RPH3A - rabphilin 3A Gene

Homo sapiens

Gene ID: 22895 | Gene type: protein coding

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

RPH3A Protein Structure

FYVE_2

0
200
400
600
694 a.a.

Protein Preferred Names

Protein Names

rabphilin-3A

exophilin-1

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12157	RPH3A Human Pre-designed siRNA Set A		/	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

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