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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

VPS13A Gene

protein-coding GIFtS: 56
GCID: GC09P079793

vacuolar protein sorting 13 homolog A (S. cerevisiae)

(Previous names: chorea acanthocytosis, vacuolar protein sorting 13A (yeast)...)
(Previous symbol: CHAC)

Explore 17 diseases affiliated with
VPS13A via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Vacuolar Protein Sorting 13 Homolog A (S. Cerevisiae)¹ ²		Vacuolar Protein Sorting 13A (Yeast)¹
CHAC¹ ² ³ ⁵		CHOREIN²
KIAA0986¹ ³		Vacuolar Protein Sorting 13A²
Chorea-Acanthocytosis Protein² ³		Vacuolar Protein Sorting-Associated Protein 13A²
Chorea Acanthocytosis¹		Chorein³

External Ids:	HGNC: 1908¹	Entrez Gene: 23230²	Ensembl: ENSG00000197969⁷	OMIM: 605978⁵	UniProtKB: Q96RL7³

Export aliases for VPS13A gene to outside databases

Previous GC identifers: GC09P075249 GC09P077021 GC09P078982 GC09P049623

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for VPS13A:

The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to

endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder,

chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. (provided by RefSeq,

Jul 2008)

UniProtKB/Swiss-Prot: VP13A_HUMAN, Q96RL7

Function: May play a role in the control of protein cycling through the trans-Golgi network to early and late

endosomes, lysosomes and plasma membrane

Gene Wiki entry for VPS13A

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000009.11 NC_018920.1 NT_008470.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the VPS13A gene promoter:
HOXA9 HOXA9B Pbx1a AML1a Meis-1b YY1 N-Myc Max c-Myc Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: VPS13A promoter sequence

Search SABiosciences Chromatin IP Primers for VPS13A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VPS13A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q21 Ensembl cytogenetic band: 9q21.2 HGNC cytogenetic band: 9q21

VPS13A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VPS13A gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P079793: view genomic region (about GC identifiers)

Start:	79,792,269 bp from pter	End:	80,036,457 bp from pter
Size:	244,189 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: VP13A_HUMAN, Q96RL7 (See protein sequence)

Recommended Name: Vacuolar protein sorting-associated protein 13A

Size: 3174 amino acids; 360276 Da

Sequence caution: Sequence=AAH20576.1; Type=Miscellaneous discrepancy; Note=Intron retention;

Secondary accessions: Q5JSX9 Q5JSY0 Q5VYR5 Q702P4 Q709D0 Q86YF8 Q96S61 Q9H995 Q9Y2J1

Alternative splicing: 4 isoforms: Q96RL7-1 Q96RL7-2 Q96RL7-3 Q96RL7-4

Explore the universe of human proteins at neXtProt for VPS13A: NX_Q96RL7

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q96RL7

VPS13A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001018047.1 NP_001018048.1 NP_056001.1 NP_150648.2

ENSEMBL proteins:

ENSP00000365821 ENSP00000365823 ENSP00000353422 ENSP00000349985 ENSP00000444300

ENSP00000437478 ENSP00000414410 ENSP00000446020 ENSP00000365834 ENSP00000441840

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	Uscn Proteins for VPS13A

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	NAS	11381254

VPS13A for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for VPS13A

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

VPS13A for domains About GeneDecksing

4 InterPro domains/families:

IPR026847 VPS13

IPR015412 Autophagy-rel_C

IPR009543 VPSAP_dom

IPR026854 VPS13A_N

Graphical View of Domain Structure for InterPro Entry Q96RL7

ProtoNet protein and cluster: Q96RL7

1 Blocks protein family: IPB009543 Protein of unknown function DUF1162

UniProtKB/Swiss-Prot: VP13A_HUMAN, Q96RL7

Similarity: Belongs to the VPS13 family

Similarity: Contains 10 TPR repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: VP13A_HUMAN, Q96RL7

