KEGG   Homo sapiens (human): 23230
Entry
23230             CDS       T01001                                 
Symbol
VPS13A, BLTP5A, CHAC, CHOREIN
Name
(RefSeq) vacuolar protein sorting 13 homolog A
  KO
K19525  vacuolar protein sorting-associated protein 13A/C
Organism
hsa  Homo sapiens (human)
Disease
H00832  Core neuroacanthocytosis syndromes
H01432  Choreoacanthocytosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    23230 (VPS13A)
Membrane trafficking [BR:hsa04131]
 Endosome - Golgi transport
  Rab GTPases and associated proteins
   Rab associated proteins
    23230 (VPS13A)
SSDB
Motif
Pfam: VPS13_mid_rpt VPS13_ext_chorein VPS13_DH-like VPS13_VAB Chorein_N VPS13_C ATG2-VPS13_C
Other DBs
NCBI-GeneID: 23230
NCBI-ProteinID: NP_150648
OMIM: 605978
HGNC: 1908
Ensembl: ENSG00000197969
UniProt: Q96RL7
Position
9:77177534..77421537
AA seq 3174 aa
MVFESVVVDVLNRFLGDYVVDLDTSQLSLGIWKGAVALKNLQIKENALSQLDVPFKVKVG
HIGNLKLIIPWKNLYTQPVEAVLEEIYLLIVPSSRIKYDPLKEEKQLMEAKQQELKRIEE
AKQKVVDQEQHLPEKQDTFAEKLVTQIIKNLQVKISSIHIRYEDDITNRDKPLSFGISLQ
NLSMQTTDQYWVPCLHDETEKLVRKLIRLDNLFAYWNVKSQMFYLSDYDNSLDDLKNGIV
NENIVPEGYDFVFRPISANAKLVMNRRSDFDFSAPKINLEIELHNIAIEFNKPQYFSIME
LLESVDMMAQNLPYRKFKPDVPLHHHAREWWAYAIHGVLEVNVCPRLWMWSWKHIRKHRQ
KVKQYKELYKKKLTSKKPPGELLVSLEELEKTLDVFNITIARQTAEVEVKKAGYKIYKEG
VKDPEDNKGWFSWLWSWSEQNTNEQQPDVQPETLEEMLTPEEKALLYEAIGYSETAVDPT
LLKTFEALKFFVHLKSMSIVLRENHQKPELVDIVIEEFSTLIVQRPGAQAIKFETKIDSF
HITGLPDNSEKPRLLSSLDDAMSLFQITFEINPLDETVSQRCIIEAEPLEIIYDARTVNS
IVEFFRPPKEVHLAQLTAATLTKLEEFRSKTATGLLYIIETQKVLDLKINLKASYIIVPQ
DGIFSPTSNLLLLDLGHLKVTSKSRSELPDVKQGEANLKEIMDRAYDSFDIQLTSVQLLY
SRVGDNWREARKLSVSTQHILVPMHFNLELSKAMVFMDVRMPKFKIYGKLPLISLRISDK
KLQGIMELIESIPKPEPVTEVSAPVKSFQIQTSTSLGTSQISQKIIPLLELPSVSEDDSE
EEFFDAPCSPLEEPLQFPTGVKSIRTRKLQKQDCSVNMTTFKIRFEVPKVLIEFYHLVGD
CELSVVEILVLGLGAEIEIRTYDLKANAFLKEFCLKCPEYLDENKKPVYLVTTLDNTMED
LLTLEYVKAEKNVPDLKSTYNNVLQLIKVNFSSLDIHLHTEALLNTINYLHNILPQSEEK
SAPVSTTETEDKGDVIKKLALKLSTNEDIITLQILAELSCLQIFIQDQKCNISEIKIEGL
DSEMIMRPSETEINAKLRNIIVLDSDITAIYKKAVYITGKEVFSFKMVSYMDATAGSAYT
DMNVVDIQVNLIVGCIEVVFVTKFLYSILAFIDNFQAAKQALAEATVQAAGMAATGVKEL
AQRSSRMALDINIKAPVVVIPQSPVSENVFVADFGLITMTNTFHMITESQSSPPPVIDLI
TIKLSEMRLYRSRFINDAYQEVLDLLLPLNLEVVVERNLCWEWYQEVPCFNVNAQLKPME
FILSQEDITTIFKTLHGNIWYEKDGSASPAVTKDQYSATSGVTTNASHHSGGATVVTAAV
VEVHSRALLVKTTLNISFKTDDLTMVLYSPGPKQASFTDVRDPSLKLAEFKLENIISTLK
MYTDGSTFSSFSLKNCILDDKRPHVKKATPRMIGLTVGFDKKDMMDIKYRKVRDGCVTDA
