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Protein

Transmembrane protein 230

Gene

TMEM230

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in trafficking and recycling of synaptic vesicles.1 Publication

GO - Biological processi

  • synaptic vesicle transport Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 230
Gene namesi
Name:TMEM230
Synonyms:C20orf30
ORF Names:HSPC274, UNQ2432/PRO4992
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:15876. TMEM230.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei46 – 66HelicalSequence analysisAdd BLAST21
Transmembranei79 – 99HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • autophagosome Source: UniProtKB-SubCell
  • cell junction Source: UniProtKB-KW
  • early endosome Source: UniProtKB
  • endoplasmic reticulum Source: HPA
  • integral component of membrane Source: UniProtKB-KW
  • late endosome Source: UniProtKB
  • recycling endosome Source: UniProtKB
  • synaptic vesicle Source: UniProtKB
  • trans-Golgi network Source: UniProtKB

Keywords - Cellular componenti

Cell junction, Cytoplasmic vesicle, Endosome, Golgi apparatus, Membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Parkinson disease (PARK)1 Publication
The gene represented in this entry may be involved in disease pathogenesis. Genetic variants in TMEM230 and DNAJC13 have been found in the same large multigenerational family with adult-onset Parkinson disease. The pathological role of each gene and therefore the exact molecular basis of the disease is unclear.1 Publication
Disease descriptionA complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features.
See also OMIM:168600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07671329Y → C in PARK; sporadic case; unknown pathological significance; results in decreased synaptic vesicle trafficking. 1 Publication1
Natural variantiVAR_07671478R → L in PARK; unknown pathological significance; results in decreased synaptic vesicle trafficking. 1 PublicationCorresponds to variant dbSNP:rs764786986Ensembl.1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Parkinson disease, Parkinsonism

Organism-specific databases

DisGeNETi29058.
MIMi168600. phenotype.
OpenTargetsiENSG00000089063.
PharmGKBiPA25746.

Polymorphism and mutation databases

BioMutaiTMEM230.
DMDMi74751737.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002338921 – 120Transmembrane protein 230Add BLAST120

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei15PhosphoserineCombined sources1
Modified residuei23PhosphoserineCombined sources1
Modified residuei24PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96A57.
MaxQBiQ96A57.
PaxDbiQ96A57.
PeptideAtlasiQ96A57.
PRIDEiQ96A57.
TopDownProteomicsiQ96A57-1. [Q96A57-1]
Q96A57-2. [Q96A57-2]

PTM databases

iPTMnetiQ96A57.
PhosphoSitePlusiQ96A57.

Expressioni

Gene expression databases

BgeeiENSG00000089063.
CleanExiHS_C20orf30.
ExpressionAtlasiQ96A57. baseline and differential.
GenevisibleiQ96A57. HS.

Organism-specific databases

HPAiHPA009078.
HPA061421.

Interactioni

Protein-protein interaction databases

BioGridi118834. 6 interactors.
IntActiQ96A57. 8 interactors.
MINTiMINT-1372090.
STRINGi9606.ENSP00000341364.

Structurei

3D structure databases

ProteinModelPortaliQ96A57.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM134/TMEM230 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4753. Eukaryota.
ENOG4111TWA. LUCA.
GeneTreeiENSGT00390000008694.
HOVERGENiHBG054972.
InParanoidiQ96A57.
OMAiYRRIPWK.
OrthoDBiEOG091G14TS.
PhylomeDBiQ96A57.
TreeFamiTF329240.

Family and domain databases

InterProiView protein in InterPro
IPR008590. DUF872_TM.
PfamiView protein in Pfam
PF05915. DUF872. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 2 (identifier: Q96A57-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MMPSRTNLAT GIPSSKVKYS RLSSTDDGYI DLQFKKTPPK IPYKAIALAT
60 70 80 90 100
VLFLIGAFLI IIGSLLLSGY ISKGGADRAV PVLIIGILVF LPGFYHLRIA
110 120
YYASKGYRGY SYDDIPDFDD
Length:120
Mass (Da):13,188
Last modified:December 1, 2001 - v1
Checksum:i18A4A556330D77CE
GO
Isoform 1 (identifier: Q96A57-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MQPWALPTVGELWVCGRPGAALRWSLVLSPRLEPSGVISAHCNLHLLASSDSSASASRLCQRVM

