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Q96RL7

- VP13A_HUMAN

UniProt

Q96RL7 - VP13A_HUMAN

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Protein

Vacuolar protein sorting-associated protein 13A

Gene

VPS13A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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

  1. cell death Source: UniProtKB-KW
  2. Golgi to endosome transport Source: UniProtKB
  3. locomotory behavior Source: Ensembl
  4. nervous system development Source: Ensembl
  5. protein localization Source: UniProtKB
  6. protein transport Source: UniProtKB-KW
  7. social behavior Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Protein 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
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:1908. VPS13A.

Subcellular locationi

GO - Cellular componenti

  1. dense core granule Source: Ensembl
  2. intracellular Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Choreoacanthocytosis (CHAC) [MIM:200150]: An 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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti90 – 901I → K in CHAC. 1 Publication
Corresponds to variant rs28939379 [ dbSNP | Ensembl ].
VAR_038420
Natural varianti1095 – 10951A → P in CHAC. 1 Publication
VAR_058116
Natural varianti1452 – 14521S → P in CHAC. 1 Publication
VAR_012803
Natural varianti2460 – 24601W → R in CHAC. 1 Publication
VAR_058120
Natural varianti2721 – 27211Y → C in CHAC. 1 Publication
VAR_038421

Keywords - Diseasei

Disease mutation, Epilepsy, Neurodegeneration

Organism-specific databases

MIMi200150. phenotype.
Orphaneti2388. Choreoacanthocytosis.
PharmGKBiPA26444.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 31743174Vacuolar protein sorting-associated protein 13APRO_0000106277Add
BLAST

Proteomic databases

MaxQBiQ96RL7.
PaxDbiQ96RL7.
PRIDEiQ96RL7.

PTM databases

PhosphoSiteiQ96RL7.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ96RL7.
ExpressionAtlasiQ96RL7. baseline and differential.
GenevestigatoriQ96RL7.

Organism-specific databases

HPAiHPA021652.
HPA021662.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi116835. 8 interactions.
IntActiQ96RL7. 7 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ96RL7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati212 – 24534TPR 1Add
BLAST
Repeati373 – 40634TPR 2Add
BLAST
Repeati537 – 57539TPR 3Add
BLAST
Repeati1256 – 128934TPR 4Add
BLAST
Repeati1291 – 132030TPR 5Add
BLAST
Repeati2009 – 204133TPR 6Add
BLAST
Repeati2568 – 260134TPR 7Add
BLAST
Repeati2717 – 275135TPR 8Add
BLAST
Repeati2860 – 289839TPR 9Add
BLAST
Repeati3086 – 311934TPR 10Add
BLAST

Sequence similaritiesi

Belongs to the VPS13 family.Curated
Contains 10 TPR repeats.Curated

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiCOG5043.
GeneTreeiENSGT00410000025397.
HOVERGENiHBG079736.
InParanoidiQ96RL7.
OMAiYAIHGIL.
OrthoDBiEOG7S4X52.
PhylomeDBiQ96RL7.
TreeFamiTF300316.

Family and domain databases

InterProiIPR015412. Autophagy-rel_C.
IPR026847. VPS13.
IPR026854. VPS13A_N.
IPR009543. VPSAP_dom.
[Graphical view]
PANTHERiPTHR16166. PTHR16166. 1 hit.
PfamiPF09333. ATG_C. 1 hit.
PF12624. Chorein_N. 1 hit.
PF06650. DUF1162. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

