GAPVD1 - GTPase activating protein and VPS9 domains 1 Gene

Also Known as RAP6; GAPEX5; GAPex-5

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 26130

About GAPVD1

Cytogenetic location: 9q33.3 Genomic coordinates (GRCh38): 9:125,261,826-125,367,207 (from NCBI)

This gene has 19 transcripts (splice variants), 214 orthologues, 6 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 13.1), thyroid (RPKM 9.8) and 25 other tissues.

Summary

Enables GTPase activating protein binding activity and guanyl-nucleotide exchange factor activity. Involved in regulation of protein transport. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

GAPVD1 Products (15)

mRNA Protein Name
NM_001282679.2 NP_001269608.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 1
NM_001282680.3 NP_001269609.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 2
NM_001282681.3 NP_001269610.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 3
NM_001330777.3 NP_001317706.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 5
NM_001330778.3 NP_001317707.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 6
NM_001354293.2 NP_001341222.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 7
NM_001354294.2 NP_001341223.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 2
NM_001354295.2 NP_001341224.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 2
NM_001354296.2 NP_001341225.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 2
NM_001354297.2 NP_001341226.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 3
NM_001354298.2 NP_001341227.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 8
NM_001354299.2 NP_001341228.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 2
NM_001354300.2 NP_001341229.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 3
NM_001354301.2 NP_001341230.1 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 2
NM_015635.4 NP_056450.2 GTPase-activating protein and VPS9 domain-containing protein 1 isoform 4

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables GTPase activating protein binding IMP
IMP: Inferred from mutant phenotype
16410077 GOA
enables guanyl-nucleotide exchange factor activity IMP
IMP: Inferred from mutant phenotype
16410077 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15161933 GOA
Biological Process GO Annotation Evidence References Source
involved in regulation of protein transport IMP
IMP: Inferred from mutant phenotype
16410077 GOA
Cellular Component GO Annotation Evidence References Source
located in cytosol IDA
IDA: Inferred from direct assay
16410077 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

GAPVD1 Protein Structure

RasGAP

RasGAP: GTPase-activator protein for Ras-like GTPase (153 - 352)

VPS9

VPS9: Vacuolar sorting protein 9 (VPS9) domain (1374 - 1475)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1478 a.a.
Protein Preferred Names Protein Names

GTPase-activating protein and VPS9 domain-containing protein 1

  • Rab5 exchange factor

GAPVD1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
GAPVD1 Q14C86 YWHAZ Homo sapiens P63104
Pull Down
15161933
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Genetic Steroid-Resistant Nephrotic Syndrome

  • Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

  • Genetic Srns

  • Hereditary Steroid-Resistant Nephrotic Syndrome

  • Familial Idiopathic Nephrotic Syndrome

  • Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive

  • Srn1
Hypertensive Encephalopathy

  • Encephalopathy, Hypertensive
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-RS05276 GAPVD1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus GAPVD1 RGD RGD:1307479
Macaca mulatta GAPVD1 VGNC VGNC:72767
Mus musculus GAPVD1 MGD MGI:1913941
Felis catus GAPVD1 VGNC VGNC:62461
Bos taurus GAPVD1 VGNC VGNC:29250
Canis familiaris GAPVD1 VGNC VGNC:41110
Others GAPVD1 NCBI