Function: May play a role in the control of protein cycling through the trans-Golgi network to early and late

endosomes, lysosomes and plasma membrane

miRNA Products:		OriGene 3'-UTR Clone (see all 4): VPS13A Browse MicroRNA Expression Plasmids
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		6 QIAGEN miScript miRNA Assays for microRNAs that regulate VPS13A:
		hsa-miR-499-5p hsa-miR-518a-5p hsa-miR-586 hsa-miR-3065-5p hsa-miR-3119 hsa-miR-3133
		SwitchGear 3'UTR luciferase reporter plasmid: VPS13A 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VPS13A

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	17474147

VPS13A for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Vps13a^tm1Asan for VPS13A
     3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Vps13a):

behavior/neurological

hematopoietic system

nervous system

VPS13A for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for VPS13A

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

5/107 Interacting proteins for VPS13A (Q96RL7^{1, 3} ENSP00000353422⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 107)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CALM1	P62158³	I2D: score=4
CALM2	P62158³	I2D: score=4
CALM3	P62158³	I2D: score=4
NCK1	P16333¹^,³, ENSP00000288986⁴	EBI-1752583,EBI-3448658 I2D: score=1 STRING: ENSP00000288986
ABL1	P00519³, ENSP00000361423⁴	I2D: score=1 STRING: ENSP00000361423

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006895	Golgi to endosome transport	NAS	11381253
GO:0007399	nervous system development	IEA	--
GO:0007626	locomotory behavior	IEA	--
GO:0008104	protein localization	NAS	11381254
GO:0008219	cell death	IEA	--

VPS13A for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

VPS13A for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for VPS13A
1 Novoseek chemical compound relationship for VPS13A gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
creatinine	33.4	1	18785241 (1)

Search CenterWatch for drugs/clinical trials and news about VPS13A / VP13A

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for VPS13A gene (4 alternative transcripts):

NM_001018037.1 NM_001018038.2 NM_015186.3 NM_033305.2

Unigene Cluster for VPS13A:

Vacuolar protein sorting 13 homolog A (S. cerevisiae)

Hs.459790 [show with all ESTs]

Unigene Representative Sequence: AF337532

14 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000376634(uc004akp.4) ENST00000376636(uc004aks.3) ENST00000360280(uc004akr.3)

ENST00000357409(uc010mpo.1 uc004akq.4) ENST00000545365 ENST00000471439

ENST00000423463 ENST00000493341 ENST00000419472(uc004akt.3) ENST00000539950

ENST00000355766 ENST00000484581 ENST00000376646 ENST00000467124

miRNA Products:		OriGene 3'-UTR Clone (see all 4): VPS13A Browse OriGene MicroRNA Expression Plasmids
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		6 QIAGEN miScript miRNA Assays for microRNAs that regulate VPS13A:
		hsa-miR-499-5p hsa-miR-518a-5p hsa-miR-586 hsa-miR-3065-5p hsa-miR-3119 hsa-miR-3133
		SwitchGear 3'UTR luciferase reporter plasmid: VPS13A 3' UTR sequence

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Additional cDNA sequence:

AB023203.1 AB054005.1 AF337532.1 AJ608769.1 AJ626859.1 AK000273.1 AK022967.1 AK027023.1

AK124024.1 BC020576.1 BC041852.1

10 DOTS entries:

DT.100775273 DT.310392 DT.100707617 DT.97795858 DT.440997 DT.97803626 DT.101981083 DT.40208402

DT.86851769 DT.87046558

24/142 AceView cDNA sequences (see all 142):

AW967417 BM126912 BQ185252 AI689898 AK124024 AW301542 CA406082 AI984315

BE348288 AW189007 AW301250 BM968882 AI287913 NM_015186 AA702210 BQ718291

AA573476 AI624765 AI202451 AK027023 BQ011213 AB054005 AJ430440 AA669464

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for VPS13A (see all 9) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19a	·	19b	^	20	^	21	^	22	^	23	^	24	^	25a	·
SP1:																									-
SP2:
SP3:
SP4:
SP5:

