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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]
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.
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 |
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 | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Deregulation of Rab and Rab Effector Genes in Bladder Cancer |
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 | -- |
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: |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
infundibulo-neurohypophysitis |
|
|
martsolf syndrome |
|
|
diabetes insipidus, neurohypophyseal |
|
|