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Aliases for RPH3A Gene

Aliases for RPH3A Gene

  • Rabphilin 3A 2 3 5
  • Exophilin-1 3 4
  • Rabphilin 3A Homolog (Mouse) 2
  • Rabphilin 3A Homolog 3
  • Rabphilin-3A 3
  • KIAA0985 4

External Ids for RPH3A Gene

Previous GeneCards Identifiers for RPH3A Gene

  • GC12P112124
  • GC12P112748
  • GC12P113012
  • GC12P111641
  • GC12P111627
  • GC12P111692
  • GC12P113229
  • GC12P110241

Summaries for RPH3A Gene

Entrez Gene Summary 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 Synucleinopathy. Among its related pathways are Deregulation of Rab and Rab Effector Genes in Bladder Cancer. GO annotations related to this gene include calcium ion binding and protein complex binding. An important paralog of this gene is DOC2B.

UniProtKB/Swiss-Prot for RPH3A Gene

  • Protein transport. Probably involved with Ras-related protein Rab-3A in synaptic vesicle traffic and/or synaptic vesicle fusion. Could play a role in neurotransmitter release by regulating membrane flow in the nerve terminal (By similarity).

Gene Wiki entry for RPH3A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPH3A Gene

Genomics for RPH3A Gene

Regulatory Elements for RPH3A Gene

Enhancers for RPH3A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G112838 1 Ensembl ENCODE 29.7 +269.1 269120 1.8 ELF3 FOXA2 JUN SIN3A ZNF644 DNMT3B TEAD3 GATA2 POLR2A FOS RPH3A GC12P112823 GC12M112858
GH12G112887 0.5 Ensembl 45.6 +317.4 317439 0.8 ZNF146 ZBTB33 NFE2 NR2F2 RPH3A OAS3 GC12M112885 GC12M112897
GH12G112599 1.3 FANTOM5 ENCODE 12.5 +29.7 29700 0.4 ELF3 TBP FOXA2 ZFP64 ARID4B ZSCAN9 RAD21 RARA YY1 SLC30A9 RPH3A OAS2 OAS3 OAS1 GC12M112589 GC12P112610
GH12G112537 0.8 Ensembl ENCODE 11.5 -32.2 -32225 0.5 ZNF366 SCRT2 TEAD4 FOXP2 RFX5 TEAD3 RPH3A GC12P112536 GC12P112539
GH12G112597 0.5 FANTOM5 12.5 +27.7 27695 0.4 NFE2 NFE2L2 RPH3A OAS2 OAS3 OAS1 TRAFD1 GC12P112594 PIR44714 GC12M112589
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RPH3A on UCSC Golden Path with GeneCards custom track

Genomic Location for RPH3A Gene

Chromosome:
12
Start:
112,570,380 bp from pter
End:
112,898,881 bp from pter
Size:
328,502 bases
Orientation:
Plus strand

Genomic View for RPH3A Gene

Genes around RPH3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPH3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPH3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • B7Z3C3
    • Q96AE0

    Protein attributes for RPH3A Gene

    Size:
    694 amino acids
    Molecular mass:
    76872 Da
    Quaternary structure:
    • Monomer. Interacts with RAB3A, RAB3B, RAB3C, RAB3D, RAB8A, RAB27A and RAB27B (By similarity).
    SequenceCaution:
    • Sequence=BAA76829.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for RPH3A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RPH3A Gene

Post-translational modifications for RPH3A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RPH3A Gene

Domains & Families for RPH3A Gene

Gene Families for RPH3A Gene

Suggested Antigen Peptide Sequences for RPH3A Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y2J0

UniProtKB/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).
genes like me logo Genes that share domains with RPH3A: view

Function for RPH3A Gene

Molecular function for RPH3A Gene

UniProtKB/Swiss-Prot Function:
Protein transport. Probably involved with Ras-related protein Rab-3A in synaptic vesicle traffic and/or synaptic vesicle fusion. Could play a role in neurotransmitter release by regulating membrane flow in the nerve terminal (By similarity).

Gene Ontology (GO) - Molecular Function 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 IBA,ISS --
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding ISS --
GO:0008270 zinc ion binding ISS --
genes like me logo Genes that share ontologies with RPH3A: view
genes like me logo Genes that share phenotypes with RPH3A: view

Animal Models for RPH3A Gene

MGI Knock Outs for RPH3A:

Animal Model Products

Inhibitory RNA Products

Clone Products

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

Cell junction, synapse. Membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RPH3A gene
Compartment Confidence
cytosol 5
plasma membrane 4

Gene Ontology (GO) - Cellular Components for RPH3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005794 colocalizes_with Golgi apparatus ISS --
GO:0005829 cytosol ISS --
GO:0005886 plasma membrane IBA --
GO:0008021 synaptic vesicle TAS 10099709
genes like me logo Genes that share ontologies with RPH3A: view

