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Protein

Vacuolar protein sorting-associated protein 13C

Gene

VPS13C

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Necessary for proper mitochondrial function and maintenance of mitochondrial transmembrane potential. Involved in the regulation of PINK1/PARK2-mediated mitophagy in response to mitochondrial depolarization.1 Publication

GO - Biological processi

  • Golgi to endosome transport Source: ParkinsonsUK-UCL
  • mitochondrion organization Source: ParkinsonsUK-UCL
  • negative regulation of parkin-mediated mitophagy in response to mitochondrial depolarization Source: ParkinsonsUK-UCL
  • protein retention in Golgi apparatus Source: GO_Central
  • protein targeting to vacuole Source: GO_Central
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Vacuolar protein sorting-associated protein 13C
Gene namesi
Name:VPS13CImported
Synonyms:KIAA1421Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:23594. VPS13C.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: ParkinsonsUK-UCL
  • cytosol Source: ParkinsonsUK-UCL
  • extracellular exosome Source: UniProtKB
  • extrinsic component of membrane Source: GO_Central
  • mitochondrial outer membrane Source: ParkinsonsUK-UCL
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion outer membrane

Pathology & Biotechi

Involvement in diseasei

Parkinson disease 23, autosomal recessive, early onset (PARK23)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, early-onset form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain.
See also OMIM:616840
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0763631389G → R in PARK23. 1 PublicationCorresponds to variant rs369100678dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Parkinson disease, Parkinsonism

Organism-specific databases

DisGeNETi54832.
MIMi616840. phenotype.
OpenTargetsiENSG00000129003.
PharmGKBiPA134990089.

Polymorphism and mutation databases

BioMutaiVPS13C.
DMDMi74712594.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002629491 – 3753Vacuolar protein sorting-associated protein 13CAdd BLAST3753

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei132PhosphoserineBy similarity1
Modified residuei614PhosphothreonineCombined sources1
Modified residuei619PhosphoserineCombined sources1
Modified residuei624PhosphothreonineCombined sources1
Modified residuei737PhosphoserineCombined sources1
Modified residuei842PhosphoserineCombined sources1
Modified residuei872PhosphoserineBy similarity1
Modified residuei874PhosphoserineBy similarity1
Modified residuei1979PhosphoserineBy similarity1
Modified residuei2473PhosphoserineCombined sources1
Modified residuei3519Omega-N-methylarginineBy similarity1
Modified residuei3526Omega-N-methylarginineCombined sources1
Modified residuei3538N6-acetyllysineCombined sources1
Modified residuei3641PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein

Proteomic databases

EPDiQ709C8.
MaxQBiQ709C8.
PaxDbiQ709C8.
PeptideAtlasiQ709C8.
PRIDEiQ709C8.

PTM databases

iPTMnetiQ709C8.
PhosphoSitePlusiQ709C8.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000129003.
CleanExiHS_VPS13C.
GenevisibleiQ709C8. HS.

Organism-specific databases

HPAiHPA043356.
HPA043507.

Interactioni

Protein-protein interaction databases

BioGridi120186. 15 interactors.
IntActiQ709C8. 4 interactors.
STRINGi9606.ENSP00000261517.

Structurei

3D structure databases

ProteinModelPortaliQ709C8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi145 – 179Lys-richSequence analysisAdd BLAST35

Sequence similaritiesi

Belongs to the VPS13 family.Sequence analysis

Phylogenomic databases

eggNOGiKOG1809. Eukaryota.
COG5043. LUCA.
GeneTreeiENSGT00410000025397.
HOVERGENiHBG079736.
InParanoidiQ709C8.
KOiK19525.
OMAiTHIIETR.
OrthoDBiEOG091G001Z.
PhylomeDBiQ709C8.
TreeFamiTF300316.

