LOCUS       NP_766616               3166 aa            linear   ROD 03-JUN-2025
DEFINITION  intermembrane lipid transfer protein VPS13A [Mus musculus].
ACCESSION   NP_766616 XP_488526
VERSION     NP_766616.2
DBSOURCE    REFSEQ: accession NM_173028.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (residues 1 to 3166)
  AUTHORS   Pinyomahakul,J., Ise,M., Kawamura,M., Yamada,T., Okuyama,K.,
            Shibata,S., Takizawa,J., Abe,M., Sakimura,K. and Takebayashi,H.
  TITLE     Analysis of Brain, Blood, and Testis Phenotypes Lacking the Vps13a
            Gene in C57BL/6N Mice
  JOURNAL   Int J Mol Sci 25 (14), 7776 (2024)
   PUBMED   39063018
  REMARK    GeneRIF: Analysis of Brain, Blood, and Testis Phenotypes Lacking
            the Vps13a Gene in C57BL/6N Mice.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 3166)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   3  (residues 1 to 3166)
  AUTHORS   Garcia-Garcia,E., Ramon-Lainez,A., Conde-Berriozabal,S., Del
            Toro,D., Escaramis,G., Giralt,A., Masana,M., Alberch,J. and
            Rodriguez,M.J.
  TITLE     VPS13A knockdown impairs corticostriatal synaptic plasticity and
            locomotor behavior in a new mouse model of chorea-acanthocytosis
  JOURNAL   Neurobiol Dis 187, 106292 (2023)
   PUBMED   37714309
REFERENCE   4  (residues 1 to 3166)
  AUTHORS   Montillot,C., Skutunova,E., Ayushma, Dubied,M., Lahmar,A.,
            Nguyen,S., Peerally,B., Prin,F., Duffourd,Y., Thauvin-Robinet,C.,
            Duplomb,L., Wang,H., Ansar,M., Faivre,L., Navarro,N., Minocha,S.,
            Collins,S.C. and Yalcin,B.
  TITLE     Characterization of Vps13b-mutant mice reveals neuroanatomical and
            behavioral phenotypes with females less affected
  JOURNAL   Neurobiol Dis 185, 106259 (2023)
   PUBMED   37573958
REFERENCE   5  (residues 1 to 3166)
  AUTHORS   Garcia-Garcia,E., Chaparro-Cabanillas,N., Coll-Manzano,A.,
            Carreras-Caballe,M., Giralt,A., Del Toro,D., Alberch,J., Masana,M.
            and Rodriguez,M.J.
  TITLE     Unraveling the Spatiotemporal Distribution of VPS13A in the Mouse
            Brain
  JOURNAL   Int J Mol Sci 22 (23), 13018 (2021)
   PUBMED   34884823
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 3166)
  AUTHORS   Shiokawa,N., Nakamura,M., Sameshima,M., Deguchi,A., Hayashi,T.,
            Sasaki,N. and Sano,A.
  TITLE     Chorein, the protein responsible for chorea-acanthocytosis,
            interacts with beta-adducin and beta-actin
  JOURNAL   Biochem Biophys Res Commun 441 (1), 96-101 (2013)
   PUBMED   24129186
  REMARK    GeneRIF: chorein interacts with beta-adducin and beta-actin.
REFERENCE   7  (residues 1 to 3166)
  AUTHORS   Hayashi,T., Kishida,M., Nishizawa,Y., Iijima,M., Koriyama,C.,
            Nakamura,M., Sano,A. and Kishida,S.
  TITLE     Subcellular localization and putative role of VPS13A/chorein in
            dopaminergic neuronal cells
  JOURNAL   Biochem Biophys Res Commun 419 (3), 511-516 (2012)
   PUBMED   22366033
REFERENCE   8  (residues 1 to 3166)
  AUTHORS   Mizuno,E., Nakamura,M., Agemura,A., Kusumoto,A., Ichiba,M.,
            Kurano,Y., Muroya,S. and Sano,A.
