAC23505 (Ref. 6) Curated1
Sequence conflicti242R → K in AAB82727 (PubMed:9499412).Curated1
Sequence conflicti242R → K in AAC23505 (Ref. 6) Curated1
Sequence conflicti275Q → K in AAB82727 (PubMed:9499412).Curated1
Sequence conflicti275Q → K in AAC23505 (Ref. 6) Curated1
Sequence conflicti307L → M in AAC04787 (PubMed:9570947).Curated1
Sequence conflicti309R → G in AAB82727 (PubMed:9499412).Curated1
Sequence conflicti309R → G in AAC23505 (Ref. 6) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0554066A → T.1 PublicationCorresponds to variant rs1048046dbSNPEnsembl.1
Natural variantiVAR_05540712R → Q.4 PublicationsCorresponds to variant rs1048047dbSNPEnsembl.1
Natural variantiVAR_02406186R → C in a rhabdomyosarcoma sample. 1 Publication1
Natural variantiVAR_024062233S → F in lung cancer; somatic mutation. 1 PublicationCorresponds to variant rs121909071dbSNPEnsembl.1
Natural variantiVAR_024063309R → Q.1 PublicationCorresponds to variant rs141165353dbSNPEnsembl.1
Natural variantiVAR_055408324W → C.Corresponds to variant rs1129782dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF059663 mRNA. Translation: AAC14725.1.
AB012083 mRNA. Translation: BAA32779.1. Different initiation.
AF037064 mRNA. Translation: AAC04787.1.
AF028738 mRNA. Translation: AAB82727.1. Different initiation.
AF030302 mRNA. Translation: AAC17492.1.
AF070479 mRNA. Translation: AAC23505.1.
BC015571 mRNA. Translation: AAH15571.1.
CCDSiCCDS7740.1.
RefSeqiNP_001302430.1. NM_001315501.1.
NP_001302431.1. NM_001315502.1.
NP_002546.3. NM_002555.5.
NP_899056.2. NM_183233.2.
UniGeneiHs.50868.

Genome annotation databases

EnsembliENST00000312221; ENSP00000311139; ENSG00000110628.
ENST00000347936; ENSP00000307859; ENSG00000110628.
ENST00000380574; ENSP00000369948; ENSG00000110628.
GeneIDi5002.
KEGGihsa:5002.
UCSCiuc001lwx.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF059663 mRNA. Translation: AAC14725.1.
AB012083 mRNA. Translation: BAA32779.1. Different initiation.
AF037064 mRNA. Translation: AAC04787.1.
AF028738 mRNA. Translation: AAB82727.1. Different initiation.
AF030302 mRNA. Translation: AAC17492.1.
AF070479 mRNA. Translation: AAC23505.1.
BC015571 mRNA. Translation: AAH15571.1.
CCDSiCCDS7740.1.
RefSeqiNP_001302430.1. NM_001315501.1.
NP_001302431.1. NM_001315502.1.
NP_002546.3. NM_002555.5.
NP_899056.2. NM_183233.2.
UniGeneiHs.50868.

3D structure databases

ProteinModelPortaliQ96BI1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111044. 26 interactors.
IntActiQ96BI1. 4 interactors.
STRINGi9606.ENSP00000307859.

Protein family/group databases

TCDBi2.A.1.2.53. the major facilitator superfamily (mfs).

PTM databases

iPTMnetiQ96BI1.
PhosphoSitePlusiQ96BI1.

Polymorphism and mutation databases

BioMutaiSLC22A18.
DMDMi238054368.

Proteomic databases

EPDiQ96BI1.
MaxQBiQ96BI1.
PaxDbiQ96BI1.
PeptideAtlasiQ96BI1.
PRIDEiQ96BI1.

Protocols and materials databases

DNASUi5002.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000312221; ENSP00000311139; ENSG00000110628.
ENST00000347936; ENSP00000307859; ENSG00000110628.
ENST00000380574; ENSP00000369948; ENSG00000110628.
GeneIDi5002.
KEGGihsa:5002.
UCSCiuc001lwx.3. human.

Organism-specific databases

CTDi5002.
DisGeNETi5002.
GeneCardsiSLC22A18.
H-InvDBHIX0019391.
HGNCiHGNC:10964. SLC22A18.
MalaCardsiSLC22A18.
MIMi114480. phenotype.
211980. phenotype.
268210. phenotype.
602631. gene.
neXtProtiNX_Q96BI1.
OpenTargetsiENSG00000110628.
PharmGKBiPA35846.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIP5. Eukaryota.
ENOG4111F2C. LUCA.
GeneTreeiENSGT00830000128359.
HOVERGENiHBG082086.
InParanoidiQ96BI1.
KOiK08214.
OMAiLMWPSFL.
OrthoDBiEOG091G0H3E.
PhylomeDBiQ96BI1.
TreeFamiTF352510.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000110628-MONOMER.
ReactomeiR-HSA-549127. Organic cation transport.

Miscellaneous databases

GeneWikiiSLC22A18.
GenomeRNAii5002.
PROiQ96BI1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000110628.
CleanExiHS_SLC22A18.
ExpressionAtlasiQ96BI1. baseline and differential.
GenevisibleiQ96BI1. HS.

Family and domain databases

CDDicd06174. MFS. 1 hit.
InterProiIPR011701. MFS.
IPR020846. MFS_dom.
IPR001958. Tet-R_TetA/multi-R_MdtG.
[Graphical view]
PfamiPF07690. MFS_1. 1 hit.
[Graphical view]
PRINTSiPR01035. TCRTETA.
SUPFAMiSSF103473. SSF103473. 1 hit.
PROSITEiPS50850. MFS. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiS22AI_HUMAN
AccessioniPrimary (citable) accession number: Q96BI1
Secondary accession number(s): O14906
, O43562, O60485, O60680, Q7LDS5, Q7LGF7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: May 26, 2009
Last modified: November 30, 2016
This is version 129 of the entry and version 3 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

Caution

It is uncertain whether Met-1 or Met-17 is the initiator.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.