LOCUS       NP_150648               3174 aa            linear   PRI 28-APR-2025
DEFINITION  intermembrane lipid transfer protein VPS13A isoform A [Homo
            sapiens].
ACCESSION   NP_150648
VERSION     NP_150648.2
DBSOURCE    REFSEQ: accession NM_033305.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 3174)
  AUTHORS   Yu,H., Li,L., Li,X. and Liu,H.
  TITLE     Clinical Features and Novel Pathogenic Variants of Chinese Patients
            With McLeod Syndrome and Chorea-Acanthocytosis
  JOURNAL   Mol Genet Genomic Med 12 (9), e70015 (2024)
   PUBMED   39324427
  REMARK    GeneRIF: Clinical Features and Novel Pathogenic Variants of Chinese
            Patients With McLeod Syndrome and Chorea-Acanthocytosis.
REFERENCE   2  (residues 1 to 3174)
  AUTHORS   Ditzel,R.M. Jr., Walker,R.H., Nirenberg,M.J., Tetlow,A.M.,
            Farrell,K., Lind-Watson,K.J., Thorn,E.L., Dangoor,D.K., Gordon,R.,
            De Sanctis,C., Barton,B., Karp,B.I., Kirby,A., Lett,D.J., Mente,K.,
            Simon,D.K., Velayos-Baeza,A., Miltenberger-Miltenyi,G., Humphrey,J.
            and Crary,J.F.
  TITLE     An Autopsy Series of Seven Cases of VPS13A Disease
            (Chorea-Acanthocytosis)
  JOURNAL   Mov Disord 38 (12), 2163-2172 (2023)
   PUBMED   37670483
  REMARK    GeneRIF: An Autopsy Series of Seven Cases of VPS13A Disease
            (Chorea-Acanthocytosis).
REFERENCE   3  (residues 1 to 3174)
  AUTHORS   Alkahtani,S., Alkahtane,A.A., Stournaras,C. and Alarifi,S.
  TITLE     Chorein sensitive microtubule organization in tumor cells
  JOURNAL   PeerJ 11, e16074 (2023)
   PUBMED   37744224
  REMARK    GeneRIF: Chorein sensitive microtubule organization in tumor cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 3174)
  AUTHORS   Chaudhari,S., Ware,A.P., Jasti,D.B., Gorthi,S.P., Acharya,L.P.,
            Bhat,M., Mallya,S. and Satyamoorthy,K.
  TITLE     Exome sequencing of choreoacanthocytosis reveals novel mutations in
            VPS13A and co-mutation in modifier gene(s)
  JOURNAL   Mol Genet Genomics 298 (4), 965-976 (2023)
   PUBMED   37209156
  REMARK    GeneRIF: Exome sequencing of choreoacanthocytosis reveals novel
            mutations in VPS13A and co-mutation in modifier gene(s).
REFERENCE   5  (residues 1 to 3174)
  AUTHORS   Bohlega,S., Al-Jishi,A., Dobson-Stone,C., Rampoldi,L., Saha,P.,
            Murad,H., Kareem,A., Roberts,G. and Monaco,A.P.
  TITLE     Chorea-acanthocytosis: clinical and genetic findings in three
            families from the Arabian peninsula
  JOURNAL   Mov Disord 18 (4), 403-407 (2003)
   PUBMED   12671946
REFERENCE   6  (residues 1 to 3174)
  AUTHORS   Ueno,S., Maruki,Y., Nakamura,M., Tomemori,Y., Kamae,K., Tanabe,H.,
            Yamashita,Y., Matsuda,S., Kaneko,S. and Sano,A.
  TITLE     The gene encoding a newly discovered protein, chorein, is mutated
            in chorea-acanthocytosis
  JOURNAL   Nat Genet 28 (2), 121-122 (2001)
   PUBMED   11381254
REFERENCE   7  (residues 1 to 3174)
  AUTHORS   Rampoldi,L., Dobson-Stone,C., Rubio,J.P., Danek,A., Chalmers,R.M.,
            Wood,N.W., Verellen,C., Ferrer,X., Malandrini,A., Fabrizi,G.M.,
            Brown,R., Vance,J., Pericak-Vance,M., Rudolf,G., Carre,S.,
            Alonso,E., Manfredi,M., Nemeth,A.H. and Monaco,A.P.
  TITLE     A conserved sorting-associated protein is mutant in
            chorea-acanthocytosis
  JOURNAL   Nat Genet 28 (2), 119-120 (2001)
   PUBMED   11381253
REFERENCE   8  (residues 1 to 3174)
  AUTHORS   Rubio,J.P., Danek,A., Stone,C., Chalmers,R., Wood,N., Verellen,C.,
            Ferrer,X., Malandrini,A., Fabrizi,G.M., Manfredi,M., Vance,J.,
            Pericak-Vance,M., Brown,R., Rudolf,G., Picard,F., Alonso,E.,
            Brin,M., Nemeth,A.H., Farrall,M. and Monaco,A.P.
  TITLE     Chorea-acanthocytosis: genetic linkage to chromosome 9q21
  JOURNAL   Am J Hum Genet 61 (4), 899-908 (1997)
   PUBMED   9382101
REFERENCE   9  (residues 1 to 3174)
  AUTHORS   Peikert,K., Dobson-Stone,C., Rampoldi,L., Miltenberger-Miltenyi,G.,
            Neiman,A., De Camilli,P., Hermann,A., Walker,R.H., Monaco,A.P. and
            Danek,A.
  TITLE     VPS13A Disease
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301561
REFERENCE   10 (residues 1 to 3174)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AW303378.1, AF337532.1,
            AB054005.1, AK027023.1 and AL158159.14.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 19, 2005 this sequence version replaced NP_150648.1.
            
            Summary: 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].
            
            Transcript Variant: This variant (A) encodes the longest isoform
            (A).
            
            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 :: AF337532.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000360280.8/ ENSP00000353422.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..3174
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.2"
     Protein         1..3174
                     /product="intermembrane lipid transfer protein VPS13A
                     isoform A"
                     /note="vacuolar protein sorting-associated protein 13A;
                     chorea-acanthocytosis protein; vacuolar protein sorting
                     13A; intermembrane lipid transfer protein VPS13A;
                     bridge-like lipid transfer protein family member 5A"
                     /calculated_mol_wt=360147
     Region          4..>2104
                     /region_name="MRS6"
                     /note="Vacuolar protein sorting-associated protein
                     [Intracellular trafficking and secretion]; COG5043"
                     /db_xref="CDD:227376"
     Region          212..245
                     /region_name="TPR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RL7.2)"
     Region          373..406
                     /region_name="TPR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RL7.2)"
     Region          537..575
                     /region_name="TPR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RL7.2)"
     Site            839
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5H8C4; propagated from
                     UniProtKB/Swiss-Prot (Q96RL7.2)"
     Region          842..848
                     /region_name="FFAT. /evidence=ECO:0000269|PubMed:30741634"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RL7.2)"
     Region          1256..1289
                     /region_name="TPR 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RL7.2)"
     Region          1291..1320
                     /region_name="TPR 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RL7.2)"
     Site            1416
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q96RL7.2)"
     Region          2009..2041
                     /region_name="TPR 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RL7.2)"
     Region          2209..>2356
                     /region_name="SHR-BD"
                     /note="SHR-binding domain of vacuolar-sorting associated
                     protein 13; pfam06650"
                     /db_xref="CDD:461974"
     Region          2568..2601
                     /region_name="TPR 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RL7.2)"
     Region          <2598..3098
                     /region_name="MRS6"
                     /note="Vacuolar protein sorting-associated protein
                     [Intracellular trafficking and secretion]; COG5043"
                     /db_xref="CDD:227376"
     Region          2717..2751
                     /region_name="TPR 8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RL7.2)"
     Region          2751..3174
                     /region_name="Required for mitochondrial localization.
                     /evidence=ECO:0000269|PubMed:30093493,
                     ECO:0000269|PubMed:30741634"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RL7.2)"
     Region          2766..2943
                     /region_name="VPS13_C"
                     /note="Vacuolar-sorting-associated 13 protein C-terminal;
                     pfam16909"
                     /db_xref="CDD:465310"
     Region          2953..3027
                     /region_name="Required for lipid droplet localization.
                     /evidence=ECO:0000269|PubMed:30093493"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RL7.2)"
     CDS             1..3174
                     /gene="VPS13A"
                     /gene_synonym="BLTP5A; CHAC; CHOREIN"
                     /coded_by="NM_033305.3:172..9696"
                     /note="isoform A is encoded by transcript variant A"
                     /db_xref="CCDS:CCDS6655.1"
                     /db_xref="GeneID:23230"
                     /db_xref="HGNC:HGNC:1908"
                     /db_xref="MIM:605978"
ORIGIN      
        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
//