VFQEMYICASVEFLQTVANVFLEAYTTGTAVETSVQTWTAKEEVPTQESVKWEINVIIKN
PEIVFVADMTKNDAPALVITTQCEICYKGNLENSTMTAAIKDLQVRACPFLPVKRKGKIT
TVLQPCDLFYQTTQKGTDPQVIDMSVKSLTLKVSPVIINTMITITSALYTTKETIPEETA
SSTAHLWEKKDTKTLKMWFLEESNETEKIAPTTELVPKGEMIKMNIDSIFIVLEAGIGHR
TVPMLLAKSRFSGEGKNWSSLINLHCQLELEVHYYNEMFGVWEPLLEPLEIDQTEDFRPW
NLGIKMKKKAKMAIVESDPEEENYKVPEYKTVISFHSKDQLNITLSKCGLVMLNNLVKAF
TEAATGSSADFVKDLAPFMILNSLGLTISVSPSDSFSVLNIPMAKSYVLKNGESLSMDYI
RTKDNDHFNAMTSLSSKLFFILLTPVNHSTADKIPLTKVGRRLYTVRHRESGVERSIVCQ
IDTVEGSKKVTIRSPVQIRNHFSVPLSVYEGDTLLGTASPENEFNIPLGSYRSFIFLKPE
DENYQMCEGIDFEEIIKNDGALLKKKCRSKNPSKESFLINIVPEKDNLTSLSVYSEDGWD
LPYIMHLWPPILLRNLLPYKIAYYIEGIENSVFTLSEGHSAQICTAQLGKARLHLKLLDY
LNHDWKSEYHIKPNQQDISFVSFTCVTEMEKTDLDIAVHMTYNTGQTVVAFHSPYWMVNK
TGRMLQYKADGIHRKHPPNYKKPVLFSFQPNHFFNNNKVQLMVTDSELSNQFSIDTVGSH
GAVKCKGLKMDYQVGVTIDLSSFNITRIVTFTPFYMIKNKSKYHISVAEEGNDKWLSLDL
EQCIPFWPEYASSKLLIQVERSEDPPKRIYFNKQENCILLRLDNELGGIIAEVNLAEHST
VITFLDYHDGAATFLLINHTKNELVQYNQSSLSEIEDSLPPGKAVFYTWADPVGSRRLKW
RCRKSHGEVTQKDDMMMPIDLGEKTIYLVSFFEGLQRIILFTEDPRVFKVTYESEKAELA
EQEIAVALQDVGISLVNNYTKQEVAYIGITSSDVVWETKPKKKARWKPMSVKHTEKLERE
FKEYTESSPSEDKVIQLDTNVPVRLTPTGHNMKILQPHVIALRRNYLPALKVEYNTSAHQ
SSFRIQIYRIQIQNQIHGAVFPFVFYPVKPPKSVTMDSAPKPFTDVSIVMRSAGHSQISR
IKYFKVLIQEMDLRLDLGFIYALTDLMTEAEVTENTEVELFHKDIEAFKEEYKTASLVDQ
SQVSLYEYFHISPIKLHLSVSLSSGREEAKDSKQNGGLIPVHSLNLLLKSIGATLTDVQD
VVFKLAFFELNYQFHTTSDLQSEVIRHYSKQAIKQMYVLILGLDVLGNPFGLIREFSEGV
EAFFYEPYQGAIQGPEEFVEGMALGLKALVGGAVGGLAGAASKITGAMAKGVAAMTMDED
YQQKRREAMNKQPAGFREGITRGGKGLVSGFVSGITGIVTKPIKGAQKGGAAGFFKGVGK
GLVGAVARPTGGIIDMASSTFQGIKRATETSEVESLRPPRFFNEDGVIRPYRLRDGTGNQ
MLQVMENGRFAKYKYFTHVMINKTDMLMITRRGVLFVTKGTFGQLTCEWQYSFDEFTKEP
FIVHGRRLRIEAKERVKSVFHAREFGKIINFKTPEDARWILTKLQEAREPSPSL
NT seq 9525 nt   +upstreamnt  +downstreamnt
atggttttcgagtcggtggtcgtggacgtgttgaaccggttcttgggggactatgtggtg
gacttggacacgtcccagctctctctgggcatctggaaaggagctgtggccctcaagaat
cttcaaattaaagaaaatgccctgagtcaactggatgtaccatttaaagttaaagttggt
cacataggtaatcttaaacttataattccatggaaaaacctttatactcaacctgttgaa
gccgtattggaagaaatttatttacttatagtgccttcttctagaataaaatatgatcct
ttaaaagaagagaaacaactcatggaagcaaagcaacaggaactgaaaagaatagaagaa
gcaaaacaaaaagtagttgatcaagaacaacatctgccggaaaaacaggacacttttgca
gaaaaattagttacacagatcataaaaaatcttcaggtgaaaatttccagtatccatatt
cgttatgaagatgatatcacaaatcgggacaaaccgctgtcatttggtatttcccttcaa
aatctgagcatgcagacaactgatcaatactgggttccatgtttacatgatgaaactgag
aaactggttcgtaagttaatccgattggataacctgtttgcctattggaatgtgaagtct
cagatgttttatcttagtgattatgataactccttggacgacttgaagaatggcattgtc
aatgaaaatattgttccagaaggttatgattttgtatttcgtcccatatctgctaatgcc
aaacttgtgatgaatcgccgatctgattttgacttttctgcccccaaaataaacttggaa
attgagttacataacatagcaattgaatttaataaaccacagtatttcagtattatggag
cttcttgaatcagttgatatgatggcacaaaatctgccatataggaagttcaaacctgat
gtgcctcttcaccaccatgccagagaatggtgggcttatgctatacatggcgttcttgaa
gtaaatgtttgccccaggttatggatgtggtcatggaagcatattagaaaacataggcaa
aaagtgaagcaatataaagaactgtataaaaaaaagttaacaagtaagaagccacctggt
gaacttctcgtgtctttggaggagttggaaaaaaccttggatgtctttaatataactata
gctagacagacggcagaagttgaggtaaagaaagctggatacaaaatttacaaagaagga
gtaaaagatccagaggataataaagggtggtttagctggctatggtcttggtcagaacaa
aatactaatgaacagcaaccagatgttcaacctgaaactcttgaagaaatgttgacacct
gaagaaaaagctttactctatgaagcaattggctatagtgaaacagcagttgatccaact
ttactaaaaacatttgaagccttgaagttttttgtccacttgaaaagtatgtctattgtt
ctaagagaaaatcatcaaaaacctgagctggtagatattgtaatagaagaatttagcacc
ttaattgtgcaaagaccaggagcacaagcaataaaatttgaaactaaaatagattcattt
catattactggcttaccagataattcagaaaaaccccgcctcctgtcttcattggatgat
gcaatgtcacttttccaaattacatttgagataaatccattagatgaaactgtttctcag
aggtgtatcatagaagctgaacctttagaaatcatatatgatgcaaggacagtgaatagt
atagtggaattcttcagacctccaaaagaggtacatctagcacagctcactgcagcaact
ttgacaaaactggaagaatttcgcagtaagacagcaacaggtctactgtatattattgaa
acacagaaagttcttgatctcaaaattaatttgaaggcttcatatattattgtcccacaa
gatggaatttttagtcctacatcaaatctgcttcttttggaccttggtcatctaaaggtg
acgagtaaaagtcgttctgaattaccagatgtgaaacaaggtgaggccaatcttaaagag
ataatggatagagcttatgattcatttgatattcaacttacaagtgtacagctgctttac
agtagagttggtgataattggagagaagcacgaaaactcagtgtatctacccagcatatt
ttggtacccatgcacttcaatttggaactgtctaaggccatggttttcatggatgtaagg
atgcccaaattcaagatttatggaaagttacctcttatttctttacgaatctcagataaa
aaactacaagggattatggaattgattgaaagcattccaaaacctgaaccagtaactgaa
gtatctgcccctgtcaaatcattccagattcaaacatctacttctttgggaacatcacag
atttcacagaaaataattcctctcttggaacttccatctgtttctgaagatgattcagag
gaggaattttttgatgcaccatgtagtcccttggaagaacctcttcagtttccaactgga
gttaaaagtattcgaaccagaaagttacaaaagcaggattgttcagtaaatatgactaca
tttaaaataagatttgaagtaccaaaggttttgatcgagttttatcaccttgttggagat
tgtgaactatctgtggtagaaattcttgttttaggattgggtgcagaaattgagattaga
acatacgatttgaaagcaaatgcctttttgaaagagttctgcttaaaatgcccagaatac
ttggatgaaaacaagaaaccagtttatttggttacaaccctggataacacaatggaagac
ctgttaacgctggaatatgtaaaggctgaaaagaatgtacccgacttgaaaagtacctat
aacaatgttttacaattgattaaggtaaatttttcctctttggatattcatttacacact