ExUns:	25b	^	26a	·	26b	^	27	^	28	^	29	^	30	^	31	^	32a	·	32b	^	33	^	34
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for VPS13A

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

VPS13A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAATAAACAC

About this image

VPS13A expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Cap Mesenchyme

Cap Mesenchyme Cells

Kidney

Kidney

S-shaped Body

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See VPS13A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for VPS13A

SOURCE GeneReport for Unigene cluster: Hs.459790

UniProtKB/Swiss-Prot: VP13A_HUMAN, Q96RL7

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

SABiosciences Expression via Pathway-Focused PCR Array including VPS13A:

Epithelial to Mesenchymal Transition (EMT) in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for VPS13A gene from 9/32 species (see all 32) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	VPS13A⁶	Uncharacterized protein	63(a)	1 ↔ 1	Z(37182145-37267562)
lizard (Anolis carolinensis)	Reptilia	VPS13A⁶	--	62(a)	1 ↔ 1	2(45719732-45908820)
tropical clawed frog (Xenopus tropicalis)	Amphibia	BX758733.1²	--	73.73(n)		BX758733.1
zebrafish (Danio rerio)	Actinopterygii	chac²	chorea acanthocytosis	74.43(n)		378837 AF533660.1
fruit fly (Drosophila melanogaster)	Insecta	Vps13¹	Vacuolar protein sorting 13	45.22(n) 32.63(a)		35693 NM_136455.2 NP_610299.2
worm (Caenorhabditis elegans)	Secernentea	T08G11.1¹	Protein T08G11.1	46.66(n) 32.2(a)		172705 NM_171842.2 NP_740900.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	VPS13(YLL040C)⁴ VPS13¹	Protein of unknown function; heterooligomeric or homooligomeric more⁴ Vps13p¹	42.43(n)¹ 25.79(a)¹		12(63645-54211)⁴ 850619^{1, 4} NP_013060.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	AT1G48090⁶ AT4G17140⁶	calcium-dependent lipid-binding-like protein pleckstrin homology (PH) domain-containing protein...	10(a) 10(a)	possible ortholog possible ortholog	1(17732010-17758444) 4(9613330-9636873)
rice (Oryza sativa)	Liliopsida	-- -- (see all 3)	expressed protein (see all 3)	9(a) 15(a) (see all 3)	possible ortholog possible ortholog (see all 3)	2(15925427-15944630) 2(15951138-15971311)

ENSEMBL Gene Tree for VPS13A (if available)
TreeFam Gene Tree for VPS13A (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for VPS13A gene

VPS13D² VPS13C²

1 SIMAP similar gene for VPS13A using alignment to 5 protein entries: VP13A_HUMAN (see all proteins):

VPS13C

VPS13A for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs73651494^1,2	C,	--	49621860(+)	`AAGACG/AAAGAG`	4	--	us2k¹		2	WA	120
rs17723855^1,2	C,F,H,	--	49622311(+)	`ACTTAT/CTTCTA`	4	--	us2k¹		26	NA NS EA	2988
rs73464017^1,2	C,	--	49622534(+)	`GCAGCT/CACTGT`	4	--	us2k¹		2	WA	120
rs73464019^1,2	C,	--	49622746(+)	`TGACCG/TTGCAC`	4	--	us2k¹		1	WA	2
rs7033498^1,2	C,F,H,	--	49622807(+)	`CCTCAT/CAAAGG`	4	--	us2k¹		10	NS EA NA WA	1298
rs72740387^1,2	C,	--	49622892(+)	`ACTTGC/TAAAGG`	4	--	us2k¹		2	NA	122
rs12379540^1,2	H	--	49623091(+)	`CCTCAG/AGCCTT`	4	--	us2k¹		4	NS EA	420
rs12340377^1,2	C,F,	--	49623475(+)	`CCACCC/GTGTAA`	4	--	us2k¹		6	NA CSA WA EA	364
rs12349251^1,2	C,F,	--	49623531(+)	`GCGACG/CGGGCT`	4	--	us2k¹		6	NA CSA WA EA	364
rs12349389^1,2	C,	--	49623894(+)	`GCGTCG/CTGAGA`	4	--	ut5¹		4	NA WA EA	360

