KEGG   Homo sapiens (human): 23230Help
Entry
23230             CDS       T01001                                 

Gene name
VPS13A, CHAC, CHOREIN
Definition
vacuolar protein sorting 13 homolog A (S. cerevisiae)
Organism
hsa  Homo sapiens (human)
Disease
H00832  
Core neuroacanthocytosis syndromes
Class
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
9q21
AA seq 3135 aa AA seqDB search
MVFESVVVDVLNRFLGDYVVDLDTSQLSLGIWKGAVALKNLQIKENALSQLDVPFKVKVG
HIGNLKLIIPWKNLYTQPVEAVLEEIYLLIVPSSRIKYDPLKEEKQLMEAKQQELKRIEE
AKQKVVDQEQHLPEKQDTFAEKLVTQIIKNLQVKISSIHIRYEDDITNRDKPLSFGISLQ
NLSMQTTDQYWVPCLHDETEKLVRKLIRLDNLFAYWNVKSQMFYLSDYDNSLDDLKNGIV
NENIVPEGYDFVFRPISANAKLVMNRRSDFDFSAPKINLEIELHNIAIEFNKPQYFSIME
LLESVDMMAQNLPYRKFKPDVPLHHHAREWWAYAIHGVLEVNVCPRLWMWSWKHIRKHRQ
KVKQYKELYKKKLTSKKPPGELLVSLEELEKTLDVFNITIARQTAEVEVKKAGYKIYKEG
VKDPEDNKGWFSWLWSWSEQNTNEQQPDVQPETLEEMLTPEEKALLYEAIGYSETAVDPT
LLKTFEALKFFVHLKSMSIVLRENHQKPELVDIVIEEFSTLIVQRPGAQAIKFETKIDSF
HITGLPDNSEKPRLLSSLDDAMSLFQITFEINPLDETVSQRCIIEAEPLEIIYDARTVNS
IVEFFRPPKEVHLAQLTAATLTKLEEFRSKTATGLLYIIETQKVLDLKINLKASYIIVPQ
DGIFSPTSNLLLLDLGHLKVTSKSRSELPDVKQGEANLKEIMDRAYDSFDIQLTSVQLLY
SRVGDNWREARKLSVSTQHILVPMHFNLELSKAMVFMDVRMPKFKIYGKLPLISLRISDK
KLQGIMELIESIPKPEPVTEVSAPVKSFQIQTSTSLGTSQISQKIIPLLELPSVSEDDSE
EEFFDAPCSPLEEPLQFPTGVKSIRTRKLQKQDCSVNMTTFKIRFEVPKVLIEFYHLVGD
CELSVVEILVLGLGAEIEIRTYDLKANAFLKEFCLKCPEYLDENKKPVYLVTTLDNTMED
LLTLEYVKAEKNVPDLKSTYNNVLQLIKVNFSSLDIHLHTEALLNTINYLHNILPQSEEK
SAPVSTTETEDKGDVIKKLGLDSEMIMRPSETEINAKLRNIIVLDSDITAIYKKAVYITG
KEVFSFKMVSYMDATAGSAYTDMNVVDIQVNLIVGCIEVVFVTKFLYSILAFIDNFQAAK
QALAEATVQAAGMAATGVKELAQRSSRMALDINIKAPVVVIPQSPVSENVFVADFGLITM
TNTFHMITESQSSPPPVIDLITIKLSEMRLYRSRFINDAYQEVLDLLLPLNLEVVVERNL
CWEWYQEVPCFNVNAQLKPMEFILSQEDITTIFKTLHGNIWYEKDGSASPAVTKDQYSAT
SGVTTNASHHSGGATVVTAAVVEVHSRALLVKTTLNISFKTDDLTMVLYSPGPKQASFTD
VRDPSLKLAEFKLENIISTLKMYTDGSTFSSFSLKNCILDDKRPHVKKATPRMIGLTVGF
DKKDMMDIKYRKVRDGCVTDAVFQEMYICASVEFLQTVANVFLEAYTTGTAVETSVQTWT
AKEEVPTQESVKWEINVIIKNPEIVFVADMTKNDAPALVITTQCEICYKGNLENSTMTAA
IKDLQVRACPFLPVKRKGKITTVLQPCDLFYQTTQKGTDPQVIDMSVKSLTLKVSPVIIN
TMITITSALYTTKETIPEETASSTAHLWEKKDTKTLKMWFLEESNETEKIAPTTELVPKG
EMIKMNIDSIFIVLEAGIGHRTVPMLLAKSRFSGEGKNWSSLINLHCQLELEVHYYNEMF
GVWEPLLEPLEIDQTEDFRPWNLGIKMKKKAKMAIVESDPEEENYKVPEYKTVISFHSKD
QLNITLSKCGLVMLNNLVKAFTEAATGSSADFVKDLAPFMILNSLGLTISVSPSDSFSVL
NIPMAKSYVLKNGESLSMDYIRTKDNDHFNAMTSLSSKLFFILLTPVNHSTADKIPLTKV
GRRLYTVRHRESGVERSIVCQIDTVEGSKKVTIRSPVQIRNHFSVPLSVYEGDTLLGTAS
PENEFNIPLGSYRSFIFLKPEDENYQMCEGIDFEEIIKNDGALLKKKCRSKNPSKESFLI
NIVPEKDNLTSLSVYSEDGWDLPYIMHLWPPILLRNLLPYKIAYYIEGIENSVFTLSEGH