gaagcacttctgaatacaataaattatcttcataatatccttccgcaatcagaggaaaaa
tcagccccagtgtccactacagagactgaagacaaaggagatgtcattaaaaaattagct
ttaaaactatccacaaatgaagatatcattactttgcagattttagcagaattatcgtgt
ttacagatctttattcaagatcagaaatgtaacatttctgaaattaagattgaagggctt
gattctgagatgattatgaggccttcagaaactgaaataaacgcaaagctaaggaatata
attgttttagattctgatataacagctatatacaaaaaggctgtttatatcactggaaaa
gaagttttcagcttcaaaatggtttcttacatggatgcaactgctggttctgcatacaca
gatatgaatgtggttgacattcaggttaatttaatagttggttgcattgaagtagttttt
gtcacgaaatttctatattctatattggcttttatagataattttcaggcagctaaacaa
gccttggctgaggcaactgttcaggcagctggaatggctgctactggtgtaaaagaactc
gcacaaaggagttccagaatggcactggatattaacatcaaagccccagttgtggtcatc
ccgcagtctccagtttctgaaaatgtttttgttgctgattttggactaattacaatgaca
aatacctttcatatgataacagagagccagagctctcccccacctgttattgatttgata
acaataaagctgagtgaaatgcgactatacagatctcgatttattaatgatgcataccag
gaagtactggatctactcctgccattaaatcttgaggttgtggttgaacgaaatttatgc
tgggagtggtaccaggaagttccttgttttaatgtaaatgctcagctgaaaccaatggag
ttcattcttagtcaagaagatataacaactatttttaaaacattgcatggcaatatatgg
tatgaaaaagatggtagtgcctcacctgctgtaacaaaagaccaatacagtgccactagt
ggagttactactaatgcttcacaccattcaggaggagcaactgtggtgacagctgctgtg
gtagaagtacattcacgtgccttactagttaagacaacactaaacataagcttcaaaact
gatgatctcaccatggtgctgtatagtccaggtcctaaacaggcttcctttacagatgtt
cgtgatccttctctgaaacttgctgaatttaaattggagaatattataagtactttaaaa
atgtatacagatggctcaacattttcttccttctcattaaaaaactgtattttagatgat
aaaagacctcatgtcaagaaagcaactcctcgaatgataggactgacagttggttttgac
aaaaaagacatgatggatataaagtacaggaaagtcagagatggttgtgtgactgatgcg
gtctttcaagaaatgtatatttgtgcaagcgtagaatttctgcagactgttgcaaatgtc
tttcttgaggcctacaccacaggcactgctgtagaaaccagtgtgcaaacatggactgct
aaggaagaagtacctacacaggaatcagtgaagtgggaaattaatgttattattaaaaat
cctgaaattgtgtttgtagctgacatgacaaaaaatgatgctcctgctttagtcattaca
acacaatgtgaaatttgctataaaggtaaccttgaaaatagtacaatgactgctgccatt
aaagatctccaagtgagagcctgcccgtttcttccagtcaagagaaaaggcaaaatcact
actgttttgcagccctgtgacttgttttatcaaactactcagaaaggtacagatccacaa
gtgatcgatatgtcagtaaaatccctgacactaaaggtttcaccagttattataaatact
atgattaccataacttcagcactgtatacaactaaggaaaccatcccagaagaaacggct
tcttctactgcacatttatgggaaaagaaggatacaaagactttaaaaatgtggtttctt
gaagaatcaaatgaaactgaaaaaatagctcccacaactgaattggtacccaaaggcgag
atgataaaaatgaacattgattctatttttatagttcttgaggctggaattggtcataga
acagtacctatgcttctggcaaagtcacgtttttcaggggaaggcaaaaactggagttcc
ctaataaatctgcactgtcagcttgagctagaagtgcattattataatgaaatgtttggt
