VPS13D (vacuolar protein sorting 13 homolog D)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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55187 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Vacuolar protein sorting 13 homolog D |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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VPS13D |
SynonymsGene synonyms aliases
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BLTP5D, SCA24, SCAR4, SCASI |
ChromosomeChromosome number
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1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1p36.22-p36.21 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While se |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs746736545 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs756025227 |
C>A,G,T |
Pathogenic |
Stop gained, synonymous variant, coding sequence variant, missense variant |
rs779850187 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1557478316 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs1557680710 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs1557680919 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs1557684974 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1557705968 |
TG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1557737087 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
rs1569704391 |
C>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q5THJ4 |
Protein name |
Intermembrane lipid transfer protein VPS13D (Vacuolar protein sorting-associated protein 13D) |
Protein function |
Mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Functions in promoting mitochondrial clearance by mitochondrial autophagy (mitophagy), also possibly by positively regulating mitochondrial fission (Pu |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF12624 |
Chorein_N |
2 → 116 |
N-terminal region of Chorein or VPS13 |
Family |
PF16908 |
VPS13 |
136 → 358 |
Vacuolar sorting-associated protein 13, N-terminal |
Family |
PF16910 |
VPS13_mid_rpt |
613 → 774 |
Repeating coiled region of VPS13 |
Repeat |
PF16910 |
VPS13_mid_rpt |
782 → 901 |
Repeating coiled region of VPS13 |
Repeat |
PF00627 |
UBA |
2637 → 2673 |
UBA/TS-N domain |
Domain |
PF06650 |
SHR-BD |
3276 → 3560 |
SHR-binding domain of vacuolar-sorting associated protein 13 |
Family |
PF16909 |
VPS13_C |
3982 → 4130 |
Vacuolar-sorting-associated 13 protein C-terminal |
Family |
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Sequence |
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Sequence length |
4388 |
Interactions |
View interactions |
Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Asthma |
Asthma |
rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 |
24406073 |
Nystagmus |
Nystagmus |
rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896 |
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Spinocerebellar ataxia |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 |
rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926, rs104894393, rs587776685, rs121908216, rs121908215, rs121908217, rs121909326, rs121918511, rs121918512, rs121918513, rs121918514, rs121918515, rs121918516, rs121918517, rs121918518, rs1555808841, rs104894699, rs104894700, rs121912425, rs121913123, rs267606939, rs201486601, rs387906679, rs151344514, rs151344515, rs151344517, rs387907033, rs387907089, rs794726680, rs761213683, rs794726681, rs1555779353, rs151344513, rs151344518, rs151344522, rs397514535, rs397514536, rs318240735, rs386134171, rs386134158, rs386134159, rs386134160, rs386134161, rs386134162, rs386134163, rs386134164, rs386134165, rs386134166, rs386134168, rs386134170, rs386134169, rs146859515, rs373728971, rs397515475, rs397515476, rs587777052, rs121908247, rs121908200, rs398122959, rs587777127, rs587777128, rs587777235, rs587777340, rs587777341, rs587777342, rs587777344, rs587777345, rs587777346, rs587777347, rs587780326, rs587777670, rs587777671, rs606231451, rs606231452, rs540331226, rs144272231, rs690016544, rs727502823, rs372250159, rs793888526, rs876657385, rs869320748, rs876657386, rs786205229, rs876657387, rs774694340, rs786205867, rs794727411, rs797044955, rs797044872, rs797045634, rs797045240, rs765592794, rs797045900, rs748445058, rs863223919, rs765987297, rs863224882, rs753611141, rs869025292, rs869025293, rs755221106, rs869312685, rs751181600, rs886037832, rs875989881, rs372245668, rs879255601, rs876657414, rs752281590, rs879253883, rs1114167316, rs879255651, rs879255653, rs879255654, rs886039392, rs540839115, rs886039762, rs201128942, rs886041279, rs531656357, rs1057519453, rs1057519454, rs573267388, rs1057519561, rs200277996, rs1064795856, rs749320057, rs750331613, rs1131692265, rs761564262, rs1555768154, rs1210764379, rs758937084, rs1555475283, rs1555475375, rs760424025, rs1555806333, rs1554308513, rs1554274719, rs1554317158, rs201920319, rs1553724533, rs1554985851, rs768831597, rs1554986345, rs1555755878, rs1554902760, rs368143665, rs1555370787, rs1322796318, rs1553756062, rs772345347, rs149905705, rs1555475794, rs760752847, rs1555781806, rs1555738369, rs1554986337, rs1184563885, rs1553758021, rs1559718601, rs1206950481, rs1568523843, rs748984540, rs1557539450, rs1557541619, rs771145682, rs1564808324, rs1567283195, rs752352896, rs1557794465, rs547792505, rs193922929, rs1571636501, rs1571636508, rs1571939827, rs1571939905, rs1559603328, rs1562374476, rs1599651549, rs1590020571, rs1598832526, rs1575415900, rs779142717, rs781016340, rs1366090807, rs1579319300, rs1311909367, rs1589625941, rs749656742, rs1317590341, rs1599943097, rs1590955348, rs749679347, rs1590911156, rs1395191127, rs1405576707, rs541484241, rs1598820860, rs1598832568, rs1589611043, rs758809498, rs754446573 |
29604224, 29518281 |
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