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Protein

Vacuolar protein sorting-associated protein 13D

Gene

VPS13D

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Vacuolar protein sorting-associated protein 13D
Gene namesi
Name:VPS13DImported
Synonyms:KIAA0453Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:23595. VPS13D.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • extrinsic component of membrane Source: GO_Central
  • intracellular Source: GO_Central
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134970144.

Polymorphism and mutation databases

BioMutaiVPS13D.
DMDMi74756617.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 43884388Vacuolar protein sorting-associated protein 13DPRO_0000262951Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei663 – 6631PhosphoserineCombined sources
Modified residuei1034 – 10341PhosphoserineCombined sources
Modified residuei1038 – 10381PhosphoserineCombined sources
Modified residuei1042 – 10421PhosphoserineCombined sources
Modified residuei1138 – 11381PhosphoserineCombined sources
Modified residuei1341 – 13411PhosphoserineCombined sources
Modified residuei1598 – 15981PhosphoserineCombined sources
Modified residuei1603 – 16031PhosphoserineCombined sources
Modified residuei1699 – 16991PhosphoserineCombined sources
Modified residuei1761 – 17611PhosphothreonineCombined sources
Modified residuei1765 – 17651PhosphoserineCombined sources
Modified residuei2435 – 24351PhosphoserineCombined sources
Modified residuei2671 – 26711PhosphoserineCombined sources
Modified residuei2861 – 28611PhosphoserineCombined sources
Modified residuei2864 – 28641PhosphoserineCombined sources
Modified residuei2983 – 29831PhosphoserineCombined sources
Modified residuei3524 – 35241N6-acetyllysineCombined sources

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ5THJ4.
MaxQBiQ5THJ4.
PaxDbiQ5THJ4.
PeptideAtlasiQ5THJ4.
PRIDEiQ5THJ4.

PTM databases

iPTMnetiQ5THJ4.
PhosphoSiteiQ5THJ4.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000048707.
ExpressionAtlasiQ5THJ4. baseline and differential.
GenevisibleiQ5THJ4. HS.

Organism-specific databases

HPAiHPA051621.

Interactioni

Protein-protein interaction databases

BioGridi120485. 4 interactions.
IntActiQ5THJ4. 4 interactions.
STRINGi9606.ENSP00000350854.

Structurei

3D structure databases

ProteinModelPortaliQ5THJ4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini2633 – 267644UBAPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the VPS13 family.Sequence analysis
Contains 1 UBA domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG1796. Eukaryota.
KOG1809. Eukaryota.
COG5043. LUCA.
GeneTreeiENSGT00410000025397.
HOVERGENiHBG080098.
InParanoidiQ5THJ4.
KOiK19527.
OMAiHHYILEP.
OrthoDBiEOG091G0OJC.
PhylomeDBiQ5THJ4.
TreeFamiTF300316.

