Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54832
Gene name Gene Name - the full gene name approved by the HGNC.
Vacuolar protein sorting 13 homolog C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
VPS13C
Synonyms (NCBI Gene) Gene synonyms aliases
BLTP5C, PARK23
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PARK23
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q22.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs369100678 C>G Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs756128065 G>A Likely-pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs869312809 A>C Pathogenic Genic downstream transcript variant, splice donor variant
rs869312810 C>A Pathogenic Stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs869312811 G>- Pathogenic Frameshift variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022057 hsa-miR-128-3p Microarray 17612493
MIRT024877 hsa-miR-215-5p Microarray 19074876
MIRT026941 hsa-miR-192-5p Microarray 19074876
MIRT030336 hsa-miR-26b-5p Microarray 19088304
MIRT045079 hsa-miR-186-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm TAS 20081857
GO:0005741 Component Mitochondrial outer membrane IDA 26942284
GO:0005829 Component Cytosol IDA 26942284
GO:0006623 Process Protein targeting to vacuole IBA 21873635
GO:0006895 Process Golgi to endosome transport TAS 20081857
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608879 23594 ENSG00000129003
Protein
UniProt ID Q709C8
Protein name Intermembrane lipid transfer protein VPS13C (Vacuolar protein sorting-associated protein 13C)
Protein function Mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Necessary for proper mitochondrial function and maintenance of mitochondrial transmembrane potential (PubMed:26942284). Involved in the regulation of P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12624 Chorein_N 3 117 N-terminal region of Chorein or VPS13 Family
PF16908 VPS13 182 414 Vacuolar sorting-associated protein 13, N-terminal Family
PF16910 VPS13_mid_rpt 612 833 Repeating coiled region of VPS13 Repeat
PF16910 VPS13_mid_rpt 1174 1371 Repeating coiled region of VPS13 Repeat
PF16910 VPS13_mid_rpt 1688 1885 Repeating coiled region of VPS13 Repeat
PF06650 SHR-BD 2764 3018 SHR-binding domain of vacuolar-sorting associated protein 13 Family
PF16909 VPS13_C 3322 3500 Vacuolar-sorting-associated 13 protein C-terminal Family
PF09333 ATG_C 3503 3593 Autophagy-related protein C terminal domain Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:15498460}.
Sequence
MVLESVVADLLNRFLGDYVENLNKSQLKLGIWGGNVALDNLQIKENALSELDVPFKVKAG
