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Protein

Transmembrane protein 240

Gene

TMEM240

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-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

HGNCiHGNC:25186. TMEM240.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei5 – 25HelicalSequence analysisAdd BLAST21
Transmembranei90 – 110HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia 21 (SCA21)
The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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. 1 PublicationCorresponds to variant dbSNP:rs606231454Ensembl.1
Natural variantiVAR_071907116R → C in SCA21. 1 PublicationCorresponds to variant dbSNP:rs606231453Ensembl.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:rs606231451Ensembl.1
Natural variantiVAR_071910171R → W in SCA21. 1 PublicationCorresponds to variant dbSNP:rs606231455Ensembl.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.

PTM databases

iPTMnetiQ5SV17.
PhosphoSitePlusiQ5SV17.

Expressioni

Gene expression databases

BgeeiENSG00000205090.
CleanExiHS_C1orf70.
ExpressionAtlasiQ5SV17. baseline and differential.

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.
PfamiView protein in Pfam
PF15207. TMEM240. 1 hit.

Sequencei

Sequence statusi: Complete.

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

Sequence cautioni

The sequence CAI22949 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07190680T → M in SCA21. 1 PublicationCorresponds to variant dbSNP:rs606231454Ensembl.1
Natural variantiVAR_071907116R → C in SCA21. 1 PublicationCorresponds to variant dbSNP:rs606231453Ensembl.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:rs606231451Ensembl.1
Natural variantiVAR_071910171R → W in SCA21. 1 PublicationCorresponds to variant dbSNP:rs606231455Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL645728 Genomic DNA. Translation: CAI22949.1. Sequence problems.
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

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

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: March 15, 2017
This is version 82 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. Human chromosome 1
    Human chromosome 1: 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
  5. SIMILARITY comments
    Index of protein domains and families