2. Gene
  3. VPS13D - vacuolar protein sorting 13 homolog D Gene

VPS13D - vacuolar protein sorting 13 homolog D Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as SCAR4; BLTP5D

Gene ID: 55187 | Gene type: protein coding

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 Reference 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

Chorein_N: N-terminal region of Chorein or VPS13 (2 - 117)

UBA

UBA: UBA/TS-N domain (2639 - 2673)

SHR-BD

SHR-BD: SHR-binding domain of vacuolar-sorting associated protein 13 (3276 - 3559)

  • 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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS15675 VPS13D Human Pre-designed siRNA Set A Pre-designed Sets / 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