Homo sapiens (human): 23230
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Entry
23230 CDS
T01001
Symbol
VPS13A, BLTP5A, CHAC, CHOREIN
Name
(RefSeq) intermembrane lipid transfer protein VPS13A isoform A
KO
K19525
vacuolar protein sorting-associated protein 13A/C
Organism
hsa
Homo sapiens (human)
Pathway
hsa04142
Lysosome biogenesis
Disease
H00832
Core neuroacanthocytosis syndromes
H01432
Choreoacanthocytosis
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09140 Cellular Processes
09141 Transport and catabolism
04142 Lysosome biogenesis
23230 (VPS13A)
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
GFIT
Motif
Pfam:
VPS13_N
VPS13_M
VPS13_VAB
VPS13_C
RRM_fung
C5orf22
Motif
Other DBs
NCBI-GeneID:
23230
NCBI-ProteinID:
NP_150648
OMIM:
605978
HGNC:
1908
Ensembl:
ENSP00000353422.3
UniProt:
Q96RL7
LinkDB
All DBs
Position
9:77177534..77421537
Genome browser
AA seq
3174 aa
AA seq
DB search
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
NT seq
+upstream
nt +downstream
nt
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
DBGET
integrated database retrieval system