Pathways & Interactions for RPH3A Gene

genes like me logo Genes that share pathways with RPH3A: view

Pathways by source for RPH3A Gene

Gene Ontology (GO) - Biological Process for RPH3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006886 intracellular protein transport IEA --
GO:0006906 vesicle fusion IBA --
GO:0015031 protein transport IEA --
GO:0017157 regulation of exocytosis IEA --
genes like me logo Genes that share ontologies with RPH3A: view

No data available for SIGNOR curated interactions for RPH3A Gene

Drugs & Compounds for RPH3A Gene

(6) Drugs for RPH3A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for RPH3A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RPH3A: view

Transcripts for RPH3A Gene

Unigene Clusters for RPH3A Gene

Rabphilin 3A homolog (mouse):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RPH3A Gene

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
ECgene alternative splicing isoforms for
RPH3A

Expression for RPH3A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RPH3A Gene

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).

Protein differential expression in normal tissues from HIPED for RPH3A Gene

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, PaxDb, and MOPED for RPH3A Gene



Protein tissue co-expression partners for RPH3A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RPH3A Gene:

RPH3A

SOURCE GeneReport for Unigene cluster for RPH3A Gene:

Hs.21239

Evidence on tissue expression from TISSUES for RPH3A Gene

  • Nervous system(5)
  • Adrenal gland(2.2)
genes like me logo Genes that share expression patterns with RPH3A: view

Primer 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.

Orthologs for RPH3A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RPH3A 34 35
  • 98.69 (n)
cow
(Bos Taurus)
Mammalia RPH3A 34 35
  • 90.11 (n)
dog
(Canis familiaris)
Mammalia RPH3A 34 35
  • 88.89 (n)
rat
(Rattus norvegicus)
Mammalia Rph3a 34
  • 83.21 (n)
mouse
(Mus musculus)
Mammalia Rph3a 34 16 35
  • 83.06 (n)
oppossum
(Monodelphis domestica)
Mammalia RPH3A 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RPH3A 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves RPH3A 34 35
  • 72.16 (n)
lizard
(Anolis carolinensis)
Reptilia RPH3A 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487950 34
  • 68.14 (n)
zebrafish
(Danio rerio)
Actinopterygii rph3ab 34
  • 68.7 (n)
RPH3A (2 of 2) 35
  • 61 (a)
OneToMany
RPH3A (1 of 2) 35
  • 58 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rph 34 35
  • 53.7 (n)
rabphilin-3A 36
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea rbf-1 34 35
  • 53.39 (n)
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)

Paralogs for RPH3A Gene

Variants for RPH3A Gene

Sequence variations from dbSNP and Humsavar for RPH3A Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs869312710 Uncertain significance 112,883,315(+) AAAAA(C/G)TCTGC nc-transcript-variant, reference, missense
rs1000043941 -- 112,849,121(+) TTAAC(A/G)AGGTT intron-variant
rs1000069533 -- 112,802,913(+) GATTG(A/G)TGAAA intron-variant
rs1000075988 -- 112,842,878(+) TCTCA(A/G)TTAAC intron-variant
rs1000108909 -- 112,884,901(+) ATTCA(A/G)TATCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RPH3A Gene

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

Variation tolerance for RPH3A Gene

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)

Relevant External Links for RPH3A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPH3A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPH3A Gene

Disorders for RPH3A Gene

MalaCards: The human disease database

(2) MalaCards diseases for RPH3A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
infundibulo-neurohypophysitis
synucleinopathy
  • alpha synucleinopathies
- elite association - COSMIC cancer census association via MalaCards
Search RPH3A in MalaCards View complete list of genes associated with diseases

Relevant External Links for RPH3A

Genetic Association Database (GAD)
RPH3A
Human Genome Epidemiology (HuGE) Navigator
RPH3A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RPH3A
genes like me logo Genes that share disorders with RPH3A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RPH3A Gene

Publications for RPH3A Gene

  1. 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 Res. 1999) 2 3 4 64
  2. Visualization of Rab3A dissociation during exocytosis: a study by total internal reflection microscopy. (PMID: 17149709) Lin C.C. … Kao L.S. (J. Cell. Physiol. 2007) 3 22 64
  3. Loss of SNAP-25 and rabphilin 3a in sensory-motor cortex in Huntington's disease. (PMID: 17877635) Smith R. … Li J.Y. (J. Neurochem. 2007) 3 22 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Abnormal alpha-synuclein interactions with rab3a and rabphilin in diffuse Lewy body disease. (PMID: 15207266) DalfA^ E. … Ferrer I. (Neurobiol. Dis. 2004) 3 22 64

Products for RPH3A Gene

Sources for RPH3A Gene

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