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Protein

Transmembrane protein 240

Gene

TMEM240

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 240
Gene namesi
Name:TMEM240
Synonyms:C1orf70
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000205090.8
HGNCiHGNC:25186 TMEM240
MIMi616101 gene
neXtProtiNX_Q5SV17

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
Transmembranei5 – 25HelicalSequence analysisAdd BLAST21
Transmembranei90 – 110HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Synapse

Pathology & Biotechi

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
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

DisGeNETi339453
MalaCardsiTMEM240
MIMi607454 phenotype
OpenTargetsiENSG00000205090
Orphaneti98773 Spinocerebellar ataxia type 21
PharmGKBiPA142672520

Polymorphism and mutation databases

BioMutaiTMEM240
DMDMi190358728

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003407281 – 173Transmembrane protein 240Add BLAST173

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei169PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ5SV17
PeptideAtlasiQ5SV17
PRIDEiQ5SV17
ProteomicsDBi63928

PTM databases

iPTMnetiQ5SV17
PhosphoSitePlusiQ5SV17

Expressioni

Gene expression databases

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

Organism-specific databases

HPAiHPA066721

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000368007

Structurei

3D structure databases

ProteinModelPortaliQ5SV17
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM240 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410II5J Eukaryota
ENOG4110ENY LUCA
GeneTreeiENSGT00400000023987
HOGENOMiHOG000060286
HOVERGENiHBG107552
InParanoidiQ5SV17
OMAiWRTSRRY
OrthoDBiEOG091G0KKF
PhylomeDBiQ5SV17

Family and domain databases

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

Sequence (1+)i

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
Checksum:i20776325E5654B12
GO

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:

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:
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

Genome annotation databases

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

Similar proteinsi

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

CTDi339453
DisGeNETi339453
EuPathDBiHostDB:ENSG00000205090.8
GeneCardsiTMEM240
HGNCiHGNC:25186 TMEM240
HPAiHPA066721
MalaCardsiTMEM240
MIMi607454 phenotype
616101 gene
neXtProtiNX_Q5SV17
OpenTargetsiENSG00000205090
Orphaneti98773 Spinocerebellar ataxia type 21
PharmGKBiPA142672520
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410II5J Eukaryota
ENOG4110ENY LUCA
GeneTreeiENSGT00400000023987
HOGENOMiHOG000060286
HOVERGENiHBG107552
InParanoidiQ5SV17
OMAiWRTSRRY
OrthoDBiEOG091G0KKF
PhylomeDBiQ5SV17

Miscellaneous databases

GenomeRNAii339453
PROiPR:Q5SV17
SOURCEiSearch...

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
ProtoNetiSearch...

Entry informationi

Entry nameiTM240_HUMAN
AccessioniPrimary (citable) accession number: Q5SV17
Secondary accession number(s): B9EJG7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: June 10, 2008
Last modified: October 10, 2018
This is version 87 of the entry and version 2 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: 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
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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