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VPS13D - vacuolar protein sorting 13 homolog D Gene

Also Known as SCAR4; BLTP5D

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55187

About VPS13D

Cytogenetic location: 1p36.22-p36.21 Genomic coordinates (GRCh38): 1:12,230,030-12,512,047 (from NCBI)

This gene has 20 transcripts (splice variants), 189 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in skin (RPKM 12.9), thyroid (RPKM 9.2) and 25 other tissues.

Summary

This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. [provided by RefSeq, Jul 2008]

VPS13D Products (2)

mRNA	Protein	Name
NM_015378.4	NP_056193.2	intermembrane lipid transfer protein VPS13D isoform 1
NM_018156.4	NP_060626.2	intermembrane lipid transfer protein VPS13D isoform 2

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrion organization	IMP IMP: Inferred from mutant phenotype	29307555	GOA
involved in positive regulation of mitophagy	IMP IMP: Inferred from mutant phenotype	29307555	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

VPS13D Protein Structure

Chorein_N

UBA

SHR-BD

0
700
1400
2100
2800
3500
4388 a.a.

Protein Preferred Names	Protein Names
intermembrane lipid transfer protein VPS13D	bridge-like lipid transfer protein family member 5D

Related Diseases

Diseases	Alias
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
Spinocerebellar Ataxia 4	Spinocerebellar Ataxia Type 4 SCA4 Spinocerebellar Ataxia, Autosomal Dominant, With Sensory Axonal Neuropathy Spinocerebellar Ataxia Autosomal Dominant With Sensory Axonal Neuropathy Spinocerebellar Ataxia-4 Spinocerebellar Ataxias
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
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
Spasticity
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
Spastic Ataxia	Spax Ataxia, Spastic
Choreatic Disease	Chorea Hereditary Chorea
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15675	VPS13D Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20617	Vps13d Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27125	Vps13d Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	VPS13D	RGD	RGD:1308403
Macaca mulatta	VPS13D	VGNC	VGNC:100186
Mus musculus	VPS13D	MGD	MGI:2448530
Canis familiaris	VPS13D	VGNC	VGNC:48277
Bos taurus	VPS13D	VGNC	VGNC:55087
Felis catus	VPS13D	VGNC	VGNC:66957
Others	VPS13D	NCBI