VPS13A - vacuolar protein sorting 13 homolog A Gene

Also Known as CHAC; BLTP5A; CHOREIN

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23230

About VPS13A

Cytogenetic location: 9q21.2 Genomic coordinates (GRCh38): 9:77,177,534-77,421,537 (from NCBI)

This gene has 13 transcripts (splice variants), 221 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 7.5), skin (RPKM 6.4) and 25 other tissues.

Summary

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]

VPS13A Products (4)

mRNA	Protein	Name
NM_001018037.2	NP_001018047.1	intermembrane lipid transfer protein VPS13A isoform C
NM_001018038.3	NP_001018048.1	intermembrane lipid transfer protein VPS13A isoform D
NM_015186.4	NP_056001.1	intermembrane lipid transfer protein VPS13A isoform B
NM_033305.3	NP_150648.2	intermembrane lipid transfer protein VPS13A isoform A

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17474147	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within autophagy	IMP IMP: Inferred from mutant phenotype	25996471	GOA
involved in lysosomal protein catabolic process	IMP IMP: Inferred from mutant phenotype	30709847	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	30093493	GOA
located in endosome membrane	IDA IDA: Inferred from direct assay	30709847	GOA
located in lipid droplet	IDA IDA: Inferred from direct assay	30093493	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	30709847	GOA
located in mitochondria-associated endoplasmic reticulum membrane contact site	IDA IDA: Inferred from direct assay	30093493	GOA
located in mitochondrial membrane	IDA IDA: Inferred from direct assay	30093493	GOA
located in mitochondrial outer membrane	IDA IDA: Inferred from direct assay	30741634	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

VPS13A Protein Structure

Chorein_N

SHR-BD

ATG_C

0
500
1000
1500
2000
2500
3000
3174 a.a.

Protein Preferred Names	Protein Names
intermembrane lipid transfer protein VPS13A	bridge-like lipid transfer protein family member 5A

VPS13A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	VPS13A	Q96RL7	NCK1	Homo sapiens	P16333	Peptide Array	17474147

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Choreoacanthocytosis	Chorea-Acanthocytosis CHAC Acanthocytosis With Neurologic Disorder Levine-Critchley Syndrome Choreaacanthocytosis Chorea Acanthocytosis Neuroacanthocytosis Levine-Critchley Syndrome, Formerly Neuroacanthocytosis, Formerly Choreo-Acanthocytosis Acanthocytosis Chorea Chorea Acanthocytosis Syndrome
Neuroacanthocytosis	Neuroacanthocytosis Syndrome
Curly Hair-Acral Keratoderma-Caries Syndrome	Chacs Chac Syndrome
Mcleod Syndrome	Mcleod Neuroacanthocytosis Syndrome MLS X-Linked Mcleod Syndrome Mcleod Phenotype Neuroacanthocytosis, Mcleod Type Mcleod Syndrome With Or Without Chronic Granulomatous Disease MCLDS Mcleod Type Neuroacanthocytosis Mcleod Syndrome With Chronic Granulomatous Disease Neuroacanthocytosis Mcleod Type Blood Group Deletion Syndrome
Lingual-Facial-Buccal Dyskinesia	Orofacial Dyskinesia Oro-Facial Dyskinesia Dyskinesias
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Huntington Disease-Like 2	HDL2 Huntington'S Disease-Like 2 Huntington Disease-Like, Type 2
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Cohen Syndrome	Pepper Syndrome COH1 Hypotonia, Obesity, And Prominent Incisors Coh Chs1, Formerly Norio Syndrome Obesity-Hypotonia Syndrome Prominent Incisors-Obesity-Hypotonia Syndrome Chs1 Hypotonia-Obesity-Prominent Incisors Stage 4s Neuroblastoma
Huntington Disease-Like 1	HDL1 Huntington-Like Neurodegenerative Disorder 1 Hln1 Huntington'S Disease-Like 1 Early-Onset Prion Disease With Prominent Psychiatric Features Huntington-Like Neurodegenerative Disorder, Autosomal Dominant Prion Disease, Early-Onset, With Prominent Psychiatric Features Autosomal Dominant Huntington-Like Neurodegenerative Disorder Huntington Disease-Like, Type 1
Choreatic Disease	Chorea Hereditary Chorea
Oromandibular Dystonia
Neurodegeneration With Brain Iron Accumulation 1	Pantothenate Kinase-Associated Neurodegeneration Pkan NBIA1 Hallervorden-Spatz Disease Hallervorden-Spatz Syndrome Pigmentary Pallidal Degeneration Neuroaxonal Dystrophy, Late Infantile Neurodegeneration With Brain Iron Accumulation Type 1 Classic Pantothenate Kinase-Associated Neurodegeneration Pkan Neuroaxonal Dystrophy, Juvenile-Onset Brain Iron Accumulation Type I Syndrome Nbia Neurodegeneration With Brain Iron Accumulation Nbia1, Classic Form Neurodegeneration With Brain Iron Accumulation Type 1, Classic Form Pkan, Classic Form Atypical Pantothenate Kinase-Associated Neurodegeneration Nbia1, Atypical Form Neurodegeneration With Brain Iron Accumulation Type 1, Atypical Form Pkan, Atypical Form Hss Pkan Neuroaxonal Dystrophy Juvenile-Onset Neurodegeneration, With Brain Iron Accumulation, Type 1
Huntington Disease	Huntington'S Disease Huntington Chorea Huntington'S Chorea HD Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea
Spinocerebellar Ataxia, Autosomal Recessive 4	SCAR4 Scasi Spinocerebellar Ataxia With Saccadic Intrusions Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome Spinocerebellar Ataxia 24 Autosomal Recessive Spinocerebellar Ataxia 4 Sca24 Spinocerebellar Ataxia 24, Formerly Sca24, Formerly Spinocerebellar Ataxia Autosomal Recessive 4 Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Neurodegeneration With Brain Iron Accumulation	Nbia Neurodegeneration With Brain Iron Accumulation Disorders Neurodegeneration, With Brain Iron Accumulation
Bruxism	Sleep Bruxism Sleep-Related Bruxism Bruxism - Teeth Grinding Grinding Teeth Sleep Related Bruxism Teeth Grinding Sleep Related Teeth Grinding
Isolated Elevated Serum Creatine Phosphokinase Levels	Elevated Serum Cpk Idiopathic Hyperckemia Isolated Hyperckemia Elevated Serum Creatine Phosphokinase H-Ck Idiopathic Persistent Elevation Of Serum Creatine Kinase
Movement Disease	Movement Disorders Movement Disorder
Spastic Ataxia	Spax Ataxia, Spastic
Myopathy	Muscular Diseases Myopathies
Aceruloplasminemia	Cerebellar Ataxia Hypoceruloplasminemia Hemosiderosis, Systemic, Due To Aceruloplasminemia Familial Apoceruloplasmin Deficiency Hereditary Ceruloplasmin Deficiency Deficiency Of Ferroxidase Hypoceruloplasminemia, Hereditary Ceruloplasmin Deficiency Systemic Hemosiderosis Due To Aceruloplasminemia ACERULOP
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15672	VPS13A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	VPS13A	VGNC	VGNC:48274
Felis catus	VPS13A	VGNC	VGNC:66954
Rattus norvegicus	VPS13A	RGD	RGD:1311340
Mus musculus	VPS13A	MGD	MGI:2444304
Macaca mulatta	VPS13A	VGNC	VGNC:79180
Others	VPS13A	NCBI