  TITLE     Brain-specific transcript variants of 5' and 3' ends of mouse
            VPS13A and VPS13C
  JOURNAL   Biochem Biophys Res Commun 353 (4), 902-907 (2007)
   PUBMED   17196930
  REMARK    GeneRIF: Brain-specific variants of VPS13A may be involved in the
            brain-specific pathology of chorea-acanthocytosis.
REFERENCE   9  (residues 1 to 3166)
  AUTHORS   Kurano,Y., Nakamura,M., Ichiba,M., Matsuda,M., Mizuno,E., Kato,M.,
            Izumo,S. and Sano,A.
  TITLE     Chorein deficiency leads to upregulation of gephyrin and GABA(A)
            receptor
  JOURNAL   Biochem Biophys Res Commun 351 (2), 438-442 (2006)
   PUBMED   17070500
REFERENCE   10 (residues 1 to 3166)
  AUTHORS   Tomemori,Y., Ichiba,M., Kusumoto,A., Mizuno,E., Sato,D., Muroya,S.,
            Nakamura,M., Kawaguchi,H., Yoshida,H., Ueno,S., Nakao,K.,
            Nakamura,K., Aiba,A., Katsuki,M. and Sano,A.
  TITLE     A gene-targeted mouse model for chorea-acanthocytosis
  JOURNAL   J Neurochem 92 (4), 759-766 (2005)
   PUBMED   15686477
  REMARK    GeneRIF: Mouse CHAC cDNA sequence and the exon-intron structures of
            the CHAC disease gene are identified and a CHAC model mouse
            produced by a gene-targeting technique.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC125185.3, AB115421.1, BC062130.1, AK076578.1 and BE687829.1.
            
            On or before May 25, 2005 this sequence version replaced
            XP_488526.2, NP_766616.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB115421.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..3166
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="19"
                     /map="19 11.71 cM"
     Protein         1..3166
                     /product="intermembrane lipid transfer protein VPS13A"
                     /note="vacuolar protein sorting-associated protein 13A;
                     chorea-acanthocytosis protein homolog"
                     /calculated_mol_wt=359271
     Region          4..>2005
                     /region_name="MRS6"
                     /note="Vacuolar protein sorting-associated protein
                     [Intracellular trafficking and secretion]; COG5043"
                     /db_xref="CDD:227376"
     Region          139..371
                     /region_name="VPS13"
                     /note="Vacuolar sorting-associated protein 13, N-terminal;
                     pfam16908"
                     /db_xref="CDD:465309"
     Region          212..245
                     /region_name="TPR 1. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H8C4.1)"
     Region          373..406
                     /region_name="TPR 2. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H8C4.1)"
     Site            831
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:21183079; propagated from
                     UniProtKB/Swiss-Prot (Q5H8C4.1)"
     Site            835
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21183079; propagated from
                     UniProtKB/Swiss-Prot (Q5H8C4.1)"
     Region          838..844
                     /region_name="FFAT.
                     /evidence=ECO:0000250|UniProtKB:Q96RL7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H8C4.1)"
     Region          1343..1365
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H8C4.1)"
     Site            1410
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q96RL7; propagated from
                     UniProtKB/Swiss-Prot (Q5H8C4.1)"
     Region          1806..1840
                     /region_name="TPR 3. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H8C4.1)"
     Region          1999..2034
                     /region_name="TPR 4. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H8C4.1)"
     Region          2202..>2349
                     /region_name="SHR-BD"
                     /note="SHR-binding domain of vacuolar-sorting associated
                     protein 13; pfam06650"
                     /db_xref="CDD:461974"
     Region          2607..3166
                     /region_name="Required for mitochondrial localization.
                     /evidence=ECO:0000250|UniProtKB:Q96RL7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H8C4.1)"
     Region          <2626..3090
                     /region_name="MRS6"
                     /note="Vacuolar protein sorting-associated protein
                     [Intracellular trafficking and secretion]; COG5043"
                     /db_xref="CDD:227376"
     Region          2743..3166
                     /region_name="Required for mitochondrial localization.
                     /evidence=ECO:0000250|UniProtKB:Q96RL7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H8C4.1)"
     Region          2758..2935
                     /region_name="VPS13_C"
                     /note="Vacuolar-sorting-associated 13 protein C-terminal;
                     pfam16909"
                     /db_xref="CDD:465310"
     Region          2945..3019
                     /region_name="Required for lipid droplet localization.
                     /evidence=ECO:0000250|UniProtKB:Q96RL7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5H8C4.1)"
     CDS             1..3166
                     /gene="Vps13a"
                     /gene_synonym="4930425F11; 4930516E05Rik; 4930543C13Rik;
                     9930023P20; Chac; Chorein; D330038K10Rik; mKIAA0986"
                     /coded_by="NM_173028.4:165..9665"
                     /db_xref="CCDS:CCDS37929.1"
                     /db_xref="GeneID:271564"
                     /db_xref="MGI:MGI:2444304"
ORIGIN      
        1 mvfesvvvev lnrflgdyvv nldesqlslg iwkgavalkn lvikenalhe ldvpfkvkvg
       61 higslklkip wknlytqpve avleeiflli vpssriqydp ikeekqlmet kqqelkriek
      121 akqkvfdkek preekqdtft eklvtqiiqn lqvqissihi ryedditngd kplsfgislq
      181 nislqttdqy wipclhdnte klvrklirld nlfaywnvns emfylndyde slkalkngiv
      241 nenivpegyd fvfrpisasa klqmnrrsdf dfsdpkinla vdlhtiaief nkpqyfslme
      301 llesidmmtq nqpyrkfkps vplhlhakew wayaihsile vnvcpslrmw swehirnhry
      361 kmkryrefyk kkltskkpsp eilmsleele ktldvfniti arqqaeveak kagykiykeg
      421 vkdpednagw fgwlwtwses nanqqqdvkp gileemltpe eksllyeaig ysetavdptl
      481 pktfealkff vhlksmsivl renhqkpell nvvveglsts vvqrpgaqai kfetkidsfh
      541 itglpddfkk phllsslddt sllqitfein plnetvaqrc tieaepleii ydartvnsiv
      601 effrppkdvh laqltsvtlt kleefrakta tgllyvietq kvldlrinvk asyvivpqyg
      661 nfsptsnlll ldlghlkvss krrsllpdvr pseasledim hraydsfdiq ltsiqllysr
      721 vgdnwkeark lnvstqhili pmhvnvelsk amvfmdikmp kfkisgklpl vslrisdkkl
      781 qgimellgsi pkpepvtdvs aparsfqiqa salpvshisq kliplleqpv teddseeeff
      841 dapcspleec pqvscrdkct rqkklqkkdc vmnliqlrmr fevaevsiqf yhlvgdcelp
      901 vlemgalglg teaefrtfdl kgsaflkelw lkcpeylden kkpvylittl dntmedlltl
      961 efmkveknap nlnstynnvl qlikvnfssl dihlhteall ntmnylnnil pelreksasv
