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Protein

Transmembrane protein 230

Gene

TMEM230

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

Functioni

Involved in trafficking and recycling of synaptic vesicles.1 Publication

GO - Biological processi

  • synaptic vesicle transport Source: UniProtKB

Protein family/group databases

TCDBi9.B.232.1.1 the parkinson's disease tmem230 (tmem230) family

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

EuPathDBiHostDB:ENSG00000089063.14
HGNCiHGNC:15876 TMEM230
MIMi617019 gene
neXtProtiNX_Q96A57

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
Transmembranei46 – 66HelicalSequence analysisAdd BLAST21
Transmembranei79 – 99HelicalSequence analysisAdd BLAST21

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 PublicationCorresponds to variant dbSNP:rs1056737920Ensembl.1
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
ProteomicsDBi75916
75917 [Q96A57-2]
TopDownProteomicsiQ96A57-1 [Q96A57-1]
Q96A57-2 [Q96A57-2]

PTM databases

iPTMnetiQ96A57
PhosphoSitePlusiQ96A57

Expressioni

Gene expression databases

BgeeiENSG00000089063 Expressed in 100 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_C20orf30
ExpressionAtlasiQ96A57 baseline and differential
GenevisibleiQ96A57 HS

Organism-specific databases

HPAiHPA009078
HPA061421

Interactioni

Protein-protein interaction databases

BioGridi118834, 9 interactors
IntActiQ96A57, 11 interactors
MINTiQ96A57
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
OMAiFDKIPWK
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

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5JWB9Q5JWB9_HUMAN
Transmembrane protein 230
TMEM230
74Annotation score:
A0A087WTT2A0A087WTT2_HUMAN
Transmembrane protein 230
TMEM230
127Annotation score:

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 PublicationCorresponds to variant dbSNP:rs1056737920Ensembl.1
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 Genomic DNA No translation available.
AL121924 Genomic DNA No translation available.
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

Cross-referencesi

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 Genomic DNA No translation available.
AL121924 Genomic DNA No translation available.
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

3D structure databases

ProteinModelPortaliQ96A57
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118834, 9 interactors
IntActiQ96A57, 11 interactors
MINTiQ96A57
STRINGi9606.ENSP00000341364

Protein family/group databases

TCDBi9.B.232.1.1 the parkinson's disease tmem230 (tmem230) family

PTM databases

iPTMnetiQ96A57
PhosphoSitePlusiQ96A57

Polymorphism and mutation databases

BioMutaiTMEM230
DMDMi74751737

Proteomic databases

EPDiQ96A57
MaxQBiQ96A57
PaxDbiQ96A57
PeptideAtlasiQ96A57
PRIDEiQ96A57
ProteomicsDBi75916
75917 [Q96A57-2]
TopDownProteomicsiQ96A57-1 [Q96A57-1]
Q96A57-2 [Q96A57-2]

Protocols and materials databases

DNASUi29058
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi29058
DisGeNETi29058
EuPathDBiHostDB:ENSG00000089063.14
GeneCardsiTMEM230
H-InvDBiHIX0015617
HGNCiHGNC:15876 TMEM230
HPAiHPA009078
HPA061421
MIMi168600 phenotype
617019 gene
neXtProtiNX_Q96A57
OpenTargetsiENSG00000089063
PharmGKBiPA25746
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4753 Eukaryota
ENOG4111TWA LUCA
GeneTreeiENSGT00390000008694
HOVERGENiHBG054972
InParanoidiQ96A57
OMAiFDKIPWK
OrthoDBiEOG091G14TS
PhylomeDBiQ96A57
TreeFamiTF329240

Miscellaneous databases

ChiTaRSiTMEM230 human
GenomeRNAii29058
PROiPR:Q96A57
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000089063 Expressed in 100 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_C20orf30
ExpressionAtlasiQ96A57 baseline and differential
GenevisibleiQ96A57 HS

Family and domain databases

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

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: November 7, 2018
This is version 133 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. 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 20
    Human chromosome 20: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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