Property Summary

NCBI Gene PubMed Count 34
PubMed Score 187.68
PubTator Score 99.04

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (18)

Disease log2 FC p
astrocytic glioma -1.500 6.1e-03
oligodendroglioma -1.200 4.0e-02
osteosarcoma -2.501 9.6e-07
ependymoma -1.500 6.6e-08
glioblastoma -2.500 1.5e-09
medulloblastoma -2.500 3.3e-06
atypical teratoid / rhabdoid tumor -2.600 4.4e-09
medulloblastoma, large-cell -2.400 1.5e-06
primitive neuroectodermal tumor -2.300 5.6e-07
ulcerative colitis -1.100 1.1e-02
intraductal papillary-mucinous adenoma (... 2.200 3.2e-04
intraductal papillary-mucinous carcinoma... 2.100 8.7e-04
intraductal papillary-mucinous neoplasm ... 2.300 3.2e-03
pediatric high grade glioma -1.600 8.0e-05
pilocytic astrocytoma -1.100 2.7e-03
Breast cancer -1.400 7.2e-13
invasive ductal carcinoma -1.100 2.3e-03
ovarian cancer -1.800 8.5e-07

 OMIM Phenotype (1)

Pathway (1)

Gene RIF (17)

PMID Text
26813249 Patients with chorea-acanthocytosis carrying a VPS13A mutation present with focal, treatment-resistant seizures.
26316086 Defective chorein is accompanied by significant structural disorganization of all cytoskeletal structures.
25996471 VPS13A-depleted cells showed accumulation of autophagic markers and impaired autophagic flux
25871399 Chorein is expressed in various cancer cells. In cells with high chorein expression levels chorein silencing promotes apoptotic cell death, an effect paralleled by down-regulation of PI-3K activity and BCL-2/Bax expression ratio.
24129186 chorein interacts with beta-adducin and beta-actin.
23746940 Discovery of new mutations may clarify the pathogenic roles of chorein in chorea-acanthocytosis as well as in the retina
23568775 Data indicate functions of chorein, i.e., regulation of secretion and aggregation of blood platelets.
22366033 these results suggest that chorein is involved in exocytosis of dense-core vesicles.
22227296 Results reveal chorein as a novel powerful regulator of cytoskeletal architecture and cell survival, thus explaining erythrocyte misshape and possibly neurodegeneration in chorea-acanthocytosis.
22038564 This study demonistrated that neuroacanthocytosis disorders has heterozygotes for mutations in the VPS13A gene.
21987550 A mutation was identified in the VPS13A gene, responsible for autosomal recessive chorea-acanthocytosis.
21733561 Frameshift mutations of VPS genes and losses of expression of Vps13A and Vps35 proteins are common in gastric cancers and colorectal cancers with high microsatellite instability.
21598378 identified 36 pathogenic mutations of VPS13A, 20 of which were previously unreported, including two novel copy number variations
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
17998451 A Mexican family, two sister, after mutation screening of the VPS13A gene revealed homozygosity for the frameshift mutation c.3556_3557dupAC in exon 33.
17673232 The index patient was homozygous for a 3889C>T nonsense mutation in the VPS13A gene and presented with a typical ChAc phenotype.
15918062 Founder mutation and single-nucleotid epolymorphisms in chorea-acanthocytosis in French-Canadians.

AA Sequence

MVFESVVVDVLNRFLGDYVVDLDTSQLSLGIWKGAVALKNLQIKENALSQLDVPFKVKVGHIGNLKLIIP      1 - 70
WKNLYTQPVEAVLEEIYLLIVPSSRIKYDPLKEEKQLMEAKQQELKRIEEAKQKVVDQEQHLPEKQDTFA     71 - 140
EKLVTQIIKNLQVKISSIHIRYEDDITNRDKPLSFGISLQNLSMQTTDQYWVPCLHDETEKLVRKLIRLD    141 - 210
NLFAYWNVKSQMFYLSDYDNSLDDLKNGIVNENIVPEGYDFVFRPISANAKLVMNRRSDFDFSAPKINLE    211 - 280
IELHNIAIEFNKPQYFSIMELLESVDMMAQNLPYRKFKPDVPLHHHAREWWAYAIHGVLEVNVCPRLWMW    281 - 350
SWKHIRKHRQKVKQYKELYKKKLTSKKPPGELLVSLEELEKTLDVFNITIARQTAEVEVKKAGYKIYKEG    351 - 420
VKDPEDNKGWFSWLWSWSEQNTNEQQPDVQPETLEEMLTPEEKALLYEAIGYSETAVDPTLLKTFEALKF    421 - 490
FVHLKSMSIVLRENHQKPELVDIVIEEFSTLIVQRPGAQAIKFETKIDSFHITGLPDNSEKPRLLSSLDD    491 - 560
AMSLFQITFEINPLDETVSQRCIIEAEPLEIIYDARTVNSIVEFFRPPKEVHLAQLTAATLTKLEEFRSK    561 - 630
TATGLLYIIETQKVLDLKINLKASYIIVPQDGIFSPTSNLLLLDLGHLKVTSKSRSELPDVKQGEANLKE    631 - 700
IMDRAYDSFDIQLTSVQLLYSRVGDNWREARKLSVSTQHILVPMHFNLELSKAMVFMDVRMPKFKIYGKL    701 - 770
PLISLRISDKKLQGIMELIESIPKPEPVTEVSAPVKSFQIQTSTSLGTSQISQKIIPLLELPSVSEDDSE    771 - 840
EEFFDAPCSPLEEPLQFPTGVKSIRTRKLQKQDCSVNMTTFKIRFEVPKVLIEFYHLVGDCELSVVEILV    841 - 910
LGLGAEIEIRTYDLKANAFLKEFCLKCPEYLDENKKPVYLVTTLDNTMEDLLTLEYVKAEKNVPDLKSTY    911 - 980
NNVLQLIKVNFSSLDIHLHTEALLNTINYLHNILPQSEEKSAPVSTTETEDKGDVIKKLALKLSTNEDII    981 - 1050
TLQILAELSCLQIFIQDQKCNISEIKIEGLDSEMIMRPSETEINAKLRNIIVLDSDITAIYKKAVYITGK   1051 - 1120
EVFSFKMVSYMDATAGSAYTDMNVVDIQVNLIVGCIEVVFVTKFLYSILAFIDNFQAAKQALAEATVQAA   1121 - 1190
GMAATGVKELAQRSSRMALDINIKAPVVVIPQSPVSENVFVADFGLITMTNTFHMITESQSSPPPVIDLI   1191 - 1260
TIKLSEMRLYRSRFINDAYQEVLDLLLPLNLEVVVERNLCWEWYQEVPCFNVNAQLKPMEFILSQEDITT   1261 - 1330
IFKTLHGNIWYEKDGSASPAVTKDQYSATSGVTTNASHHSGGATVVTAAVVEVHSRALLVKTTLNISFKT   1331 - 1400
DDLTMVLYSPGPKQASFTDVRDPSLKLAEFKLENIISTLKMYTDGSTFSSFSLKNCILDDKRPHVKKATP   1401 - 1470
RMIGLTVGFDKKDMMDIKYRKVRDGCVTDAVFQEMYICASVEFLQTVANVFLEAYTTGTAVETSVQTWTA   1471 - 1540
KEEVPTQESVKWEINVIIKNPEIVFVADMTKNDAPALVITTQCEICYKGNLENSTMTAAIKDLQVRACPF   1541 - 1610
LPVKRKGKITTVLQPCDLFYQTTQKGTDPQVIDMSVKSLTLKVSPVIINTMITITSALYTTKETIPEETA   1611 - 1680
SSTAHLWEKKDTKTLKMWFLEESNETEKIAPTTELVPKGEMIKMNIDSIFIVLEAGIGHRTVPMLLAKSR   1681 - 1750
FSGEGKNWSSLINLHCQLELEVHYYNEMFGVWEPLLEPLEIDQTEDFRPWNLGIKMKKKAKMAIVESDPE   1751 - 1820
EENYKVPEYKTVISFHSKDQLNITLSKCGLVMLNNLVKAFTEAATGSSADFVKDLAPFMILNSLGLTISV   1821 - 1890
SPSDSFSVLNIPMAKSYVLKNGESLSMDYIRTKDNDHFNAMTSLSSKLFFILLTPVNHSTADKIPLTKVG   1891 - 1960
RRLYTVRHRESGVERSIVCQIDTVEGSKKVTIRSPVQIRNHFSVPLSVYEGDTLLGTASPENEFNIPLGS   1961 - 2030
YRSFIFLKPEDENYQMCEGIDFEEIIKNDGALLKKKCRSKNPSKESFLINIVPEKDNLTSLSVYSEDGWD   2031 - 2100
LPYIMHLWPPILLRNLLPYKIAYYIEGIENSVFTLSEGHSAQICTAQLGKARLHLKLLDYLNHDWKSEYH   2101 - 2170
IKPNQQDISFVSFTCVTEMEKTDLDIAVHMTYNTGQTVVAFHSPYWMVNKTGRMLQYKADGIHRKHPPNY   2171 - 2240
KKPVLFSFQPNHFFNNNKVQLMVTDSELSNQFSIDTVGSHGAVKCKGLKMDYQVGVTIDLSSFNITRIVT   2241 - 2310
FTPFYMIKNKSKYHISVAEEGNDKWLSLDLEQCIPFWPEYASSKLLIQVERSEDPPKRIYFNKQENCILL   2311 - 2380
RLDNELGGIIAEVNLAEHSTVITFLDYHDGAATFLLINHTKNELVQYNQSSLSEIEDSLPPGKAVFYTWA   2381 - 2450
DPVGSRRLKWRCRKSHGEVTQKDDMMMPIDLGEKTIYLVSFFEGLQRIILFTEDPRVFKVTYESEKAELA   2451 - 2520
EQEIAVALQDVGISLVNNYTKQEVAYIGITSSDVVWETKPKKKARWKPMSVKHTEKLEREFKEYTESSPS   2521 - 2590
EDKVIQLDTNVPVRLTPTGHNMKILQPHVIALRRNYLPALKVEYNTSAHQSSFRIQIYRIQIQNQIHGAV   2591 - 2660
FPFVFYPVKPPKSVTMDSAPKPFTDVSIVMRSAGHSQISRIKYFKVLIQEMDLRLDLGFIYALTDLMTEA   2661 - 2730
EVTENTEVELFHKDIEAFKEEYKTASLVDQSQVSLYEYFHISPIKLHLSVSLSSGREEAKDSKQNGGLIP   2731 - 2800
VHSLNLLLKSIGATLTDVQDVVFKLAFFELNYQFHTTSDLQSEVIRHYSKQAIKQMYVLILGLDVLGNPF   2801 - 2870
GLIREFSEGVEAFFYEPYQGAIQGPEEFVEGMALGLKALVGGAVGGLAGAASKITGAMAKGVAAMTMDED   2871 - 2940
YQQKRREAMNKQPAGFREGITRGGKGLVSGFVSGITGIVTKPIKGAQKGGAAGFFKGVGKGLVGAVARPT   2941 - 3010
GGIIDMASSTFQGIKRATETSEVESLRPPRFFNEDGVIRPYRLRDGTGNQMLQVMENGRFAKYKYFTHVM   3011 - 3080
INKTDMLMITRRGVLFVTKGTFGQLTCEWQYSFDEFTKEPFIVHGRRLRIEAKERVKSVFHAREFGKIIN   3081 - 3150
FKTPEDARWILTKLQEAREPSPSL                                                 3151 - 3174
//

