Skip Header

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

Q96BI1

- S22AI_HUMAN

UniProt

Q96BI1 - S22AI_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Solute carrier family 22 member 18

Gene

SLC22A18

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. drug transmembrane transporter activity Source: UniProtKB
  2. symporter activity Source: UniProtKB-KW
  3. ubiquitin protein ligase binding Source: UniProtKB

GO - Biological processi

  1. drug transmembrane transport Source: GOC
  2. drug transport Source: UniProtKB
  3. excretion Source: UniProtKB
  4. organic cation transport Source: UniProtKB
  5. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Ion transport, Symport, Transport

Enzyme and pathway databases

ReactomeiREACT_22357. 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
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:10964. SLC22A18.

Subcellular locationi

Apical cell membrane Curated; Multi-pass membrane protein Curated
Note: Localized at the apical membrane surface of renal proximal tubules.1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei26 – 4621HelicalSequence AnalysisAdd
BLAST
Transmembranei59 – 7921HelicalSequence AnalysisAdd
BLAST
Transmembranei90 – 11021HelicalSequence AnalysisAdd
BLAST
Transmembranei156 – 17621HelicalSequence AnalysisAdd
BLAST
Transmembranei184 – 20421HelicalSequence AnalysisAdd
BLAST
Transmembranei243 – 26321HelicalSequence AnalysisAdd
BLAST
Transmembranei276 – 29621HelicalSequence AnalysisAdd
BLAST
Transmembranei312 – 33221HelicalSequence AnalysisAdd
BLAST
Transmembranei334 – 35421HelicalSequence AnalysisAdd
BLAST
Transmembranei391 – 41121HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. apical plasma membrane Source: UniProtKB
  2. cytoplasm Source: UniProtKB
  3. integral component of membrane Source: UniProtKB
  4. membrane Source: UniProtKB
  5. nuclear envelope Source: UniProtKB
  6. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Lung cancer (LNCR) [MIM:211980]: A 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.1 Publication
Note: The gene represented in this entry may be involved in disease pathogenesis.
Rhabdomyosarcoma, embryonal, 1 (RMSE1) [MIM:268210]: A 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.
Note: The disease may be caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi114480. phenotype.
211980. phenotype.
268210. phenotype.
PharmGKBiPA35846.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 424424Solute carrier family 22 member 18PRO_0000220509Add
BLAST

Proteomic databases

MaxQBiQ96BI1.
PaxDbiQ96BI1.
PRIDEiQ96BI1.

PTM databases

PhosphoSiteiQ96BI1.

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

BgeeiQ96BI1.
CleanExiHS_SLC22A18.
ExpressionAtlasiQ96BI1. baseline and differential.
GenevestigatoriQ96BI1.

Interactioni

Subunit structurei

Interacts with RNF167.1 Publication

Protein-protein interaction databases

BioGridi111044. 5 interactions.
STRINGi9606.ENSP00000307859.

Structurei

3D structure databases

ProteinModelPortaliQ96BI1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0477.
GeneTreeiENSGT00770000120604.
HOVERGENiHBG082086.
InParanoidiQ96BI1.
KOiK08214.
OMAiGLFMVMF.
OrthoDBiEOG747PJ1.
PhylomeDBiQ96BI1.
TreeFamiTF352510.

Family and domain databases

InterProiIPR011701. MFS.
IPR020846. MFS_dom.
IPR016196. MFS_dom_general_subst_transpt.
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 AAB82727.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence BAA32779.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti84 – 841D → N in AAC17492. (PubMed:9520460)Curated
Sequence conflicti227 – 2271D → E in AAB82727. (PubMed:9499412)Curated
Sequence conflicti227 – 2271D → E in AAC23505. 1 PublicationCurated
Sequence conflicti230 – 2301A → G in AAB82727. (PubMed:9499412)Curated
Sequence conflicti230 – 2301A → G in AAC23505. 1 PublicationCurated
Sequence conflicti242 – 2421R → K in AAB82727. (PubMed:9499412)Curated
Sequence conflicti242 – 2421R → K in AAC23505. 1 PublicationCurated
Sequence conflicti275 – 2751Q → K in AAB82727. (PubMed:9499412)Curated
Sequence conflicti275 – 2751Q → K in AAC23505. 1 PublicationCurated
Sequence conflicti307 – 3071L → M in AAC04787. (PubMed:9570947)Curated
Sequence conflicti309 – 3091R → G in AAB82727. (PubMed:9499412)Curated
Sequence conflicti309 – 3091R → G in AAC23505. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti6 – 61A → T.1 Publication
Corresponds to variant rs1048046 [ dbSNP | Ensembl ].
VAR_055406
Natural varianti12 – 121R → Q.4 Publications
Corresponds to variant rs1048047 [ dbSNP | Ensembl ].
VAR_055407
Natural varianti86 – 861R → C in a rhabdomyosarcoma sample. 1 Publication
VAR_024061
Natural varianti233 – 2331S → F in lung cancer; somatic mutation. 1 Publication
VAR_024062
Natural varianti309 – 3091R → Q.1 Publication
Corresponds to variant rs141165353 [ dbSNP | Ensembl ].
VAR_024063
Natural varianti324 – 3241W → C.
Corresponds to variant rs1129782 [ dbSNP | Ensembl ].
VAR_055408

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_002546.3. NM_002555.5.
NP_899056.2. NM_183233.2.
XP_006718306.1. XM_006718243.1.
UniGeneiHs.50868.

