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Q96BI1 (S22AI_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 108. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:SLC22A18
Synonyms:BWR1A, BWSCR1A, HET, IMPT1, ITM, ORCTL2, SLC22A1L, TSSC5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length424 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.8

Subunit structure

Interacts with RNF167. Ref.9

Subcellular location

Apical cell membrane; Multi-pass membrane protein Potential. Note: Localized at the apical membrane surface of renal proximal tubules. Ref.8

Tissue specificity

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. Ref.3 Ref.4 Ref.5 Ref.8

Involvement in disease

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.
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.

Sequence similarities

Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. [View classification]

Caution

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

Sequence caution

The sequence AAB82727.1 differs from that shown. Reason: Erroneous initiation.

The sequence BAA32779.1 differs from that shown. Reason: Erroneous initiation.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 424424Solute carrier family 22 member 18
PRO_0000220509

Regions

Transmembrane26 – 4621Helical; Potential
Transmembrane59 – 7921Helical; Potential
Transmembrane90 – 11021Helical; Potential
Transmembrane156 – 17621Helical; Potential
Transmembrane184 – 20421Helical; Potential
Transmembrane243 – 26321Helical; Potential
Transmembrane276 – 29621Helical; Potential
Transmembrane312 – 33221Helical; Potential
Transmembrane334 – 35421Helical; Potential
Transmembrane391 – 41121Helical; Potential

Natural variations

Natural variant61A → T. Ref.5
Corresponds to variant rs1048046 [ dbSNP | Ensembl ].
VAR_055406
Natural variant121R → Q. Ref.3 Ref.5 Ref.6 Ref.7
Corresponds to variant rs1048047 [ dbSNP | Ensembl ].
VAR_055407
Natural variant861R → C in a rhabdomyosarcoma sample. Ref.5
VAR_024061
Natural variant2331S → F in lung cancer; somatic mutation. Ref.1
VAR_024062
Natural variant3091R → Q. Ref.1
Corresponds to variant rs141165353 [ dbSNP | Ensembl ].
VAR_024063
Natural variant3241W → C.
Corresponds to variant rs1129782 [ dbSNP | Ensembl ].
VAR_055408

Experimental info

Sequence conflict841D → N in AAC17492. Ref.5
Sequence conflict2271D → E in AAB82727. Ref.4
Sequence conflict2271D → E in AAC23505. Ref.6
Sequence conflict2301A → G in AAB82727. Ref.4
Sequence conflict2301A → G in AAC23505. Ref.6
Sequence conflict2421R → K in AAB82727. Ref.4
Sequence conflict2421R → K in AAC23505. Ref.6
Sequence conflict2751Q → K in AAB82727. Ref.4
Sequence conflict2751Q → K in AAC23505. Ref.6
Sequence conflict3071L → M in AAC04787. Ref.3
Sequence conflict3091R → G in AAB82727. Ref.4
Sequence conflict3091R → G in AAC23505. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Q96BI1 [UniParc].

Last modified May 26, 2009. Version 3.
Checksum: 9EFD5F902A77A6E8

FASTA42444,846
        10         20         30         40         50         60 
MQGARAPRDQ GRSPGRMSAL GRSSVILLTY VLAATELTCL FMQFSIVPYL SRKLGLDSIA 

        70         80         90        100        110        120 
FGYLQTTFGV LQLLGGPVFG RFADQRGARA ALTLSFLAAL ALYLLLAAAS SPALPGVYLL 

       130        140        150        160        170        180 
FASRLPGALM HTLPAAQMVI TDLSAPEERP AALGRLGLCF GVGVILGSLL GGTLVSAYGI 

       190        200        210        220        230        240 
QCPAILAALA TLLGAVLSFT CIPASTKGAK TDAQAPLPGG PRASVFDLKA IASLLRLPDV 

       250        260        270        280        290        300 
PRIFLVKVAS NCPTGLFMVM FSIISMDFFQ LEAAQAGYLM SFFGLLQMVT QGLVIGQLSS 

       310        320        330        340        350        360 
HFSEEVLLRA SVLVFIVVGL AMAWMSSVFH FCLLVPGLVF SLCTLNVVTD SMLIKAVSTS 

       370        380        390        400        410        420 
DTGTMLGLCA SVQPLLRTLG PTVGGLLYRS FGVPVFGHVQ VAINTLVLLV LWRKPMPQRK 


DKVR 

« Hide

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS7740.1.
RefSeqNP_002546.3. NM_002555.5.
NP_899056.2. NM_183233.2.
XP_006718306.1. XM_006718243.1.
UniGeneHs.50868.

3D structure databases

ProteinModelPortalQ96BI1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111044. 1 interaction.
STRING9606.ENSP00000307859.

Protein family/group databases

TCDB2.A.1.2.53. the major facilitator superfamily (mfs).

PTM databases

PhosphoSiteQ96BI1.

Polymorphism databases

DMDM238054368.

Proteomic databases

MaxQBQ96BI1.
PaxDbQ96BI1.
PRIDEQ96BI1.

Protocols and materials databases

DNASU5002.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000312221; ENSP00000311139; ENSG00000110628.
ENST00000347936; ENSP00000307859; ENSG00000110628.
ENST00000380574; ENSP00000369948; ENSG00000110628.
GeneID5002.
KEGGhsa:5002.
UCSCuc001lwx.3. human.

Organism-specific databases

CTD5002.
GeneCardsGC11P002877.
H-InvDBHIX0019391.
HGNCHGNC:10964. SLC22A18.
MIM114480. phenotype.
211980. phenotype.
268210. phenotype.
602631. gene.
neXtProtNX_Q96BI1.
PharmGKBPA35846.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0477.
HOVERGENHBG082086.
InParanoidQ96BI1.
KOK08214.
OMAGLFMVMF.
OrthoDBEOG747PJ1.
PhylomeDBQ96BI1.
TreeFamTF352510.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ96BI1.
BgeeQ96BI1.
CleanExHS_SLC22A18.
GenevestigatorQ96BI1.

Family and domain databases

InterProIPR011701. MFS.
IPR020846. MFS_dom.
IPR016196. MFS_dom_general_subst_transpt.
IPR001958. Tet-R_TetA/multi-R_MdtG.
[Graphical view]
PfamPF07690. MFS_1. 1 hit.
[Graphical view]
PRINTSPR01035. TCRTETA.
SUPFAMSSF103473. SSF103473. 1 hit.
PROSITEPS50850. MFS. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSLC22A18.
GenomeRNAi5002.
NextBio19262.
PROQ96BI1.
SOURCESearch...

Entry information

Entry nameS22AI_HUMAN
AccessionPrimary (citable) accession number: Q96BI1
Secondary accession number(s): O14906 expand/collapse secondary AC list , O43562, O60485, O60680, Q7LDS5, Q7LGF7
Entry history
Integrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: May 26, 2009
Last modified: July 9, 2014
This is version 108 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM