Free for academic non-profit institutions. Other users need a Commercial license
The protein encoded by this gene is thought to be an effector for RAB3A, which is a small G protein that acts in the late stages of neurotransmitter exocytosis. The encoded protein may be involved in neurotransmitter release and synaptic vesicle traffic. [provided by RefSeq, Dec 2016] See more...
Aliases for RPH3A Gene
Aliases for RPH3A Gene
External Ids for RPH3A Gene
- HGNC: 17056
- Entrez Gene: 22895
- Ensembl: ENSG00000089169
- OMIM: 612159
- UniProtKB: Q9Y2J0
Previous GeneCards Identifiers for RPH3A Gene
- GC12P112124
- GC12P112748
- GC12P113012
- GC12P111641
- GC12P111627
- GC12P111692
- GC12P113229
- GC12P110241
Summaries for RPH3A Gene
-
The protein encoded by this gene is thought to be an effector for RAB3A, which is a small G protein that acts in the late stages of neurotransmitter exocytosis. The encoded protein may be involved in neurotransmitter release and synaptic vesicle traffic. [provided by RefSeq, Dec 2016]
GeneCards Summary for RPH3A Gene
RPH3A (Rabphilin 3A) is a Protein Coding gene. Diseases associated with RPH3A include Infundibulo-Neurohypophysitis and Martsolf Syndrome. Among its related pathways are Deregulation of Rab and Rab Effector Genes in Bladder Cancer. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is DOC2B.
UniProtKB/Swiss-Prot Summary for RPH3A Gene
-
Plays an essential role in docking and fusion steps of regulated exocytosis (By similarity). At the presynaptic level, RPH3A is recruited by RAB3A to the synaptic vesicle membrane in a GTP-dependent manner where it modulates synaptic vesicle trafficking and calcium-triggered neurotransmitter release (By similarity). In the post-synaptic compartment, forms a ternary complex with GRIN2A and DLG4 and regulates NMDA receptor stability. Plays also a role in the exocytosis of arginine vasopressin hormone (By similarity).
Additional gene information for RPH3A Gene
- HGNC(17056)
- Entrez Gene(22895)
- Ensembl(ENSG00000089169)
- OMIM(612159)
- UniProtKB(Q9Y2J0)
- Open Targets Platform(ENSG00000089169)
- Search for RPH3A at DataMed
- Search for RPH3A at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RPH3A Gene
Genomics for RPH3A Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RPH3A Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH12J112794 | Promoter/Enhancer | 1.3 | EPDnew Ensembl ENCODE | 604.4 | +221.5 | 221481 | 0.8 | REST ZNF143 RAD21 ZBTB26 HDAC2 ZBTB48 AFF1 MYRF MIER1 EHMT2 | RPH3A OAS3 HSALNG0094122 lnc-RPL6-1 OAS1 | |
| GH12J112837 | Enhancer | 0.9 | Ensembl ENCODE | 29.7 | +268.1 | 268113 | 3.8 | FOXA1 GABPA TCF7 SP1 NFE2 ATF3 NR3C1 ZNF316 FOXA2 MAFF | RPH3A OAS1 OAS3 HECTD4 HSALNG0094123 HSALNG0094122 | |
| GH12J112870 | Enhancer | 0.6 | Ensembl ENCODE | 33.2 | +300.6 | 300621 | 1.2 | MNT SPI1 HLF MAX | RPH3A OAS3 HSALNG0094123 NONHSAG012341.2 OAS1 | |
| GH12J112842 | Enhancer | 0.6 | Ensembl | 30.7 | +272.4 | 272381 | 2.3 | ZIC2 ZKSCAN1 NFIC FOSL2 POLR2A RCOR1 YY1 JUN GLIS1 SMARCA4 | RPH3A OAS3 HSALNG0094123 HSALNG0094122 OAS1 | |
| GH12J112597 | Enhancer | 1.3 | FANTOM5 Ensembl ENCODE | 12.5 | +29.1 | 29120 | 3.4 | GATAD2A TFE3 SOX13 RCOR2 RXRB SP1 CEBPA CEBPB NFE2 ZKSCAN8 | RPH3A OAS2 OAS3 ALDH2 OAS1 TRAFD1 piR-55985-035 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around RPH3A on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RPH3A
- Top Transcription factor binding sites by QIAGEN in the RPH3A gene promoter:
-
- AML1a
- ATF-2
- CRE-BP1
- Evi-1
- HNF-1
- HNF-1A
- Lmo2
- PPAR-alpha
- Roaz
- STAT5B
