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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
  • 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

  • Exocytosis of neurotransmitters and hormones is fundamental to synaptic neurotransmission and cell-cell communication. RAB3A (MIM 179390) is a small G protein that is thought to act at late stages of exocytosis, and RPH3A is a RAB3A effector (Lin et al., 2007 [PubMed 17149709]).[supplied by OMIM, Jul 2008]

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 SYTL3.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPH3A Gene

Genomics for RPH3A Gene

Regulatory Elements for RPH3A Gene

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

Proteomics data for RPH3A Gene at MOPED

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).
  • Contains 1 FYVE-type zinc finger.
Domain:
  • Binds calcium via the C2 domains. The calcium-bound C2 domains mediate interactions with phospholipid bilayers (By similarity).
  • Contains 2 C2 domains.
  • Contains 1 RabBD (Rab-binding) domain.
Similarity:
  • Contains 1 FYVE-type zinc finger.
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:0005515 protein binding IEA,IPI 11377421
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding ISS --
GO:0017137 Rab GTPase binding IEA --
GO:0019905 syntaxin binding IBA --
GO:0046872 metal ion binding IEA --
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

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
Jensen Localization Image for RPH3A Gene COMPARTMENTS Subcellular localization image for RPH3A gene
Compartment Confidence
cytosol 5
golgi apparatus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for RPH3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA --
GO:0008021 synaptic vesicle TAS 10099709
GO:0016020 membrane IEA --
GO:0019898 extrinsic component of membrane ISS --
GO:0030672 synaptic vesicle membrane ISS --
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

None

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:

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 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



SOURCE GeneReport for Unigene cluster for RPH3A Gene Hs.21239

genes like me logo Genes that share expression patterns with RPH3A: view

Protein tissue co-expression partners for RPH3A Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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 36
  • 97 (a)
OneToOne
RPH3A 35
  • 98.69 (n)
  • 98.55 (a)
cow
(Bos Taurus)
Mammalia RPH3A 35
  • 90.11 (n)
  • 93.52 (a)
RPH3A 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RPH3A 36
  • 92 (a)
OneToOne
RPH3A 35
  • 88.89 (n)
  • 92.51 (a)
mouse
(Mus musculus)
Mammalia Rph3a 36
  • 89 (a)
OneToOne
Rph3a 16
Rph3a 35
  • 83.06 (n)
  • 88.59 (a)
oppossum
(Monodelphis domestica)
Mammalia RPH3A 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RPH3A 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rph3a 35
  • 83.21 (n)
  • 88.74 (a)
chicken
(Gallus gallus)
Aves RPH3A 35
  • 72.16 (n)
  • 75.53 (a)
RPH3A 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RPH3A 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487950 35
  • 68.14 (n)
  • 71.99 (a)
zebrafish
(Danio rerio)
Actinopterygii RPH3A (1 of 2) 36
  • 58 (a)
OneToMany
RPH3A (2 of 2) 36
  • 61 (a)
OneToMany
rph3ab 35
  • 68.7 (n)
  • 73.9 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rph 36
  • 32 (a)
OneToMany
rabphilin-3A 37
  • 39 (a)
Rph 35
  • 53.7 (n)
  • 43.7 (a)
worm
(Caenorhabditis elegans)
Secernentea rbf-1 35
  • 53.39 (n)
  • 45.91 (a)
rbf-1 36
  • 23 (a)
OneToMany
Species with no ortholog for RPH3A:
  • 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

Paralogs for RPH3A Gene

Pseudogenes.org Pseudogenes for RPH3A Gene

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

Variants for RPH3A Gene

Sequence variations from dbSNP and Humsavar for RPH3A Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs733740 -- 112,879,771(-) GTTCA(A/G)TCCTA intron-variant
rs739832 -- 112,822,056(-) CCTCA(A/C)ATTGG intron-variant
rs739833 -- 112,821,891(-) TAGAA(G/T)AATTA intron-variant
rs739835 -- 112,821,403(+) ATCTG(A/G)CACCC intron-variant
rs757399 -- 112,880,248(-) ATATT(A/C/G)TAGGT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv832515 CNV Gain 17160897
esv2746377 CNV Deletion 23290073
esv987835 CNV Insertion 20482838
esv275176 CNV Gain+Loss 21479260
esv2673292 CNV Deletion 23128226
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

HapMap Linkage Disequilibrium report
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 67
  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 23
  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 23
  4. Abnormal alpha-synuclein interactions with rab3a and rabphilin in diffuse Lewy body disease. (PMID: 15207266) DalfA^ E. … Ferrer I. (Neurobiol. Dis. 2004) 3 23
  5. Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2. (PMID: 12578829) Fukuda M. (J. Biol. Chem. 2003) 3 23

Products for RPH3A Gene

Sources for RPH3A Gene

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