Family and domain databases

InterProiIPR015412. Autophagy-rel_C.
IPR009543. SHR-BD.
IPR026847. VPS13.
IPR031645. VPS13_C.
IPR031642. VPS13_mid_rpt.
IPR026854. VPS13_N.
IPR031646. VPS13_N2.
[Graphical view]
PANTHERiPTHR16166. PTHR16166. 3 hits.
PfamiPF09333. ATG_C. 1 hit.
PF12624. Chorein_N. 1 hit.
PF06650. SHR-BD. 1 hit.
PF16908. VPS13. 1 hit.
PF16909. VPS13_C. 1 hit.
PF16910. VPS13_mid_rpt. 3 hits.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 11 Publication (identifier: Q709C8-1) [UniParc]FASTAAdd to basket
Also known as: 2A1 Publication

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MVLESVVADL LNRFLGDYVE NLNKSQLKLG IWGGNVALDN LQIKENALSE
60 70 80 90 100
LDVPFKVKAG QIDKLTLKIP WKNLYGEAVV ATLEGLYLLV VPGASIKYDA
110 120 130 140 150
VKEEKSLQDV KQKELSRIEE ALQKAAEKGT HSGEFIYGLE NFVYKDIKPG
160 170 180 190 200
RKRKKHKKHF KKPFKGLDRS KDKPKEAKKD TFVEKLATQV IKNVQVKITD
210 220 230 240 250
IHIKYEDDVT DPKRPLSFGV TLGELSLLTA NEHWTPCILN EADKIIYKLI
260 270 280 290 300
RLDSLSAYWN VNCSMSYQRS REQILDQLKN EILTSGNIPP NYQYIFQPIS
310 320 330 340 350
ASAKLYMNPY AESELKTPKL DCNIEIQNIA IELTKPQYLS MIDLLESVDY
360 370 380 390 400
MVRNAPYRKY KPYLPLHTNG RRWWKYAIDS VLEVHIRRYT QMWSWSNIKK
410 420 430 440 450
HRQLLKSYKI AYKNKLTQSK VSEEIQKEIQ DLEKTLDVFN IILARQQAQV
460 470 480 490 500
EVIRSGQKLR KKSADTGEKR GGWFSGLWGK KESKKKDEES LIPETIDDLM
510 520 530 540 550
TPEEKDKLFT AIGYSESTHN LTLPKQYVAH IMTLKLVSTS VTIRENKNIP
560 570 580 590 600
EILKIQIIGL GTQVSQRPGA QALKVEAKLE HWYITGLRQQ DIVPSLVASI
610 620 630 640 650
GDTTSSLLKI KFETNPEDSP ADQTLIVQSQ PVEVIYDAKT VNAVVEFFQS
660 670 680 690 700
NKGLDLEQIT SATLMKLEEI KERTATGLTH IIETRKVLDL RINLKPSYLV
710 720 730 740 750
VPQTGFHHEK SDLLILDFGT FQLNSKDQGL QKTTNSSLEE IMDKAYDKFD
760 770 780 790 800
VEIKNVQLLF ARAEETWKKC RFQHPSTMHI LQPMDIHVEL AKAMVEKDIR
810 820 830 840 850
MARFKVSGGL PLMHVRISDQ KMKDVLYLMN SIPLPQKSSA QSPERQVSSI
860 870 880 890 900
PIISGGTKGL LGTSLLLDTV ESESDDEYFD AEDGEPQTCK SMKGSELKKA
910 920 930 940 950
AEVPNEELIN LLLKFEIKEV ILEFTKQQKE EDTILVFNVT QLGTEATMRT
960 970 980 990 1000
FDLTVVSYLK KISLDYHEIE GSKRKPLHLI SSSDKPGLDL LKVEYIKADK
1010 1020 1030 1040 1050
NGPSFQTAFG KTEQTVKVAF SSLNLLLQTQ ALVASINYLT TIIPSDDQSI