Genomic Locations for RPH3A Gene
Genomic Locations for RPH3A Gene
- chr12:112,570,380-112,898,881
- (GRCh38/hg38)
- Size:
- 328,502 bases
- Orientation:
- Plus strand
- chr12:113,008,184-113,336,686
- (GRCh37/hg19)
- Size:
- 328,503 bases
- Orientation:
- Plus strand
Genomic View for RPH3A Gene
Genes around RPH3A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q24.13 by HGNC
- 12q24.13 by Entrez Gene
- 12q24.13 by Ensembl
RPH3A 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 RPH3A Gene
Proteins for RPH3A Gene
-
Protein details for RPH3A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y2J0-RP3A_HUMAN
- Recommended name:
- Rabphilin-3A
- Protein Accession:
- Q9Y2J0
- B7Z3C3
- Q96AE0
Protein attributes for RPH3A Gene
- Size:
- 694 amino acids
- Molecular mass:
- 76872 Da
- Cofactor:
- Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
- Quaternary structure:
-
- Interacts with RAB3B, RAB3C, RAB3D, RAB8A, RAB27A and RAB27B (By similarity). Interacts with RAB3A; this interaction recruits RPH3A to synaptic vesicules (PubMed:15207266). Interacts (via C2B domain) with SNAP25 (By similarity). Interacts with deubiquitinating enzyme CAND1; this interaction results in the deubiquitination of RPH3A (By similarity). Interacts with GRIN2A and DLG4; this ternary complex regulates NMDA receptor composition at postsynaptic membranes (By similarity). Interacts with SNCA (PubMed:15207266).
- SequenceCaution:
-
- Sequence=BAA76829.2; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for RPH3A Gene
Post-translational modifications for RPH3A Gene
- Ubiquitinated. Deubiquitinated by CAND1 to prevent its degradation.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for RPH3A Gene
- ENSEMBL proteins:
-
- ENSP00000446789
- ENSP00000446570
- ENSP00000449705
- ENSP00000440384
- ENSP00000446780
- ENSP00000447639
- ENSP00000447306
- ENSP00000446556
- ENSP00000450382
- ENSP00000449613
- ENSP00000447505
- ENSP00000449650
- ENSP00000374036
- ENSP00000448100
- ENSP00000447083
- ENSP00000448297
- ENSP00000405357
- ENSP00000450216
- ENSP00000450347
- ENSP00000448662
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ Rabphilin 3A Antibody
- Novus Biologicals Antibodies for RPH3A
-
Abcam antibodies for RPH3A
- Invitrogen Antibodies for RPH3A (AFLGC-RPH3A)
-
Boster Bio Antibodies for RPH3A
-
Santa Cruz Biotechnology (SCBT) Antibodies for RPH3A
Protein Products
-
OriGene Purified Proteins for RPH3A
- Search Origene for MassSpec and Protein Over-expression Lysates for RPH3A
- Origene Custom Protein Services for RPH3A
- Novus Biologicals proteins for RPH3A
-
Abcam proteins for RPH3A
Assay Products
- antibodies-online: Show 3 available RPH3A Elisa Kits ranked by validation data
- Compare Top RPH3A Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for RPH3A Gene
Domains & Families for RPH3A Gene
Gene Families for RPH3A Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for RPH3A Gene
- InterPro:
- Blocks:
-
- C2 domain
- Zn-finger, FYVE type
- Synaptotagmin signature
- Rabphilin-3A effector
- ProtoNet:
Suggested Antigen Peptide Sequences for RPH3A Gene
- GenScript: Design optimal peptide antigens:
-
- RPH3A protein (Q6PJY8_HUMAN)
- RPH3A protein (Q6PKD5_HUMAN)
- Exophilin-1 (RP3A_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9Y2J0UniProtKB/Swiss-Prot:
RP3A_HUMAN :- Binds calcium via the C2 domains. The calcium-bound C2 domains mediate interactions with phospholipid bilayers (By similarity).
- Domain:
-
- Binds calcium via the C2 domains. The calcium-bound C2 domains mediate interactions with phospholipid bilayers (By similarity).