HapMap Linkage Disequilibrium report for VPS13A (79792269 - 80036457 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for VPS13A
1 CNV: 100675
1 Inversion: 59870
Human Gene Mutation Database (HGMD): VPS13A

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing VPS13A

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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VPS13A for disorders           About GeneDecksing

OMIM gene information: 605978
OMIM disorders: 200150
UniProtKB/Swiss-Prot: VP13A_HUMAN, Q96RL7

Defects in VPS13A are the cause of chorea-acanthocytosis (CHAC) [MIM:200150]; also known as Levine-Critchley

syndrome. CHAC is 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

17 diseases for VPS13A: About MalaCards

acanthocytosis chorea lingual-facial-buccal dyskinesia levine-critchley syndrome

hallervorden-spatz syndrome choreoacanthocytosis mcleod syndrome neuroacanthocytosis

axonal neuropathy hypobetalipoproteinemia abetalipoproteinemia peripheral neuropathy

neurodegenerative disease huntington's disease neuropathy neurodegeneration

colorectal cancer

2 diseases from the University of Copenhagen DISEASES database for VPS13A:

chorea-acanthocytosis Huntington's disease

4 Novoseek disease relationships for VPS13A gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
chacs	99	40	12404112 (7), 14663054 (4), 17345646 (2), 17070500 (2) (see all 14)
chorea-acanthocytosis	98.5	14	14663054 (2), 12404112 (2), 15293285 (1), 15498460 (1) (see all 8)
huntington disease	66.8	3	17345646 (1), 15293285 (1), 11761473 (1)
neurodegenerative diseases	56.8	4	15914612 (1), 17070500 (1), 17673232 (1)

GeneTests: VPS13A

Chorea-Acanthocytosis

Human Genome Epidemiology (HuGE) Navigator: VPS13A (2 documents)

Export disorders for VPS13A gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for VPS13A gene, integrated from 9 sources (see all 45):
(articles sorted by number of sources associating them with VPS13A)

Utopia: connect your pdf to the dynamic
world of online information

A conserved sorting-associated protein is mutant in chorea-acanthocytosis. (PubMed id 11381253)^{1, 2, 3} Rampoldi L....Monaco A.P. (2001)
Analysis of the human VPS13 gene family. (PubMed id 15498460)^{1, 2, 9} Velayos-Baeza A....Monaco A.P. (2004)
The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. (PubMed id 11381254)^{1, 2, 9} Ueno S.... Sano A. (2001)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)^{1, 2} Humphray S.J.... Dunham I. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
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. (PubMed id 10231032)^{1, 2} Nagase T.... Ohara O. (1999)
Chorea-acanthocytosis: genetic linkage to chromosome 9q21. (PubMed id 9382101)^{1, 3} Rubio J.P....Monaco A.P. (1997)
Mutational spectrum of the CHAC gene in patients with chorea- acanthocytosis. (PubMed id 12404112)^{2, 9} Dobson-Stone C.... Monaco A.P. (2002)
Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree. (PubMed id 17673232)^{1, 9} Ichiba M....Sano A. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 23230	HGNC: 1908	AceView: VPS13A	Ensembl:ENSG00000197969	euGenes: HUgn23230
ECgene: VPS13A	H-InvDB: VPS13A

(According to HUGE)
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HUGE: KIAA0986

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for VPS13A	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/VPS13A

Intellectual Property for VPS13A gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for VPS13A gene:
Search GeneIP for patents involving VPS13A

GeneCards and IP:
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VPS13A Gene

vacuolar protein sorting 13 homolog A (S. cerevisiae)

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VPS13A Gene

vacuolar protein sorting 13 homolog A (S. cerevisiae)

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