2. Gene
  3. GAPVD1 - GTPase activating protein and VPS9 domains 1 Gene

GAPVD1 - GTPase activating protein and VPS9 domains 1 Gene

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

Also known as RAP6; GAPEX5; GAPex-5

Gene ID: 26130 | Gene type: protein coding

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

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

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS05276 GAPVD1 Human Pre-designed siRNA Set A / 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