Genome annotation databases

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

Polymorphism databases

DMDMi238054368.

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 .
CCDSi CCDS7740.1.
RefSeqi NP_002546.3. NM_002555.5.
NP_899056.2. NM_183233.2.
XP_006718306.1. XM_006718243.1.
UniGenei Hs.50868.

3D structure databases

ProteinModelPortali Q96BI1.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111044. 5 interactions.
STRINGi 9606.ENSP00000307859.

Protein family/group databases

TCDBi 2.A.1.2.53. the major facilitator superfamily (mfs).

PTM databases

PhosphoSitei Q96BI1.

Polymorphism databases

DMDMi 238054368.

Proteomic databases

MaxQBi Q96BI1.
PaxDbi Q96BI1.
PRIDEi Q96BI1.

Protocols and materials databases

DNASUi 5002.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000312221 ; ENSP00000311139 ; ENSG00000110628 .
ENST00000347936 ; ENSP00000307859 ; ENSG00000110628 .
ENST00000380574 ; ENSP00000369948 ; ENSG00000110628 .
GeneIDi 5002.
KEGGi hsa:5002.
UCSCi uc001lwx.3. human.

Organism-specific databases

CTDi 5002.
GeneCardsi GC11P002920.
H-InvDB HIX0019391.
HGNCi HGNC:10964. SLC22A18.
MIMi 114480. phenotype.
211980. phenotype.
268210. phenotype.
602631. gene.
neXtProti NX_Q96BI1.
PharmGKBi PA35846.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0477.
GeneTreei ENSGT00770000120604.
HOVERGENi HBG082086.
InParanoidi Q96BI1.
KOi K08214.
OMAi GLFMVMF.
OrthoDBi EOG747PJ1.
PhylomeDBi Q96BI1.
TreeFami TF352510.

Enzyme and pathway databases

Reactomei REACT_22357. Organic cation transport.

Miscellaneous databases

GeneWikii SLC22A18.
GenomeRNAii 5002.
NextBioi 19262.
PROi Q96BI1.
SOURCEi Search...

Gene expression databases

Bgeei Q96BI1.
CleanExi HS_SLC22A18.
ExpressionAtlasi Q96BI1. baseline and differential.
Genevestigatori Q96BI1.

Family and domain databases

InterProi IPR011701. MFS.
IPR020846. MFS_dom.
IPR016196. MFS_dom_general_subst_transpt.
IPR001958. Tet-R_TetA/multi-R_MdtG.
[Graphical view ]
Pfami PF07690. MFS_1. 1 hit.
[Graphical view ]
PRINTSi PR01035. TCRTETA.
SUPFAMi SSF103473. SSF103473. 1 hit.
PROSITEi PS50850. MFS. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Somatic mutation of TSSC5, a novel imprinted gene from human chromosome 11p15.5."
    Lee M.P., Reeves C., Schmitt A., Su K., Connors T.D., Hu R.J., Brandenburg S., Lee M.J., Miller G., Feinberg A.P.
    Cancer Res. 58:4155-4159(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLN-309, VARIANT LUNG CANCER PHE-233.
  2. "A novel gene, ITM, located between p57KIP2 and IPL, is imprinted in mice."
    Morisaki H., Hatada I., Morisaki T., Mukai T.
    DNA Res. 5:235-240(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "Divergently transcribed overlapping genes expressed in liver and kidney and located in the 11p15.5 imprinted domain."
    Cooper P.R., Smilinich N.J., Day C.D., Nowak N.J., Reid L.H., Pearsall R.S., Reece M., Prawitt D., Landers J., Housman D.E., Winterpacht A., Zabel B.U., Pelletier J., Weissman B.E., Shows T.B., Higgins M.J.
    Genomics 49:38-51(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANT GLN-12.
  4. "IMPT1, an imprinted gene similar to polyspecific transporter and multi-drug resistance genes."
    Dao D., Frank D., Qian N., O'Keefe D., Vosatka R.J., Walsh C.P., Tycko B.
    Hum. Mol. Genet. 7:597-608(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    Tissue: Placenta.
  5. "Transcriptional map of 170-kb region at chromosome 11p15.5: identification and mutational analysis of the BWR1A gene reveals the presence of mutations in tumor samples."
    Schwienbacher C., Sabbioni S., Campi M., Veronese A., Bernardi G., Menegatti A., Hatada I., Mukai T., Ohashi H., Barbanti-Brodano G., Croce C.M., Negrini M.
    Proc. Natl. Acad. Sci. U.S.A. 95:3873-3878(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS THR-6 AND GLN-12; CYS-86, TISSUE SPECIFICITY.
  6. "Monoallelic expression of the gene encoding a human efflux transporter like protein (HET), on chromosome 11p15.5."
    Chen P., Shen W., Karnik P.
    Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLN-12.
  7. "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], VARIANT GLN-12.
    Tissue: Placenta.
  8. "Functional characterization of ORCTL2 -- an organic cation transporter expressed in the renal proximal tubules."
    Reece M., Prawitt D., Landers J., Kast C., Gros P., Housman D., Zabel B.U., Pelletier J.
    FEBS Lett. 433:245-250(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  9. "Tumor suppressor candidate TSSC5 is regulated by UbcH6 and a novel ubiquitin ligase RING105."
    Yamada H.Y., Gorbsky G.J.
    Oncogene 25:1330-1339(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH RNF167.

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 26, 2014
This is version 112 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

External Data

Dasty 3