QIDKLTLKIPWKNLYGEAVVATLEGLYLLVVPGASIKYDAVKEEKSLQDVKQKELSR
IEE
ALQKAAEKGTHSGEFIYGLENFVYKDIKPGRKRKKHKKHFKKPFKGLDRSKDKPKEAKKD
TFVEKLATQVIKNVQVKITDIHIKYEDDVTDPKRPLSFGVTLGELSLLTANEHWTPCILN
EADKIIYKLIRLDSLSAYWNVNCSMSYQRSREQILDQLKNEILTSGNIPPNYQYIFQPIS
ASAKLYMNPYAESELKTPKLDCNIEIQNIAIELTKPQYLSMIDLLESVDYMVRNAPYRKY
KPYLPLHTNGRRWWKYAIDSVLEVHIRRYTQMWSWSNIKKHRQLLKSYKIAYKN
KLTQSK
VSEEIQKEIQDLEKTLDVFNIILARQQAQVEVIRSGQKLRKKSADTGEKRGGWFSGLWGK
KESKKKDEESLIPETIDDLMTPEEKDKLFTAIGYSESTHNLTLPKQYVAHIMTLKLVSTS
VTIRENKNIPEILKIQIIGLGTQVSQRPGAQALKVEAKLEHWYITGLRQQDIVPSLVASI
GDTTSSLLKIKFETNPEDSPADQTLIVQSQPVEVIYDAKTVNAVVEFFQSNKGLDLEQIT
SATLMKLEEIKERTATGLTHIIETRKVLDLRINLKPSYLVVPQTGFHHEKSDLLILDFGT
FQLNSKDQGLQKTTNSSLEEIMDKAYDKFDVEIKNVQLLFARAEETWKKCRFQHPSTMHI
LQPMDIHVELAKAMVEKDIRMARFKVSGGLPLMHVRISDQKMKDVLYLMNSIP
LPQKSSA
QSPERQVSSIPIISGGTKGLLGTSLLLDTVESESDDEYFDAEDGEPQTCKSMKGSELKKA
AEVPNEELINLLLKFEIKEVILEFTKQQKEEDTILVFNVTQLGTEATMRTFDLTVVSYLK
KISLDYHEIEGSKRKPLHLISSSDKPGLDLLKVEYIKADKNGPSFQTAFGKTEQTVKVAF
SSLNLLLQTQALVASINYLTTIIPSDDQSISVAKEVQISTEKQQKNSTLPKAIVSSRDSD
IIDFRLFAKLNAFCVIVCNEKNNIAEIKIQGLDSSLSLQSRKQSLFARLENIIVTDVDPK
TVHKKAVSIMGNEVFRFNLDLYPDATEGDLYTDMSKVDGVLSLNVGCIQIVYLHKFLMSL
LNFLNNFQTAKESLSAATAQAAERAATSVKDLAQRSFRVSINIDLKAPVIVIPQSSISTN
AVVVDLGLIRVHNQFSLVSDEDYLNPPVIDRMDVQLTKLTLYRTVIQPGIYHPDIQLLHP
INLEFLVNRNLAASWYHKVPVVEIKGHLDSMNVSLNQEDLNLLFRILTENL
CEGTEDLDK
VKPRVQETGEIKEPLEISISQDVHDSKNTLTTGVEEIRSVDIINMLLNFEIKEVVVTLMK
KSEKKGRPLHELNVLQLGMEAKVKTYDMTAKAYLKKISMQCFDFTDSKGEPLHIINSSNV
TDEPLLKMLLTKADSDGPEFKTIHDSTKQRLKVSFASLDLVLHLEALLSFMDFLSSAAPF
SEPSSSEKESELKPLVGESRSIAVKAVSSNISQKDVFDLKITAELNAFNVFVCDQKCNIA
DIKIHGMDASISVKPKQTDVFARLKDIIVMNVDLQSIHKKAVSILGDEVFRFQLTLYPDA
TEGEAYADMSKVDGKLSFKVGCIQIVYVHKFFMSLLNFLNNFQTAKEALSTATVQAAERA
ASSMKDLAQKSFRLLMDINLKAPVIIIPQSSVSPNAVIADLGLIRVENKFSLVPMEHYSL
PPVIDKMNIELTQLKLSRTILQASLPQNDIEILKPVNMLLSIQRNLAAAWYVQIPGMEIK
GKLKPMQVALSEDDLTVLMKILLEN
LGEASSQPSPTQSVQETVRVRKVDVSSVPDHLKEQ
EDWTDSKLSMNQIVSLQFDFHFESLSIILYNNDINQESGVAFHNDSFQLGELRLHLMASS
GKMFKDGSMNVSVKLKTCTLDDLREGIERATSRMIDRKNDQDNNSSMIDISYKQDKNGSQ
IDAVLDKLYVCASVEFLMTVADFFIKAVPQSPENVAKETQILPRQTATGKVKIEKDDSVR
PNMTLKAMITDPEVVFVASLTKADAPALTASFQCNLSLSTSKLEQMMEASVRDLKVLACP
FLREKRGKNITTVLQPCSLFMEKCTWASGKQNINIMVKEFIIKISPIILNTVLTIMAALS
PKTKEDGSKDTSKEMENLWGIKSINDYNTWFLGVDTATEITESFKGIEHSLIEENCGVVV
ESIQVTLECGLGHRTVPLLLAESKFSGNIKNWTSLMAAVADVTLQVHYYNEIHAVWEPLI
ERVEGKRQWNLRLDVKKNPVQDKSLLPGDDFIPEPQMAIHISSGNTMNITISKSCLNVFN
NLAKGFSEGTASTFDYSLKDRAPFTVKNAVGVPIKVKPNCNLRVMGFPEKSDIFDVDAGQ
NLELEYASMVPSSQGNLSILSRQESSFFTLTIVPHGYTEVANIPVARPGRRLYNVRNPNA
SHSDSVLVQIDATEGNKVITLRSPLQIKNHFSIAFIIYKFVKNVKLLERIGIARPEEEFH