Function for RPH3A Gene
Molecular function for RPH3A Gene
- UniProtKB/Swiss-Prot Function:
- Plays an essential role in docking and fusion steps of regulated exocytosis (By similarity). At the presynaptic level, RPH3A is recruited by RAB3A to the synaptic vesicle membrane in a GTP-dependent manner where it modulates synaptic vesicle trafficking and calcium-triggered neurotransmitter release (By similarity). In the post-synaptic compartment, forms a ternary complex with GRIN2A and DLG4 and regulates NMDA receptor stability. Plays also a role in the exocytosis of arginine vasopressin hormone (By similarity).
Phenotypes From GWAS Catalog for RPH3A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005509 | calcium ion binding | ISS | -- |
| GO:0005515 | protein binding | IPI | 11377421 |
| GO:0005544 | calcium-dependent phospholipid binding | ISS | -- |
| GO:0005546 | phosphatidylinositol-4,5-bisphosphate binding | ISS | -- |
| GO:0008270 | zinc ion binding | ISS | -- |
Phenotypes for RPH3A Gene
- MGI mutant phenotypes for RPH3A:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for RPH3A:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Increased gamma-H2AX phosphorylation
- Decreased viability in non-small-cell lung cancer (NSCLC) lineage
- Upregulation of RLR pathway after Sendai virus (SeV) infection
- Downregulation of Wnt pathway after Wnt3A stimulation
- FOXO1 nuclear localization
- Inconclusive
- Increased shRNA abundance (Z-score > 2)
- Decreased homologous recombination repair frequency
- Decreased IL-8 secretion
- Decreased shRNA abundance (Z-score < -2)
- Decreased ionizing radiation sensitivity
Animal Models for RPH3A Gene
- MGI Knock Outs for RPH3A:
-
- Rph3a Rph3a<tm1Sud>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RPH3A - Select products 50% OFF >
- * RPH3A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RPH3A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RPH3A
-
Santa Cruz Biotechnology (SCBT) CRISPR for RPH3A
miRNA for RPH3A Gene
- miRTarBase miRNAs that target RPH3A
-
- mmu-miR-758-3p (MIRT007522)
- mmu-miR-301b-3p (MIRT007981)
- mmu-miR-19b-3p (MIRT012443)
- mmu-miR-34b-5p (MIRT012781)
- hsa-miR-106a-5p (MIRT048316)
- hsa-miR-7106-5p (MIRT570528)
- hsa-miR-6739-5p (MIRT570529)
- hsa-miR-6733-5p (MIRT570530)
- hsa-miR-3153 (MIRT570531)
- hsa-miR-765 (MIRT570532)
- hsa-miR-6133 (MIRT570533)
- hsa-miR-6130 (MIRT570534)
- hsa-miR-6129 (MIRT570535)
- hsa-miR-6127 (MIRT570536)
- hsa-miR-4510 (MIRT570537)
- hsa-miR-4419a (MIRT570538)
- hsa-miR-4784 (MIRT570539)
- hsa-miR-3150b-3p (MIRT570540)
- hsa-miR-4739 (MIRT570541)
- hsa-miR-4756-5p (MIRT570542)
- hsa-miR-1321 (MIRT570543)
- hsa-miR-6873-5p (MIRT570544)
- hsa-miR-5197-3p (MIRT570545)
- mmu-miR-3473c (MIRT586055)
- hsa-miR-574-5p (MIRT654136)
- hsa-miR-493-5p (MIRT654137)
- hsa-miR-4666a-5p (MIRT654138)
- hsa-miR-6867-5p (MIRT654139)
- hsa-miR-3177-5p (MIRT654140)
- hsa-miR-124-5p (MIRT707181)
- hsa-miR-3650 (MIRT784997)
- hsa-miR-4455 (MIRT785922)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RPH3A
- Browse OriGene Inhibitory RNA Products For RPH3A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPH3A
Clone Products
- Applied Biological Materials (abm): Clones for RPH3A - Select products 50% OFF >
- * RPH3A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for RPH3A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RPH3A
Cell Line Products
-
Horizon Cell Lines for RPH3A
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RPH3A Gene
Localization for RPH3A Gene
Subcellular locations from UniProtKB/Swiss-Prot for RPH3A Gene
- Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Cell projection, dendritic spine. Cell junction, synapse, postsynaptic cell membrane. Membrane. Peripheral membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| cytosol | 4 |
| cytoskeleton | 2 |
| endosome | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005794 | colocalizes_with Golgi apparatus | ISS | -- |
| GO:0005829 | cytosol | ISS | -- |
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0008021 | synaptic vesicle | TAS | 10099709 |
| GO:0016020 | membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for RPH3A Gene
Pathways & Interactions for RPH3A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Deregulation of Rab and Rab Effector Genes in Bladder Cancer | ||
Pathways by source for RPH3A Gene
1 BioSystems pathway for RPH3A Gene
Interacting Proteins for RPH3A Gene
Selected Interacting proteins:
Q9Y2J0-RP3A_HUMAN
ENSP00000374036
for RPH3A Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for RPH3A