SAQICTAQLGKARLHLKLLDYLNHDWKSEYHIKPNQQDISFVSFTCVTEMEKTDLDIAVH
MTYNTGQTVVAFHSPYWMVNKTGRMLQYKADGIHRKHPPNYKKPVLFSFQPNHFFNNNKV
QLMVTDSELSNQFSIDTVGSHGAVKCKGLKMDYQVGVTIDLSSFNITRIVTFTPFYMIKN
KSKYHISVAEEGNDKWLSLDLEQCIPFWPEYASSKLLIQVERSEDPPKRIYFNKQENCIL
LRLDNELGGIIAEVNLAEHSTVITFLDYHDGAATFLLINHTKNELVQYNQSSLSEIEDSL
PPGKAVFYTWADPVGSRRLKWRCRKSHGEVTQKDDMMMPIDLGEKTIYLVSFFEGLQRII
LFTEDPRVFKVTYESEKAELAEQEIAVALQDVGISLVNNYTKQEVAYIGITSSDVVWETK
PKKKARWKPMSVKHTEKLEREFKEYTESSPSEDKVIQLDTNVPVRLTPTGHNMKILQPHV
IALRRNYLPALKVEYNTSAHQSSFRIQIYRIQIQNQIHGAVFPFVFYPVKPPKSVTMDSA
PKPFTDVSIVMRSAGHSQISRIKYFKVLIQEMDLRLDLGFIYALTDLMTEAEVTENTEVE
LFHKDIEAFKEEYKTASLVDQSQVSLYEYFHISPIKLHLSVSLSSGREEAKDSKQNGGLI
PVHSLNLLLKSIGATLTDVQDVVFKLAFFELNYQFHTTSDLQSEVIRHYSKQAIKQMYVL
ILGLDVLGNPFGLIREFSEGVEAFFYEPYQGAIQGPEEFVEGMALGLKALVGGAVGGLAG
AASKITGAMAKGVAAMTMDEDYQQKRREAMNKQPAGFREGITRGGKGLVSGFVSGITGIV
TKPIKGAQKGGAAGFFKGVGKGLVGAVARPTGGIIDMASSTFQGIKRATETSEVESLRPP
RFFNEDGVIRPYRLRDGTGNQMLQVMENGRFAKYKYFTHVMINKTDMLMITRRGVLFVTK
GTFGQLTCEWQYSFDEFTKEPFIVHGRRLRIEAKERVKSVFHAREFGKIINFKTPEDARW
ILTKLQEAREPSPSL
NT seq 9408 nt NT seq  +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
tcagccccagtgtccactacagagactgaagacaaaggagatgtcattaaaaaattaggg
cttgattctgagatgattatgaggccttcagaaactgaaataaacgcaaagctaaggaat
ataattgttttagattctgatataacagctatatacaaaaaggctgtttatatcactgga
aaagaagttttcagcttcaaaatggtttcttacatggatgcaactgctggttctgcatac
acagatatgaatgtggttgacattcaggttaatttaatagttggttgcattgaagtagtt
tttgtcacgaaatttctatattctatattggcttttatagataattttcaggcagctaaa
caagccttggctgaggcaactgttcaggcagctggaatggctgctactggtgtaaaagaa
ctcgcacaaaggagttccagaatggcactggatattaacatcaaagccccagttgtggtc
atcccgcagtctccagtttctgaaaatgtttttgttgctgattttggactaattacaatg
acaaatacctttcatatgataacagagagccagagctctcccccacctgttattgatttg
ataacaataaagctgagtgaaatgcgactatacagatctcgatttattaatgatgcatac
caggaagtactggatctactcctgccattaaatcttgaggttgtggttgaacgaaattta
tgctgggagtggtaccaggaagttccttgttttaatgtaaatgctcagctgaaaccaatg
gagttcattcttagtcaagaagatataacaactatttttaaaacattgcatggcaatata
tggtatgaaaaagatggtagtgcctcacctgctgtaacaaaagaccaatacagtgccact
agtggagttactactaatgcttcacaccattcaggaggagcaactgtggtgacagctgct
gtggtagaagtacattcacgtgccttactagttaagacaacactaaacataagcttcaaa
actgatgatctcaccatggtgctgtatagtccaggtcctaaacaggcttcctttacagat
gttcgtgatccttctctgaaacttgctgaatttaaattggagaatattataagtacttta
aaaatgtatacagatggctcaacattttcttccttctcattaaaaaactgtattttagat
gataaaagacctcatgtcaagaaagcaactcctcgaatgataggactgacagttggtttt
gacaaaaaagacatgatggatataaagtacaggaaagtcagagatggttgtgtgactgat
gcggtctttcaagaaatgtatatttgtgcaagcgtagaatttctgcagactgttgcaaat
