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Protein

Vacuolar protein sorting-associated protein 13A

Gene

VPS13A

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

Functioni

May play a role in the control of protein cycling through the trans-Golgi network to early and late endosomes, lysosomes and plasma membrane.

GO - Biological processi

  • autophagy Source: dictyBase
  • Golgi to endosome transport Source: UniProtKB
  • locomotory behavior Source: Ensembl
  • nervous system development Source: Ensembl
  • protein localization Source: UniProtKB
  • protein retention in Golgi apparatus Source: GO_Central
  • protein targeting to vacuole Source: GO_Central
  • social behavior Source: Ensembl

Keywordsi

Biological processProtein transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Vacuolar protein sorting-associated protein 13A
Alternative name(s):
Chorea-acanthocytosis protein
Chorein
Gene namesi
Name:VPS13A
Synonyms:CHAC, KIAA0986
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000197969.11
HGNCiHGNC:1908 VPS13A
MIMi605978 gene
neXtProtiNX_Q96RL7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Choreoacanthocytosis (CHAC)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology. Basal ganglia atrophy in the brain is a pathological feature of the disease. Other clinical symptoms include psychiatric features, epilepsy, peripheral neuropathy, myopathy and oral self-mutilation.
See also OMIM:200150
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03842090I → K in CHAC. 1 PublicationCorresponds to variant dbSNP:rs119477052EnsemblClinVar.1
Natural variantiVAR_0581161095A → P in CHAC. 1 Publication1
Natural variantiVAR_0128031452S → P in CHAC. 1 Publication1
Natural variantiVAR_0581202460W → R in CHAC. 1 Publication1
Natural variantiVAR_0384212721Y → C in CHAC. 1 PublicationCorresponds to variant dbSNP:rs781395681Ensembl.1

Keywords - Diseasei

Disease mutation, Epilepsy, Neurodegeneration

Organism-specific databases

DisGeNETi23230
GeneReviewsiVPS13A
MalaCardsiVPS13A
MIMi200150 phenotype
OpenTargetsiENSG00000197969
Orphaneti2388 Choreoacanthocytosis
PharmGKBiPA26444

Polymorphism and mutation databases

BioMutaiVPS13A
DMDMi71152975

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001062771 – 3174Vacuolar protein sorting-associated protein 13AAdd BLAST3174

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei839PhosphoserineBy similarity1
Modified residuei1416PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96RL7
MaxQBiQ96RL7
PaxDbiQ96RL7
PeptideAtlasiQ96RL7
PRIDEiQ96RL7
ProteomicsDBi77984
77985 [Q96RL7-2]
77986 [Q96RL7-3]
77987 [Q96RL7-4]

PTM databases

CarbonylDBiQ96RL7
GlyConnecti1889
iPTMnetiQ96RL7
PhosphoSitePlusiQ96RL7

Expressioni

Tissue specificityi

Widely expressed. Higher expression is found in brain, heart, skeletal muscle and kidney.

Gene expression databases

BgeeiENSG00000197969 Expressed in 223 organ(s), highest expression level in intestine
ExpressionAtlasiQ96RL7 baseline and differential
GenevisibleiQ96RL7 HS

Organism-specific databases

HPAiHPA021652
HPA021662

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
NCK1P163333EBI-1752583,EBI-389883

Protein-protein interaction databases

BioGridi116835, 21 interactors
IntActiQ96RL7, 10 interactors
STRINGi9606.ENSP00000353422

Structurei

3D structure databases

ProteinModelPortaliQ96RL7
SMRiQ96RL7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati212 – 245TPR 1Add BLAST34
Repeati373 – 406TPR 2Add BLAST34
Repeati537 – 575TPR 3Add BLAST39
Repeati1256 – 1289TPR 4Add BLAST34
Repeati1291 – 1320TPR 5Add BLAST30
Repeati2009 – 2041TPR 6Add BLAST33
Repeati2568 – 2601TPR 7Add BLAST34
Repeati2717 – 2751TPR 8Add BLAST35
Repeati2860 – 2898TPR 9Add BLAST39
Repeati3086 – 3119TPR 10Add BLAST34

Sequence similaritiesi

Belongs to the VPS13 family.Curated

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG1809 Eukaryota
COG5043 LUCA
GeneTreeiENSGT00410000025397
HOVERGENiHBG079736
InParanoidiQ96RL7
KOiK19525
OMAiAQRCIIE
OrthoDBiEOG091G001Z
PhylomeDBiQ96RL7
TreeFamiTF300316

Family and domain databases

InterProiView protein in InterPro
IPR015412 Autophagy-rel_C
IPR009543 SHR-BD
IPR026847 VPS13
IPR031645 VPS13_C
IPR031642 VPS13_mid_rpt
IPR026854 VPS13_N
IPR031646 VPS13_N2
PANTHERiPTHR16166 PTHR16166, 1 hit
PfamiView protein in Pfam
PF09333 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, 2 hits

Sequences (4+)i

Sequence statusi: Complete.

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

This entry has 4 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96RL7-1) [UniParc]FASTAAdd to basket
Also known as: A

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
MVFESVVVDV LNRFLGDYVV DLDTSQLSLG IWKGAVALKN LQIKENALSQ
60 70 80 90 100
LDVPFKVKVG HIGNLKLIIP WKNLYTQPVE AVLEEIYLLI VPSSRIKYDP
110 120 130 140 150
LKEEKQLMEA KQQELKRIEE AKQKVVDQEQ HLPEKQDTFA EKLVTQIIKN
160 170 180 190 200
LQVKISSIHI RYEDDITNRD KPLSFGISLQ NLSMQTTDQY WVPCLHDETE
210 220 230 240 250
KLVRKLIRLD NLFAYWNVKS QMFYLSDYDN SLDDLKNGIV NENIVPEGYD
260 270 280 290 300
FVFRPISANA KLVMNRRSDF DFSAPKINLE IELHNIAIEF NKPQYFSIME
310 320 330 340 350
LLESVDMMAQ NLPYRKFKPD VPLHHHAREW WAYAIHGVLE VNVCPRLWMW
360 370 380 390 400
SWKHIRKHRQ KVKQYKELYK KKLTSKKPPG ELLVSLEELE KTLDVFNITI
410 420 430 440 450
ARQTAEVEVK KAGYKIYKEG VKDPEDNKGW FSWLWSWSEQ NTNEQQPDVQ
460 470 480 490 500
PETLEEMLTP EEKALLYEAI GYSETAVDPT LLKTFEALKF FVHLKSMSIV
510 520 530 540 550
LRENHQKPEL VDIVIEEFST LIVQRPGAQA IKFETKIDSF HITGLPDNSE
560 570 580 590 600
KPRLLSSLDD AMSLFQITFE INPLDETVSQ RCIIEAEPLE IIYDARTVNS
610 620 630 640 650
IVEFFRPPKE VHLAQLTAAT LTKLEEFRSK TATGLLYIIE TQKVLDLKIN
660 670 680 690 700
LKASYIIVPQ DGIFSPTSNL LLLDLGHLKV TSKSRSELPD VKQGEANLKE
710 720 730 740 750
IMDRAYDSFD IQLTSVQLLY SRVGDNWREA RKLSVSTQHI LVPMHFNLEL
760 770 780 790 800
SKAMVFMDVR MPKFKIYGKL PLISLRISDK KLQGIMELIE SIPKPEPVTE
810 820 830 840 850
VSAPVKSFQI QTSTSLGTSQ ISQKIIPLLE LPSVSEDDSE EEFFDAPCSP
860 870 880 890 900
LEEPLQFPTG VKSIRTRKLQ KQDCSVNMTT FKIRFEVPKV LIEFYHLVGD
910 920 930 940 950
CELSVVEILV LGLGAEIEIR TYDLKANAFL KEFCLKCPEY LDENKKPVYL
960 970 980 990 1000
VTTLDNTMED LLTLEYVKAE KNVPDLKSTY NNVLQLIKVN FSSLDIHLHT
1010 1020 1030 1040 1050
EALLNTINYL HNILPQSEEK SAPVSTTETE DKGDVIKKLA LKLSTNEDII
1060 1070 1080 1090 1100
TLQILAELSC LQIFIQDQKC NISEIKIEGL DSEMIMRPSE TEINAKLRNI
1110 1120 1130 1140 1150
IVLDSDITAI YKKAVYITGK EVFSFKMVSY MDATAGSAYT DMNVVDIQVN
1160 1170 1180 1190 1200
LIVGCIEVVF VTKFLYSILA FIDNFQAAKQ ALAEATVQAA GMAATGVKEL
1210 1220 1230 1240 1250
AQRSSRMALD INIKAPVVVI PQSPVSENVF VADFGLITMT NTFHMITESQ
1260 1270 1280 1290 1300
SSPPPVIDLI TIKLSEMRLY RSRFINDAYQ EVLDLLLPLN LEVVVERNLC
1310 1320 1330 1340 1350
WEWYQEVPCF NVNAQLKPME FILSQEDITT IFKTLHGNIW YEKDGSASPA
1360 1370 1380 1390 1400
VTKDQYSATS GVTTNASHHS GGATVVTAAV VEVHSRALLV KTTLNISFKT