gtatgggagcctttgcttgaacccttagaaattgatcagactgaggattttagaccatgg
aatcttggtatcaagatgaaaaagaaagcaaaaatggccattgttgagtcagatcctgaa
gaagaaaactacaaagtgccagaatataaaactgtcatcagtttccattcaaaagaccaa
ttaaacattacattatccaaatgtggtcttgtaatgttaaacaatttagtcaaggcattt
acagaagctgccactggatcttcagctgacttcgtaaaggatctagcaccatttatgatt
ttaaattcccttggacttactatttctgtttcgccaagtgattcttttagtgtactcaac
attcctatggcaaaatcatatgtattgaaaaatggagaaagtttaagtatggattatatc
cgaaccaaggacaatgatcatttcaatgcaatgaccagcctaagcagcaaactcttcttc
attcttcttacacctgttaaccattctactgctgataagattcctttaacaaaagtggga
cgacgtctgtacactgtaagacacagagagtctggcgttgaaagatctattgtttgtcaa
attgatacagtagaaggaagtaagaaggtcacaattcgctccccagtgcagataagaaat
catttttcagtcccactgtctgtttacgaaggggataccttattgggaactgcctcacct
gaaaatgaattcaacataccattaggatcttaccgatcattcatttttctgaagccagaa
gatgagaactatcaaatgtgtgaaggaattgactttgaagagattataaaaaatgatggt
gctcttctaaagaagaaatgtagatctaaaaacccttctaaggaatcatttctcattaat
attgttccagaaaaagataatttaacatctctatcagtgtattcagaagatggttgggat
ttaccatacataatgcatttgtggccacctatcctgctccgaaatcttcttccttacaaa
attgcttattatatagagggaattgaaaattcggtttttactctaagtgaaggacattca
gcccagatttgtactgcacagttgggtaaagccaggctacatttaaaattacttgactat
ctcaatcacgattggaaaagtgaatatcacataaagcctaatcagcaagacattagtttt
gtcagttttacttgtgttacagaaatggaaaagactgatttagatattgctgtccatatg
acttacaatactggtcagacagttgtggcatttcatagtccttattggatggtcaataaa
actggccgcatgttacagtacaaagcagacggaattcatcgaaagcatccacctaattat
aaaaagccagttctcttttcttttcagccaaatcacttttttaataacaataaggttcaa
cttatggtaactgatagtgagttgtccaatcagttttcaattgatactgttggtagtcat
ggagctgttaaatgtaaaggcctgaaaatggactatcaagttggtgtcactatagacctg
agcagttttaacattactagaattgtgacatttacccctttttatatgattaaaaacaaa
agcaaataccatatatcagtggctgaagaaggaaatgataaatggctctctcttgatttg
gagcagtgtatccccttttggcctgagtatgcttctagtaaacttcttattcaagtcgaa
aggagtgaagatcctcccaaaaggatatattttaacaagcaggaaaattgtattctattg
cgtctagataacgagcttggaggtattatagcagaagtgaatttggccgagcattctaca
gttattacatttttagattatcatgatggagcagctacattcctcttaataaatcacaca
aagaatgaacttgttcaatacaatcaaagttctctcagtgaaatagaagattccctccct
cctggtaaagccgtgttttatacatgggctgatccggtgggctctagaaggctgaagtgg
agatgtagaaaaagccatggtgaagtaacacagaaggatgatatgatgatgcctatagat
ttgggggaaaagacaatatatttagtttcattctttgaaggtttacaacgcattatttta
ttcactgaagatccaagggtatttaaagtaacatatgaaagtgagaaagcagagttagca
gagcaagaaattgcagtggcattacaagatgttggaatttctcttgtcaacaattacacg
aagcaagaagtagcctatataggcattacaagttctgatgtggtttgggaaacaaagccc
aagaagaaggcaagatggaagccaatgagtgtaaagcacactgagaagttagagagagaa
tttaaggaatatactgaatcttctccttcagaagataaggttattcagttggacactaat
gttccggttcgcctaacccctactggtcataacatgaaaattctgcagccgcatgtaata
gctctacgaagaaattatcttccagcattaaaagtggaatataacacatctgcacatcaa
tcatcatttagaattcagatttacagaatacagatccaaaatcagatacatggtgctgta
tttccctttgtgttttatcctgttaaacctccaaagtcggtcaccatggattcagcacca
aagccctttacagatgtcagtattgtcatgagatctgcaggacattcccagatatcacgt
attaagtatttcaaagtattgattcaagaaatggatctcaggttagatcttgggtttatc
tatgctttaacagaccttatgacagaagctgaggtgactgaaaatacagaggttgagctt
tttcataaagatatagaagctttcaaagaagaatataaaacagcctcattagtagatcaa
tcacaagtcagcctctatgaatattttcatatatctcctatcaagttacatttaagtgtt
tcactgagttccggcagagaagaagctaaagattcaaaacaaaatggaggactgattcca
gttcattctttaaatcttttgctgaagagtattggtgccacactgacagatgtacaagat
gtagtttttaagcttgcattttttgaactcaactatcagttccatacaacatccgatcta
cagtctgaagtcataagacactattcaaaacaggccattaagcagatgtatgtactcatt
cttggacttgatgttttgggaaatccatttggcttaattagagaattttctgaaggtgta
gaagcatttttttatgaaccttaccagggagccatccagggtcctgaagagtttgtggaa
ggaatggcactaggacttaaggcactagttggtggagctgttggtggattggctggtgct
gcctccaaaatcaccggtgctatggctaagggggtagcagctatgaccatggatgaagac
taccaacagaagagaagagaagccatgaataagcaaccagctggttttagagaaggcatc
actcgtggaggaaaaggcttagtttctggatttgttagtggcataacaggaattgttaca
aaaccaatcaaaggagctcaaaaaggaggagcagctggtttctttaaaggtgttgggaaa
ggtttagtaggagcggtagcaaggccaactggaggcatcatagacatggctagcagtaca
tttcagggaataaaaagagctacagagacttctgaagtggagagtctgcgacctcctcgg
ttcttcaatgaagatggagttatcagaccgtacaggttgagggatgggactggaaatcaa
atgttacaggtcatggaaaatggaagatttgcaaaatacaaatattttacccatgtcatg
atcaataagacagatatgctaatgataaccagacgtggtgtattgtttgtaacaaaggga
acatttggacaactcacgtgtgagtggcagtatagttttgatgaatttaccaaagagcca
ttcattgttcatgggagaagattgcgcattgaagcaaaggaacgagtgaagtctgtattt
catgccagagagtttggaaaaataattaacttcaagaccccagaggatgccaggtggatc
ctcacaaagctacaagaagcaagagaaccttctccgagcctctga

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Ontology (2)   
   KEGG BRITE (2)   
Disease (4)   
   KEGG DISEASE (2)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (34)   
   KEGG ORTHOLOGY (1)   
   RefGene (24)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (6)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (46)   
   RefSeq(nuc) (4)   
   GenBank (21)   
   EMBL (21)   
Protein domain (7)   
   Pfam (7)   
All databases (100)   

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