Q5H8C4 · VP13A_MOUSE
- ProteinIntermembrane lipid transfer protein VPS13A
- GeneVps13a
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids3166 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Mediates the transfer of lipids between membranes at organelle contact sites (By similarity).
Required for the formation or stabilization of ER-mitochondria contact sites which enable transfer of lipids between the ER and mitochondria (By similarity).
Negatively regulates lipid droplet size and motility (By similarity).
Required for efficient lysosomal protein degradation (By similarity).
Required for the formation or stabilization of ER-mitochondria contact sites which enable transfer of lipids between the ER and mitochondria (By similarity).
Negatively regulates lipid droplet size and motility (By similarity).
Required for efficient lysosomal protein degradation (By similarity).
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Biological process
Names & Taxonomy
Protein names
- Recommended nameIntermembrane lipid transfer protein VPS13A
- Alternative names
Gene names
Organism names
- Organism
- Strain
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Glires > Rodentia > Myomorpha > Muroidea > Muridae > Murinae > Mus > Mus
Accessions
- Primary accessionQ5H8C4
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Mitochondrion outer membrane ; Peripheral membrane protein
Endoplasmic reticulum membrane ; Peripheral membrane protein
Endosome membrane ; Peripheral membrane protein
Lysosome membrane ; Peripheral membrane protein
Note: Localizes at mitochondria-endosomes and mitochondria-endoplasmic reticulum contact sites.
Keywords
- Cellular component
Phenotypes & Variants
Disruption phenotype
Mice show defects in motor coordination, social investigation, erythrocyte morphology as well as size and morphology of the striatum. Provides a mouse model for chorea-acanthocytosis (CHAC) with a mild phenotype and late adult onset.
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 135 variants from UniProt as well as other sources including ClinVar and dbSNP.
PTM/Processing
Features
Showing features for chain, modified residue.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000262948 | 1-3166 | Intermembrane lipid transfer protein VPS13A | |||
