Q5H8C4 · VP13A_MOUSE

  • Protein
    Intermembrane lipid transfer protein VPS13A
  • Gene
    Vps13a
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

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).

GO annotations

all annotationsall molecular functionvirus receptor activitydna bindingrna bindingcytoskeletal motor activitycatalytic activitygtpase activitystructural molecule activitytransporter activitycytoskeletal protein bindinglipid bindingcyclase activityantioxidant activityoxidoreductase activitytransferase activityhydrolase activitylyase activityisomerase activityligase activityprotein tag activitycargo receptor activityhistone bindingprotein folding chaperonetranslation regulator activitynutrient reservoir activityreceptor ligand activitymolecular transducer activitymolecular adaptor activitytoxin activitycell adhesion mediator activitymolecular function regulator activityvirus coreceptor activitycatalytic activity, acting on a proteincatalytic activity, acting on dnacatalytic activity, acting on rnamolecular carrier activitytranscription regulator activitygeneral transcription initiation factor activitymolecular sensor activitymolecular sequestering activityatp-dependent activityother molecular functionall biological processmitotic cell cyclecytokinesiscytoplasmic translationimmune system processmuscle system processcirculatory system processrenal system processrespiratory system processcarbohydrate metabolic processgeneration of precursor metabolites and energydna replicationdna repairdna recombinationchromatin organizationdna-templated transcriptionregulation of dna-templated transcriptiontrna metabolic processprotein foldingprotein glycosylationamino acid metabolic processmodified amino acid metabolic processlipid metabolic processvitamin metabolic processsulfur compound metabolic processintracellular protein transportnucleocytoplasmic transportautophagyinflammatory responsemitochondrion organizationcytoskeleton organizationmicrotubule-based movementperoxisome organizationlysosome organizationchromosome segregationcell adhesionestablishment or maintenance of cell polarityprogrammed cell deathphotosynthesismrna metabolic processsnrna metabolic processvesicle-mediated transportreproductive processdigestive system processsignalingcell differentiationprotein catabolic processextracellular matrix organizationregulatory ncrna-mediated gene silencingtelomere organizationcell junction organizationwound healingribosome biogenesiscilium organizationanatomical structure developmentcell motilitynervous system processendocrine processprotein maturationtransmembrane transportnucleobase-containing small molecule metabolic processhepaticobiliary system processmembrane organizationprotein-containing complex assemblycell wall organization or biogenesisnitrogen cycle metabolic processprotein localization to plasma membranedefense response to other organismdetoxificationmeiotic nuclear divisionmitotic nuclear divisionmitochondrial gene expressioncarbohydrate derivative metabolic processother biological processall cellular componentnuclear chromosomeextracellular regionextracellular spacecell wallnucleusnuclear envelopenucleoplasmchromosomenucleolusmitochondrionlysosomeendosomevacuoleperoxisomeendoplasmic reticulumgolgi apparatuslipid dropletmicrotubule organizing centercytosolribosomecytoskeletonplasma membraneciliumplastidthylakoidexternal encapsulating structureextracellular matrixcytoplasmic vesicleorganelleother cellular component
Cell color indicative of number of GO terms
AspectTerm
Cellular Componentdense core granule
Cellular Componentendoplasmic reticulum membrane
Cellular Componentendosome membrane
Cellular ComponentGolgi apparatus
Cellular Componentlipid droplet
Cellular Componentlysosomal membrane
Cellular Componentmitochondria-associated endoplasmic reticulum membrane contact site
Cellular Componentmitochondrial membrane
Cellular Componentmitochondrial outer membrane
Cellular Componentneuronal dense core vesicle lumen
Cellular Componentsperm midpiece
Biological Processautophagy
Biological Processbrain-derived neurotrophic factor receptor signaling pathway
Biological Processcellular response to osmotic stress
Biological Processexploration behavior
Biological Processflagellated sperm motility
Biological Processgene expression
Biological Processlipid transport
Biological Processlocomotory behavior
Biological Processlysosomal protein catabolic process
Biological Processmicroglia differentiation
Biological Processmotor behavior
Biological Processmulticellular organism growth
Biological Processnervous system development
Biological Processneuromuscular process
Biological Processneuromuscular process controlling balance
Biological Processneuron projection arborization
Biological Processprotein retention in Golgi apparatus
Biological Processprotein targeting to vacuole
Biological Processregulation of synaptic plasticity
Biological Processresponse to environmental enrichment
Biological Processsocial behavior
Biological Processsperm mitochondrion organization