Family and domain databases

InterProiIPR009543. SHR-BD.
IPR015940. UBA.
IPR009060. UBA-like.
IPR026847. VPS13.
IPR031645. VPS13_C.
IPR031642. VPS13_mid_rpt.
IPR026854. VPS13_N.
IPR031646. VPS13_N2.
[Graphical view]
PANTHERiPTHR16166. PTHR16166. 5 hits.
PfamiPF12624. Chorein_N. 1 hit.
PF06650. SHR-BD. 1 hit.
PF00627. UBA. 1 hit.
PF16908. VPS13. 1 hit.
PF16909. VPS13_C. 1 hit.
PF16910. VPS13_mid_rpt. 1 hit.
[Graphical view]
SMARTiSM00165. UBA. 1 hit.
[Graphical view]
SUPFAMiSSF46934. SSF46934. 1 hit.
PROSITEiPS50030. UBA. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 11 Publication (identifier: Q5THJ4-1) [UniParc]FASTAAdd to basket
Also known as: 1A1 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
MLEGLVAWVL NTYLGKYVNN LNTDQLSVAL LKGAVELENL PLKKDALKEL
60 70 80 90 100
ELPFEVKAGF IGKVTLQIPF YRPHVDPWVI SISSLHLIGA PEKIQDFNDE
110 120 130 140 150
KEKLLERERK KALLQALEEK WKNDRQQKGE SYWYSVTASV VTRIVENIEL
160 170 180 190 200
KIQDVHLRFE DGVTNPSHPF AFGICIKNVS MQNAVNEPVQ KLMRKKQLDV
210 220 230 240 250
AEFSIYWDVD CTLLGDLPQM ELQEAMARSM ESRSHHYVLE PVFASALLKR
260 270 280 290 300
NCSKKPLRSR HSPRIDCDIQ LETIPLKLSQ LQYRQIMEFL KELERKERQV
310 320 330 340 350
KFRRWKPKVA ISKNCREWWY FALNANLYEI REQRKRCTWD FMLHRARDAV
360 370 380 390 400
SYTDKYFNKL KGGLLSTDDK EEMCRIEEEQ SFEELKILRE LVHDRFHKQE
410 420 430 440 450
ELAESLREPQ FDSPGACPGA PEPGGGSGML QYLQSWFPGW GGWYGQQTPE
460 470 480 490 500
GNVVEGLSAE QQEQWIPEEI LGTEEFFDPT ADASCMNTYT KRDHVFAKLN
510 520 530 540 550
LQLQRGTVTL LHKEQGTPQM NESAFMQLEF SDVKLLAESL PRRNSSLLSV
560 570 580 590 600
RLGGLFLRDL ATEGTMFPLL VFPNPQKEVG RVSQSFGLQT TSADRSDHYP
610 620 630 640 650
AADPDGPVFE MLYERNPAHS HFERRLNVST RPLNIIYNPQ AIKKVADFFY
660 670 680 690 700
KGKVHTSGFG YQSELELRVA EAARRQYNKL KMQTKAEIRQ TLDRLLVGDF
710 720 730 740 750
IEESKRWTVR LDISAPQVIF PDDFKFKNPV LVVVDLGRML LTNTQDNSRR
760 770 780 790 800
KSRDGSASEE TQFSDDEYKT PLATPPNTPP PESSSSNGEK TPPFSGVEFS
810 820 830 840 850
EEQLQAHLMS TKMYERYSLS FMDLQIMVGR VKDNWKHVQD IDVGPTHVVE
860 870 880 890 900
KFNVHLQLER RLIYTSDPKY PGAVLSGNLP DLKIHINEDK ISALKNCFAL
910 920 930 940 950
LTTPEMKTSD TQIKEKIFPQ EEQRGSLQDS VMNLTQSIVL LEQHTREVLV
960 970 980 990 1000
ESQLLLAEFK VNCMQLGVES NGRYISVLKV FGTNAHFVKR PYDAEVSLTV
1010 1020 1030 1040 1050
HGLLLVDTMQ TYGADFDLLM ASHKNLSFDI PTGSLRDSRA QSPVSGPNVA
1060 1070 1080 1090 1100
HLTDGATLND RSATSVSLDK ILTKEQESLI KLEYQFVSSE CPSMNLDSTL
1110 1120 1130 1140 1150
QVISLQVNNL DIILNPETIV ELIGFLQKSF PKEKDDLSPQ PLMTDFERSF
1160 1170 1180 1190 1200
REQGTYQSTY EQNTEVAVEI HRLNLLLLRT VGMANREKYG RKIATASIGG
1210 1220 1230 1240 1250
TKVNVSMGST FDMNGSLGCL QLMDLTQDNV KNQYVVSIGN SVGYENIISD
1260 1270 1280 1290 1300
IGYFESVFVR MEDAALTEAL SFTFVERSKQ ECFLNLKMAS LHYNHSAKFL
1310 1320 1330 1340 1350
KELTLSMDEL EENFRGMLKS AATKVTTVLA TKTAEYSEMV SLFETPRKTR
1360 1370 1380 1390 1400
EPFILEENEI YGFDLASSHL DTVKLILNIN IESPVVSIPR KPGSPELLVG
1410 1420 1430 1440 1450
HLGQIFIQNF VAGDDESRSD RLQVEIKDIK LYSLNCTQLA GREAVGSEGS
1460 1470 1480 1490 1500
RMFCPPSGSG SANSQEEAHF TRHDFFESLH RGQAFHILNN TTIQFKLEKI
1510 1520 1530 1540 1550
PIERESELTF SLSPDDLGTS SIMKIEGKFV NPVQVVLAKH VYEQVLQTLD
1560 1570 1580 1590 1600
NLVYSEDLNK YPASATSSPC PDSPLPPLST CGESSVERKE NGLFSHSSLS
1610 1620 1630 1640 1650
NTSQKSLSVK EVKSFTQIQA TFCISELQVQ LSGDLTLGAQ GLVSLKFQDF
1660 1670 1680 1690 1700
EVEFSKDHPQ TLSIQIALHS LLMEDLLEKN PDSKYKNLMV SRGAPKPSSL
1710 1720 1730 1740 1750
AQKEYLSQSC PSVSNVEYPD MPRSLPSHME EAPNVFQLYQ RPTSASRKKQ
1760 1770 1780 1790 1800
KEVQDKDYPL TPPPSPTVDE PKILVGKSKF DDSLVHINIF LVDKKHPEFS
1810 1820 1830 1840 1850
SSYNRVNRSI DVDFNCLDVL ITLQTWVVIL DFFGIGSTAD NHAMRLPPEG
1860 1870 1880 1890 1900
ILHNVKLEPH ASMESGLQDP VNTKLDLKVH SLSLVLNKTT SELAKANVSK
1910 1920 1930 1940 1950
LVAHLEMIEG DLALQGSIGS LSLSDLTCHG EFYRERFTTS GEEALIFQTF
1960 1970 1980 1990 2000
KYGRPDPLLR REHDIRVSLR MASVQYVHTQ RFQAEVVAFI QHFTQLQDVL
2010 2020 2030 2040 2050
GRQRAAIEGQ TVRDQAQRCS RVLLDIEAGA PVLLIPESSR SNNLIVANLG
2060 2070 2080 2090 2100
KLKVKNKFLF AGFPGTFSLQ DKESVPSASP TGIPKHSLRK TTSTEEPRGT
2110 2120 2130 2140 2150
HSQGQFTMPL AGMSLGSLKS EFVPSTSTKQ QGPQPTLSVG QESSSPEDHV
2160 2170 2180 2190 2200
CLLDCVVVDL QDMDIFAAER HPREYSKAPE DSSGDLIFPS YFVRQTGGSL
2210 2220 2230 2240 2250
LTEPCRLKLQ VERNLDKEIS HTVPDISIHG NLSSVHCSLD LYKYKLIRGL
2260 2270 2280 2290 2300
LENNLGEPIE EFMRPYDLQD PRIHTVLSGE VYTCMCFLID MVNVSLELKD
2310 2320 2330 2340 2350
PKRKEGAGSL ARFDFKKCKL LYESFSNQTK SINLVSHSMM AFDTRYAGQK
2360 2370 2380 2390 2400
TSPGMTNVFS CIFQPAKNSS TTQGSIQIEL HFRSTKDSSC FTVVLNNLRV
2410 2420 2430 2440 2450
FLIFDWLLLV HDFLHTPSDI KKQNHVTPSR HRNSSSESAI VPKTVKSGVV
2460 2470 2480 2490 2500
TKRSSLPVSN ERHLEVKVNV TGTEFVVIED VSCFDTNAII LKGTTVLTYK
2510 2520 2530 2540 2550
PRFVDRPFSG SLFGIEVFSC RLGNEHDTAL SIVDPVQIQM ELVGNSSYQN
2560 2570 2580 2590 2600
SSGLMDAFNS EDFPPVLEIQ LQALDIRLSY NDVQLFLAIA KSIPEQANAA
2610 2620 2630 2640 2650
VPDSVALESD SVGTYLPGAS RVGEEIREGT RHTLDPVLEL QLARLQELGF
2660 2670 2680 2690 2700
SMDDCRKALL ACQGQLKKAA SWLFKNAEPL KSLSLASTSR DSPGAVAAPL
2710 2720 2730 2740 2750
ISGVEIKAES VCICFIDDCM DCDVPLAELT FSRLNFLQRV RTSPEGYAHF
2760 2770 2780 2790 2800
TLSGDYYNRA LSGWEPFIEP WPCSVSWQQQ AASRLHPPRL KLEAKAKPRL
2810 2820 2830 2840 2850
DINITSVLID QYVSTKESWM ADYCKDDKDI ESAKSEDWMG SSVDPPCFGQ
2860 2870 2880 2890 2900
SLPLVYLRTR STASLTNLEH QIYARAEVKT PKRRQPFVPF ALRNHTGCTL
2910 2920 2930 2940 2950
WFATLTTTPT RAALSHSGSP GVVPEGNGTF LDDTHNVSEW REVLTGEEIP
2960 2970 2980 2990 3000
FEFEARGKLR HRHTHDLRIH QLQVRVNGWE QVSPVSVDKV GTFFRYAAPD
3010 3020 3030 3040 3050
KNSSSSTIGS PSSRTNIIHP QVYFSSLPPV RVVFAVTMEG SARKVITVRS
3060 3070 3080 3090 3100
ALIVRNRLET PMELRLDSPS APDKPVVLPA IMPGDSFAVP LHLTSWRLQA
3110 3120 3130 3140 3150
RPKGLGVFFC KAPIHWTNVV KTAEISSSKR ECHSMDTEKS RFFRFCVAIK
3160 3170 3180 3190 3200
KENYPDYMPS NIFSDSAKQI FRQPGHTIYL LPTVVICNLL PCELDFYVKG
3210 3220 3230 3240 3250
MPINGTLKPG KEAALHTADT SQNIELGVSL ENFPLCKELL IPPGTQNYMV
3260 3270 3280 3290 3300
RMRLYDVNRR QLNLTIRIVC RAEGSLKIFI SAPYWLINKT GLPLIFRQDN
3310 3320 3330 3340 3350
AKTDAAGQFE EHELARSLSP LLFCYADKEQ PNLCTMRIGR GIHPEGMPGW
3360 3370 3380 3390 3400
CQGFSLDGGS GVRALKVIQQ GNRPGLIYNI GIDVKKGRGR YIDTCMVIFA
3410 3420 3430 3440 3450
PRYLLDNKSS HKLAFAQREF ARGQGTANPE GYISTLPGSS VVFHWPRNDY
3460 3470 3480 3490 3500
DQLLCVRLMD VPNCIWSGGF EVNKNNSFHI NMRDTLGKCF FLRVEITLRG
3510 3520 3530 3540 3550
ATYRISFSDT DQLPPPFRID NFSKVPVVFT QHGVAEPRLR TEVKPMTSLD
3560 3570 3580 3590 3600
YAWDEPTLPP FITLTVKGAG SSEINCNMND FQDNRQLYYE NFIYIAATYT
3610 3620 3630 3640 3650
FSGLQEGTGR PVASNKAITC AELVLDVSPK TQRVILKKKE PGKRSQLWRM
3660 3670 3680 3690 3700
TGTGMLAHEG SSVPHNPNKP SAARSTEGSA ILDIAGLAAV TDNRYEPLML
3710 3720 3730 3740 3750
RKPDRRRSTT QTWSFREGKL TCGLHGLVVQ AKGGLSGLFD GAEVVLGPDT
3760 3770 3780 3790 3800
SMELLGPVPP EQQFINQKMR PGSGMLSIRV IPDGPTRALQ ITDFCHRKSS
3810 3820 3830 3840 3850
RSYEVDELPV TEQELQKLKN PDTEQELEVL VRLEGGIGLS LINKVPEELV
3860 3870 3880 3890 3900
FASLTGINVH YTQLATSHML ELSIQDVQVD NQLIGTTQPF MLYVTPLSNE
3910 3920 3930 3940 3950
NEVIETGPAV QVNAVKFPSK SALTNIYKHL MITAQRFTVQ IEEKLLLKLL
3960 3970 3980 3990 4000
SFFGYDQAES EVEKYDENLH EKTAEQGGTP IRYYFENLKI SIPQIKLSVF
4010 4020 4030 4040 4050
TSNKLPLDLK ALKSTLGFPL IRFEDAVINL DPFTRVHPYE TKEFIINDIL
4060 4070 4080 4090 4100
KHFQEELLSQ AARILGSVDF LGNPMGLLND VSEGVTGLIK YGNVGGLIRN
4110 4120 4130 4140 4150
VTHGVSNSAA KFAGTLSDGL GKTMDNRHQS EREYIRYHAA TSGEHLVAGI
4160 4170 4180 4190 4200
HGLAHGIIGG LTSVITSTVE GVKTEGGVSG FISGLGKGLV GTVTKPVAGA
4210 4220 4230 4240 4250
LDFASETAQA VRDTATLSGP RTQAQRVRKP RCCTGPQGLL PRYSESQAEG
4260 4270 4280 4290 4300
QEQLFKLTDN IQDEFFIAVE NIDSYCVLIS SKAVYFLKSG DYVDREAIFL
4310 4320 4330 4340 4350
EVKYDDLYHC LVSKDHGKVY VQVTKKAVST SSGVSIPGPS HQKPMVHVKS
4360 4370 4380
EVLAVKLSQE INYAKSLYYE QQLMLRLSEN REQLELDS
Length:4,388
Mass (Da):491,916
Last modified:April 16, 2014 - v2
Checksum:i799681E3BE2D1DDD
GO
Isoform 21 Publication (identifier: Q5THJ4-2) [UniParc]FASTAAdd to basket
Also known as: 2A1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     2851-2876: SLPLVYLRTRSTASLTNLEHQIYARA → T