Sequence: MVFESVVVEVLNRFLGDYVVNLDESQLSLGIWKGAVALKNLVIKENALHELDVPFKVKVGHIGSLKLKIPWKNLYTQPVEAVLEEIFLLIVPSSRIQYDPIKEEKQLMETKQQELKRIEKAKQKVFDKEKPREEKQDTFTEKLVTQIIQNLQVQISSIHIRYEDDITNGDKPLSFGISLQNISLQTTDQYWIPCLHDNTEKLVRKLIRLDNLFAYWNVNSEMFYLNDYDESLKALKNGIVNENIVPEGYDFVFRPISASAKLQMNRRSDFDFSDPKINLAVDLHTIAIEFNKPQYFSLMELLESIDMMTQNQPYRKFKPSVPLHLHAKEWWAYAIHSILEVNVCPSLRMWSWEHIRNHRYKMKRYREFYKKKLTSKKPSPEILMSLEELEKTLDVFNITIARQQAEVEAKKAGYKIYKEGVKDPEDNAGWFGWLWTWSESNANQQQDVKPGILEEMLTPEEKSLLYEAIGYSETAVDPTLPKTFEALKFFVHLKSMSIVLRENHQKPELLNVVVEGLSTSVVQRPGAQAIKFETKIDSFHITGLPDDFKKPHLLSSLDDTSLLQITFEINPLNETVAQRCTIEAEPLEIIYDARTVNSIVEFFRPPKDVHLAQLTSVTLTKLEEFRAKTATGLLYVIETQKVLDLRINVKASYVIVPQYGNFSPTSNLLLLDLGHLKVSSKRRSLLPDVRPSEASLEDIMHRAYDSFDIQLTSIQLLYSRVGDNWKEARKLNVSTQHILIPMHVNVELSKAMVFMDIKMPKFKISGKLPLVSLRISDKKLQGIMELLGSIPKPEPVTDVSAPARSFQIQASALPVSHISQKLIPLLEQPVTEDDSEEEFFDAPCSPLEECPQVSCRDKCTRQKKLQKKDCVMNLIQLRMRFEVAEVSIQFYHLVGDCELPVLEMGALGLGTEAEFRTFDLKGSAFLKELWLKCPEYLDENKKPVYLITTLDNTMEDLLTLEFMKVEKNAPNLNSTYNNVLQLIKVNFSSLDIHLHTEALLNTMNYLNNILPELREKSASVSAAEPEDKGDIIKKLALKLPTNEDIITLQLLAELSCLQIFIQDQKQNISEIKIEGLDSEMIMKPLVTEINAKLRNIIVLDSDKMAIYKKALYITGKEVFSFKMISYMDATAGYAYTDMSVVDIRVHLTVGCIEVVFITKFLYSILAFIDNFQAVKDALAEATVQAAEMAADGVKELARKSSRFALDVNIKAPVVLIPQSPVSQNVFVADFGLITMKNIFVTVTETQSNIPPVIDLITIKLSKMRLYRSQFRNDTYQEVLDLLLPLNLEVIVERNLSWEWYKEVPCFNIKAQLKPMEFILSQEDLTTVFQTLHGNIWYGQDLSAPSSANKDPETMTSGVTSPPDHSPATVVTAAVVEVHPQASQAHTMLNVSFQTDYLTMALYSPGPDEASFTDVRDPSLELAEFKLENIISSLKIYTDDSTVFSFSVKNCILDDKRSHVMKATPRMIGLTVGFDKKDMVDIKYRKIKTFVVTDAVVQEMYVCASVEFLMTVAHIFFDAYMTSTALETSVQTRTTREAPAQELGKWEMNILIKNPEIVFVADMTRNDAPALVITTQCEICCKGEPTSNTVTAAIKDLQVRACPFLPVKRKGKVTTVLQPCDLFYQATQLGRDPQMIDISVKSLTLKVSPVIINTIITITSALYTTKETVPEENTSNIAHLWDKKDTKNLKMWFLEESNESEKVVPTNEVMPGGETLNLRIDSIFIVLEAGIGHRTVPMLLAKACFSGESKNWLSLINLHCHLELEVHYYNEMFGVWEPLLEPLEIDQTDDFRPWNLGIKMKKKAKEAIVESDSEAENYKVPEYKTAISFYSRDQLNITLSKCGLVMLNNLVEAFTEAATGSSSVFLRDLAPFMIFNSLGLTVSVSPSDSFSVLNVPLAKSYELKNDESLSMDYVRTKDNDHFNAMTSLSSKLFFILLTPANHSVADKIPLTKVGRRLYTVRHRESGVERSIICQIDTVEGSKKVTIRSPVQIKNHFSIPISVFEGDTLLGIASPENEFNIPLASYRSSLSLVPEDQDYQLCEGIDFEEIIKYDGQLLKKKCRSTNPSKKSFVINIVPEKDNLASLSVYSEDGWDLPYVLHLWPPILIRNLLPYKVAYYIEGIENTVVTLSEGHSSQIYNVEMDQAKLHLKLLDYLNHDWKSEFYIRSSQQDINFINFTCLTEMEKSDLDIAIHMTYNTGQTVVAFHSPYWMVNKTNRMLQYKADGIHRKHPPNYTKPVLFSFQPNHFFNNNKVQLMVTDSELSDQFSIDTVGSHGAIRCKGLKMEYQVGVTINLSSFNITRIVTFIPFYMIKNKSKYHISVAEEGSDKWLSLDLEQSIPFWPENASNILLIQVERSEDPPKRIYFNKQDNCILLRLNNELGGIIAEVNLAEHSTVITFSDYHDGAATFLLINHTKSDPVQYNQSSLGEIEDSLPPGKAVYYTWADPVGSRKLKWSCGQSYGEVTHKDDMMTPISVGKKTIYLVSFFEGLQRIILFTEDPRVFKVTYESEKAELAELEVVLALQDVGISLVNNYTKQEVAYIGITSSDVVWEAKPKKKARWKPMSVKHTEKLEKEFREYTEASPLEDKVVELDNIPVRLTPSGNDMKILQPHVIPVRRNYLPALKVEYNTSAHQSSFRIQIYRIQIQNQIHGAIFPFVFYPIKPPRSVTMDSAPKPFTDVSIVMRSAGHSQISRIKYFKVLIQEMDLSLDLGFVYALADLVTKAEVTEKTEVEHFHKDVEAFEQEYEVVSSVDQSQVNLFEYFHISPIKLHLSVSLSSGRDEAKDSEQHGGLIPVHSLNLLLKSIGATLTDVQDVVFKLAFFELNYQFHTTSELQSEVIRHYSKQAIKQMYVLILGLDVLGNPFGLIREFSEGVEAFFYEPYQGAIQGPEEFVEGMALGLKALVGGAVGGLAGAASKITSAMAKGVAAMTMDEDYQQKRREAMNKQPAGLREGITRGGKGLVSGFVSGITGIVTKPIKGAQKEGAAGFFKGVGKGLVGAVTRPTGGIIDMASSTFQGIKRATETSEVESLRPPRFFNEDGVIRPYRLRDGSGNQMLQVMENGRFAKYKYFTHVMINKTDMFMITRRGVLFVTKGTFGQLTCEWQYTFDEFTKEPFIVHGRRLRIEAKERVKSVFHAKEFGKIVNFKTPEDARWILTKLEEAREPSPRL | ||||||
Modified residue | 831 | Phosphothreonine | ||||
Sequence: T | ||||||
Modified residue | 835 | Phosphoserine | ||||
Sequence: S | ||||||
Modified residue | 1410 | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Gene expression databases
Family & Domains
Features
Showing features for domain, repeat, motif, region.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 3-116 | Chorein N-terminal | ||||
Sequence: FESVVVEVLNRFLGDYVVNLDESQLSLGIWKGAVALKNLVIKENALHELDVPFKVKVGHIGSLKLKIPWKNLYTQPVEAVLEEIFLLIVPSSRIQYDPIKEEKQLMETKQQELK | ||||||
Repeat | 212-245 | TPR 1 | ||||
Sequence: LFAYWNVNSEMFYLNDYDESLKALKNGIVNENIV | ||||||
Repeat | 373-406 | TPR 2 | ||||
Sequence: LTSKKPSPEILMSLEELEKTLDVFNITIARQQAE | ||||||
Motif | 838-844 | FFAT | ||||
Sequence: EFFDAPC | ||||||
Region | 1343-1365 | Disordered | ||||
Sequence: APSSANKDPETMTSGVTSPPDHS | ||||||
Repeat | 1806-1840 | TPR 3 | ||||
Sequence: AIVESDSEAENYKVPEYKTAISFYSRDQLNITLSK | ||||||
Repeat | 1999-2034 | TPR 4 | ||||
Sequence: ISVFEGDTLLGIASPENEFNIPLASYRSSLSLVPED | ||||||
Domain | 2202-2447 | SHR-BD | ||||
Sequence: VAFHSPYWMVNKTNRMLQYKADGIHRKHPPNYTKPVLFSFQPNHFFNNNKVQLMVTDSELSDQFSIDTVGSHGAIRCKGLKMEYQVGVTINLSSFNITRIVTFIPFYMIKNKSKYHISVAEEGSDKWLSLDLEQSIPFWPENASNILLIQVERSEDPPKRIYFNKQDNCILLRLNNELGGIIAEVNLAEHSTVITFSDYHDGAATFLLINHTKSDPVQYNQSSLGEIEDSLPPGKAVYYTWADPVG | ||||||
Region | 2607-3166 | Required for mitochondrial localization | ||||
Sequence: LQPHVIPVRRNYLPALKVEYNTSAHQSSFRIQIYRIQIQNQIHGAIFPFVFYPIKPPRSVTMDSAPKPFTDVSIVMRSAGHSQISRIKYFKVLIQEMDLSLDLGFVYALADLVTKAEVTEKTEVEHFHKDVEAFEQEYEVVSSVDQSQVNLFEYFHISPIKLHLSVSLSSGRDEAKDSEQHGGLIPVHSLNLLLKSIGATLTDVQDVVFKLAFFELNYQFHTTSELQSEVIRHYSKQAIKQMYVLILGLDVLGNPFGLIREFSEGVEAFFYEPYQGAIQGPEEFVEGMALGLKALVGGAVGGLAGAASKITSAMAKGVAAMTMDEDYQQKRREAMNKQPAGLREGITRGGKGLVSGFVSGITGIVTKPIKGAQKEGAAGFFKGVGKGLVGAVTRPTGGIIDMASSTFQGIKRATETSEVESLRPPRFFNEDGVIRPYRLRDGSGNQMLQVMENGRFAKYKYFTHVMINKTDMFMITRRGVLFVTKGTFGQLTCEWQYTFDEFTKEPFIVHGRRLRIEAKERVKSVFHAKEFGKIVNFKTPEDARWILTKLEEAREPSPRL | ||||||
Repeat | 2716-2750 | TPR 5 | ||||
Sequence: ADLVTKAEVTEKTEVEHFHKDVEAFEQEYEVVSSV | ||||||
Region | 2743-3166 | Required for mitochondrial localization | ||||
Sequence: EYEVVSSVDQSQVNLFEYFHISPIKLHLSVSLSSGRDEAKDSEQHGGLIPVHSLNLLLKSIGATLTDVQDVVFKLAFFELNYQFHTTSELQSEVIRHYSKQAIKQMYVLILGLDVLGNPFGLIREFSEGVEAFFYEPYQGAIQGPEEFVEGMALGLKALVGGAVGGLAGAASKITSAMAKGVAAMTMDEDYQQKRREAMNKQPAGLREGITRGGKGLVSGFVSGITGIVTKPIKGAQKEGAAGFFKGVGKGLVGAVTRPTGGIIDMASSTFQGIKRATETSEVESLRPPRFFNEDGVIRPYRLRDGSGNQMLQVMENGRFAKYKYFTHVMINKTDMFMITRRGVLFVTKGTFGQLTCEWQYTFDEFTKEPFIVHGRRLRIEAKERVKSVFHAKEFGKIVNFKTPEDARWILTKLEEAREPSPRL | ||||||
Repeat | 2852-2890 | TPR 6 | ||||
Sequence: ILGLDVLGNPFGLIREFSEGVEAFFYEPYQGAIQGPEEF | ||||||
Region | 2945-3019 | Required for lipid droplet localization | ||||
Sequence: PAGLREGITRGGKGLVSGFVSGITGIVTKPIKGAQKEGAAGFFKGVGKGLVGAVTRPTGGIIDMASSTFQGIKRA |
Domain
The FFAT motif is required for interaction with VAPA and VAPB and its localization to the endoplasmic reticulum.
The C-terminal part (3050-3166) is involved in phospholipid binding, including phosphatidylinositol 4,5-bisphosphate.
Sequence similarities
Belongs to the VPS13 family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q5H8C4-1
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.
- Name1
- Length3,166
- Mass (Da)359,401
- Last updated2005-03-01 v1
- Checksum68EFBB87EF7833B0
Q5H8C4-2
- Name2
- Differences from canonical
- 3056-3061: VMENGR → ASKSLI
- 3062-3166: Missing
Computationally mapped potential isoform sequences
There are 3 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A494B9C3 | A0A494B9C3_MOUSE | Vps13a | 148 | ||
A0A286YCT3 | A0A286YCT3_MOUSE | Vps13a | 2339 | ||
A0A286YCC3 | A0A286YCC3_MOUSE | Vps13a | 857 |
Sequence caution
Features
Showing features for alternative sequence.
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AB115421 EMBL· GenBank· DDBJ | BAD89296.1 EMBL· GenBank· DDBJ | mRNA | ||
AK052697 EMBL· GenBank· DDBJ | BAC35101.1 EMBL· GenBank· DDBJ | mRNA | ||
AK135983 EMBL· GenBank· DDBJ | BAE22761.1 EMBL· GenBank· DDBJ | mRNA | Sequence problems. | |
AK142462 EMBL· GenBank· DDBJ | BAE25075.1 EMBL· GenBank· DDBJ | mRNA | ||
AK220362 EMBL· GenBank· DDBJ | BAD90423.1 EMBL· GenBank· DDBJ | mRNA | ||
BC050055 EMBL· GenBank· DDBJ | AAH50055.1 EMBL· GenBank· DDBJ | mRNA |