1060 1070 1080 1090 1100
SVAKEVQIST EKQQKNSTLP KAIVSSRDSD IIDFRLFAKL NAFCVIVCNE
1110 1120 1130 1140 1150
KNNIAEIKIQ GLDSSLSLQS RKQSLFARLE NIIVTDVDPK TVHKKAVSIM
1160 1170 1180 1190 1200
GNEVFRFNLD LYPDATEGDL YTDMSKVDGV LSLNVGCIQI VYLHKFLMSL
1210 1220 1230 1240 1250
LNFLNNFQTA KESLSAATAQ AAERAATSVK DLAQRSFRVS INIDLKAPVI
1260 1270 1280 1290 1300
VIPQSSISTN AVVVDLGLIR VHNQFSLVSD EDYLNPPVID RMDVQLTKLT
1310 1320 1330 1340 1350
LYRTVIQPGI YHPDIQLLHP INLEFLVNRN LAASWYHKVP VVEIKGHLDS
1360 1370 1380 1390 1400
MNVSLNQEDL NLLFRILTEN LCEGTEDLDK VKPRVQETGE IKEPLEISIS
1410 1420 1430 1440 1450
QDVHDSKNTL TTGVEEIRSV DIINMLLNFE IKEVVVTLMK KSEKKGRPLH
1460 1470 1480 1490 1500
ELNVLQLGME AKVKTYDMTA KAYLKKISMQ CFDFTDSKGE PLHIINSSNV
1510 1520 1530 1540 1550
TDEPLLKMLL TKADSDGPEF KTIHDSTKQR LKVSFASLDL VLHLEALLSF
1560 1570 1580 1590 1600
MDFLSSAAPF SEPSSSEKES ELKPLVGESR SIAVKAVSSN ISQKDVFDLK
1610 1620 1630 1640 1650
ITAELNAFNV FVCDQKCNIA DIKIHGMDAS ISVKPKQTDV FARLKDIIVM
1660 1670 1680 1690 1700
NVDLQSIHKK AVSILGDEVF RFQLTLYPDA TEGEAYADMS KVDGKLSFKV
1710 1720 1730 1740 1750
GCIQIVYVHK FFMSLLNFLN NFQTAKEALS TATVQAAERA ASSMKDLAQK
1760 1770 1780 1790 1800
SFRLLMDINL KAPVIIIPQS SVSPNAVIAD LGLIRVENKF SLVPMEHYSL
1810 1820 1830 1840 1850
PPVIDKMNIE LTQLKLSRTI LQASLPQNDI EILKPVNMLL SIQRNLAAAW
1860 1870 1880 1890 1900
YVQIPGMEIK GKLKPMQVAL SEDDLTVLMK ILLENLGEAS SQPSPTQSVQ
1910 1920 1930 1940 1950
ETVRVRKVDV SSVPDHLKEQ EDWTDSKLSM NQIVSLQFDF HFESLSIILY
1960 1970 1980 1990 2000
NNDINQESGV AFHNDSFQLG ELRLHLMASS GKMFKDGSMN VSVKLKTCTL
2010 2020 2030 2040 2050
DDLREGIERA TSRMIDRKND QDNNSSMIDI SYKQDKNGSQ IDAVLDKLYV
2060 2070 2080 2090 2100
CASVEFLMTV ADFFIKAVPQ SPENVAKETQ ILPRQTATGK VKIEKDDSVR
2110 2120 2130 2140 2150
PNMTLKAMIT DPEVVFVASL TKADAPALTA SFQCNLSLST SKLEQMMEAS
2160 2170 2180 2190 2200
VRDLKVLACP FLREKRGKNI TTVLQPCSLF MEKCTWASGK QNINIMVKEF
2210 2220 2230 2240 2250
IIKISPIILN TVLTIMAALS PKTKEDGSKD TSKEMENLWG IKSINDYNTW
2260 2270 2280 2290 2300
FLGVDTATEI TESFKGIEHS LIEENCGVVV ESIQVTLECG LGHRTVPLLL
2310 2320 2330 2340 2350
AESKFSGNIK NWTSLMAAVA DVTLQVHYYN EIHAVWEPLI ERVEGKRQWN
2360 2370 2380 2390 2400
LRLDVKKNPV QDKSLLPGDD FIPEPQMAIH ISSGNTMNIT ISKSCLNVFN
