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UniProtKB - Q6UE05 (TM270_HUMAN)

Entry version 102 (11 Dec 2019)
Sequence version 2 (23 Oct 2007)
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Protein

Transmembrane protein 270

Gene

TMEM270

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 any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<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:
Transmembrane protein 270Curated
Alternative name(s):
Williams-Beuren syndrome chromosomal region 28 proteinImported
<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:TMEM270Imported
Synonyms:WBSCR28Imported
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000175877.3

Human Gene Nomenclature Database

More...HGNCi		HGNC:23018 TMEM270

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		612547 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q6UE05

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei72 – 92HelicalSequence analysisAdd BLAST21
Transmembranei130 – 150HelicalSequence analysisAdd BLAST21
Transmembranei185 – 205HelicalSequence analysisAdd BLAST21

<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 - Cellular componenti

Membrane

<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

Open Targets

More...OpenTargetsi		ENSG00000175877

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA145147726

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q6UE05 Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TMEM270

Domain mapping of disease mutations (DMDM)

More...DMDMi		160221324

<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_00003084151 – 265Transmembrane protein 270Add BLAST265

Proteomic databases

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

More...PaxDbi		Q6UE05

PeptideAtlas

More...PeptideAtlasi		Q6UE05

PRoteomics IDEntifications database

More...PRIDEi		Q6UE05

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		67409 [Q6UE05-1]
67410 [Q6UE05-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q6UE05

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

More...PhosphoSitePlusi		Q6UE05

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000175877 Expressed in 37 organ(s), highest expression level in right testis

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q6UE05 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA077196

<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

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		126434, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000316775

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q6UE05 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q6UE05

Database of comparative protein structure models

More...ModBasei		Search...

<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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IW1Q Eukaryota
ENOG4111CPR LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000009243

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000154841

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6UE05

Identification of Orthologs from Complete Genome Data

More...OMAi		WRVCQKA

Database of Orthologous Groups

More...OrthoDBi		1511708at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q6UE05

TreeFam database of animal gene trees

More...TreeFami		TF337697

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR029166 WBS28

The PANTHER Classification System

More...PANTHERi		PTHR37369 PTHR37369, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF15164 WBS28, 1 hit

<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: Q6UE05-1) [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
MEALPPVRSS LLGILLQVTR LSVLLVQNRD HLYNFLLLKI NLFNHWVSGL 
        60         70         80         90        100
AQEARGSCNW QAHLPLGAAA CPLGQALWAG LALIQVPVWL VLQGPRLMWA 
       110        120        130        140        150
GMWGSTKGLG LALLSAWEQL GLSVAIWTDL FLSCLHGLML VALLLVVVTW 
       160        170        180        190        200
RVCQKSHCFR LGRQLSKALQ VNCVVRKLLV QLRRLYWWVE TMTALTSWHL 
       210        220        230        240        250
AYLITWTTCL ASHLLQAAFE HTTQLAEAQE VEPQEVSGSS LLPSLSASSD 
       260 
SESGTVLPEQ ETPRE
Length:265
Mass (Da):29,433
Last modified:October 23, 2007 - v2
<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:i2C1169A4F43AE708
GO
Isoform 2 (identifier: Q6UE05-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     25-60: LVQNRDHLYNFLLLKINLFNHWVSGLAQEARGSCNW → RQGLALSPSLERSGAGSARCSLQLPVSSNPPPSASK
     61-265: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:60
Mass (Da):6,195
Checksum:i00CD21C1FC6F4849
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAQ74836 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

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_03681314I → N2 PublicationsCorresponds to variant dbSNP:rs11770052Ensembl.1
Natural variantiVAR_06172067G → V. Corresponds to variant dbSNP:rs56933025Ensembl.1
Natural variantiVAR_03681470A → D1 PublicationCorresponds to variant dbSNP:rs17852792Ensembl.1
Natural variantiVAR_03681578W → R2 PublicationsCorresponds to variant dbSNP:rs13227841Ensembl.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_03999725 – 60LVQNR…GSCNW → RQGLALSPSLERSGAGSARC SLQLPVSSNPPPSASK in isoform 2. 2 PublicationsAdd BLAST36
Alternative sequenceiVSP_03999861 – 265Missing in isoform 2. 2 PublicationsAdd BLAST205

