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Aliases for GAPVD1 Gene
Aliases for GAPVD1 Gene
External Ids for GAPVD1 Gene
- HGNC: 23375
- NCBI Entrez Gene: 26130
- Ensembl: ENSG00000165219
- OMIM®: 611714
- UniProtKB/Swiss-Prot: Q14C86
Previous GeneCards Identifiers for GAPVD1 Gene
- GC09P125104
- GC09P127063
- GC09P128024
- GC09P097636
- GC09P125242
Summaries for GAPVD1 Gene
GeneCards Summary for GAPVD1 Gene
GAPVD1 (GTPase Activating Protein And VPS9 Domains 1) is a Protein Coding gene. Diseases associated with GAPVD1 include Genetic Steroid-Resistant Nephrotic Syndrome. Among its related pathways are Vesicle-mediated transport and Clathrin-mediated endocytosis. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and GTPase activating protein binding. An important paralog of this gene is RIN2.
UniProtKB/Swiss-Prot Summary for GAPVD1 Gene
-
Acts both as a GTPase-activating protein (GAP) and a guanine nucleotide exchange factor (GEF), and participates in various processes such as endocytosis, insulin receptor internalization or LC2A4/GLUT4 trafficking. Acts as a GEF for the Ras-related protein RAB31 by exchanging bound GDP for free GTP, leading to regulate LC2A4/GLUT4 trafficking. In the absence of insulin, it maintains RAB31 in an active state and promotes a futile cycle between LC2A4/GLUT4 storage vesicles and early endosomes, retaining LC2A4/GLUT4 inside the cells. Upon insulin stimulation, it is translocated to the plasma membrane, releasing LC2A4/GLUT4 from intracellular storage vesicles. Also involved in EGFR trafficking and degradation, possibly by promoting EGFR ubiquitination and subsequent degradation by the proteasome. Has GEF activity for Rab5 and GAP activity for Ras.
Additional gene information for GAPVD1 Gene
- HGNC (23375)
- NCBI Entrez Gene (26130)
- Ensembl (ENSG00000165219)
- OMIM® (611714)
- UniProtKB/Swiss-Prot (Q14C86)
- Open Targets Platform(ENSG00000165219)
- Search for GAPVD1 at DataMed
- Search for GAPVD1 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GAPVD1 Gene
Genomics for GAPVD1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for GAPVD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around GAPVD1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GAPVD1
- Top Transcription factor binding sites by QIAGEN in the GAPVD1 gene promoter:
-
- AP-1
- ATF-2
- ATF6
- CREB
- Egr-4
- MRF-2
- Nkx2-5
- Olf-1
- STAT5A
Genomic Locations for GAPVD1 Gene
Latest Assembly
- chr9:125,261,794-125,367,207
- (GRCh38/hg38)
- Size:
- 105,414 bases
- Orientation:
- Plus strand
Previous Assembly
- chr9:128,024,105-128,129,486
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 105,382 bases
- Orientation:
- Plus strand
- chr9:128,024,073-128,129,486
- (GRCh37/hg19 by Ensembl)
- Size:
- 105,414 bases
- Orientation:
- Plus strand
Genomic View for GAPVD1 Gene
Genes around GAPVD1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9q33.3 by HGNC
- 9q33.3 by Entrez Gene
- 9q33.3 by Ensembl
GAPVD1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for GAPVD1 Gene
Proteins for GAPVD1 Gene
-
Protein details for GAPVD1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q14C86-GAPD1_HUMAN
- Recommended name:
- GTPase-activating protein and VPS9 domain-containing protein 1
- Protein Accession:
- Q14C86
- A8MYK3
- B0QZ62
- B0QZ63
- B0QZ64
- Q14C76
- Q2Q1W1
- Q8ND92
- Q8WU86
- Q96CZ4
- Q9NXQ1
- Q9P207
- Q9Y4N0
Protein attributes for GAPVD1 Gene
- Size:
- 1478 amino acids
- Molecular mass:
- 164980 Da
- Quaternary structure:
-
- Interacts with TRIP10/CIP4 (By similarity). Interacts with RAB5A.