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

Sequence cautioni

The sequence AAH20576.1 differs from that shown. Reason: Intron retention.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1198 – 11981K → R in AAK61861. (PubMed:11381253)Curated
Sequence conflicti1850 – 18501L → R in AAH41852. (PubMed:15489334)Curated
Sequence conflicti1880 – 18801I → F in AAH41852. (PubMed:15489334)Curated
Sequence conflicti2281 – 22811G → E in BAB14337. (PubMed:14702039)Curated
Sequence conflicti2354 – 23541K → R in AAH41852. (PubMed:15489334)Curated
Sequence conflicti2413 – 24131T → R in BAB14337. (PubMed:14702039)Curated
Sequence conflicti2567 – 25671K → E in BAB14337. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti90 – 901I → K in CHAC. 1 Publication
Corresponds to variant rs28939379 [ dbSNP | Ensembl ].
VAR_038420
Natural varianti161 – 1611R → H in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036324
Natural varianti565 – 5651F → L.1 Publication
VAR_058114
Natural varianti898 – 8981V → A.1 Publication
Corresponds to variant rs78048112 [ dbSNP | Ensembl ].
VAR_058115
Natural varianti1095 – 10951A → P in CHAC. 1 Publication
VAR_058116
Natural varianti1452 – 14521S → P in CHAC. 1 Publication
VAR_012803
Natural varianti1490 – 14901R → K.1 Publication
Corresponds to variant rs76077278 [ dbSNP | Ensembl ].
VAR_058117
Natural varianti1587 – 15871Y → C.1 Publication
Corresponds to variant rs149840356 [ dbSNP | Ensembl ].
VAR_058118
Natural varianti1973 – 19731V → I.1 Publication
Corresponds to variant rs41289969 [ dbSNP | Ensembl ].
VAR_058119
Natural varianti2460 – 24601W → R in CHAC. 1 Publication
VAR_058120
Natural varianti2486 – 24861I → T.1 Publication
Corresponds to variant rs141138349 [ dbSNP | Ensembl ].
VAR_058121
Natural varianti2721 – 27211Y → C in CHAC. 1 Publication
VAR_038421
Natural varianti3172 – 31721P → L.1 Publication
VAR_058122

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1040 – 107839Missing in isoform 3. 1 PublicationVSP_014904Add
BLAST
Alternative sequencei3064 – 3174111VMENG…PSPSL → KIQFYREWIMTHSSSSDDDD DDDDDDESDLNH in isoform 2. 3 PublicationsVSP_006550Add
BLAST
Alternative sequencei3064 – 30696VMENGR → ASKSLI in isoform 4. 1 PublicationVSP_014905
Alternative sequencei3070 – 3174105Missing in isoform 4. 1 PublicationVSP_014906Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF337532 mRNA. Translation: AAK61861.1.
AB054005 mRNA. Translation: BAB59128.1.
AJ608769 mRNA. Translation: CAE75581.1.
AJ626859 mRNA. Translation: CAF25186.1.
AL158159, AL353710, AL359204 Genomic DNA. Translation: CAI40935.1.
AL158159, AL353710, AL359204 Genomic DNA. Translation: CAI40936.1.
AL353710, AL158159, AL359204 Genomic DNA. Translation: CAH74105.1.
AL353710, AL158159, AL359204 Genomic DNA. Translation: CAH74106.1.
AL359204, AL158159, AL353710 Genomic DNA. Translation: CAI39537.1.
AL359204, AL158159, AL353710 Genomic DNA. Translation: CAI39538.1.
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.662256.

Genome annotation databases

EnsembliENST00000357409; ENSP00000349985; ENSG00000197969. [Q96RL7-2]
ENST00000360280; ENSP00000353422; ENSG00000197969. [Q96RL7-1]
ENST00000376634; ENSP00000365821; ENSG00000197969. [Q96RL7-4]
ENST00000376636; ENSP00000365823; ENSG00000197969. [Q96RL7-3]
GeneIDi23230.
KEGGihsa:23230.
UCSCiuc004akp.4. human. [Q96RL7-4]
uc004akq.4. human. [Q96RL7-2]
uc004akr.3. human. [Q96RL7-1]
uc004aks.3. human. [Q96RL7-3]

Polymorphism databases

DMDMi71152975.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF337532 mRNA. Translation: AAK61861.1 .
AB054005 mRNA. Translation: BAB59128.1 .
AJ608769 mRNA. Translation: CAE75581.1 .
AJ626859 mRNA. Translation: CAF25186.1 .
AL158159 , AL353710 , AL359204 Genomic DNA. Translation: CAI40935.1 .
AL158159 , AL353710 , AL359204 Genomic DNA. Translation: CAI40936.1 .
AL353710 , AL158159 , AL359204 Genomic DNA. Translation: CAH74105.1 .
AL353710 , AL158159 , AL359204 Genomic DNA. Translation: CAH74106.1 .
AL359204 , AL158159 , AL353710 Genomic DNA. Translation: CAI39537.1 .
AL359204 , AL158159 , AL353710 Genomic DNA. Translation: CAI39538.1 .
AB023203 mRNA. Translation: BAA76830.1 .
BC020576 mRNA. Translation: AAH20576.1 . Sequence problems.
BC041852 mRNA. Translation: AAH41852.1 .
AK022967 mRNA. Translation: BAB14337.1 .
CCDSi CCDS47983.1. [Q96RL7-4 ]
CCDS55321.1. [Q96RL7-3 ]
CCDS6655.1. [Q96RL7-1 ]
CCDS6656.1. [Q96RL7-2 ]
RefSeqi NP_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 ]
UniGenei Hs.459790.
Hs.662256.

3D structure databases

ProteinModelPortali Q96RL7.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116835. 8 interactions.
IntActi Q96RL7. 7 interactions.

PTM databases

PhosphoSitei Q96RL7.

Polymorphism databases

DMDMi 71152975.

Proteomic databases

MaxQBi Q96RL7.
PaxDbi Q96RL7.
PRIDEi Q96RL7.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000357409 ; ENSP00000349985 ; ENSG00000197969 . [Q96RL7-2 ]
ENST00000360280 ; ENSP00000353422 ; ENSG00000197969 . [Q96RL7-1 ]
ENST00000376634 ; ENSP00000365821 ; ENSG00000197969 . [Q96RL7-4 ]
ENST00000376636 ; ENSP00000365823 ; ENSG00000197969 . [Q96RL7-3 ]
GeneIDi 23230.
KEGGi hsa:23230.
UCSCi uc004akp.4. human. [Q96RL7-4 ]
uc004akq.4. human. [Q96RL7-2 ]
uc004akr.3. human. [Q96RL7-1 ]
uc004aks.3. human. [Q96RL7-3 ]

Organism-specific databases

CTDi 23230.
GeneCardsi GC09P079793.
GeneReviewsi VPS13A.
HGNCi HGNC:1908. VPS13A.
HPAi HPA021652.
HPA021662.
MIMi 200150. phenotype.
605978. gene.
neXtProti NX_Q96RL7.
Orphaneti 2388. Choreoacanthocytosis.
PharmGKBi PA26444.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5043.
GeneTreei ENSGT00410000025397.
HOVERGENi HBG079736.
InParanoidi Q96RL7.
OMAi YAIHGIL.
OrthoDBi EOG7S4X52.
PhylomeDBi Q96RL7.
TreeFami TF300316.

Miscellaneous databases

GeneWikii VPS13A.
GenomeRNAii 23230.
NextBioi 44845.
PROi Q96RL7.
SOURCEi Search...

Gene expression databases

Bgeei Q96RL7.
ExpressionAtlasi Q96RL7. baseline and differential.
Genevestigatori Q96RL7.

Family and domain databases

InterProi IPR015412. Autophagy-rel_C.
IPR026847. VPS13.
IPR026854. VPS13A_N.
IPR009543. VPSAP_dom.
[Graphical view ]
PANTHERi PTHR16166. PTHR16166. 1 hit.
Pfami PF09333. ATG_C. 1 hit.
PF12624. Chorein_N. 1 hit.
PF06650. DUF1162. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING, VARIANTS CHAC LYS-90; PRO-1452 AND CYS-2721.
  2. "The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis."
    Ueno S., Maruki Y., Nakamura M., Tomemori Y., Kamae K., Tanabe H., Yamashita Y., Matsuda S., Kaneko S., Sano A.
    Nat. Genet. 28:121-122(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  3. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4).
    Tissue: Lymphoblast.
  4. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1638-3174 (ISOFORM 2).
    Tissue: Brain.
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1749-2127, NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1850-3174 (ISOFORM 2).
    Tissue: Placenta and Testis.
  7. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2200-3174.
    Tissue: Teratocarcinoma.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. Cited for: VARIANTS CHAC PRO-1095 AND ARG-2460, VARIANTS LEU-565; ALA-898; LYS-1490; CYS-1587; ILE-1973; THR-2486 AND LEU-3172.
  10. Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-161.

Entry informationi

Entry nameiVP13A_HUMAN
AccessioniPrimary (citable) accession number: Q96RL7
Secondary accession number(s): Q5JSX9
, Q5JSY0, Q5VYR5, Q702P4, Q709D0, Q86YF8, Q96S61, Q9H995, Q9Y2J1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: July 19, 2005
Last modified: October 29, 2014
This is version 120 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 9
    Human chromosome 9: 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

External Data

Dasty 3