2410 2420 2430 2440 2450
NLAKGFSEGT ASTFDYSLKD RAPFTVKNAV GVPIKVKPNC NLRVMGFPEK
2460 2470 2480 2490 2500
SDIFDVDAGQ NLELEYASMV PSSQGNLSIL SRQESSFFTL TIVPHGYTEV
2510 2520 2530 2540 2550
ANIPVARPGR RLYNVRNPNA SHSDSVLVQI DATEGNKVIT LRSPLQIKNH
2560 2570 2580 2590 2600
FSIAFIIYKF VKNVKLLERI GIARPEEEFH VPLDSYRCQL FIQPAGILEH
2610 2620 2630 2640 2650
QYKESTTYIS WKEELHRSRE VRCMLQCPSV EVSFLPLIVN TVALPDELSY
2660 2670 2680 2690 2700
ICTHGEDWDV AYIIHLYPSL TLRNLLPYSL RYLLEGTAET HELAEGSTAD
2710 2720 2730 2740 2750
VLHSRISGEI MELVLVKYQG KNWNGHFRIR DTLPEFFPVC FSSDSTEVTT
2760 2770 2780 2790 2800
VDLSVHVRRI GSRMVLSVFS PYWLINKTTR VLQYRSEDIH VKHPADFRDI
2810 2820 2830 2840 2850
ILFSFKKKNI FTKNKVQLKI STSAWSSSFS LDTVGSYGCV KCPANNMEYL
2860 2870 2880 2890 2900
VGVSIKMSSF NLSRIVTLTP FCTIANKSSL ELEVGEIASD GSMPTNKWNY
2910 2920 2930 2940 2950
IASSECLPFW PESLSGKLCV RVVGCEGSSK PFFYNRQDNG TLLSLEDLNG
2960 2970 2980 2990 3000
GILVDVNTAE HSTVITFSDY HEGSAPALIM NHTPWDILTY KQSGSPEEMV
3010 3020 3030 3040 3050
LLPRQARLFA WADPTGTRKL TWTYAANVGE HDLLKDGCGQ FPYDANIQIH
3060 3070 3080 3090 3100
WVSFLDGRQR VLLFTDDVAL VSKALQAEEM EQADYEITLS LHSLGLSLVN
3110 3120 3130 3140 3150
NESKQEVSYI GITSSGVVWE VKPKQKWKPF SQKQIILLEQ SYQKHQISRD
3160 3170 3180 3190 3200
HGWIKLDNNF EVNFDKDPME MRLPIRSPIK RDFLSGIQIE FKQSSHQRSL
3210 3220 3230 3240 3250
RARLYWLQVD NQLPGAMFPV VFHPVAPPKS IALDSEPKPF IDVSVITRFN
3260 3270 3280 3290 3300
EYSKVLQFKY FMVLIQEMAL KIDQGFLGAI IALFTPTTDP EAERRRTKLI
3310 3320 3330 3340 3350
QQDIDALNAE LMETSMTDMS ILSFFEHFHI SPVKLHLSLS LGSGGEESDK
3360 3370 3380 3390 3400
EKQEMFAVHS VNLLLKSIGA TLTDVDDLIF KLAYYEIRYQ FYKRDQLIWS
3410 3420 3430 3440 3450
VVRHYSEQFL KQMYVLVLGL DVLGNPFGLI RGLSEGVEAL FYEPFQGAVQ
3460 3470 3480 3490 3500
GPEEFAEGLV IGVRSLFGHT VGGAAGVVSR ITGSVGKGLA AITMDKEYQQ
3510 3520 3530 3540 3550
KRREELSRQP RDFGDSLARG GKGFLRGVVG GVTGIITKPV EGAKKEGAAG
3560 3570 3580 3590 3600
FFKGIGKGLV GAVARPTGGI VDMASSTFQG IQRAAESTEE VSSLRPPRLI
3610 3620 3630 3640 3650
HEDGIIRPYD RQESEGSDLL ENHIKKLEGE TYRYHCAIPG SKKTILMVTN
3660 3670 3680 3690 3700
RRVLCIKEVE ILGLMCVDWQ CPFEDFVFPP SVSENVLKIS VKEQGLFHKK
3710 3720 3730 3740 3750
DSANQGCVRK VYLKDTATAE RACNAIEDAQ STRQQQKLMK QSSVRLLRPQ

