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Q96RL7

- VP13A_HUMAN

UniProt

Q96RL7 - VP13A_HUMAN

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
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 2 (19 Jul 2005)
      Previous versions | rss
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    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 - Molecular functioni

    1. protein binding Source: IntAct

    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

    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

    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

    ArrayExpressiQ96RL7.
    BgeeiQ96RL7.
    GenevestigatoriQ96RL7.

    Organism-specific databases

    HPAiHPA021652.
    HPA021662.

    Interactioni

    Binary interactionsi

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

    Protein-protein interaction databases

    BioGridi116835. 2 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.
    HOVERGENiHBG079736.
    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

    MVFESVVVDV LNRFLGDYVV DLDTSQLSLG IWKGAVALKN LQIKENALSQ     50
    LDVPFKVKVG HIGNLKLIIP WKNLYTQPVE AVLEEIYLLI VPSSRIKYDP 100
    LKEEKQLMEA KQQELKRIEE AKQKVVDQEQ HLPEKQDTFA EKLVTQIIKN 150
    LQVKISSIHI RYEDDITNRD KPLSFGISLQ NLSMQTTDQY WVPCLHDETE 200
    KLVRKLIRLD NLFAYWNVKS QMFYLSDYDN SLDDLKNGIV NENIVPEGYD 250
    FVFRPISANA KLVMNRRSDF DFSAPKINLE IELHNIAIEF NKPQYFSIME 300
    LLESVDMMAQ NLPYRKFKPD VPLHHHAREW WAYAIHGVLE VNVCPRLWMW 350
    SWKHIRKHRQ KVKQYKELYK KKLTSKKPPG ELLVSLEELE KTLDVFNITI 400
    ARQTAEVEVK KAGYKIYKEG VKDPEDNKGW FSWLWSWSEQ NTNEQQPDVQ 450
    PETLEEMLTP EEKALLYEAI GYSETAVDPT LLKTFEALKF FVHLKSMSIV 500
    LRENHQKPEL VDIVIEEFST LIVQRPGAQA IKFETKIDSF HITGLPDNSE 550
    KPRLLSSLDD AMSLFQITFE INPLDETVSQ RCIIEAEPLE IIYDARTVNS 600
    IVEFFRPPKE VHLAQLTAAT LTKLEEFRSK TATGLLYIIE TQKVLDLKIN 650
    LKASYIIVPQ DGIFSPTSNL LLLDLGHLKV TSKSRSELPD VKQGEANLKE 700
    IMDRAYDSFD IQLTSVQLLY SRVGDNWREA RKLSVSTQHI LVPMHFNLEL 750
    SKAMVFMDVR MPKFKIYGKL PLISLRISDK KLQGIMELIE SIPKPEPVTE 800
    VSAPVKSFQI QTSTSLGTSQ ISQKIIPLLE LPSVSEDDSE EEFFDAPCSP 850
    LEEPLQFPTG VKSIRTRKLQ KQDCSVNMTT FKIRFEVPKV LIEFYHLVGD 900
    CELSVVEILV LGLGAEIEIR TYDLKANAFL KEFCLKCPEY LDENKKPVYL 950
    VTTLDNTMED LLTLEYVKAE KNVPDLKSTY NNVLQLIKVN FSSLDIHLHT 1000
    EALLNTINYL HNILPQSEEK SAPVSTTETE DKGDVIKKLA LKLSTNEDII 1050
    TLQILAELSC LQIFIQDQKC NISEIKIEGL DSEMIMRPSE TEINAKLRNI 1100
    IVLDSDITAI YKKAVYITGK EVFSFKMVSY MDATAGSAYT DMNVVDIQVN 1150
    LIVGCIEVVF VTKFLYSILA FIDNFQAAKQ ALAEATVQAA GMAATGVKEL 1200
    AQRSSRMALD INIKAPVVVI PQSPVSENVF VADFGLITMT NTFHMITESQ 1250
    SSPPPVIDLI TIKLSEMRLY RSRFINDAYQ EVLDLLLPLN LEVVVERNLC 1300
    WEWYQEVPCF NVNAQLKPME FILSQEDITT IFKTLHGNIW YEKDGSASPA 1350
    VTKDQYSATS GVTTNASHHS GGATVVTAAV VEVHSRALLV KTTLNISFKT 1400