Show »
Length:183
Mass (Da):19,910
Checksum:iDBE684AF9FEFBDEB
GO

Sequence cautioni

Isoform 1 : The sequence AAF28952 differs from that shown. Reason: Frameshift at several positions.Curated1 Publication

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti59 – 61LII → SY in AAF28952 (Ref. 1) Curated3
Sequence conflicti109G → A in AAH11990 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07671329Y → C in PARK; sporadic case; unknown pathological significance; results in decreased synaptic vesicle trafficking. 1 Publication1
Natural variantiVAR_07671478R → L in PARK; unknown pathological significance; results in decreased synaptic vesicle trafficking. 1 PublicationCorresponds to variant dbSNP:rs764786986Ensembl.1
Natural variantiVAR_076715108R → C1 PublicationCorresponds to variant dbSNP:rs143571424Ensembl.1
Isoform 1 (identifier: Q96A57-2)
Natural varianti64M → TCurated1 PublicationCorresponds to variant dbSNP:rs141394228Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0181551M → MQPWALPTVGELWVCGRPGA ALRWSLVLSPRLEPSGVISA HCNLHLLASSDSSASASRLC QRVM in isoform 1. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF161392 mRNA. Translation: AAF28952.1. Frameshift.
AY359115 mRNA. Translation: AAQ89473.1.
AK315606 mRNA. Translation: BAG37975.1.
AL121890, AL121924 Genomic DNA. Translation: CAI19213.1.
AL121890, AL121924 Genomic DNA. Translation: CAI19216.1.
AL121924, AL121890 Genomic DNA. Translation: CAI22630.1.
AL121924, AL121890 Genomic DNA. Translation: CAI22627.1.
CH471133 Genomic DNA. Translation: EAX10431.1.
CH471133 Genomic DNA. Translation: EAX10432.1.
CH471133 Genomic DNA. Translation: EAX10433.1.
CH471133 Genomic DNA. Translation: EAX10434.1.
CH471133 Genomic DNA. Translation: EAX10437.1.
BC070212 mRNA. Translation: AAH70212.1.
BC009768 mRNA. Translation: AAH09768.1.
BC009769 mRNA. Translation: AAH09769.1.
BC009770 mRNA. Translation: AAH09770.1.
BC011990 mRNA. Translation: AAH11990.1.
BC015113 mRNA. Translation: AAH15113.1.
BC110408 mRNA. Translation: AAI10409.2.
CCDSiCCDS13086.1. [Q96A57-1]
CCDS33438.1. [Q96A57-2]
RefSeqiNP_001009923.1. NM_001009923.1. [Q96A57-2]
NP_001009924.1. NM_001009924.1. [Q96A57-1]
NP_001009925.1. NM_001009925.1. [Q96A57-1]
NP_001317913.1. NM_001330984.1. [Q96A57-1]
NP_001317914.1. NM_001330985.1. [Q96A57-1]
NP_001317915.1. NM_001330986.1. [Q96A57-1]
NP_054864.3. NM_014145.4. [Q96A57-1]
XP_016883325.1. XM_017027836.1. [Q96A57-1]
UniGeneiHs.472024.

Genome annotation databases

EnsembliENST00000202834; ENSP00000202834; ENSG00000089063. [Q96A57-1]
ENST00000342308; ENSP00000341364; ENSG00000089063. [Q96A57-2]
ENST00000379277; ENSP00000368579; ENSG00000089063. [Q96A57-1]
ENST00000379279; ENSP00000368581; ENSG00000089063. [Q96A57-1]
ENST00000379283; ENSP00000368585; ENSG00000089063. [Q96A57-1]
ENST00000379286; ENSP00000368588; ENSG00000089063. [Q96A57-1]
ENST00000379299; ENSP00000368601; ENSG00000089063. [Q96A57-1]
GeneIDi29058.
KEGGihsa:29058.
UCSCiuc002wlk.4. human. [Q96A57-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTM230_HUMAN
AccessioniPrimary (citable) accession number: Q96A57
Secondary accession number(s): B2RDM8
, D3DVZ9, Q0VGC8, Q5TDS5, Q96ES2, Q9P0A7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: December 1, 2001
Last modified: August 30, 2017
This is version 122 of the entry and version 1 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 20
    Human chromosome 20: 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