LPS
Length:3,753
Mass (Da):422,390
Last modified:July 5, 2004 - v1
Checksum:i8B51A6778A89F639
GO
Isoform 21 Publication (identifier: Q709C8-2) [UniParc]FASTAAdd to basket
Also known as: 2B1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     3622-3627: NHIKKL → QELEIQE
     3628-3753: Missing.

Show »
Length:3,628
Mass (Da):408,198
Checksum:i23C6AE1C69EEB060
GO
Isoform 31 Publication (identifier: Q709C8-3) [UniParc]FASTAAdd to basket
Also known as: 1A1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     129-171: Missing.

Show »
Length:3,710
Mass (Da):417,276
Checksum:i80E0633970F14F4B
GO
Isoform 41 Publication (identifier: Q709C8-4) [UniParc]FASTAAdd to basket
Also known as: 1B1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     129-171: Missing.
     3622-3627: NHIKKL → QELEIQE
     3628-3753: Missing.

Show »
Length:3,585
Mass (Da):403,084
Checksum:i433756079CA119A0
GO

Sequence cautioni

The sequence BAA90972 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA92659 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_029548153R → H.Corresponds to variant rs12595158dbSNPEnsembl.1
Natural variantiVAR_029549974R → K.1 PublicationCorresponds to variant rs3784634dbSNPEnsembl.1
Natural variantiVAR_0295501132I → V.Corresponds to variant rs3784635dbSNPEnsembl.1
Natural variantiVAR_0295511302Y → C.Corresponds to variant rs2303405dbSNPEnsembl.1
Natural variantiVAR_0763631389G → R in PARK23. 1 PublicationCorresponds to variant rs369100678dbSNPEnsembl.1
Natural variantiVAR_0295521485T → A.Corresponds to variant rs8026956dbSNPEnsembl.1
Natural variantiVAR_0295531495I → V.Corresponds to variant rs11629598dbSNPEnsembl.1
Natural variantiVAR_0295541592S → Y.Corresponds to variant rs11629838dbSNPEnsembl.1
Natural variantiVAR_0295552322V → M.Corresponds to variant rs12907567dbSNPEnsembl.1
Natural variantiVAR_0538082808K → R.Corresponds to variant rs34060567dbSNPEnsembl.1
Natural variantiVAR_0741912872C → F.1 Publication1
Natural variantiVAR_0295562913S → N.Corresponds to variant rs10851704dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_052243129 – 171Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST43
Alternative sequenceiVSP_0522443622 – 3627NHIKKL → QELEIQE in isoform 2 and isoform 4. 1 Publication6
Alternative sequenceiVSP_0522453628 – 3753Missing in isoform 2 and isoform 4. 1 PublicationAdd BLAST126

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ608770 mRNA. Translation: CAE75582.1.
AJ608771 mRNA. Translation: CAE75583.1.
AJ626860 mRNA. Translation: CAF25187.1.
AJ626861 mRNA. Translation: CAF25188.1.
AB037842 mRNA. Translation: BAA92659.1. Different initiation.
AK000143 mRNA. Translation: BAA90972.1. Different initiation.
BC069387 mRNA. Translation: AAH69387.1.
CCDSiCCDS10180.1. [Q709C8-3]
CCDS32257.1. [Q709C8-1]
CCDS45272.1. [Q709C8-2]
CCDS58367.1. [Q709C8-4]
RefSeqiNP_001018098.1. NM_001018088.2. [Q709C8-2]
NP_060154.3. NM_017684.4. [Q709C8-3]
NP_060550.2. NM_018080.3. [Q709C8-4]
NP_065872.1. NM_020821.2. [Q709C8-1]
UniGeneiHs.511668.

