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Protein

Transmembrane protein 240

Gene

TMEM240

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 protein 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:
Transmembrane protein 240
<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:TMEM240
Synonyms:C1orf70
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000205090.8

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25186 TMEM240

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
616101 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5SV17

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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>Transmembranei5 – 25HelicalSequence analysisAdd BLAST21
Transmembranei90 – 110HelicalSequence 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

Cell junction, Cell membrane, Membrane, Synapse

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spinocerebellar ataxia 21 (SCA21)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA21 is characterized by onset in the first decades of life of slowly progressive relatively mild cerebellar ataxia associated with slight extrapyramidal features predominant in older patients and cognitive impairment predominant in younger patients.
See also OMIM:607454
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_07190680T → M in SCA21. 2 PublicationsCorresponds to variant dbSNP:rs606231454EnsemblClinVar.1
Natural variantiVAR_071907116R → C in SCA21. 1 PublicationCorresponds to variant dbSNP:rs606231453EnsemblClinVar.1
Natural variantiVAR_071908149E → K in SCA21. 1 PublicationCorresponds to variant dbSNP:rs546291208Ensembl.1
Natural variantiVAR_071909170P → L in SCA21. 1 PublicationCorresponds to variant dbSNP:rs606231451EnsemblClinVar.1
Natural variantiVAR_071910171R → W in SCA21. 1 PublicationCorresponds to variant dbSNP:rs606231455EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation, Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

DisGeNET

More...
DisGeNETi
339453

MalaCards human disease database

More...
MalaCardsi
TMEM240
MIMi607454 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000205090

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
98773 Spinocerebellar ataxia type 21

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142672520

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TMEM240

Domain mapping of disease mutations (DMDM)

More...
DMDMi
190358728

<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_00003407281 – 173Transmembrane protein 240Add BLAST173

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei169PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

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

More...
PaxDbi
Q5SV17

PeptideAtlas

More...
PeptideAtlasi
Q5SV17

PRoteomics IDEntifications database

More...
PRIDEi
Q5SV17

ProteomicsDB human proteome resource

More...
ProteomicsDBi
63928

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5SV17

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

More...
PhosphoSitePlusi
Q5SV17

<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
ENSG00000205090 Expressed in 87 organ(s), highest expression level in right hemisphere of cerebellum

CleanEx database of gene expression profiles

More...
CleanExi
HS_C1orf70

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q5SV17 baseline and differential

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA066721

<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

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000368007

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q5SV17

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the TMEM240 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410II5J Eukaryota
ENOG4110ENY LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00400000023987

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000060286

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG107552

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5SV17

Identification of Orthologs from Complete Genome Data

More...
OMAi
WRTSRRY

Database of Orthologous Groups

More...
OrthoDBi
1310776at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5SV17

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR027947 TMEM240

The PANTHER Classification System

More...
PANTHERi
PTHR28666 PTHR28666, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15207 TMEM240, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q5SV17-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSMSANTMIF MILGASVVMA IACLMDMNAL LDRFHNYILP HLRGEDRVCH
60 70 80 90 100
CNCGRHHIHY VIPYDGDQSV VDASENYFVT DSVTKQEIDL MLGLLLGFCI
110 120 130 140 150
SWFLVWMDGV LHCAVRAWRA GRRYDGSWTW LPKLCSLREL GRRPHRPFEE
160 170
AAGNMVHVKQ KLYHNGHPSP RHL
Length:173
Mass (Da):19,908
Last modified:June 10, 2008 - 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:i20776325E5654B12
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A096LNN7A0A096LNN7_HUMAN
Transmembrane protein 240
TMEM240
55Annotation score:

Annotation score:1 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07190680T → M in SCA21. 2 PublicationsCorresponds to variant dbSNP:rs606231454EnsemblClinVar.1
Natural variantiVAR_071907116R → C in SCA21. 1 PublicationCorresponds to variant dbSNP:rs606231453EnsemblClinVar.1
Natural variantiVAR_071908149E → K in SCA21. 1 PublicationCorresponds to variant dbSNP:rs546291208Ensembl.1
Natural variantiVAR_071909170P → L in SCA21. 1 PublicationCorresponds to variant dbSNP:rs606231451EnsemblClinVar.1
Natural variantiVAR_071910171R → W in SCA21. 1 PublicationCorresponds to variant dbSNP:rs606231455EnsemblClinVar.1

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
AL645728 Genomic DNA No translation available.
BC147018 mRNA Translation: AAI47019.1
BC147020 mRNA Translation: AAI47021.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS44040.1

NCBI Reference Sequences

More...
RefSeqi
NP_001108220.1, NM_001114748.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.668654

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000378733; ENSP00000368007; ENSG00000205090
ENST00000425828; ENSP00000400311; ENSG00000205090

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
339453

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:339453

UCSC genome browser

More...
UCSCi
uc009vkf.4 human

<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
AL645728 Genomic DNA No translation available.
BC147018 mRNA Translation: AAI47019.1
BC147020 mRNA Translation: AAI47021.1
CCDSiCCDS44040.1
RefSeqiNP_001108220.1, NM_001114748.1
UniGeneiHs.668654

3D structure databases

ProteinModelPortaliQ5SV17
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000368007

PTM databases

iPTMnetiQ5SV17
PhosphoSitePlusiQ5SV17

Polymorphism and mutation databases

BioMutaiTMEM240
DMDMi190358728

Proteomic databases

PaxDbiQ5SV17
PeptideAtlasiQ5SV17
PRIDEiQ5SV17
ProteomicsDBi63928

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378733; ENSP00000368007; ENSG00000205090
ENST00000425828; ENSP00000400311; ENSG00000205090
GeneIDi339453
KEGGihsa:339453
UCSCiuc009vkf.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
339453
DisGeNETi339453
EuPathDBiHostDB:ENSG00000205090.8

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TMEM240
HGNCiHGNC:25186 TMEM240
HPAiHPA066721
MalaCardsiTMEM240
MIMi607454 phenotype
616101 gene
neXtProtiNX_Q5SV17
OpenTargetsiENSG00000205090
Orphaneti98773 Spinocerebellar ataxia type 21
PharmGKBiPA142672520

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410II5J Eukaryota
ENOG4110ENY LUCA
GeneTreeiENSGT00400000023987
HOGENOMiHOG000060286
HOVERGENiHBG107552
InParanoidiQ5SV17
OMAiWRTSRRY
OrthoDBi1310776at2759
PhylomeDBiQ5SV17

Miscellaneous databases

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

More...
GenomeRNAii
339453

Protein Ontology

More...
PROi
PR:Q5SV17

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000205090 Expressed in 87 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_C1orf70
ExpressionAtlasiQ5SV17 baseline and differential

Family and domain databases

InterProiView protein in InterPro
IPR027947 TMEM240
PANTHERiPTHR28666 PTHR28666, 1 hit
PfamiView protein in Pfam
PF15207 TMEM240, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiTM240_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: Q5SV17
Secondary accession number(s): B9EJG7
<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: June 10, 2008
Last sequence update: June 10, 2008
Last modified: January 16, 2019
This is version 88 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
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