- SequenceCaution:
-
- Sequence=AAH21119.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH21119.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAA90959.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA90959.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA96045.3; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for GAPVD1 Gene
Post-translational modifications for GAPVD1 Gene
Other Protein References for GAPVD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_005251961.1
- XP_011516801.1
- XP_011516802.1
- XP_011516804.1
- XP_011516808.1
- XP_011516809.1
- XP_016870089.1
- XP_016870095.1
- XP_016870098.1
- XP_024303269.1
- XP_024303270.1
- XP_024303271.1
- NP_001269608.1
- NP_001269609.1
- NP_001269610.1
- NP_001317706.1
- NP_001317707.1
- NP_001341222.1
- NP_001341223.1
- NP_001341224.1
- NP_001341225.1
- NP_001341226.1
- NP_001341227.1
- NP_001341228.1
- NP_001341229.1
- NP_001341230.1
- NP_056450.2
Antibodies for research
- LifeSpan BioSciences GAPVD1 Antibody (LS-B14074) and GAPVD1 Antibody (LS-B14075)
-
Custom Antibody ServicesOriGene Antibodies for GAPVD1
- Novus Biologicals Antibodies for GAPVD1
-
Abcam antibodies for GAPVD1
- Invitrogen Antibodies for GAPVD1 (AFLGC-Gapvd1)
-
Biorbyt antibodies for GAPVD1
-
Custom Antibody ServicesProSci Antibodies for GAPVD1
Protein products for research
-
OriGene Purified Proteins for GAPVD1
- Search Origene for MassSpec and Protein Over-expression Lysates for GAPVD1
- Origene Custom Protein Services for GAPVD1
- antibodies-online: Show 3 available GAPVD1 Proteins ranked by validation data
- Compare Top GAPVD1 Proteins
-
Quality Products:
-
Abcam proteins for GAPVD1
Assay products for research
- antibodies-online: Show 5 available GAPVD1 Elisa Kits ranked by validation data
- Compare Top GAPVD1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for GAPVD1 Gene
Domains & Families for GAPVD1 Gene
Gene Families for GAPVD1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for GAPVD1 Gene
- InterPro:
- Blocks:
-
- Ras GTPase-activating protein
- ProtoNet:
Suggested Antigen Peptide Sequences for GAPVD1 Gene
- GenScript: Design optimal peptide antigens:
-
- GTPase activating protein and VPS9 domains 1 (B0QZ65_HUMAN)
- GTPase activating protein and VPS9 domains 1 (B0QZ66_HUMAN)
- GTPase activating protein and VPS9 domains 1 (B0QZ67_HUMAN)
- cDNA FLJ11471 fis, clone HEMBA1001675, highly similar to Mus musculus GTPase activating protein and VPS9 domains 1 (Gapvd1), mRNA (B3KMM3_HUMAN)
- cDNA FLJ52111, highly similar to Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA (B4DGD8_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q14C86- Family:
-
- Belongs to the GAPVD1 family.
Function for GAPVD1 Gene
Molecular function for GAPVD1 Gene
- UniProtKB/Swiss-Prot Function:
- Acts both as a GTPase-activating protein (GAP) and a guanine nucleotide exchange factor (GEF), and participates in various processes such as endocytosis, insulin receptor internalization or LC2A4/GLUT4 trafficking. Acts as a GEF for the Ras-related protein RAB31 by exchanging bound GDP for free GTP, leading to regulate LC2A4/GLUT4 trafficking. In the absence of insulin, it maintains RAB31 in an active state and promotes a futile cycle between LC2A4/GLUT4 storage vesicles and early endosomes, retaining LC2A4/GLUT4 inside the cells. Upon insulin stimulation, it is translocated to the plasma membrane, releasing LC2A4/GLUT4 from intracellular storage vesicles. Also involved in EGFR trafficking and degradation, possibly by promoting EGFR ubiquitination and subsequent degradation by the proteasome. Has GEF activity for Rab5 and GAP activity for Ras.
