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Protein

Cell cycle control protein 50A

Gene

TMEM30A

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

Functioni

Accessory component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. The beta subunit may assist in binding of the phospholipid substrate. Required for the proper folding, assembly and ER to Golgi exit of the ATP8A2:TMEM30A flippase complex. ATP8A2:TMEM30A may be involved in regulation of neurite outgrowth, and, reconstituted to liposomes, predomiminantly transports phosphatidylserine (PS) and to a lesser extent phosphatidylethanolamine (PE). The ATP8A1:TMEM30A flippase complex seems to play a role in regulation of cell migration probably involving flippase-mediated translocation of phosphatidylethanolamine (PE) at the plasma membrane. Required for the formation of the ATP8A2, ATP8B1 and ATP8B2 P-type ATPAse intermediate phosphoenzymes. Involved in uptake of platelet-activating factor (PAF), synthetic drug alkylphospholipid edelfosine, and, probably in association with ATP8B1, of perifosine. Also mediate the export of alpha subunits ATP8A1, ATP8B1, ATP8B2, ATP8B4, ATP10A, ATP10B, ATP10D, ATP11A, ATP11B and ATP11C from the ER to other membrane localizations.4 Publications

Caution

GO - Molecular functioni

  • aminophospholipid transmembrane transporter activity Source: BHF-UCL

GO - Biological processi

  • aminophospholipid transport Source: BHF-UCL
  • drug transmembrane transport Source: UniProtKB
  • neutrophil degranulation Source: Reactome
  • phospholipid translocation Source: UniProtKB
  • positive regulation of neuron projection development Source: Ensembl
  • positive regulation of protein exit from endoplasmic reticulum Source: UniProtKB
  • protein localization to endosome Source: UniProtKB

Keywordsi

Biological processLipid transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-6798695 Neutrophil degranulation

Protein family/group databases

TCDBi8.A.27.1.5 the cdc50 p-type atpase lipid flippase subunit (cdc50) family

Names & Taxonomyi

Protein namesi
Recommended name:
Cell cycle control protein 50A
Alternative name(s):
P4-ATPase flippase complex beta subunit TMEM30A
Transmembrane protein 30A
Gene namesi
Name:TMEM30A
Synonyms:C6orf67, CDC50A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000112697.15
HGNCiHGNC:16667 TMEM30A
MIMi611028 gene
neXtProtiNX_Q9NV96

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
Topological domaini2 – 49CytoplasmicSequence analysisAdd BLAST48
Transmembranei50 – 70HelicalSequence analysisAdd BLAST21
Topological domaini71 – 325Exoplasmic loopSequence analysisAdd BLAST255
Transmembranei326 – 346HelicalSequence analysisAdd BLAST21
Topological domaini347 – 361CytoplasmicSequence analysisAdd BLAST15

Keywords - Cellular componenti

Cell membrane, Cytoplasmic vesicle, Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi55754
OpenTargetsiENSG00000112697
PharmGKBiPA134936902

Polymorphism and mutation databases

BioMutaiTMEM30A
DMDMi74752991

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002444692 – 361Cell cycle control protein 50AAdd BLAST360

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Glycosylationi180N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi190N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi294N-linked (GlcNAc...) asparagine1 Publication1

Post-translational modificationi

N-glycosylated. Contains high mannose-type oligosaccharides (By similarity).By similarity

Keywords - PTMi

Acetylation, Glycoprotein

Proteomic databases

EPDiQ9NV96
MaxQBiQ9NV96
PaxDbiQ9NV96
PeptideAtlasiQ9NV96
PRIDEiQ9NV96

PTM databases

iPTMnetiQ9NV96
PhosphoSitePlusiQ9NV96

Expressioni

Gene expression databases

BgeeiENSG00000112697
CleanExiHS_TMEM30A
ExpressionAtlasiQ9NV96 baseline and differential
GenevisibleiQ9NV96 HS

Organism-specific databases

HPAiHPA014561

Interactioni

Subunit structurei

Component of various P4-ATPase flippase complexes which consists of a catalytic alpha subunit and an accessory beta subunit. The ATP8A2:TMEM30A flippase complex has been purified, and ATP8B1:TMEM30A and ATP8B2:TMEM30A flippase complexes have been shown to form intermediate phosphoenzymes in vitro. Interacts with alpha subunits ATP8A1, ATP8B1, ATP8B2, ATP8B4, ATP11A, ATP11B and ATP11C.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ATP8B1O435203EBI-2836942,EBI-9524729

Protein-protein interaction databases

BioGridi12087265 interactors.
IntActiQ9NV96 16 interactors.
MINTiQ9NV96
STRINGi9606.ENSP00000230461

Structurei

3D structure databases

ProteinModelPortaliQ9NV96
SMRiQ9NV96
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domaini

The N-terminal domain seems to play a role in the reaction cycle of the catalytic subunit such as ATP8A2.By similarity

Sequence similaritiesi

Belongs to the CDC50/LEM3 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2952 Eukaryota
COG5035 LUCA
GeneTreeiENSGT00390000004660
HOGENOMiHOG000209057
HOVERGENiHBG055537
InParanoidiQ9NV96
OMAiDHTYLSW
OrthoDBiEOG091G0B8G
PhylomeDBiQ9NV96
TreeFamiTF300873

Family and domain databases

InterProiView protein in InterPro
IPR005045 CDC50/LEM3_fam
IPR030351 TMEM30A
PANTHERiPTHR10926 PTHR10926, 1 hit
PTHR10926:SF17 PTHR10926:SF17, 1 hit
PfamiView protein in Pfam
PF03381 CDC50, 1 hit
PIRSFiPIRSF015840 DUF284_TM_euk, 1 hit

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NV96-1) [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
MAMNYNAKDE VDGGPPCAPG GTAKTRRPDN TAFKQQRLPA WQPILTAGTV
60 70 80 90 100
LPIFFIIGLI FIPIGIGIFV TSNNIREIEI DYTGTEPSSP CNKCLSPDVT
110 120 130 140 150
PCFCTINFTL EKSFEGNVFM YYGLSNFYQN HRRYVKSRDD SQLNGDSSAL
160 170 180 190 200
LNPSKECEPY RRNEDKPIAP CGAIANSMFN DTLELFLIGN DSYPIPIALK
210 220 230 240 250
KKGIAWWTDK NVKFRNPPGG DNLEERFKGT TKPVNWLKPV YMLDSDPDNN
260 270 280 290 300
GFINEDFIVW MRTAALPTFR KLYRLIERKS DLHPTLPAGR YSLNVTYNYP
310 320 330 340 350
VHYFDGRKRM ILSTISWMGG KNPFLGIAYI AVGSISFLLG VVLLVINHKY
360
RNSSNTADIT I
Length:361
Mass (Da):40,684
Last modified:October 1, 2000 - v1
Checksum:i64B3F28C3EB7801B
GO
Isoform 2 (identifier: Q9NV96-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     79-114: Missing.

Show »
Length:325
Mass (Da):36,713
Checksum:i40D7000253A6787F
GO
Isoform 3 (identifier: Q9NV96-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-119: Missing.

Note: No experimental confirmation available.
Show »
Length:242
Mass (Da):27,729
Checksum:i262B426C680712B5
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0195671 – 119Missing in isoform 3. 1 PublicationAdd BLAST119
Alternative sequenceiVSP_01956879 – 114Missing in isoform 2. 2 PublicationsAdd BLAST36

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001718 mRNA Translation: BAA91859.1
AK292823 mRNA Translation: BAF85512.1
AL832815 mRNA Translation: CAH56262.1
AL832490 mRNA Translation: CAH56205.1
AL162046 mRNA Translation: CAB82389.1
AL080250 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48743.1
CH471051 Genomic DNA Translation: EAW48744.1
CH471051 Genomic DNA Translation: EAW48745.1
BC009006 mRNA Translation: AAH09006.1
CCDSiCCDS47453.1 [Q9NV96-2]
CCDS4983.1 [Q9NV96-1]
PIRiT47140
RefSeqiNP_001137430.1, NM_001143958.1 [Q9NV96-2]
NP_060717.1, NM_018247.3 [Q9NV96-1]
UniGeneiHs.108530

Genome annotation databases

EnsembliENST00000230461; ENSP00000230461; ENSG00000112697 [Q9NV96-1]
ENST00000370050; ENSP00000359067; ENSG00000112697 [Q9NV96-3]
ENST00000475111; ENSP00000431007; ENSG00000112697 [Q9NV96-2]
GeneIDi55754
KEGGihsa:55754
UCSCiuc003phw.3 human [Q9NV96-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiCC50A_HUMAN
AccessioniPrimary (citable) accession number: Q9NV96
Secondary accession number(s): A8K9V8
, E1P539, Q658Z3, Q96H09, Q9NSL9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: October 1, 2000
Last modified: March 28, 2018
This is version 123 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