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006886 | intracellular protein transport | IEA | -- |
| GO:0015031 | protein transport | IEA | -- |
| GO:0061669 | spontaneous neurotransmitter secretion | IEA | -- |
No data available for SIGNOR curated interactions for RPH3A Gene
Transcripts for RPH3A Gene
mRNA/cDNA for RPH3A Gene
- 6 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 27 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000389385 4590 nts (view in UCSC)
- ENST00000415485 4452 nts (view in UCSC)
- ENST00000543106 2581 nts (view in UCSC)
- ENST00000546426 492 nts (view in UCSC)
- ENST00000546687 568 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RPH3A - Select products 50% OFF >
- * RPH3A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RPH3A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RPH3A
-
Santa Cruz Biotechnology (SCBT) CRISPR for RPH3A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RPH3A
- Browse OriGene Inhibitory RNA Products For RPH3A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPH3A
Clone Products
- Applied Biological Materials (abm): Clones for RPH3A - Select products 50% OFF >
- * RPH3A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for RPH3A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RPH3A
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
| SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: |
| ExUns: | 18c | ^ | 19 | ^ | 20 | ^ | 21a | · | 21b | ^ | 22a | · | 22b | ^ | 23 | ^ | 24 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||
| SP2: | - | ||||||||||||||||
| SP3: | - | ||||||||||||||||
| SP4: | |||||||||||||||||
| SP5: | |||||||||||||||||
| SP6: | |||||||||||||||||
| SP7: | |||||||||||||||||
| SP8: |
Relevant External Links for RPH3A Gene
- GeneLoc Exon Structure for
- RPH3A
Expression for RPH3A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
mRNA differential expression in normal tissues according to GTEx for RPH3A Gene
This gene is overexpressed in Brain - Cortex (x8.9), Brain - Frontal Cortex (BA9) (x8.7), Brain - Anterior cingulate cortex (BA24) (x7.0), Brain - Cerebellar Hemisphere (x4.9), and Brain - Cerebellum (x4.3).
This gene is overexpressed in Serum (35.6), Frontal cortex (20.4), and Cerebrospinal fluid (6.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RPH3A Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RPH3A
SOURCE GeneReport for Unigene cluster for RPH3A Gene:
Hs.21239Evidence on tissue expression from TISSUES for RPH3A Gene
- Nervous system(5)
- Adrenal gland(2.5)
Primer Products
-
OriGene qPCR primer pairs for RPH3A
-
OriGene qPCR primer pairs and template standards for RPH3A
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RPH3A Gene
Orthologs for RPH3A Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | RPH3A 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | RPH3A 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | RPH3A 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Rph3a 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Rph3a 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | RPH3A 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | RPH3A 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | RPH3A 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | RPH3A 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100487950 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | rph3ab 30 |
|
||
| RPH3A (2 of 2) 31 |
|
OneToMany | |||
| RPH3A (1 of 2) 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Rph 30 31 |
|
OneToMany | |
| rabphilin-3A 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | rbf-1 30 31 |
|
OneToMany |
- Species where no ortholog for RPH3A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- 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 Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- 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 RPH3A Gene
- ENSEMBL:
- Gene Tree for RPH3A (if available)
- TreeFam:
- Gene Tree for RPH3A (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for RPH3A: view image
Paralogs for RPH3A Gene
Paralogs for RPH3A Gene
(15) SIMAP similar genes for RPH3A Gene using alignment to 19 proteins:
- RP3A_HUMAN
- F8VNP7_HUMAN
- F8VNU2_HUMAN
- F8VNW3_HUMAN
- F8VP47_HUMAN
- F8VR41_HUMAN
- F8VRJ1_HUMAN
- F8VTR7_HUMAN
- F8VV58_HUMAN
- F8VVK8_HUMAN
- F8VZS2_HUMAN
- F8W045_HUMAN
- F8W116_HUMAN
- F8W131_HUMAN
- F8W1A3_HUMAN
- F8W1K7_HUMAN
- J3KR03_HUMAN
- Q6PJY8_HUMAN
- Q6PKD5_HUMAN
Pseudogenes.org Pseudogenes for RPH3A Gene
