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Q96RL7

- VP13A_HUMAN

UniProt

Q96RL7 - VP13A_HUMAN

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Protein

Vacuolar protein sorting-associated protein 13A

Gene
VPS13A, CHAC, KIAA0986
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 - 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
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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.

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.
Contains 10 TPR repeats.

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.

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. VSP_014904Add
BLAST
Alternative sequencei3064 – 3174111VMENG…PSPSL → KIQFYREWIMTHSSSSDDDD DDDDDDESDLNH in isoform 2. VSP_006550Add
BLAST
Alternative sequencei3064 – 30696VMENGR → ASKSLI in isoform 4. VSP_014905
Alternative sequencei3070 – 3174105Missing in isoform 4. VSP_014906Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1198 – 11981K → R in AAK61861. 1 Publication
Sequence conflicti1850 – 18501L → R in AAH41852. 1 Publication
Sequence conflicti1880 – 18801I → F in AAH41852. 1 Publication
Sequence conflicti2281 – 22811G → E in BAB14337. 1 Publication
Sequence conflicti2354 – 23541K → R in AAH41852. 1 Publication
Sequence conflicti2413 – 24131T → R in BAB14337. 1 Publication
Sequence conflicti2567 – 25671K → E in BAB14337. 1 Publication

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

« 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: July 9, 2014
This is version 118 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

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