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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 Diabetes Insipidus, Neurohypophyseal. 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).
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 for RPH3A Gene
Promoters and enhancers for RPH3A 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 RPH3A on UCSC Golden Path with GeneCards custom track
- 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
- 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:
-
- ENSP00000448662
- ENSP00000449705
- ENSP00000448100
- ENSP00000450347
- ENSP00000449613
- ENSP00000447083
- ENSP00000446780
- ENSP00000446789
- ENSP00000447639
- ENSP00000446556
- ENSP00000405357
- ENSP00000450382
- ENSP00000440384
- ENSP00000448297
- ENSP00000449650
- ENSP00000450216
- ENSP00000446570
- ENSP00000447505
- ENSP00000447306
- ENSP00000374036
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ Rabphilin 3A Antibody
- Atlas Antibodies Anti-RPH3A Antibody
- Creative Diagnostics Anti-RPH3A (aa 36-85) polyclonal antibody
- Creative Biolabs Recombinant Anti-Human RPH3A Antibody Fab Fragment and Recombinant Anti-Human RPH3A Antibody
- Novus Biologicals Antibodies for RPH3A
-
Abcam antibodies for RPH3A
- Invitrogen Antibodies for RPH3A (AFLGC-RPH3A)
-
Biorbyt antibodies for RPH3A
-
Boster Bio Antibodies for RPH3A
-
Santa Cruz Biotechnology (SCBT) Antibodies for RPH3A
Protein Products
- Creative Biomart Recombinant Human RPH3A lysate
-
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
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:
-
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Increased homologous recombination repair frequency
- Decreased ionizing radiation sensitivity
- Decreased viability in esophageal squamous lineage
- Downregulation of Wnt pathway after Wnt3A stimulation
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Upregulation of RLR pathway after Sendai virus (SeV) infection
- Increased gamma-H2AX phosphorylation
- Decreased NF-kappaB reporter expression
- Decreased IL-8 secretion
- Increased viability
- FOXO1 nuclear localization
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
-
OriGene CRISPR knockouts for RPH3A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RPH3A
- genomics-online: gRNA clones - Search results for available RPH3A gene related 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
- * RPH3A CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for RPH3A
miRNA for RPH3A Gene
- miRTarBase miRNAs that target RPH3A
-
- 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)
- 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 sirna, shrna, 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
- genomics-online: shRNA clones - Search results for available RPH3A gene related products
Clone Products
-
- MG210001
- MR210001
- MR210001L3
- MR210001L3V
- MR210001L4
- MR210001L4V
- MR230869
- MR230870
- RC205675
- RC205675L3
- RC205675L3V
- RC205675L4
- RC205675L4V
- RC226947
- RC226947L3
- RC226947L3V
- RC226947L4
- RC226947L4V
- RG205675
- RG226947
- RR209566
- RR209566L1
- RR209566L1V
- RR209566L2
- RR209566L2V
- RR209566L3
- RR209566L3V
- RR209566L4
- RR209566L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for RPH3A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RPH3A
- genomics-online: cdna clones - Search results for available RPH3A gene related products
- orf clones - Search results for available RPH3A gene related 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
- * RPH3A tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
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 |
|---|---|
| cytosol | 4 |
| plasma membrane | 3 |
| endosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005623 | cell | IEA | -- |
| GO:0005794 | colocalizes_with Golgi apparatus | ISS | -- |
| GO:0005829 | cytosol | ISS | -- |
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0008021 | synaptic vesicle | TAS | 10099709 |
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
Drugs & Compounds for RPH3A Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
- Creative Biomart Recombinant Human RPH3A lysate
Transcripts for RPH3A Gene
mRNA/cDNA for RPH3A Gene
- (6) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (89) Selected AceView cDNA sequences:
- (27) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000389385 4590 bps (ENST00000389385.8)
- ENST00000415485 4452 bps (ENST00000415485.7)
- ENST00000543106 2581 bps (ENST00000543106.6)
- ENST00000546426 492 bps (ENST00000546426.5)
- ENST00000546687 568 bps (ENST00000546687.1)
CRISPR Products
-
OriGene CRISPR knockouts for RPH3A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RPH3A
- genomics-online: gRNA clones - Search results for available RPH3A gene related 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
- * RPH3A CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for RPH3A
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, 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
- genomics-online: shRNA clones - Search results for available RPH3A gene related products
Clone Products
-
- MG210001
- MR210001
- MR210001L3
- MR210001L3V
- MR210001L4
- MR210001L4V
- MR230869
- MR230870
- RC205675
- RC205675L3
- RC205675L3V
- RC205675L4
- RC205675L4V
- RC226947
- RC226947L3
- RC226947L3V
- RC226947L4
- RC226947L4V
- RG205675
- RG226947
- RR209566
- RR209566L1
- RR209566L1V
- RR209566L2
- RR209566L2V
- RR209566L3
- RR209566L3V
- RR209566L4
- RR209566L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for RPH3A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RPH3A
- genomics-online: cdna clones - Search results for available RPH3A gene related products
- orf clones - Search results for available RPH3A gene related 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
- * RPH3A tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
| 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: |
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
NURSA nuclear receptor signaling pathways regulating expression of RPH3A Gene:
RPH3ASOURCE GeneReport for Unigene cluster for RPH3A Gene:
Hs.21239Evidence on tissue expression from TISSUES for RPH3A Gene
- Nervous system(5)
- Adrenal gland(2.2)
Primer Products
-
OriGene qPCR primer pairs for RPH3A
-
OriGene qPCR primer pairs and template standards for RPH3A
- genomics-online: primer clones - Search results for available RPH3A gene related products
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 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | RPH3A 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | RPH3A 33 32 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Rph3a 32 |
|
||
| mouse (Mus musculus) |
Mammalia | Rph3a 17 33 32 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | RPH3A 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | RPH3A 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | RPH3A 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | RPH3A 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100487950 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | rph3ab 32 |
|
||
| RPH3A (2 of 2) 33 |
|
OneToMany | |||
| RPH3A (1 of 2) 33 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Rph 33 32 |
|
OneToMany | |
| rabphilin-3A 34 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | rbf-1 33 32 |
|
OneToMany |
- Species where no ortholog for RPH3A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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
| SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs869312710 | uncertain-significance, not specified | 112,883,315(+) | C/G | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1000011430 | -- | 112,618,225(+) | C/G | genic_upstream_transcript_variant, intron_variant | |
| rs1000018780 | -- | 112,753,044(+) | G/A | genic_upstream_transcript_variant, intron_variant | |
| rs1000043941 | -- | 112,849,121(+) | G/A | genic_upstream_transcript_variant, intron_variant | |
| rs1000054145 | -- | 112,760,661(+) | A/G | genic_upstream_transcript_variant, intron_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 |
|
|
| 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
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 56
- 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 56
- 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 56
- 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 56
- 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 56
ExternalLinks
Products for RPH3A Gene
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Sources for RPH3A Gene
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