     1021 saaepedkgd iikklalklp tnediitlql laelsclqif iqdqkqnise ikiegldsem
     1081 imkplvtein aklrniivld sdkmaiykka lyitgkevfs fkmisymdat agyaytdmsv
     1141 vdirvhltvg cievvfitkf lysilafidn fqavkdalae atvqaaemaa dgvkelarks
     1201 srfaldvnik apvvlipqsp vsqnvfvadf glitmknifv tvtetqsnip pvidlitikl
     1261 skmrlyrsqf rndtyqevld lllplnlevi vernlswewy kevpcfnika qlkpmefils
     1321 qedlttvfqt lhgniwygqd lsapssankd petmtsgvts ppdhspatvv taavvevhpq
     1381 asqahtmlnv sfqtdyltma lyspgpdeas ftdvrdpsle laefklenii sslkiytdds
     1441 tvfsfsvknc ilddkrshvm katprmiglt vgfdkkdmvd ikyrkiktfv vtdavvqemy
     1501 vcasveflmt vahiffdaym tstaletsvq trttreapaq elgkwemnil iknpeivfva
     1561 dmtrndapal vittqceicc kgeptsntvt aaikdlqvra cpflpvkrkg kvttvlqpcd
     1621 lfyqatqlgr dpqmidisvk sltlkvspvi intiititsa lyttketvpe entsniahlw
     1681 dkkdtknlkm wfleesnese kvvptnevmp ggetlnlrid sifivleagi ghrtvpmlla
     1741 kacfsgeskn wlslinlhch lelevhyyne mfgvweplle pleidqtddf rpwnlgikmk
     1801 kkakeaives dseaenykvp eyktaisfys rdqlnitlsk cglvmlnnlv eafteaatgs
     1861 ssvflrdlap fmifnslglt vsvspsdsfs vlnvplaksy elkndeslsm dyvrtkdndh
     1921 fnamtslssk lffilltpan hsvadkiplt kvgrrlytvr hresgversi icqidtvegs
     1981 kkvtirspvq iknhfsipis vfegdtllgi aspenefnip lasyrsslsl vpedqdyqlc
     2041 egidfeeiik ydgqllkkkc rstnpskksf vinivpekdn laslsvysed gwdlpyvlhl
     2101 wppilirnll pykvayyieg ientvvtlse ghssqiynve mdqaklhlkl ldylnhdwks
     2161 efyirssqqd infinftclt emeksdldia ihmtyntgqt vvafhspywm vnktnrmlqy
     2221 kadgihrkhp pnytkpvlfs fqpnhffnnn kvqlmvtdse lsdqfsidtv gshgairckg
     2281 lkmeyqvgvt inlssfnitr ivtfipfymi knkskyhisv aeegsdkwls ldleqsipfw
     2341 penasnilli qversedppk riyfnkqdnc illrlnnelg giiaevnlae hstvitfsdy
     2401 hdgaatflli nhtksdpvqy nqsslgeied slppgkavyy twadpvgsrk lkwscgqsyg
     2461 evthkddmmt pisvgkktiy lvsffeglqr iilftedprv fkvtyeseka elaelevvla
     2521 lqdvgislvn nytkqevayi gitssdvvwe akpkkkarwk pmsvkhtekl ekefreytea
     2581 spledkvvel dnipvrltps gndmkilqph vipvrrnylp alkveyntsa hqssfriqiy
     2641 riqiqnqihg aifpfvfypi kpprsvtmds apkpftdvsi vmrsaghsqi srikyfkvli
     2701 qemdlsldlg fvyaladlvt kaevtektev ehfhkdveaf eqeyevvssv dqsqvnlfey
     2761 fhispiklhl svslssgrde akdseqhggl ipvhslnlll ksigatltdv qdvvfklaff
     2821 elnyqfhtts elqsevirhy skqaikqmyv lilgldvlgn pfglirefse gveaffyepy
     2881 qgaiqgpeef vegmalglka lvggavggla gaaskitsam akgvaamtmd edyqqkrrea
     2941 mnkqpaglre gitrggkglv sgfvsgitgi vtkpikgaqk egaagffkgv gkglvgavtr
     3001 ptggiidmas stfqgikrat etseveslrp prffnedgvi rpyrlrdgsg nqmlqvmeng
     3061 rfakykyfth vminktdmfm itrrgvlfvt kgtfgqltce wqytfdeftk epfivhgrrl
     3121 rieakervks vfhakefgki vnfktpedar wiltkleear epsprl
//
