RPH3AL - rabphilin 3A like (without C2 domains) Gene

Also Known as NOC2

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 9501

About RPH3AL

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:212,389-352,807 (from NCBI)

This gene has 22 transcripts (splice variants), 1 gene allele, 102 orthologues and 31 paralogues. Ubiquitous expression in spleen (RPKM 3.5), thyroid (RPKM 2.9) and 24 other tissues.

Summary

The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in Insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010]

RPH3AL Products (4)

mRNA	Protein	Name
NM_001190411.2	NP_001177340.1	rab effector Noc2 isoform 1
NM_001190412.2	NP_001177341.1	rab effector Noc2 isoform 2
NM_001190413.2	NP_001177342.1	rab effector Noc2 isoform 2
NM_006987.4	NP_008918.1	rab effector Noc2 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	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

RPH3AL Protein Structure

FYVE_2

0
100
200
300
315 a.a.

Protein Preferred Names	Protein Names
rab effector Noc2	no C2 domains protein

RPH3AL Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	RPH3AL	Q9UNE2	MID2	Homo sapiens	Q9UJV3-2	Y2H Prey Pooling	25416956
Intra	RPH3AL	Q9UNE2	RAB27B	Homo sapiens	O00194	Y2H Prey Pooling	32296183
Intra	RPH3AL	Q9UNE2	PNMA3	Homo sapiens	Q9UL41	Y2H Prey Pooling	32296183
Intra	RPH3AL	Q9UNE2	PNMA3	Homo sapiens	Q9UL41	Y2H Array	32296183
Intra	RPH3AL	Q9UNE2	ANKRD11	Homo sapiens	X5D778	Validated Y2H	32296183
Intra	RPH3AL	Q9UNE2	PSME3	Homo sapiens	P61289	Y2H Array	32296183
Intra	RPH3AL	Q9UNE2	PSME3	Homo sapiens	P61289	Y2H Prey Pooling	32296183
Intra	RPH3AL	Q9UNE2	HNRNPK	Homo sapiens	P61978-2	Y2H Prey Pooling	32296183
Intra	RPH3AL	Q9UNE2	HNRNPK	Homo sapiens	P61978-2	Y2H Array	32296183
Intra	RPH3AL	Q9UNE2	KHDRBS3	Homo sapiens	O75525	Y2H Array	32296183
Intra	RPH3AL	Q9UNE2	KHDRBS3	Homo sapiens	O75525	Y2H Prey Pooling	32296183
Intra	RPH3AL	Q9UNE2	AIRIM	Homo sapiens	Q9NX04	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Medulloblastoma	MDB Cpnet Localized Primitive Neuroectodermal Tumor Classic Medulloblastoma Medulloblastoma Predisposition Syndrome Medulloblastoma, Somatic Brain Medulloblastoma Cns Pnet Infratentorial Primitive Neuroectodermal Tumor Neuroectodermal Tumors, Primitive Medulloblastomas Desmoplastic Medulloblastoma Medulloblastoma, With Extensive Nodularity Medulloblastoma Of Unspecified Site Medullomyoblastoma Of Unspecified Site
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	NSLH2
Opportunistic Bacterial Infectious Disease
Nocardiosis	Nocardia Infection Nocardia Infections Nocardia Infectious Disease Lung Nocardiosis Nocardiasis Nocardiosis Nos
Acute Contagious Conjunctivitis	Pink Eye Contagious Opthalmia Pinkeye Conjunctivitis Keratoconjunctivitis Due To Mycoplasma Conjunctivae

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)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS12158	RPH3AL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Bos taurus	RPH3AL	VGNC	VGNC:107275
Felis catus	RPH3AL	VGNC	VGNC:99435
Mus musculus	RPH3AL	MGD	MGI:1923492
Rattus norvegicus	RPH3AL	RGD	RGD:620342
Others	RPH3AL	NCBI