RPH3A - rabphilin 3A Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 22895

About RPH3A

Cytogenetic location: 12q24.13 Genomic coordinates (GRCh38): 12:112,575,236-112,898,881 (from NCBI)

This gene has 27 transcripts (splice variants), 335 orthologues and 31 paralogues. Biased expression in brain (RPKM 30.1) and adrenal (RPKM 1.7).

Summary

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 Products (6)

mRNA Protein Name
NM_001143854.2 NP_001137326.1 rabphilin-3A isoform 1
NM_001347952.2 NP_001334881.1 rabphilin-3A isoform 1
NM_001347953.1 NP_001334882.1 rabphilin-3A isoform 1
NM_001347954.2 NP_001334883.1 rabphilin-3A isoform 1
NM_001347955.2 NP_001334884.1 rabphilin-3A isoform 3
NM_014954.4 NP_055769.2 rabphilin-3A isoform 2

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
11377421 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RPH3A Protein Structure

FYVE_2

FYVE_2: FYVE-type zinc finger (49 - 160)

C2

C2: C2 domain (409 - 497)

C2

C2: C2 domain (567 - 654)

  • 0
  • 200
  • 400
  • 600
  • 694 a.a.
Protein Preferred Names Protein Names

rabphilin-3A

  • exophilin-1

RPH3A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RPH3A Q9Y2J0 CASK Homo sapiens O14936
Pull Down
11377421
Intra
RPH3A Q9Y2J0 CASK Homo sapiens O14936
Y2H
11377421
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Martsolf Syndrome 1

  • Martsolf Syndrome

  • Cataract-Intellectual Disability-Hypogonadism Syndrome

  • MARTS1

  • Marts

  • Cataract-Mental Retardation-Hypogonadism

  • Martsolf
Central Diabetes Insipidus

  • Neurogenic Diabetes Insipidus

  • Diabetes Insipidus Cranial Type

  • Diabetes Insipidus Neurogenic

  • Diabetes Insipidus Neurohypophyseal

  • Neurohypophyseal Diabetes Insipidus

  • Pituitary Diabetes Insipidus

  • Cdi

  • Doid:0081055

  • Diabetes Insipidus

  • Di - [Diabetes Insipidus]

  • Adh - [Antidiuretic Hormone Secretion] Deficiency

  • Diabetes Mellitus Insipidus

  • Familial Diabetes Insipidus

  • Antidiuretic Hormone Hyposecretion

  • Vasopressin Deficiency Syndrome

  • Primary Central Diabetes Insipidus

  • Vasopressin Deficiency

  • Vasopressin Hyposecretion

  • Diabetes Insipidus Secondary To Vasopressin Deficiency
Brain Germinoma

  • Intracranial Germinoma

  • Germinoma Of The Brain
Autism Spectrum Disorder

  • Asd

  • Autism Spectrum Disorders

  • Autistic Continuum

  • Pervasive Developmental Disorder

  • Pervasive Development Disorder

  • Autistic Behavior

  • Autistic Disorder

  • Autistic

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Childhood Autism

  • Kanner Syndrome

  • Pervasive Developmental Delay Nos

  • Pervasive Developmental Disorder, Not Otherwise Specified
Autism

  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS12157 RPH3A Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus RPH3A VGNC VGNC:64735
Bos taurus RPH3A VGNC VGNC:34106
Rattus norvegicus RPH3A RGD RGD:620073
Canis familiaris RPH3A VGNC VGNC:45713
Macaca mulatta RPH3A VGNC VGNC:77033
Mus musculus RPH3A MGD MGI:102788
Others RPH3A NCBI