Keywords

Names & Taxonomy

Protein names

  • Recommended name
    Intermembrane lipid transfer protein VPS13A
  • Alternative names
    • Chorea-acanthocytosis protein homolog
    • Chorein
    • Vacuolar protein sorting-associated protein 13A

Gene names

    • Name
      Vps13a
    • Synonyms
      Chac
      , Kiaa0986

Organism names

  • Taxonomic identifier
  • Strain
    • C57BL/6J
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Glires > Rodentia > Myomorpha > Muroidea > Muridae > Murinae > Mus > Mus

Accessions

  • Primary accession
    Q5H8C4
  • Secondary accessions
    • Q3UQG7
    • Q3UX03
    • Q5DU08
    • Q80YV7
    • Q8C722

Proteomes

Organism-specific databases

Subcellular Location

Mitochondrion outer membrane
; Peripheral membrane protein
Endoplasmic reticulum membrane
; Peripheral membrane protein
Endosome membrane
; Peripheral membrane protein
Lysosome membrane
; Peripheral membrane protein
Lipid droplet
Golgi apparatus
Note: Localizes at mitochondria-endosomes and mitochondria-endoplasmic reticulum contact sites.

Keywords

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.

Go to variant viewer

PTM/Processing

Features

Showing features for chain, modified residue.

TypeIDPosition(s)Description
ChainPRO_00002629481-3166Intermembrane lipid transfer protein VPS13A
Modified residue831Phosphothreonine
Modified residue835Phosphoserine
Modified residue1410Phosphoserine

Keywords

Proteomic databases

PTM databases

Expression

Gene expression databases

Interaction

Subunit

Interacts (via FFAT motif) with VAPA and VAPB (By similarity).
Interacts with RAB7A (By similarity).
Interacts with XK (By similarity).

Protein-protein interaction databases

Miscellaneous

Structure

3D structure databases

Family & Domains

Features

Showing features for domain, repeat, motif, region.

TypeIDPosition(s)Description
Domain3-116Chorein N-terminal
Repeat212-245TPR 1
Repeat373-406TPR 2
Motif838-844FFAT
Region1343-1365Disordered
Repeat1806-1840TPR 3
Repeat1999-2034TPR 4
Domain2202-2447SHR-BD
Region2607-3166Required for mitochondrial localization
Repeat2716-2750TPR 5
Region2743-3166Required for mitochondrial localization
Repeat2852-2890TPR 6
Region2945-3019Required for lipid droplet localization

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

Phylogenomic databases

Family and domain databases

Sequence & Isoform

Align isoforms (2)
  • Sequence status
    Complete

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.

  • Length
    3,166
  • Mass (Da)
    359,401
  • Last updated
    2005-03-01 v1
  • Checksum
    68EFBB87EF7833B0
MVFESVVVEVLNRFLGDYVVNLDESQLSLGIWKGAVALKNLVIKENALHELDVPFKVKVGHIGSLKLKIPWKNLYTQPVEAVLEEIFLLIVPSSRIQYDPIKEEKQLMETKQQELKRIEKAKQKVFDKEKPREEKQDTFTEKLVTQIIQNLQVQISSIHIRYEDDITNGDKPLSFGISLQNISLQTTDQYWIPCLHDNTEKLVRKLIRLDNLFAYWNVNSEMFYLNDYDESLKALKNGIVNENIVPEGYDFVFRPISASAKLQMNRRSDFDFSDPKINLAVDLHTIAIEFNKPQYFSLMELLESIDMMTQNQPYRKFKPSVPLHLHAKEWWAYAIHSILEVNVCPSLRMWSWEHIRNHRYKMKRYREFYKKKLTSKKPSPEILMSLEELEKTLDVFNITIARQQAEVEAKKAGYKIYKEGVKDPEDNAGWFGWLWTWSESNANQQQDVKPGILEEMLTPEEKSLLYEAIGYSETAVDPTLPKTFEALKFFVHLKSMSIVLRENHQKPELLNVVVEGLSTSVVQRPGAQAIKFETKIDSFHITGLPDDFKKPHLLSSLDDTSLLQITFEINPLNETVAQRCTIEAEPLEIIYDARTVNSIVEFFRPPKDVHLAQLTSVTLTKLEEFRAKTATGLLYVIETQKVLDLRINVKASYVIVPQYGNFSPTSNLLLLDLGHLKVSSKRRSLLPDVRPSEASLEDIMHRAYDSFDIQLTSIQLLYSRVGDNWKEARKLNVSTQHILIPMHVNVELSKAMVFMDIKMPKFKISGKLPLVSLRISDKKLQGIMELLGSIPKPEPVTDVSAPARSFQIQASALPVSHISQKLIPLLEQPVTEDDSEEEFFDAPCSPLEECPQVSCRDKCTRQKKLQKKDCVMNLIQLRMRFEVAEVSIQFYHLVGDCELPVLEMGALGLGTEAEFRTFDLKGSAFLKELWLKCPEYLDENKKPVYLITTLDNTMEDLLTLEFMKVEKNAPNLNSTYNNVLQLIKVNFSSLDIHLHTEALLNTMNYLNNILPELREKSASVSAAEPEDKGDIIKKLALKLPTNEDIITLQLLAELSCLQIFIQDQKQNISEIKIEGLDSEMIMKPLVTEINAKLRNIIVLDSDKMAIYKKALYITGKEVFSFKMISYMDATAGYAYTDMSVVDIRVHLTVGCIEVVFITKFLYSILAFIDNFQAVKDALAEATVQAAEMAADGVKELARKSSRFALDVNIKAPVVLIPQSPVSQNVFVADFGLITMKNIFVTVTETQSNIPPVIDLITIKLSKMRLYRSQFRNDTYQEVLDLLLPLNLEVIVERNLSWEWYKEVPCFNIKAQLKPMEFILSQEDLTTVFQTLHGNIWYGQDLSAPSSANKDPETMTSGVTSPPDHSPATVVTAAVVEVHPQASQAHTMLNVSFQTDYLTMALYSPGPDEASFTDVRDPSLELAEFKLENIISSLKIYTDDSTVFSFSVKNCILDDKRSHVMKATPRMIGLTVGFDKKDMVDIKYRKIKTFVVTDAVVQEMYVCASVEFLMTVAHIFFDAYMTSTALETSVQTRTTREAPAQELGKWEMNILIKNPEIVFVADMTRNDAPALVITTQCEICCKGEPTSNTVTAAIKDLQVRACPFLPVKRKGKVTTVLQPCDLFYQATQLGRDPQMIDISVKSLTLKVSPVIINTIITITSALYTTKETVPEENTSNIAHLWDKKDTKNLKMWFLEESNESEKVVPTNEVMPGGETLNLRIDSIFIVLEAGIGHRTVPMLLAKACFSGESKNWLSLINLHCHLELEVHYYNEMFGVWEPLLEPLEIDQTDDFRPWNLGIKMKKKAKEAIVESDSEAENYKVPEYKTAISFYSRDQLNITLSKCGLVMLNNLVEAFTEAATGSSSVFLRDLAPFMIFNSLGLTVSVSPSDSFSVLNVPLAKSYELKNDESLSMDYVRTKDNDHFNAMTSLSSKLFFILLTPANHSVADKIPLTKVGRRLYTVRHRESGVERSIICQIDTVEGSKKVTIRSPVQIKNHFSIPISVFEGDTLLGIASPENEFNIPLASYRSSLSLVPEDQDYQLCEGIDFEEIIKYDGQLLKKKCRSTNPSKKSFVINIVPEKDNLASLSVYSEDGWDLPYVLHLWPPILIRNLLPYKVAYYIEGIENTVVTLSEGHSSQIYNVEMDQAKLHLKLLDYLNHDWKSEFYIRSSQQDINFINFTCLTEMEKSDLDIAIHMTYNTGQTVVAFHSPYWMVNKTNRMLQYKADGIHRKHPPNYTKPVLFSFQPNHFFNNNKVQLMVTDSELSDQFSIDTVGSHGAIRCKGLKMEYQVGVTINLSSFNITRIVTFIPFYMIKNKSKYHISVAEEGSDKWLSLDLEQSIPFWPENASNILLIQVERSEDPPKRIYFNKQDNCILLRLNNELGGIIAEVNLAEHSTVITFSDYHDGAATFLLINHTKSDPVQYNQSSLGEIEDSLPPGKAVYYTWADPVGSRKLKWSCGQSYGEVTHKDDMMTPISVGKKTIYLVSFFEGLQRIILFTEDPRVFKVTYESEKAELAELEVVLALQDVGISLVNNYTKQEVAYIGITSSDVVWEAKPKKKARWKPMSVKHTEKLEKEFREYTEASPLEDKVVELDNIPVRLTPSGNDMKILQPHVIPVRRNYLPALKVEYNTSAHQSSFRIQIYRIQIQNQIHGAIFPFVFYPIKPPRSVTMDSAPKPFTDVSIVMRSAGHSQISRIKYFKVLIQEMDLSLDLGFVYALADLVTKAEVTEKTEVEHFHKDVEAFEQEYEVVSSVDQSQVNLFEYFHISPIKLHLSVSLSSGRDEAKDSEQHGGLIPVHSLNLLLKSIGATLTDVQDVVFKLAFFELNYQFHTTSELQSEVIRHYSKQAIKQMYVLILGLDVLGNPFGLIREFSEGVEAFFYEPYQGAIQGPEEFVEGMALGLKALVGGAVGGLAGAASKITSAMAKGVAAMTMDEDYQQKRREAMNKQPAGLREGITRGGKGLVSGFVSGITGIVTKPIKGAQKEGAAGFFKGVGKGLVGAVTRPTGGIIDMASSTFQGIKRATETSEVESLRPPRFFNEDGVIRPYRLRDGSGNQMLQVMENGRFAKYKYFTHVMINKTDMFMITRRGVLFVTKGTFGQLTCEWQYTFDEFTKEPFIVHGRRLRIEAKERVKSVFHAKEFGKIVNFKTPEDARWILTKLEEAREPSPRL

Q5H8C4-2

Computationally mapped potential isoform sequences

There are 3 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
A0A494B9C3A0A494B9C3_MOUSEVps13a148
A0A286YCT3A0A286YCT3_MOUSEVps13a2339
A0A286YCC3A0A286YCC3_MOUSEVps13a857

Sequence caution

The sequence BAE22761.1 differs from that shown. Reason: Miscellaneous discrepancy Intron retention.

Features

Showing features for alternative sequence.

TypeIDPosition(s)Description
Alternative sequenceVSP_0522413056-3061in isoform 2
Alternative sequenceVSP_0522423062-3166in isoform 2

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
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

Genome annotation databases

Similar Proteins

Disclaimer

Any 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. Our staff consists of biologists and biochemists that are not trained to give medical advice.
We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.
FeedbackHelp