Phenotypes From GWAS Catalog for GAPVD1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005085 | guanyl-nucleotide exchange factor activity | IMP | 16410077 |
| GO:0005096 | GTPase activator activity | IEA | -- |
| GO:0032794 | GTPase activating protein binding | IMP | 16410077 |
| GO:0045296 | cadherin binding | HDA | 25468996 |
Phenotypes for GAPVD1 Gene
- MGI mutant phenotypes for GAPVD1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for GAPVD1:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GAPVD1 - Starting at $85 >
- * GAPVD1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for GAPVD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GAPVD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for GAPVD1
miRNA for GAPVD1 Gene
- miRTarBase miRNAs that target GAPVD1
-
- mmu-miR-190a-5p (MIRT013667)
- hsa-miR-155-5p (MIRT020580)
- hsa-miR-34a-5p (MIRT025363)
- hsa-miR-98-5p (MIRT027460)
- hsa-miR-21-5p (MIRT030754)
- hsa-let-7b-5p (MIRT032293)
- hsa-miR-30c-5p (MIRT047978)
- hsa-miR-4280 (MIRT240673)
- hsa-miR-3192-5p (MIRT324251)
- hsa-miR-6510-3p (MIRT539800)
- hsa-miR-6864-3p (MIRT539801)
- hsa-miR-3672 (MIRT539802)
- hsa-miR-6888-3p (MIRT539803)
- hsa-miR-196a-3p (MIRT539804)
- hsa-miR-661 (MIRT539805)
- hsa-miR-873-3p (MIRT539806)
- hsa-miR-4522 (MIRT539807)
- hsa-miR-3120-5p (MIRT539808)
- hsa-miR-6860 (MIRT539809)
- hsa-miR-612 (MIRT539810)
- hsa-miR-3187-5p (MIRT539811)
- hsa-miR-5189-5p (MIRT539812)
- hsa-miR-1285-3p (MIRT539813)
- hsa-miR-372-5p (MIRT539814)
- hsa-miR-371a-5p (MIRT539815)
- hsa-miR-616-5p (MIRT539816)
- hsa-miR-373-5p (MIRT539817)
- hsa-miR-371b-5p (MIRT539818)
- hsa-miR-939-3p (MIRT539819)
- hsa-miR-3664-5p (MIRT539821)
- hsa-miR-302c-5p (MIRT657947)
- hsa-miR-6873-3p (MIRT657948)
- hsa-miR-3143 (MIRT657949)
- hsa-miR-492 (MIRT657950)
- hsa-miR-6817-3p (MIRT657951)
- hsa-miR-7110-3p (MIRT657952)
- hsa-miR-6845-3p (MIRT657953)
- hsa-miR-136-5p (MIRT657954)
- hsa-miR-197-3p (MIRT657955)
- hsa-miR-6809-3p (MIRT657956)
- hsa-miR-3692-3p (MIRT657957)
- hsa-miR-4753-3p (MIRT657958)
- hsa-miR-1260b (MIRT657959)
- hsa-miR-1260a (MIRT657960)
- hsa-miR-6802-3p (MIRT657961)
- hsa-miR-6886-3p (MIRT657962)
- hsa-miR-942-5p (MIRT657963)
- hsa-miR-6754-3p (MIRT657964)
- hsa-miR-412-3p (MIRT657965)
- hsa-miR-1236-3p (MIRT657966)
- hsa-miR-6515-3p (MIRT657967)
- hsa-miR-1224-3p (MIRT657968)
- hsa-miR-140-3p (MIRT657969)
- hsa-miR-129-2-3p (MIRT657970)
- hsa-miR-129-1-3p (MIRT657971)
- hsa-miR-6779-3p (MIRT657972)
- hsa-miR-4687-5p (MIRT657973)
- hsa-miR-6516-5p (MIRT703352)
- hsa-miR-6780a-5p (MIRT703353)
- hsa-miR-6779-5p (MIRT703354)
- hsa-miR-3689c (MIRT703355)
- hsa-miR-3689b-3p (MIRT703356)
- hsa-miR-3689a-3p (MIRT703357)
- hsa-miR-30b-3p (MIRT703358)
- hsa-miR-1273h-5p (MIRT703359)
- hsa-miR-455-3p (MIRT703360)
- hsa-miR-6807-5p (MIRT703361)
- hsa-miR-203b-3p (MIRT703362)
- hsa-miR-7158-3p (MIRT703363)
- hsa-miR-7847-3p (MIRT703364)
- hsa-miR-6880-5p (MIRT703365)
- hsa-miR-6799-5p (MIRT703366)
- hsa-miR-6883-5p (MIRT703367)
- hsa-miR-6785-5p (MIRT703368)
- hsa-miR-4728-5p (MIRT703369)
- hsa-miR-149-3p (MIRT703370)
- hsa-miR-7106-5p (MIRT703371)
- hsa-miR-6851-5p (MIRT703372)
- hsa-miR-3689d (MIRT703373)
- hsa-miR-6499-3p (MIRT703374)
- hsa-miR-767-5p (MIRT703375)
- hsa-miR-6086 (MIRT703376)
- hsa-miR-377-5p (MIRT703377)
- hsa-miR-6134 (MIRT703378)
- hsa-miR-1185-5p (MIRT761208)
- hsa-miR-1224-5p (MIRT761293)
- hsa-miR-30c-1-3p (MIRT764656)
- hsa-miR-30c-2-3p (MIRT764701)
- hsa-miR-3122 (MIRT764805)
- hsa-miR-3165 (MIRT765185)
- hsa-miR-3605-5p (MIRT765841)
- hsa-miR-363-5p (MIRT766226)
- hsa-miR-3656 (MIRT766416)
- hsa-miR-3679-5p (MIRT766734)
- hsa-miR-3913-5p (MIRT767609)
- hsa-miR-3915 (MIRT767639)
- hsa-miR-4433a-3p (MIRT769000)
- hsa-miR-4459 (MIRT769270)
- hsa-miR-450a-1-3p (MIRT769843)
- hsa-miR-4689 (MIRT771072)
- hsa-miR-5186 (MIRT773493)
- hsa-miR-6513-5p (MIRT776995)
- hsa-miR-6745 (MIRT778194)
- hsa-miR-6788-5p (MIRT779233)
- hsa-miR-6858-5p (MIRT780522)
- hsa-miR-6888-5p (MIRT781094)
- hsa-miR-887-5p (MIRT782554)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GAPVD1
- Browse OriGene Inhibitory RNA Products For GAPVD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAPVD1
Clone products for research
- Applied Biological Materials (abm): Clones for GAPVD1 - Starting at $45 >
- * GAPVD1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for GAPVD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GAPVD1
Cell Lines for research
-
Horizon Cell Lines for GAPVD1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GAPVD1 Gene
Localization for GAPVD1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for GAPVD1 Gene
- Membrane. Peripheral membrane protein. Endosome. Note=Recruited to the plasma membrane by TRIP10/CIP4 in response to insulin.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytosol | 5 |
