Property Summary

NCBI Gene PubMed Count 34
PubMed Score 187.68
PubTator Score 99.04

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (7)

Disease Target Count
Chorea Acanthocytosis Syndrome 2
Disease Target Count P-value
Breast cancer 3099 7.18783704469392E-13
glioblastoma 5572 1.51041563272076E-9
atypical teratoid / rhabdoid tumor 4369 4.37856768821275E-9
ependymoma 2514 6.62969087452167E-8
primitive neuroectodermal tumor 3031 5.61888281399751E-7
ovarian cancer 8492 8.46913247790875E-7
osteosarcoma 7933 9.61472668149691E-7
medulloblastoma, large-cell 6234 1.52197183917867E-6
medulloblastoma 1524 3.34944884815464E-6
pediatric high grade glioma 2712 7.97801021484821E-5
intraductal papillary-mucinous adenoma (IPMA) 2956 3.15146604296249E-4
intraductal papillary-mucinous carcinoma (IPMC) 2988 8.68374358216443E-4
invasive ductal carcinoma 2950 0.00234356268939816
pilocytic astrocytoma 3086 0.00274077419409426
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.00323221421881895
astrocytic glioma 2241 0.00611791426670545
ulcerative colitis 2087 0.0112710627102572
oligodendroglioma 2849 0.0396919058251946
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
chorea-acanthocytosis 11 0.0 5.0
Disease Target Count Z-score Confidence
Neurodegenerative disease 383 4.809 2.4
Epilepsy 346 0.0 4.0
Disease Target Count
Choreoacanthocytosis 1

Expression

Synonym

Accession Q96RL7 Q5JSX9 Q5JSY0 Q5VYR5 Q702P4 Q709D0 Q86YF8 Q96S61 Q9H995 Q9Y2J1
Symbols CHAC
CHOREIN

Gene

  Ortholog (10)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Pig OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus EggNOG Inparanoid
Chicken OMA EggNOG
Anole lizard OMA EggNOG Inparanoid

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.
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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.
More...