1410 1420 1430 1440 1450
DDLTMVLYSP GPKQASFTDV RDPSLKLAEF KLENIISTLK MYTDGSTFSS
1460 1470 1480 1490 1500
FSLKNCILDD KRPHVKKATP RMIGLTVGFD KKDMMDIKYR KVRDGCVTDA
1510 1520 1530 1540 1550
VFQEMYICAS VEFLQTVANV FLEAYTTGTA VETSVQTWTA KEEVPTQESV
1560 1570 1580 1590 1600
KWEINVIIKN PEIVFVADMT KNDAPALVIT TQCEICYKGN LENSTMTAAI
1610 1620 1630 1640 1650
KDLQVRACPF LPVKRKGKIT TVLQPCDLFY QTTQKGTDPQ VIDMSVKSLT
1660 1670 1680 1690 1700
LKVSPVIINT MITITSALYT TKETIPEETA SSTAHLWEKK DTKTLKMWFL
1710 1720 1730 1740 1750
EESNETEKIA PTTELVPKGE MIKMNIDSIF IVLEAGIGHR TVPMLLAKSR
1760 1770 1780 1790 1800
FSGEGKNWSS LINLHCQLEL EVHYYNEMFG VWEPLLEPLE IDQTEDFRPW
1810 1820 1830 1840 1850
NLGIKMKKKA KMAIVESDPE EENYKVPEYK TVISFHSKDQ LNITLSKCGL
1860 1870 1880 1890 1900
VMLNNLVKAF TEAATGSSAD FVKDLAPFMI LNSLGLTISV SPSDSFSVLN
1910 1920 1930 1940 1950
IPMAKSYVLK NGESLSMDYI RTKDNDHFNA MTSLSSKLFF ILLTPVNHST
1960 1970 1980 1990 2000
ADKIPLTKVG RRLYTVRHRE SGVERSIVCQ IDTVEGSKKV TIRSPVQIRN
2010 2020 2030 2040 2050
HFSVPLSVYE GDTLLGTASP ENEFNIPLGS YRSFIFLKPE DENYQMCEGI
2060 2070 2080 2090 2100
DFEEIIKNDG ALLKKKCRSK NPSKESFLIN IVPEKDNLTS LSVYSEDGWD
2110 2120 2130 2140 2150
LPYIMHLWPP ILLRNLLPYK IAYYIEGIEN SVFTLSEGHS AQICTAQLGK
2160 2170 2180 2190 2200
ARLHLKLLDY LNHDWKSEYH IKPNQQDISF VSFTCVTEME KTDLDIAVHM
2210 2220 2230 2240 2250
TYNTGQTVVA FHSPYWMVNK TGRMLQYKAD GIHRKHPPNY KKPVLFSFQP
2260 2270 2280 2290 2300
NHFFNNNKVQ LMVTDSELSN QFSIDTVGSH GAVKCKGLKM DYQVGVTIDL
2310 2320 2330 2340 2350
SSFNITRIVT FTPFYMIKNK SKYHISVAEE GNDKWLSLDL EQCIPFWPEY
2360 2370 2380 2390 2400
ASSKLLIQVE RSEDPPKRIY FNKQENCILL RLDNELGGII AEVNLAEHST
2410 2420 2430 2440 2450
VITFLDYHDG AATFLLINHT KNELVQYNQS SLSEIEDSLP PGKAVFYTWA
2460 2470 2480 2490 2500
DPVGSRRLKW RCRKSHGEVT QKDDMMMPID LGEKTIYLVS FFEGLQRIIL
2510 2520 2530 2540 2550
FTEDPRVFKV TYESEKAELA EQEIAVALQD VGISLVNNYT KQEVAYIGIT
2560 2570 2580 2590 2600
SSDVVWETKP KKKARWKPMS VKHTEKLERE FKEYTESSPS EDKVIQLDTN
2610 2620 2630 2640 2650
VPVRLTPTGH NMKILQPHVI ALRRNYLPAL KVEYNTSAHQ SSFRIQIYRI
2660 2670 2680 2690 2700
QIQNQIHGAV FPFVFYPVKP PKSVTMDSAP KPFTDVSIVM RSAGHSQISR
2710 2720 2730 2740 2750
IKYFKVLIQE MDLRLDLGFI YALTDLMTEA EVTENTEVEL FHKDIEAFKE
2760 2770 2780 2790 2800
EYKTASLVDQ SQVSLYEYFH ISPIKLHLSV SLSSGREEAK DSKQNGGLIP
2810 2820 2830 2840 2850
VHSLNLLLKS IGATLTDVQD VVFKLAFFEL NYQFHTTSDL QSEVIRHYSK
2860 2870 2880 2890 2900
QAIKQMYVLI LGLDVLGNPF GLIREFSEGV EAFFYEPYQG AIQGPEEFVE
2910 2920 2930 2940 2950
GMALGLKALV GGAVGGLAGA ASKITGAMAK GVAAMTMDED YQQKRREAMN
2960 2970 2980 2990 3000
KQPAGFREGI TRGGKGLVSG FVSGITGIVT KPIKGAQKGG AAGFFKGVGK
3010 3020 3030 3040 3050
GLVGAVARPT GGIIDMASST FQGIKRATET SEVESLRPPR FFNEDGVIRP
3060 3070 3080 3090 3100
YRLRDGTGNQ MLQVMENGRF AKYKYFTHVM INKTDMLMIT RRGVLFVTKG
3110 3120 3130 3140 3150
TFGQLTCEWQ YSFDEFTKEP FIVHGRRLRI EAKERVKSVF HAREFGKIIN
3160 3170
FKTPEDARWI LTKLQEAREP SPSL
Length:3,174
Mass (Da):360,276
Last modified:July 19, 2005 - v2
Checksum:i58C8EC818E3350F4
GO
Isoform 2 (identifier: Q96RL7-2) [UniParc]FASTAAdd to basket
Also known as: B

The sequence of this isoform differs from the canonical sequence as follows:
     3064-3174: VMENGRFAKY...QEAREPSPSL → KIQFYREWIMTHSSSSDDDDDDDDDDESDLNH

Show »
Length:3,095
Mass (Da):350,903
Checksum:i525800E2A69DDBF5
GO
Isoform 3 (identifier: Q96RL7-3) [UniParc]FASTAAdd to basket
Also known as: Chorein 2A

The sequence of this isoform differs from the canonical sequence as follows:
     1040-1078: Missing.

Show »
Length:3,135
Mass (Da):355,861
Checksum:i2C854C334B5C4B73
GO
Isoform 4 (identifier: Q96RL7-4) [UniParc]FASTAAdd to basket
Also known as: Chorein 1D

The sequence of this isoform differs from the canonical sequence as follows:
     3064-3069: VMENGR → ASKSLI
     3070-3174: Missing.

Show »
Length:3,069
Mass (Da):347,673
Checksum:i688A6FAAEA6B5CEE
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YF78H0YF78_HUMAN
Vacuolar protein sorting-associated...
VPS13A
177Annotation score:
H0Y7P8H0Y7P8_HUMAN
Vacuolar protein sorting-associated...
VPS13A
383Annotation score:
H0YG53H0YG53_HUMAN
Vacuolar protein sorting-associated...
VPS13A
41Annotation score:

Sequence cautioni

The sequence AAH20576 differs from that shown. Intron retention.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1198K → R in AAK61861 (PubMed:11381253).Curated1
Sequence conflicti1850L → R in AAH41852 (PubMed:15489334).Curated1
Sequence conflicti1880I → F in AAH41852 (PubMed:15489334).Curated1
Sequence conflicti2281G → E in BAB14337 (PubMed:14702039).Curated1
Sequence conflicti2354K → R in AAH41852 (PubMed:15489334).Curated1
Sequence conflicti2413T → R in BAB14337 (PubMed:14702039).Curated1
Sequence conflicti2567K → E in BAB14337 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03842090I → K in CHAC. 1 PublicationCorresponds to variant dbSNP:rs119477052EnsemblClinVar.1
Natural variantiVAR_036324161R → H in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_058114565F → L1 Publication1
Natural variantiVAR_058115898V → A1 PublicationCorresponds to variant dbSNP:rs78048112Ensembl.1
Natural variantiVAR_0581161095A → P in CHAC. 1 Publication1
Natural variantiVAR_0128031452S → P in CHAC. 1 Publication1
Natural variantiVAR_0581171490R → K1 PublicationCorresponds to variant dbSNP:rs76077278EnsemblClinVar.1
Natural variantiVAR_0581181587Y → C1 PublicationCorresponds to variant dbSNP:rs149840356EnsemblClinVar.1
Natural variantiVAR_0581191973V → I1 PublicationCorresponds to variant dbSNP:rs41289969Ensembl.1
Natural variantiVAR_0581202460W → R in CHAC. 1 Publication1
Natural variantiVAR_0581212486I → T1 PublicationCorresponds to variant dbSNP:rs141138349EnsemblClinVar.1
Natural variantiVAR_0384212721Y → C in CHAC. 1 PublicationCorresponds to variant dbSNP:rs781395681Ensembl.1
Natural variantiVAR_0581223172P → L1 PublicationCorresponds to variant dbSNP:rs75740713Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0149041040 – 1078Missing in isoform 3. 1 PublicationAdd BLAST39
Alternative sequenceiVSP_0065503064 – 3174VMENG…PSPSL → KIQFYREWIMTHSSSSDDDD DDDDDDESDLNH in isoform 2. 3 PublicationsAdd BLAST111
Alternative sequenceiVSP_0149053064 – 3069VMENGR → ASKSLI in isoform 4. 1 Publication6
Alternative sequenceiVSP_0149063070 – 3174Missing in isoform 4. 1 PublicationAdd BLAST105

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF337532 mRNA Translation: AAK61861.1
AB054005 mRNA Translation: BAB59128.1
AJ608769 mRNA Translation: CAE75581.1
AJ626859 mRNA Translation: CAF25186.1
AL158159 Genomic DNA No translation available.
AL353710 Genomic DNA No translation available.
AL359204 Genomic DNA No translation available.
AB023203 mRNA Translation: BAA76830.1
BC020576 mRNA Translation: AAH20576.1 Sequence problems.
BC041852 mRNA Translation: AAH41852.1
AK022967 mRNA Translation: BAB14337.1
CCDSiCCDS47983.1 [Q96RL7-4]
CCDS55321.1 [Q96RL7-3]
CCDS6655.1 [Q96RL7-1]
CCDS6656.1 [Q96RL7-2]
RefSeqiNP_001018047.1, NM_001018037.1 [Q96RL7-3]
NP_001018048.1, NM_001018038.2 [Q96RL7-4]
NP_056001.1, NM_015186.3 [Q96RL7-2]
NP_150648.2, NM_033305.2 [Q96RL7-1]
UniGeneiHs.459790
Hs.655754
Hs.662256

Genome annotation databases

EnsembliENST00000357409; ENSP00000349985; ENSG00000197969 [Q96RL7-2]
ENST00000360280; ENSP00000353422; ENSG00000197969 [Q96RL7-1]
ENST00000376634; ENSP00000365821; ENSG00000197969 [Q96RL7-4]
ENST00000376636; ENSP00000365823; ENSG00000197969 [Q96RL7-3]
ENST00000643348; ENSP00000493592; ENSG00000197969 [Q96RL7-2]
ENST00000644843; ENSP00000494809; ENSG00000197969 [Q96RL7-1]
ENST00000645632; ENSP00000496361; ENSG00000197969 [Q96RL7-4]
GeneIDi23230
KEGGihsa:23230
UCSCiuc004akp.5 human [Q96RL7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF337532 mRNA Translation: AAK61861.1
AB054005 mRNA Translation: BAB59128.1
AJ608769 mRNA Translation: CAE75581.1
AJ626859 mRNA Translation: CAF25186.1
AL158159 Genomic DNA No translation available.
AL353710 Genomic DNA No translation available.
AL359204 Genomic DNA No translation available.
AB023203 mRNA Translation: BAA76830.1
BC020576 mRNA Translation: AAH20576.1 Sequence problems.
BC041852 mRNA Translation: AAH41852.1
AK022967 mRNA Translation: BAB14337.1
CCDSiCCDS47983.1 [Q96RL7-4]
CCDS55321.1 [Q96RL7-3]
CCDS6655.1 [Q96RL7-1]
CCDS6656.1 [Q96RL7-2]
RefSeqiNP_001018047.1, NM_001018037.1 [Q96RL7-3]
NP_001018048.1, NM_001018038.2 [Q96RL7-4]
NP_056001.1, NM_015186.3 [Q96RL7-2]
NP_150648.2, NM_033305.2 [Q96RL7-1]
UniGeneiHs.459790
Hs.655754
Hs.662256