gtctttcttgaggcctacaccacaggcactgctgtagaaaccagtgtgcaaacatggact
gctaaggaagaagtacctacacaggaatcagtgaagtgggaaattaatgttattattaaa
aatcctgaaattgtgtttgtagctgacatgacaaaaaatgatgctcctgctttagtcatt
acaacacaatgtgaaatttgctataaaggtaaccttgaaaatagtacaatgactgctgcc
attaaagatctccaagtgagagcctgcccgtttcttccagtcaagagaaaaggcaaaatc
actactgttttgcagccctgtgacttgttttatcaaactactcagaaaggtacagatcca
caagtgatcgatatgtcagtaaaatccctgacactaaaggtttcaccagttattataaat
actatgattaccataacttcagcactgtatacaactaaggaaaccatcccagaagaaacg
gcttcttctactgcacatttatgggaaaagaaggatacaaagactttaaaaatgtggttt
cttgaagaatcaaatgaaactgaaaaaatagctcccacaactgaattggtacccaaaggc
gagatgataaaaatgaacattgattctatttttatagttcttgaggctggaattggtcat
agaacagtacctatgcttctggcaaagtcacgtttttcaggggaaggcaaaaactggagt
tccctaataaatctgcactgtcagcttgagctagaagtgcattattataatgaaatgttt
ggtgtatgggagcctttgcttgaacccttagaaattgatcagactgaggattttagacca
tggaatcttggtatcaagatgaaaaagaaagcaaaaatggccattgttgagtcagatcct
gaagaagaaaactacaaagtgccagaatataaaactgtcatcagtttccattcaaaagac
caattaaacattacattatccaaatgtggtcttgtaatgttaaacaatttagtcaaggca
tttacagaagctgccactggatcttcagctgacttcgtaaaggatctagcaccatttatg
attttaaattcccttggacttactatttctgtttcgccaagtgattcttttagtgtactc
aacattcctatggcaaaatcatatgtattgaaaaatggagaaagtttaagtatggattat
atccgaaccaaggacaatgatcatttcaatgcaatgaccagcctaagcagcaaactcttc
ttcattcttcttacacctgttaaccattctactgctgataagattcctttaacaaaagtg
ggacgacgtctgtacactgtaagacacagagagtctggcgttgaaagatctattgtttgt
caaattgatacagtagaaggaagtaagaaggtcacaattcgctccccagtgcagataaga
aatcatttttcagtcccactgtctgtttacgaaggggataccttattgggaactgcctca
cctgaaaatgaattcaacataccattaggatcttaccgatcattcatttttctgaagcca
gaagatgagaactatcaaatgtgtgaaggaattgactttgaagagattataaaaaatgat
ggtgctcttctaaagaagaaatgtagatctaaaaacccttctaaggaatcatttctcatt
aatattgttccagaaaaagataatttaacatctctatcagtgtattcagaagatggttgg
gatttaccatacataatgcatttgtggccacctatcctgctccgaaatcttcttccttac
aaaattgcttattatatagagggaattgaaaattcggtttttactctaagtgaaggacat
tcagcccagatttgtactgcacagttgggtaaagccaggctacatttaaaattacttgac
tatctcaatcacgattggaaaagtgaatatcacataaagcctaatcagcaagacattagt
tttgtcagttttacttgtgttacagaaatggaaaagactgatttagatattgctgtccat
atgacttacaatactggtcagacagttgtggcatttcatagtccttattggatggtcaat
aaaactggccgcatgttacagtacaaagcagacggaattcatcgaaagcatccacctaat
tataaaaagccagttctcttttcttttcagccaaatcacttttttaataacaataaggtt
caacttatggtaactgatagtgagttgtccaatcagttttcaattgatactgttggtagt
catggagctgttaaatgtaaaggcctgaaaatggactatcaagttggtgtcactatagac
ctgagcagttttaacattactagaattgtgacatttacccctttttatatgattaaaaac
aaaagcaaataccatatatcagtggctgaagaaggaaatgataaatggctctctcttgat
ttggagcagtgtatccccttttggcctgagtatgcttctagtaaacttcttattcaagtc