Variants for RPH3A Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RPH3A Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 741613 | Benign: not provided | 112,869,939(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 781700 | Benign: not provided | 112,876,673(+) | C/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 787101 | Benign: not provided | 112,868,593(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 801393 | Pathogenic: not provided | 112,870,006(+) | G/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| rs869312710 | Uncertain Significance: not specified | 112,883,315(+) | C/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2673292 | CNV | deletion | 23128226 |
| esv2746377 | CNV | deletion | 23290073 |
| esv275176 | CNV | gain+loss | 21479260 |
| esv3381540 | CNV | insertion | 20981092 |
| esv3435630 | CNV | insertion | 20981092 |
| esv3580467 | CNV | loss | 25503493 |
| esv3630788 | CNV | loss | 21293372 |
| esv3630789 | CNV | loss | 21293372 |
| esv987835 | CNV | insertion | 20482838 |
| nsv1042636 | CNV | gain | 25217958 |
| nsv832515 | CNV | gain | 17160897 |
| nsv832516 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
63.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.03;
68.63% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RPH3A Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPH3A Gene
Disorders for RPH3A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| infundibulo-neurohypophysitis |
|
|
| martsolf syndrome |
|
|
| diabetes insipidus, neurohypophyseal |
|
|
Search RPH3A in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for RPH3A
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for RPH3A Gene
Publications for RPH3A Gene
- Abnormal alpha-synuclein interactions with rab3a and rabphilin in diffuse Lewy body disease. (PMID: 15207266) Dalfó E … Ferrer I (Neurobiology of disease 2004) 3 4 23
- Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4
- Loss of SNAP-25 and rabphilin 3a in sensory-motor cortex in Huntington's disease. (PMID: 17877635) Smith R … Li JY (Journal of neurochemistry 2007) 3 23
- Visualization of Rab3A dissociation during exocytosis: a study by total internal reflection microscopy. (PMID: 17149709) Lin CC … Kao LS (Journal of cellular physiology 2007) 3 23
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
ExternalLinks
Products for RPH3A Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for RPH3A
- Search Origene for MassSpec and Protein Over-expression Lysates for RPH3A
- Origene Custom Protein Services for RPH3A
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RPH3A
- Browse OriGene Inhibitory RNA Products For RPH3A
- OriGene qPCR primer pairs for RPH3A
- OriGene qPCR primer pairs and template standards for RPH3A
- OriGene CRISPR knockouts for RPH3A
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For RPH3A
- Sino Biological Human cDNA Clone for RPH3A
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for RPH3A
- Novus Biologicals proteins for RPH3A
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for RPH3A
- Abcam proteins for RPH3A
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for RPH3A (AFLGC-RPH3A)
- VectorBuilder Custom and pre-made DNA vectors for RPH3A (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for RPH3A (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for RPH3A (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for RPH3A CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for RPH3A
- antibodies-online: Show 29 available RPH3A Antibodies ranked by validation data
- Compare Top RPH3A Antibodies
- antibodies-online: Show 3 available RPH3A Elisa Kits ranked by validation data
- Compare Top RPH3A Elisa Kits
- Quality Products:
- antibodies-online: Show 4 available RPH3A Proteins ranked by validation data
- Compare Top RPH3A Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for RPH3A
- Search Santa Cruz Biotechnology (SCBT) for RPH3A siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for RPH3A
- Horizon Cell Lines for RPH3A
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RPH3A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RPH3A
- Search GeneCopoeia for miRNA 3'UTR Target clone products for RPH3A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPH3A
Sources for RPH3A Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (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) Genetics Home Reference
- (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) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB