Seroatlas · Human Serome Atlas

VPS13A

Intermembrane lipid transfer protein VPS13A

Also known as: BLTP5A, CHAC, KIAA0986, VP13A_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96RL7
Gene: VPS13A
Ensembl: ENSG00000197969
Chromosome: 9
Canonical length: 3174 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location: Mitochondria

OverviewNCBI Gene

The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

3174 residues, UniProt reviewed canonical sequence.

>Q96RL7|VPS13A
     1  MVFESVVVDV LNRFLGDYVV DLDTSQLSLG IWKGAVALKN LQIKENALSQ LDVPFKVKVG
    61  HIGNLKLIIP WKNLYTQPVE AVLEEIYLLI VPSSRIKYDP LKEEKQLMEA KQQELKRIEE
   121  AKQKVVDQEQ HLPEKQDTFA EKLVTQIIKN LQVKISSIHI RYEDDITNRD KPLSFGISLQ
   181  NLSMQTTDQY WVPCLHDETE KLVRKLIRLD NLFAYWNVKS QMFYLSDYDN SLDDLKNGIV
   241  NENIVPEGYD FVFRPISANA KLVMNRRSDF DFSAPKINLE IELHNIAIEF NKPQYFSIME
   301  LLESVDMMAQ NLPYRKFKPD VPLHHHAREW WAYAIHGVLE VNVCPRLWMW SWKHIRKHRQ
   361  KVKQYKELYK KKLTSKKPPG ELLVSLEELE KTLDVFNITI ARQTAEVEVK KAGYKIYKEG
   421  VKDPEDNKGW FSWLWSWSEQ NTNEQQPDVQ PETLEEMLTP EEKALLYEAI GYSETAVDPT
   481  LLKTFEALKF FVHLKSMSIV LRENHQKPEL VDIVIEEFST LIVQRPGAQA IKFETKIDSF
   541  HITGLPDNSE KPRLLSSLDD AMSLFQITFE INPLDETVSQ RCIIEAEPLE IIYDARTVNS
   601  IVEFFRPPKE VHLAQLTAAT LTKLEEFRSK TATGLLYIIE TQKVLDLKIN LKASYIIVPQ
   661  DGIFSPTSNL LLLDLGHLKV TSKSRSELPD VKQGEANLKE IMDRAYDSFD IQLTSVQLLY
   721  SRVGDNWREA RKLSVSTQHI LVPMHFNLEL SKAMVFMDVR MPKFKIYGKL PLISLRISDK
   781  KLQGIMELIE SIPKPEPVTE VSAPVKSFQI QTSTSLGTSQ ISQKIIPLLE LPSVSEDDSE
   841  EEFFDAPCSP LEEPLQFPTG VKSIRTRKLQ KQDCSVNMTT FKIRFEVPKV LIEFYHLVGD
   901  CELSVVEILV LGLGAEIEIR TYDLKANAFL KEFCLKCPEY LDENKKPVYL VTTLDNTMED
   961  LLTLEYVKAE KNVPDLKSTY NNVLQLIKVN FSSLDIHLHT EALLNTINYL HNILPQSEEK
  1021  SAPVSTTETE DKGDVIKKLA LKLSTNEDII TLQILAELSC LQIFIQDQKC NISEIKIEGL
  1081  DSEMIMRPSE TEINAKLRNI IVLDSDITAI YKKAVYITGK EVFSFKMVSY MDATAGSAYT
  1141  DMNVVDIQVN LIVGCIEVVF VTKFLYSILA FIDNFQAAKQ ALAEATVQAA GMAATGVKEL
  1201  AQRSSRMALD INIKAPVVVI PQSPVSENVF VADFGLITMT NTFHMITESQ SSPPPVIDLI
  1261  TIKLSEMRLY RSRFINDAYQ EVLDLLLPLN LEVVVERNLC WEWYQEVPCF NVNAQLKPME
  1321  FILSQEDITT IFKTLHGNIW YEKDGSASPA VTKDQYSATS GVTTNASHHS GGATVVTAAV
  1381  VEVHSRALLV KTTLNISFKT DDLTMVLYSP GPKQASFTDV RDPSLKLAEF KLENIISTLK
  1441  MYTDGSTFSS FSLKNCILDD KRPHVKKATP RMIGLTVGFD KKDMMDIKYR KVRDGCVTDA
  1501  VFQEMYICAS VEFLQTVANV FLEAYTTGTA VETSVQTWTA KEEVPTQESV KWEINVIIKN
  1561  PEIVFVADMT KNDAPALVIT TQCEICYKGN LENSTMTAAI KDLQVRACPF LPVKRKGKIT
  1621  TVLQPCDLFY QTTQKGTDPQ VIDMSVKSLT LKVSPVIINT MITITSALYT TKETIPEETA
  1681  SSTAHLWEKK DTKTLKMWFL EESNETEKIA PTTELVPKGE MIKMNIDSIF IVLEAGIGHR
  1741  TVPMLLAKSR FSGEGKNWSS LINLHCQLEL EVHYYNEMFG VWEPLLEPLE IDQTEDFRPW
  1801  NLGIKMKKKA KMAIVESDPE EENYKVPEYK TVISFHSKDQ LNITLSKCGL VMLNNLVKAF
  1861  TEAATGSSAD FVKDLAPFMI LNSLGLTISV SPSDSFSVLN IPMAKSYVLK NGESLSMDYI
  1921  RTKDNDHFNA MTSLSSKLFF ILLTPVNHST ADKIPLTKVG RRLYTVRHRE SGVERSIVCQ
  1981  IDTVEGSKKV TIRSPVQIRN HFSVPLSVYE GDTLLGTASP ENEFNIPLGS YRSFIFLKPE
  2041  DENYQMCEGI DFEEIIKNDG ALLKKKCRSK NPSKESFLIN IVPEKDNLTS LSVYSEDGWD
  2101  LPYIMHLWPP ILLRNLLPYK IAYYIEGIEN SVFTLSEGHS AQICTAQLGK ARLHLKLLDY
  2161  LNHDWKSEYH IKPNQQDISF VSFTCVTEME KTDLDIAVHM TYNTGQTVVA FHSPYWMVNK
  2221  TGRMLQYKAD GIHRKHPPNY KKPVLFSFQP NHFFNNNKVQ LMVTDSELSN QFSIDTVGSH
  2281  GAVKCKGLKM DYQVGVTIDL SSFNITRIVT FTPFYMIKNK SKYHISVAEE GNDKWLSLDL
  2341  EQCIPFWPEY ASSKLLIQVE RSEDPPKRIY FNKQENCILL RLDNELGGII AEVNLAEHST
  2401  VITFLDYHDG AATFLLINHT KNELVQYNQS SLSEIEDSLP PGKAVFYTWA DPVGSRRLKW
  2461  RCRKSHGEVT QKDDMMMPID LGEKTIYLVS FFEGLQRIIL FTEDPRVFKV TYESEKAELA
  2521  EQEIAVALQD VGISLVNNYT KQEVAYIGIT SSDVVWETKP KKKARWKPMS VKHTEKLERE
  2581  FKEYTESSPS EDKVIQLDTN VPVRLTPTGH NMKILQPHVI ALRRNYLPAL KVEYNTSAHQ
  2641  SSFRIQIYRI QIQNQIHGAV FPFVFYPVKP PKSVTMDSAP KPFTDVSIVM RSAGHSQISR
  2701  IKYFKVLIQE MDLRLDLGFI YALTDLMTEA EVTENTEVEL FHKDIEAFKE EYKTASLVDQ
  2761  SQVSLYEYFH ISPIKLHLSV SLSSGREEAK DSKQNGGLIP VHSLNLLLKS IGATLTDVQD
  2821  VVFKLAFFEL NYQFHTTSDL QSEVIRHYSK QAIKQMYVLI LGLDVLGNPF GLIREFSEGV
  2881  EAFFYEPYQG AIQGPEEFVE GMALGLKALV GGAVGGLAGA ASKITGAMAK GVAAMTMDED
  2941  YQQKRREAMN KQPAGFREGI TRGGKGLVSG FVSGITGIVT KPIKGAQKGG AAGFFKGVGK
  3001  GLVGAVARPT GGIIDMASST FQGIKRATET SEVESLRPPR FFNEDGVIRP YRLRDGTGNQ
  3061  MLQVMENGRF AKYKYFTHVM INKTDMLMIT RRGVLFVTKG TFGQLTCEWQ YSFDEFTKEP
  3121  FIVHGRRLRI EAKERVKSVF HAREFGKIIN FKTPEDARWI LTKLQEAREP SPSL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against VPS13A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0
Highest tissue expression: 17 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 17 nTPM
testis: 16 nTPM
duodenum: 15 nTPM
skin: 15 nTPM
skeletal muscle: 14 nTPM
small intestine: 13 nTPM

Single-cell type

myonuclei: 608 nCPM
gonadotrophs: 317 nCPM
proximal tubule cells: 309 nCPM
cardiomyocytes: 302 nCPM
somatotrophs: 275 nCPM
thyrotrophs: 270 nCPM

Immune cell

basophil: 3.7 nTPM
plasmacytoid DC: 2.2 nTPM
eosinophil: 2 nTPM
gdT-cell: 1.2 nTPM
MAIT T-cell: 1.2 nTPM
naive B-cell: 1.2 nTPM

Brain region

cerebellum: 50 nTPM
cerebral cortex: 47 nTPM
hippocampal formation: 36 nTPM
choroid plexus: 35 nTPM
basal ganglia: 34 nTPM
white matter: 33 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about VPS13A.

Disease | AllUniProt

Conditions VPS13A is implicated in, by any mechanism.

Choreoacanthocytosis (CHAC) MIM:200150

Disease | GeneticClinVar

499 pathogenic / likely-pathogenic of 3,916 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

VPS13A-related neurodegenerative disease
VPS13A-related disorder
Inborn genetic diseases
Abnormality of the nervous system
primray hypomagnesemia with secondary hypocalcemia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.48
gnomAD pLI: 0
gnomAD missense Z: 1.76
DepMap mean gene effect: 0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of VPS13A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads VPS13A as an antibody target. Whether an autoantibody or antibody against VPS13A could matter depends on whether native VPS13A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

VPS13A is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label VPS13A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...