VPLDSYRCQLFIQPAGILEHQYKESTTYISWKEELHRSREVRCMLQCPSVEVSFLPLIVN
TVALPDELSYICTHGEDWDVAYIIHLYPSLTLRNLLPYSLRYLLEGTAETHELAEGSTAD
VLHSRISGEIMELVLVKYQGKNWNGHFRIRDTLPEFFPVCFSSDSTEVTTVDLSVHVRRI
GSRMVLSVFSPYWLINKTTRVLQYRSEDIHVKHPADFRDIILFSFKKKNIFTKNKVQLKI
STSAWSSSFSLDTVGSYGCVKCPANNMEYLVGVSIKMSSFNLSRIVTLTPFCTIANKSSL
ELEVGEIASDGSMPTNKWNYIASSECLPFWPESLSGKLCVRVVGCEGSSKPFFYNRQDNG
TLLSLEDLNGGILVDVNTAEHSTVITFSDYHEGSAPALIMNHTPWDILTYKQSGSPEEMV
LLPRQARLFAWADPTGTR
KLTWTYAANVGEHDLLKDGCGQFPYDANIQIHWVSFLDGRQR
VLLFTDDVALVSKALQAEEMEQADYEITLSLHSLGLSLVNNESKQEVSYIGITSSGVVWE
VKPKQKWKPFSQKQIILLEQSYQKHQISRDHGWIKLDNNFEVNFDKDPMEMRLPIRSPIK
RDFLSGIQIEFKQSSHQRSLRARLYWLQVDNQLPGAMFPVVFHPVAPPKSIALDSEPKPF
IDVSVITRFNEYSKVLQFKYFMVLIQEMALKIDQGFLGAIIALFTPTTDPEAERRRTKLI
QQDIDALNAELMETSMTDMSILSFFEHFHISPVKLHLSLSLGSGGEESDKEKQEMFAVHS
VNLLLKSIGATLTDVDDLIFKLAYYEIRYQFYKRDQLIWSVVRHYSEQFLKQMYVLVLGL
DVLGNPFGLIRGLSEGVEALFYEPFQGAVQGPEEFAEGLVIGVRSLFGHTVGGAAGVVSR
ITGSVGKGLAAITMDKEYQQ
KRREELSRQPRDFGDSLARGGKGFLRGVVGGVTGIITKPV
EGAKKEGAAGFFKGIGKGLVGAVARPTGGIVDMASSTFQGIQRAAESTEEVSS
LRPPRLI
HEDGIIRPYDRQESEGSDLLENHIKKLEGETYRYHCAIPGSKKTILMVTNRRVLCIKEVE
ILGLMCVDWQCPFEDFVFPPSVSENVLKISVKEQGLFHKKDSANQGCVRKVYLKDTATAE
RACNAIEDAQSTRQQQKLMKQSSVRLLRPQLPS
Sequence length 3753
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Akinesia Akinesia rs606231129, rs606231131, rs606231132, rs118203995, rs606231133, rs104894299, rs104894300, rs786200904, rs786200905, rs104894294, rs121909254, rs121909255, rs121909256, rs150376433, rs863223335
View all (33 more)
Dysautonomia Dysautonomia rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086
View all (27 more)
Parkinson disease Parkinsonian Disorders, Parkinson Disease, PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET, Young-onset Parkinson disease rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432
View all (84 more)
26942284, 28862745
Unknown
Disease term Disease name Evidence References Source
Mental depression Depressive disorder ClinVar
Metabolic Syndrome Metabolic Syndrome GWAS
Diabetes Diabetes GWAS
Oligodendroglioma Oligodendroglioma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Cohen syndrome Associate 31876103
Dementia Associate 31836585, 37330543
Diabetes Mellitus Type 2 Stimulate 21873549
Glucose Metabolism Disorders Associate 21789219
Lewy Body Disease Associate 33579389
Lupus Erythematosus Systemic Associate 39306342
Lupus Vasculitis Central Nervous System Associate 39306342
Melanoma Cutaneous Malignant Associate 33663112
Multiple Myeloma Associate 37700273
Neuroacanthocytosis Associate 31876103