Genome annotation databases

EnsembliENST00000249837; ENSP00000249837; ENSG00000129003. [Q709C8-3]
ENST00000261517; ENSP00000261517; ENSG00000129003. [Q709C8-1]
ENST00000395896; ENSP00000379233; ENSG00000129003. [Q709C8-2]
ENST00000395898; ENSP00000379235; ENSG00000129003. [Q709C8-4]
GeneIDi54832.
KEGGihsa:54832.
UCSCiuc002agz.4. human. [Q709C8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ608770 mRNA. Translation: CAE75582.1.
AJ608771 mRNA. Translation: CAE75583.1.
AJ626860 mRNA. Translation: CAF25187.1.
AJ626861 mRNA. Translation: CAF25188.1.
AB037842 mRNA. Translation: BAA92659.1. Different initiation.
AK000143 mRNA. Translation: BAA90972.1. Different initiation.
BC069387 mRNA. Translation: AAH69387.1.
CCDSiCCDS10180.1. [Q709C8-3]
CCDS32257.1. [Q709C8-1]
CCDS45272.1. [Q709C8-2]
CCDS58367.1. [Q709C8-4]
RefSeqiNP_001018098.1. NM_001018088.2. [Q709C8-2]
NP_060154.3. NM_017684.4. [Q709C8-3]
NP_060550.2. NM_018080.3. [Q709C8-4]
NP_065872.1. NM_020821.2. [Q709C8-1]
UniGeneiHs.511668.

3D structure databases

ProteinModelPortaliQ709C8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120186. 15 interactors.
IntActiQ709C8. 4 interactors.
STRINGi9606.ENSP00000261517.

PTM databases

iPTMnetiQ709C8.
PhosphoSitePlusiQ709C8.

Polymorphism and mutation databases

BioMutaiVPS13C.
DMDMi74712594.

Proteomic databases

EPDiQ709C8.
MaxQBiQ709C8.
PaxDbiQ709C8.
PeptideAtlasiQ709C8.
PRIDEiQ709C8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000249837; ENSP00000249837; ENSG00000129003. [Q709C8-3]
ENST00000261517; ENSP00000261517; ENSG00000129003. [Q709C8-1]
ENST00000395896; ENSP00000379233; ENSG00000129003. [Q709C8-2]
ENST00000395898; ENSP00000379235; ENSG00000129003. [Q709C8-4]
GeneIDi54832.
KEGGihsa:54832.
UCSCiuc002agz.4. human. [Q709C8-1]

Organism-specific databases

CTDi54832.
DisGeNETi54832.
GeneCardsiVPS13C.
HGNCiHGNC:23594. VPS13C.
HPAiHPA043356.
HPA043507.
MIMi608879. gene.
616840. phenotype.
neXtProtiNX_Q709C8.
OpenTargetsiENSG00000129003.
PharmGKBiPA134990089.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1809. Eukaryota.
COG5043. LUCA.
GeneTreeiENSGT00410000025397.
HOVERGENiHBG079736.
InParanoidiQ709C8.
KOiK19525.
OMAiTHIIETR.
OrthoDBiEOG091G001Z.
PhylomeDBiQ709C8.
TreeFamiTF300316.

Miscellaneous databases

ChiTaRSiVPS13C. human.
GenomeRNAii54832.
PROiQ709C8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000129003.
CleanExiHS_VPS13C.
GenevisibleiQ709C8. HS.

Family and domain databases

InterProiIPR015412. Autophagy-rel_C.
IPR009543. SHR-BD.
IPR026847. VPS13.
IPR031645. VPS13_C.
IPR031642. VPS13_mid_rpt.
IPR026854. VPS13_N.
IPR031646. VPS13_N2.
[Graphical view]
PANTHERiPTHR16166. PTHR16166. 3 hits.
PfamiPF09333. ATG_C. 1 hit.
PF12624. Chorein_N. 1 hit.
PF06650. SHR-BD. 1 hit.
PF16908. VPS13. 1 hit.
PF16909. VPS13_C. 1 hit.
PF16910. VPS13_mid_rpt. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiVP13C_HUMAN
AccessioniPrimary (citable) accession number: Q709C8
Secondary accession number(s): Q6ISR4
, Q702P2, Q702P3, Q709C9, Q9NXN8, Q9P2C6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: July 5, 2004
Last modified: November 30, 2016
This is version 104 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.