gaaaggagtgaagatcctcccaaaaggatatattttaacaagcaggaaaattgtattcta
ttgcgtctagataacgagcttggaggtattatagcagaagtgaatttggccgagcattct
acagttattacatttttagattatcatgatggagcagctacattcctcttaataaatcac
acaaagaatgaacttgttcaatacaatcaaagttctctcagtgaaatagaagattccctc
cctcctggtaaagccgtgttttatacatgggctgatccggtgggctctagaaggctgaag
tggagatgtagaaaaagccatggtgaagtaacacagaaggatgatatgatgatgcctata
gatttgggggaaaagacaatatatttagtttcattctttgaaggtttacaacgcattatt
ttattcactgaagatccaagggtatttaaagtaacatatgaaagtgagaaagcagagtta
gcagagcaagaaattgcagtggcattacaagatgttggaatttctcttgtcaacaattac
acgaagcaagaagtagcctatataggcattacaagttctgatgtggtttgggaaacaaag
cccaagaagaaggcaagatggaagccaatgagtgtaaagcacactgagaagttagagaga
gaatttaaggaatatactgaatcttctccttcagaagataaggttattcagttggacact
aatgttccggttcgcctaacccctactggtcataacatgaaaattctgcagccgcatgta
atagctctacgaagaaattatcttccagcattaaaagtggaatataacacatctgcacat
caatcatcatttagaattcagatttacagaatacagatccaaaatcagatacatggtgct
gtatttccctttgtgttttatcctgttaaacctccaaagtcggtcaccatggattcagca
ccaaagccctttacagatgtcagtattgtcatgagatctgcaggacattcccagatatca
cgtattaagtatttcaaagtattgattcaagaaatggatctcaggttagatcttgggttt
atctatgctttaacagaccttatgacagaagctgaggtgactgaaaatacagaggttgag
ctttttcataaagatatagaagctttcaaagaagaatataaaacagcctcattagtagat
caatcacaagtcagcctctatgaatattttcatatatctcctatcaagttacatttaagt
gtttcactgagttccggcagagaagaagctaaagattcaaaacaaaatggaggactgatt
ccagttcattctttaaatcttttgctgaagagtattggtgccacactgacagatgtacaa
gatgtagtttttaagcttgcattttttgaactcaactatcagttccatacaacatccgat
ctacagtctgaagtcataagacactattcaaaacaggccattaagcagatgtatgtactc
attcttggacttgatgttttgggaaatccatttggcttaattagagaattttctgaaggt
gtagaagcatttttttatgaaccttaccagggagccatccagggtcctgaagagtttgtg
gaaggaatggcactaggacttaaggcactagttggtggagctgttggtggattggctggt
gctgcctccaaaatcaccggtgctatggctaagggggtagcagctatgaccatggatgaa
gactaccaacagaagagaagagaagccatgaataagcaaccagctggttttagagaaggc
atcactcgtggaggaaaaggcttagtttctggatttgttagtggcataacaggaattgtt
acaaaaccaatcaaaggagctcaaaaaggaggagcagctggtttctttaaaggtgttggg
aaaggtttagtaggagcggtagcaaggccaactggaggcatcatagacatggctagcagt
acatttcagggaataaaaagagctacagagacttctgaagtggagagtctgcgacctcct
cggttcttcaatgaagatggagttatcagaccgtacaggttgagggatgggactggaaat
caaatgttacaggtcatggaaaatggaagatttgcaaaatacaaatattttacccatgtc
atgatcaataagacagatatgctaatgataaccagacgtggtgtattgtttgtaacaaag
ggaacatttggacaactcacgtgtgagtggcagtatagttttgatgaatttaccaaagag
ccattcattgttcatgggagaagattgcgcattgaagcaaaggaacgagtgaagtctgta
tttcatgccagagagtttggaaaaataattaacttcaagaccccagaggatgccaggtgg
atcctcacaaagctacaagaagcaagagaaccttctccgagcctctga

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