    DDLTMVLYSP GPKQASFTDV RDPSLKLAEF KLENIISTLK MYTDGSTFSS 1450
    FSLKNCILDD KRPHVKKATP RMIGLTVGFD KKDMMDIKYR KVRDGCVTDA 1500
    VFQEMYICAS VEFLQTVANV FLEAYTTGTA VETSVQTWTA KEEVPTQESV 1550
    KWEINVIIKN PEIVFVADMT KNDAPALVIT TQCEICYKGN LENSTMTAAI 1600
    KDLQVRACPF LPVKRKGKIT TVLQPCDLFY QTTQKGTDPQ VIDMSVKSLT 1650
    LKVSPVIINT MITITSALYT TKETIPEETA SSTAHLWEKK DTKTLKMWFL 1700
    EESNETEKIA PTTELVPKGE MIKMNIDSIF IVLEAGIGHR TVPMLLAKSR 1750
    FSGEGKNWSS LINLHCQLEL EVHYYNEMFG VWEPLLEPLE IDQTEDFRPW 1800
    NLGIKMKKKA KMAIVESDPE EENYKVPEYK TVISFHSKDQ LNITLSKCGL 1850
    VMLNNLVKAF TEAATGSSAD FVKDLAPFMI LNSLGLTISV SPSDSFSVLN 1900
    IPMAKSYVLK NGESLSMDYI RTKDNDHFNA MTSLSSKLFF ILLTPVNHST 1950
    ADKIPLTKVG RRLYTVRHRE SGVERSIVCQ IDTVEGSKKV TIRSPVQIRN 2000
    HFSVPLSVYE GDTLLGTASP ENEFNIPLGS YRSFIFLKPE DENYQMCEGI 2050
    DFEEIIKNDG ALLKKKCRSK NPSKESFLIN IVPEKDNLTS LSVYSEDGWD 2100
    LPYIMHLWPP ILLRNLLPYK IAYYIEGIEN SVFTLSEGHS AQICTAQLGK 2150
    ARLHLKLLDY LNHDWKSEYH IKPNQQDISF VSFTCVTEME KTDLDIAVHM 2200
    TYNTGQTVVA FHSPYWMVNK TGRMLQYKAD GIHRKHPPNY KKPVLFSFQP 2250
    NHFFNNNKVQ LMVTDSELSN QFSIDTVGSH GAVKCKGLKM DYQVGVTIDL 2300
    SSFNITRIVT FTPFYMIKNK SKYHISVAEE GNDKWLSLDL EQCIPFWPEY 2350
    ASSKLLIQVE RSEDPPKRIY FNKQENCILL RLDNELGGII AEVNLAEHST 2400
    VITFLDYHDG AATFLLINHT KNELVQYNQS SLSEIEDSLP PGKAVFYTWA 2450
    DPVGSRRLKW RCRKSHGEVT QKDDMMMPID LGEKTIYLVS FFEGLQRIIL 2500
    FTEDPRVFKV TYESEKAELA EQEIAVALQD VGISLVNNYT KQEVAYIGIT 2550
    SSDVVWETKP KKKARWKPMS VKHTEKLERE FKEYTESSPS EDKVIQLDTN 2600
    VPVRLTPTGH NMKILQPHVI ALRRNYLPAL KVEYNTSAHQ SSFRIQIYRI 2650
    QIQNQIHGAV FPFVFYPVKP PKSVTMDSAP KPFTDVSIVM RSAGHSQISR 2700
    IKYFKVLIQE MDLRLDLGFI YALTDLMTEA EVTENTEVEL FHKDIEAFKE 2750
    EYKTASLVDQ SQVSLYEYFH ISPIKLHLSV SLSSGREEAK DSKQNGGLIP 2800
    VHSLNLLLKS IGATLTDVQD VVFKLAFFEL NYQFHTTSDL QSEVIRHYSK 2850
    QAIKQMYVLI LGLDVLGNPF GLIREFSEGV EAFFYEPYQG AIQGPEEFVE 2900
    GMALGLKALV GGAVGGLAGA ASKITGAMAK GVAAMTMDED YQQKRREAMN 2950
    KQPAGFREGI TRGGKGLVSG FVSGITGIVT KPIKGAQKGG AAGFFKGVGK 3000
    GLVGAVARPT GGIIDMASST FQGIKRATET SEVESLRPPR FFNEDGVIRP 3050
    YRLRDGTGNQ MLQVMENGRF AKYKYFTHVM INKTDMLMIT RRGVLFVTKG 3100
    TFGQLTCEWQ YSFDEFTKEP FIVHGRRLRI EAKERVKSVF HAREFGKIIN 3150
    FKTPEDARWI LTKLQEAREP SPSL 3174
    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. 2 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.
    HOVERGENi HBG079736.
    OMAi YAIHGIL.
    OrthoDBi EOG7S4X52.
    PhylomeDBi Q96RL7.
    TreeFami TF300316.

    Miscellaneous databases

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

    Gene expression databases

    ArrayExpressi Q96RL7.
    Bgeei Q96RL7.
    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

    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 1, 2014
    This is version 119 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