| endosome | 4 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (4)
- Plasma membrane (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005768 | endosome | IEA | -- |
| GO:0005829 | cytosol | IDA,TAS | -- |
| GO:0005886 | plasma membrane | IDA | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for GAPVD1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Vesicle-mediated transport | ||
| 2 | Clathrin-mediated endocytosis | ||
| 3 | RAB GEFs exchange GTP for GDP on RABs | ||
Pathways by source for GAPVD1 Gene
4 Reactome pathways for GAPVD1 Gene
Interacting Proteins for GAPVD1 Gene
Selected Interacting proteins:
Q14C86-GAPD1_HUMAN
ENSP00000377664
for GAPVD1 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for GAPVD1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006897 | endocytosis | IEA | -- |
| GO:0007165 | signal transduction | IEA | -- |
| GO:0043087 | regulation of GTPase activity | IEA | -- |
| GO:0043547 | positive regulation of GTPase activity | IEA | -- |
| GO:0051223 | regulation of protein transport | IMP | 16410077 |
No data available for SIGNOR curated interactions for GAPVD1 Gene
Drugs & Compounds for GAPVD1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Interferon beta-1a | Approved, Investigational | Pharma | 229 | |||
| Interferon beta-1b | Approved | Pharma | 100 | |||
| Guanosine diphosphate | Experimental | Pharma | 0 | |||
| Guanosine monophosphate | Experimental | Pharma | 0 | |||
| Guanosine triphosphate | Experimental | Pharma | 0 |
Transcripts for GAPVD1 Gene
mRNA/cDNA for GAPVD1 Gene
- 15 REFSEQ mRNAs :
- 31 NCBI additional mRNA sequence :
- 20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000265956 2667 nts (view in UCSC)
- ENST00000297933 9176 nts (view in UCSC)
- ENST00000312123 4320 nts (view in UCSC)
- ENST00000394083 4747 nts (view in UCSC)
- ENST00000394084 3190 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GAPVD1 - Starting at $85 >
- * GAPVD1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for GAPVD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GAPVD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for GAPVD1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GAPVD1
- Browse OriGene Inhibitory RNA Products For GAPVD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAPVD1
Clone products for research
- Applied Biological Materials (abm): Clones for GAPVD1 - Starting at $45 >
- * GAPVD1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for GAPVD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GAPVD1
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17a | · | 17b | ^ | 18a | · | 18b | ^ | 19 | ^ | 20 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: |
| ExUns: | 21a | · | 21b | · | 21c | · | 21d | ^ | 22a | · | 22b | ^ | 23a | · | 23b | ^ | 24 | ^ | 25a | · | 25b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||
| SP3: | |||||||||||||||||||||
| SP4: | |||||||||||||||||||||
| SP5: | - | - | |||||||||||||||||||
| SP6: | |||||||||||||||||||||
| SP7: | - | - | |||||||||||||||||||
| SP8: |
Relevant External Links for GAPVD1 Gene
- GeneLoc Exon Structure for
- GAPVD1
Expression for GAPVD1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Peripheral blood mononuclear cells (16.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GAPVD1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GAPVD1
SOURCE GeneReport for Unigene cluster for GAPVD1 Gene:
Hs.495134Evidence on tissue expression from TISSUES for GAPVD1 Gene
- Nervous system(4.6)
- Liver(4.3)
- Intestine(4.2)
Primer products for research
-
OriGene qPCR primer pairs for GAPVD1
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GAPVD1 Gene
Orthologs for GAPVD1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | GAPVD1 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | GAPVD1 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | GAPVD1 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | GAPVD1 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | GAPVD1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Gapvd1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Gapvd1 30 |
|
||
| Chicken (Gallus gallus) |
Aves | GAPVD1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | GAPVD1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gapvd1 30 |
|
||
| Str.1904 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.9260 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | GAPVD1 (1 of 2) 31 |
|
OneToMany | |
| gapvd1 30 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG1657 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | rme-6 31 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | VPS9 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1494 31 |
|
OneToOne | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3895 30 |
|