Show »
Length:4,363
Mass (Da):489,060
Checksum:iE18E3D1D0532EF68
GO

Sequence cautioni

The sequence BAC86054 differs from that shown. Reason: Frameshift at position 3074. Curated
The sequence CAE46021 differs from that shown. Reason: Frameshift at position 3689. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti2332 – 23321I → V in CAE46021 (PubMed:17974005).Curated
Sequence conflicti2361 – 23611C → R in CAE46021 (PubMed:17974005).Curated
Sequence conflicti2783 – 27831S → G in CAE75586 (PubMed:15498460).Curated
Sequence conflicti2783 – 27831S → G in CAE75587 (PubMed:15498460).Curated
Sequence conflicti2876 – 28761Missing in BAA32298 (PubMed:17974005).Curated
Sequence conflicti3203 – 32031I → T in AAH28115 (PubMed:15489334).Curated
Sequence conflicti3332 – 33321N → S in CAE46021 (PubMed:17974005).Curated
Sequence conflicti3379 – 33791N → S in CAE46021 (PubMed:17974005).Curated
Sequence conflicti3400 – 34001A → T in CAE46021 (PubMed:17974005).Curated
Sequence conflicti3678 – 36781G → E in CAE46021 (PubMed:17974005).Curated
Sequence conflicti3994 – 39941Q → R in CAE46021 (PubMed:17974005).Curated
Sequence conflicti4268 – 42681A → T in CAE46021 (PubMed:17974005).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti225 – 2251A → T.
Corresponds to variant rs12057307 [ dbSNP | Ensembl ].
VAR_029557
Natural varianti1341 – 13411S → L.
Corresponds to variant rs12407578 [ dbSNP | Ensembl ].
VAR_029558
Natural varianti1505 – 15051E → V.
Corresponds to variant rs4845898 [ dbSNP | Ensembl ].
VAR_029559
Natural varianti1624 – 16241I → T.
Corresponds to variant rs41279454 [ dbSNP | Ensembl ].
VAR_062169
Natural varianti1707 – 17071S → F.
Corresponds to variant rs958068 [ dbSNP | Ensembl ].
VAR_029560

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei2851 – 287626SLPLV…IYARA → T in isoform 2. 3 PublicationsVSP_052249Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ608774 mRNA. Translation: CAE75586.1.
AJ608775 mRNA. Translation: CAE75587.1.
AL031276
, AL031296, AL109757, BX682532, BX784395, BX784396 Genomic DNA. Translation: CAI19223.1.
AL031296
, AL031276, AL109757, BX682532, BX784395, BX784396 Genomic DNA. Translation: CAI23164.1.
AL109757
, AL031276, AL031296, BX682532, BX784395, BX784396 Genomic DNA. Translation: CAI22116.1.
BX682532
, AL031276, AL031296, AL109757, BX784395, BX784396 Genomic DNA. Translation: CAI23591.1.
BX784395
, AL031276, AL031296, AL109757, BX682532, BX784396 Genomic DNA. Translation: CAI19412.1.
BX784396
, AL031276, AL031296, AL109757, BX682532, BX784395 Genomic DNA. Translation: CAI19414.1.
AL162331 mRNA. Translation: CAB82724.1.
AB007922 mRNA. Translation: BAA32298.3.
AK125118 mRNA. Translation: BAC86054.1. Sequence problems.
BX641035 mRNA. Translation: CAE46021.1. Frameshift.
BC028115 mRNA. Translation: AAH28115.1.
BC051804 mRNA. Translation: AAH51804.1.
CCDSiCCDS30588.1. [Q5THJ4-1]
CCDS30589.1. [Q5THJ4-2]
PIRiT00067.
RefSeqiNP_056193.2. NM_015378.3. [Q5THJ4-1]
NP_060626.2. NM_018156.3. [Q5THJ4-2]
UniGeneiHs.439381.

Genome annotation databases

EnsembliENST00000613099; ENSP00000482233; ENSG00000048707. [Q5THJ4-2]
ENST00000620676; ENSP00000478104; ENSG00000048707. [Q5THJ4-1]
GeneIDi55187.
KEGGihsa:55187.
UCSCiuc031tou.2. human. [Q5THJ4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ608774 mRNA. Translation: CAE75586.1.
AJ608775 mRNA. Translation: CAE75587.1.
AL031276
, AL031296, AL109757, BX682532, BX784395, BX784396 Genomic DNA. Translation: CAI19223.1.
AL031296
, AL031276, AL109757, BX682532, BX784395, BX784396 Genomic DNA. Translation: CAI23164.1.
AL109757
, AL031276, AL031296, BX682532, BX784395, BX784396 Genomic DNA. Translation: CAI22116.1.
BX682532
, AL031276, AL031296, AL109757, BX784395, BX784396 Genomic DNA. Translation: CAI23591.1.
BX784395
, AL031276, AL031296, AL109757, BX682532, BX784396 Genomic DNA. Translation: CAI19412.1.
BX784396
, AL031276, AL031296, AL109757, BX682532, BX784395 Genomic DNA. Translation: CAI19414.1.
AL162331 mRNA. Translation: CAB82724.1.
AB007922 mRNA. Translation: BAA32298.3.
AK125118 mRNA. Translation: BAC86054.1. Sequence problems.
BX641035 mRNA. Translation: CAE46021.1. Frameshift.
BC028115 mRNA. Translation: AAH28115.1.
BC051804 mRNA. Translation: AAH51804.1.
CCDSiCCDS30588.1. [Q5THJ4-1]
CCDS30589.1. [Q5THJ4-2]
PIRiT00067.
RefSeqiNP_056193.2. NM_015378.3. [Q5THJ4-1]
NP_060626.2. NM_018156.3. [Q5THJ4-2]
UniGeneiHs.439381.

3D structure databases

ProteinModelPortaliQ5THJ4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120485. 4 interactions.
IntActiQ5THJ4. 4 interactions.
STRINGi9606.ENSP00000350854.

PTM databases

iPTMnetiQ5THJ4.
PhosphoSiteiQ5THJ4.

Polymorphism and mutation databases

BioMutaiVPS13D.
DMDMi74756617.

Proteomic databases

EPDiQ5THJ4.
MaxQBiQ5THJ4.
PaxDbiQ5THJ4.
PeptideAtlasiQ5THJ4.
PRIDEiQ5THJ4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000613099; ENSP00000482233; ENSG00000048707. [Q5THJ4-2]
ENST00000620676; ENSP00000478104; ENSG00000048707. [Q5THJ4-1]
GeneIDi55187.
KEGGihsa:55187.
UCSCiuc031tou.2. human. [Q5THJ4-1]

Organism-specific databases

CTDi55187.
GeneCardsiVPS13D.
H-InvDBHIX0116256.
HGNCiHGNC:23595. VPS13D.
HPAiHPA051621.
MIMi608877. gene.
neXtProtiNX_Q5THJ4.
PharmGKBiPA134970144.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1796. Eukaryota.
KOG1809. Eukaryota.
COG5043. LUCA.
GeneTreeiENSGT00410000025397.
HOVERGENiHBG080098.
InParanoidiQ5THJ4.
KOiK19527.
OMAiHHYILEP.
OrthoDBiEOG091G0OJC.
PhylomeDBiQ5THJ4.
TreeFamiTF300316.

Miscellaneous databases

ChiTaRSiVPS13D. human.
GeneWikiiVPS13D.
GenomeRNAii55187.
PROiQ5THJ4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000048707.
ExpressionAtlasiQ5THJ4. baseline and differential.
GenevisibleiQ5THJ4. HS.

Family and domain databases

InterProiIPR009543. SHR-BD.
IPR015940. UBA.
IPR009060. UBA-like.
IPR026847. VPS13.
IPR031645. VPS13_C.
IPR031642. VPS13_mid_rpt.
IPR026854. VPS13_N.
IPR031646. VPS13_N2.
[Graphical view]
PANTHERiPTHR16166. PTHR16166. 5 hits.
PfamiPF12624. Chorein_N. 1 hit.
PF06650. SHR-BD. 1 hit.
PF00627. UBA. 1 hit.
PF16908. VPS13. 1 hit.
PF16909. VPS13_C. 1 hit.
PF16910. VPS13_mid_rpt. 1 hit.
[Graphical view]
SMARTiSM00165. UBA. 1 hit.
[Graphical view]
SUPFAMiSSF46934. SSF46934. 1 hit.
PROSITEiPS50030. UBA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiVP13D_HUMAN
AccessioniPrimary (citable) accession number: Q5THJ4
Secondary accession number(s): J3KP14
, Q58F10, Q6MZK9, Q6ZV12, Q709C4, Q709C5, Q86UB4, Q9NSJ3, Q9UIM0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: April 16, 2014
Last modified: September 7, 2016
This is version 103 of the entry and version 2 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 1
    Human chromosome 1: 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.