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AY372053 mRNA Translation: AAQ74835.1
AY372054 mRNA Translation: AAQ74836.1 Sequence problems.
AC093168 Genomic DNA No translation available.
BC030643 mRNA Translation: AAH30643.1
DB455624 mRNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS43597.1 [Q6UE05-1]

NCBI Reference Sequences

More...RefSeqi		NP_872310.2, NM_182504.3 [Q6UE05-1]
XP_011514087.1, XM_011515785.2
XP_016867230.1, XM_017011741.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000320531; ENSP00000316775; ENSG00000175877 [Q6UE05-1]
ENST00000426490; ENSP00000403621; ENSG00000175877 [Q6UE05-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		135886

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:135886

UCSC genome browser

More...UCSCi		uc003tzk.2 human [Q6UE05-1]

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
AY372053 mRNA Translation: AAQ74835.1
AY372054 mRNA Translation: AAQ74836.1 Sequence problems.
AC093168 Genomic DNA No translation available.
BC030643 mRNA Translation: AAH30643.1
DB455624 mRNA No translation available.
CCDSiCCDS43597.1 [Q6UE05-1]
RefSeqiNP_872310.2, NM_182504.3 [Q6UE05-1]
XP_011514087.1, XM_011515785.2
XP_016867230.1, XM_017011741.1

3D structure databases

SMRiQ6UE05
ModBaseiSearch...

Protein-protein interaction databases

BioGridi126434, 1 interactor
STRINGi9606.ENSP00000316775

PTM databases

iPTMnetiQ6UE05
PhosphoSitePlusiQ6UE05

Polymorphism and mutation databases

BioMutaiTMEM270
DMDMi160221324

Proteomic databases

PaxDbiQ6UE05
PeptideAtlasiQ6UE05
PRIDEiQ6UE05
ProteomicsDBi67409 [Q6UE05-1]
67410 [Q6UE05-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		135886

Genome annotation databases

EnsembliENST00000320531; ENSP00000316775; ENSG00000175877 [Q6UE05-1]
ENST00000426490; ENSP00000403621; ENSG00000175877 [Q6UE05-2]
GeneIDi135886
KEGGihsa:135886
UCSCiuc003tzk.2 human [Q6UE05-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		135886
EuPathDBiHostDB:ENSG00000175877.3

GeneCards: human genes, protein and diseases

More...GeneCardsi		TMEM270
HGNCiHGNC:23018 TMEM270
HPAiHPA077196
MIMi612547 gene
neXtProtiNX_Q6UE05
OpenTargetsiENSG00000175877
PharmGKBiPA145147726

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IW1Q Eukaryota
ENOG4111CPR LUCA
GeneTreeiENSGT00390000009243
HOGENOMiHOG000154841
InParanoidiQ6UE05
OMAiWRVCQKA
OrthoDBi1511708at2759
PhylomeDBiQ6UE05
TreeFamiTF337697

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		WBSCR28 human

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

More...GenomeRNAii		135886
PharosiQ6UE05 Tdark

Protein Ontology

More...PROi		PR:Q6UE05
RNActiQ6UE05 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000175877 Expressed in 37 organ(s), highest expression level in right testis
GenevisibleiQ6UE05 HS

Family and domain databases

InterProiView protein in InterPro
IPR029166 WBS28
PANTHERiPTHR37369 PTHR37369, 1 hit
PfamiView protein in Pfam
PF15164 WBS28, 1 hit

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 nameiTM270_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: Q6UE05
Secondary accession number(s): Q6UE04, Q8NHP4
<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: October 23, 2007
Last sequence update: October 23, 2007
Last modified: December 11, 2019
This is version 102 of the entry and version 2 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

Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: 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
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