Text Mined References (37)

PMID Year Title
26813249 2016 Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.
26316086 2015 Chorein Sensitive Arrangement of Cytoskeletal Architecture.
25996471 2015 TipC and the chorea-acanthocytosis protein VPS13A regulate autophagy in Dictyostelium and human HeLa cells.
25871399 2015 Chorein addiction in VPS13A overexpressing rhabdomyosarcoma cells.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24129186 2013 Chorein, the protein responsible for chorea-acanthocytosis, interacts with ?-adducin and ?-actin.
23746940 2013 Ophthalmologic involvement in Japanese siblings with chorea-acanthocytosis caused by a novel chorein mutation.
23568775 2013 Chorein sensitivity of cytoskeletal organization and degranulation of platelets.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22366033 2012 Subcellular localization and putative role of VPS13A/chorein in dopaminergic neuronal cells.
22227296 2012 Chorein-sensitive polymerization of cortical actin and suicidal cell death in chorea-acanthocytosis.
22038564 2012 Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing.
21987550 2011 Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred.
21733561 2012 Frameshift mutations of vacuolar protein sorting genes in gastric and colorectal cancers with microsatellite instability.
21598378 2011 Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
17998451 2007 Choreoacanthocytosis in a Mexican family.
17673232 2007 Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree.
17474147 2007 Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
15918062 2005 Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis.
15498460 2004 Analysis of the human VPS13 gene family.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164053 2004 DNA sequence and analysis of human chromosome 9.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12671946 2003 Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12404112 2002 Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.
11381254 2001 The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis.
11381253 2001 A conserved sorting-associated protein is mutant in chorea-acanthocytosis.
10737800 2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.
10231032 1999 Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
9382101 1997 Chorea-acanthocytosis: genetic linkage to chromosome 9q21.
9110174 1997 Large-scale concatenation cDNA sequencing.
8619474 1996 A "double adaptor" method for improved shotgun library construction.