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Entry version 110 (16 Oct 2019)
Sequence version 3 (28 Nov 2012)
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Protein

Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene B protein

Gene

SLC22A18AS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at transcript leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene B protein
Alternative name(s):
Organic cation transporter-like protein 2 antisense protein
Solute carrier family 22 member 1-like antisense protein
Solute carrier family 22 member 18 antisense protein
p27-Beckwith-Wiedemann region 1 B
Short name:
p27-BWR1B
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC22A18AS
Synonyms:BWR1B, BWSCR1B, ORCTL2S, SLC22A1LS
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10965 SLC22A18AS

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603240 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N1D0

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
5003

Open Targets

More...
OpenTargetsi
ENSG00000254827

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35847

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8N1D0

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC22A18AS

Domain mapping of disease mutations (DMDM)

More...
DMDMi
425906069

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000761871 – 253Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene B proteinAdd BLAST253

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8N1D0

PRoteomics IDEntifications database

More...
PRIDEi
Q8N1D0

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
21827
71586 [Q8N1D0-1]
71587 [Q8N1D0-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N1D0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8N1D0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Most abundantly expressed in gastrointestinal tissues. Expressed at lower levels in kidney and placenta. Expressed in fetal brain, liver, placenta, kidney and lung.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000254827 Expressed in 94 organ(s), highest expression level in mucosa of transverse colon

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N1D0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA068288

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

Protein interaction database and analysis system

More...
IntActi
Q8N1D0, 5 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000433282

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410KFEY Eukaryota
ENOG41112ZN LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00530000067982

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N1D0

Identification of Orthologs from Complete Genome Data

More...
OMAi
EGMWENC

Database of Orthologous Groups

More...
OrthoDBi
1126135at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N1D0

TreeFam database of animal gene trees

More...
TreeFami
TF341850

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q8N1D0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
        10         20         30         40         50
MGELPGSEGM WENCPLGWVK KKASGTLAPL DFLLQRKRLW LWASEPVRPQ
60 70 80 90 100
PQGIHRFREA RRQFCRMRGS RLTGGRKGFG SSGLRFGRGG FSEEVMPQPV
110 120 130 140 150
LKAMRCAEGA WWFSPDGPAG SAASIWPAEG AEGLPGQLGR DRLEVVYSVP
160 170 180 190 200
DNVPGQNGSR RPLVCKITGK CLSVCSEENA KAGGCSAFPL LLSQLGARMT
210 220 230 240 250
GREHAHKGPE LTTPDSGLPR PPNPALAGFR ALAQHSPPLG TSTPSAVLLS

AAT
Length:253
Mass (Da):27,061
Last modified:November 28, 2012 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i2E72F1460693D249
GO
Isoform 2 (identifier: Q8N1D0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-103: Missing.

Note: No experimental confirmation available.
Show »
Length:150
Mass (Da):15,438
Checksum:i28AE29687AAE9C13
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06888689G → D2 PublicationsCorresponds to variant dbSNP:rs365605Ensembl.1
Natural variantiVAR_024064133G → R2 PublicationsCorresponds to variant dbSNP:rs441071Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0164991 – 103Missing in isoform 2. 1 PublicationAdd BLAST103

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF037066 mRNA Translation: AAC04789.1
AF035407 mRNA Translation: AAC17497.1
AC013791 Genomic DNA No translation available.
BC030237 mRNA Translation: AAH30237.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS81541.1 [Q8N1D0-2]

NCBI Reference Sequences

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RefSeqi
NP_001289791.1, NM_001302862.1 [Q8N1D0-2]
NP_009036.2, NM_007105.3 [Q8N1D0-1]
XP_016873323.1, XM_017017834.1 [Q8N1D0-2]
XP_016873324.1, XM_017017835.1 [Q8N1D0-2]
XP_016873325.1, XM_017017836.1 [Q8N1D0-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000455942; ENSP00000488024; ENSG00000254827 [Q8N1D0-2]
ENST00000526203; ENSP00000487669; ENSG00000254827 [Q8N1D0-2]
ENST00000625099; ENSP00000487968; ENSG00000254827 [Q8N1D0-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
5003

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:5003

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF037066 mRNA Translation: AAC04789.1
AF035407 mRNA Translation: AAC17497.1
AC013791 Genomic DNA No translation available.
BC030237 mRNA Translation: AAH30237.1
CCDSiCCDS81541.1 [Q8N1D0-2]
RefSeqiNP_001289791.1, NM_001302862.1 [Q8N1D0-2]
NP_009036.2, NM_007105.3 [Q8N1D0-1]
XP_016873323.1, XM_017017834.1 [Q8N1D0-2]
XP_016873324.1, XM_017017835.1 [Q8N1D0-2]
XP_016873325.1, XM_017017836.1 [Q8N1D0-2]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

IntActiQ8N1D0, 5 interactors
STRINGi9606.ENSP00000433282

PTM databases

iPTMnetiQ8N1D0
PhosphoSitePlusiQ8N1D0

Polymorphism and mutation databases

BioMutaiSLC22A18AS
DMDMi425906069

Proteomic databases

PaxDbiQ8N1D0
PRIDEiQ8N1D0
ProteomicsDBi21827
71586 [Q8N1D0-1]
71587 [Q8N1D0-2]

Genome annotation databases

EnsembliENST00000455942; ENSP00000488024; ENSG00000254827 [Q8N1D0-2]
ENST00000526203; ENSP00000487669; ENSG00000254827 [Q8N1D0-2]
ENST00000625099; ENSP00000487968; ENSG00000254827 [Q8N1D0-1]
GeneIDi5003
KEGGihsa:5003

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5003
DisGeNETi5003

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SLC22A18AS
HGNCiHGNC:10965 SLC22A18AS
HPAiHPA068288
MIMi603240 gene
neXtProtiNX_Q8N1D0
OpenTargetsiENSG00000254827
PharmGKBiPA35847

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410KFEY Eukaryota
ENOG41112ZN LUCA
GeneTreeiENSGT00530000067982
InParanoidiQ8N1D0
OMAiEGMWENC
OrthoDBi1126135at2759
PhylomeDBiQ8N1D0
TreeFamiTF341850

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
5003
PharosiQ8N1D0

Protein Ontology

More...
PROi
PR:Q8N1D0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000254827 Expressed in 94 organ(s), highest expression level in mucosa of transverse colon
GenevisibleiQ8N1D0 HS

Family and domain databases

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiBWR1B_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8N1D0
Secondary accession number(s): E9PLK8, O43563
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: November 28, 2012
Last modified: October 16, 2019
This is version 110 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  2. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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