3D structure databases

ProteinModelPortaliQ96RL7
SMRiQ96RL7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116835, 21 interactors
IntActiQ96RL7, 10 interactors
STRINGi9606.ENSP00000353422

PTM databases

CarbonylDBiQ96RL7
GlyConnecti1889
iPTMnetiQ96RL7
PhosphoSitePlusiQ96RL7

Polymorphism and mutation databases

BioMutaiVPS13A
DMDMi71152975

Proteomic databases

EPDiQ96RL7
MaxQBiQ96RL7
PaxDbiQ96RL7
PeptideAtlasiQ96RL7
PRIDEiQ96RL7
ProteomicsDBi77984
77985 [Q96RL7-2]
77986 [Q96RL7-3]
77987 [Q96RL7-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000357409; ENSP00000349985; ENSG00000197969 [Q96RL7-2]
ENST00000360280; ENSP00000353422; ENSG00000197969 [Q96RL7-1]
ENST00000376634; ENSP00000365821; ENSG00000197969 [Q96RL7-4]
ENST00000376636; ENSP00000365823; ENSG00000197969 [Q96RL7-3]
ENST00000643348; ENSP00000493592; ENSG00000197969 [Q96RL7-2]
ENST00000644843; ENSP00000494809; ENSG00000197969 [Q96RL7-1]
ENST00000645632; ENSP00000496361; ENSG00000197969 [Q96RL7-4]
GeneIDi23230
KEGGihsa:23230
UCSCiuc004akp.5 human [Q96RL7-1]

Organism-specific databases

CTDi23230
DisGeNETi23230
EuPathDBiHostDB:ENSG00000197969.11
GeneCardsiVPS13A
GeneReviewsiVPS13A
HGNCiHGNC:1908 VPS13A
HPAiHPA021652
HPA021662
MalaCardsiVPS13A
MIMi200150 phenotype
605978 gene
neXtProtiNX_Q96RL7
OpenTargetsiENSG00000197969
Orphaneti2388 Choreoacanthocytosis
PharmGKBiPA26444
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1809 Eukaryota
COG5043 LUCA
GeneTreeiENSGT00410000025397
HOVERGENiHBG079736
InParanoidiQ96RL7
KOiK19525
OMAiAQRCIIE
OrthoDBiEOG091G001Z
PhylomeDBiQ96RL7
TreeFamiTF300316

Miscellaneous databases

ChiTaRSiVPS13A human
GeneWikiiVPS13A
GenomeRNAii23230
PROiPR:Q96RL7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197969 Expressed in 223 organ(s), highest expression level in intestine
ExpressionAtlasiQ96RL7 baseline and differential
GenevisibleiQ96RL7 HS

Family and domain databases

InterProiView protein in InterPro
IPR015412 Autophagy-rel_C
IPR009543 SHR-BD
IPR026847 VPS13
IPR031645 VPS13_C
IPR031642 VPS13_mid_rpt
IPR026854 VPS13_N
IPR031646 VPS13_N2
PANTHERiPTHR16166 PTHR16166, 1 hit
PfamiView protein in Pfam
PF09333 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, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiVP13A_HUMAN
AccessioniPrimary (citable) accession number: Q96RL7
Secondary accession number(s): Q5JSX9
, Q5JSY0, Q5VYR5, Q702P4, Q709D0, Q86YF8, Q96S61, Q9H995, Q9Y2J1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: July 19, 2005
Last modified: November 7, 2018
This is version 152 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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