- Species where no ortholog for GAPVD1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for GAPVD1 Gene
- ENSEMBL:
- Gene Tree for GAPVD1 (if available)
- TreeFam:
- Gene Tree for GAPVD1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for GAPVD1: view image
Paralogs for GAPVD1 Gene
Variants for GAPVD1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GAPVD1 Gene
| SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs11794365 | Benign: not provided | 125,341,197(+) |
C/T NM_001282680.3(GAPVD1):c.2898C>T (p.Ser966=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
| rs145897750 | Benign: not provided | 125,307,821(+) |
A/G NM_001282680.3(GAPVD1):c.1382A>G (p.Asn461Ser) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| rs41305469 | Benign: not provided | 125,323,933(+) |
A/G NM_001282680.3(GAPVD1):c.1858+10A>G |
INTRON | |
| rs55779102 | Benign: not provided | 125,302,647(+) |
G/A NM_001282680.3(GAPVD1):c.850G>A (p.Val284Met) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1528230 | CNV | insertion | 17803354 |
| esv2599223 | CNV | insertion | 19546169 |
| esv2739042 | CNV | deletion | 23290073 |
| nsv1046626 | CNV | gain | 25217958 |
| nsv831722 | CNV | gain | 17160897 |
| nsv968753 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
2.04% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.89;
48.61% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for GAPVD1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- GAPVD1
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GAPVD1 Gene
Disorders for GAPVD1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| genetic steroid-resistant nephrotic syndrome |
|
|
Search GAPVD1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for GAPVD1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for GAPVD1 Gene
Publications for GAPVD1 Gene
- Rab5-activating protein 6, a novel endosomal protein with a role in endocytosis. (PMID: 16410077) Hunker CM … Barbieri MA (Biochemical and biophysical research communications 2006) 3 4 23
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
- Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10819331) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4
- Identification of SUMO Binding Proteins Enriched after Covalent Photo-Cross-Linking. (PMID: 32786267) Brüninghoff K … Mootz HD (ACS chemical biology 2020) 3
- Hypertonicity-responsive ubiquitin ligase RNF183 promotes Na, K-ATPase lysosomal degradation through ubiquitination of its β1 subunit. (PMID: 31732153) Okamoto T … Kaneko M (Biochemical and biophysical research communications 2020) 3
ExternalLinks
Products for GAPVD1 Gene
- Custom Antibody ServicesOriGene Antibodies for GAPVD1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for GAPVD1
- Search Origene for MassSpec and Protein Over-expression Lysates for GAPVD1
- Origene Custom Protein Services for GAPVD1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GAPVD1
- Browse OriGene Inhibitory RNA Products For GAPVD1
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- OriGene CRISPR knockouts for GAPVD1
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- Browse OriGene miRNA Products For GAPVD1
- Sino Biological Human cDNA Clone for GAPVD1
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- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
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- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for GAPVD1
- Novus Biologicals proteins and lysates for GAPVD1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
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- Abcam antibodies for GAPVD1
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- Browse Primary Antibodies
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- Invitrogen Antibodies for GAPVD1 (AFLGC-Gapvd1)
- VectorBuilder Custom and pre-made DNA vectors for GAPVD1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for GAPVD1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for GAPVD1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for GAPVD1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for GAPVD1
- antibodies-online: Show 3 available GAPVD1 Antibodies ranked by validation data
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- antibodies-online: Show 3 available GAPVD1 Proteins ranked by validation data
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- Quality Products:
- Custom Antibody ServicesProSci Antibodies for GAPVD1
- Search for GAPVD1 Proteins at ProSci
- Horizon Cell Lines for GAPVD1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GAPVD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GAPVD1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for GAPVD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAPVD1
- Biorbyt antibodies for GAPVD1
Sources for GAPVD1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB