Rph3al rabphilin 3A-like (without C2 domains) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rph3alprovided by MGI
Official Full Name: rabphilin 3A-like (without C2 domains)provided by MGI
Primary source: MGI:MGI:1923492
See related: Ensembl:ENSMUSG00000020847 AllianceGenome:MGI:1923492
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Noc2; Gm1753
Summary: Predicted to enable LIM domain binding activity. Involved in glucose homeostasis and positive regulation of insulin secretion. Acts upstream of or within negative regulation of G protein-coupled receptor signaling pathway and regulation of calcium ion-dependent exocytosis. Predicted to be located in secretory granule membrane. Orthologous to human RPH3AL (rabphilin 3A like (without C2 domains)). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in ovary adult (RPKM 6.6), stomach adult (RPKM 5.2) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B5; 11 45.92 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (75721818..75858440, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (75830992..75967614, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These results suggest that the dual effector, Noc2, regulates the transition from Rab2a-mediated granule biogenesis to Rab27a-mediated granule exocytosis.
Title: Rab2a and Rab27a cooperatively regulate the transition from granule maturation to exocytosis through the dual effector Noc2.
In pancreatic acinar cells, Noc2 is not indispensable for the membrane fusion of ZG per se, but instead performs a novel function favoring agonist-induced physiological [Ca(2+)](i) increases.
Title: A novel function of Noc2 in agonist-induced intracellular Ca2+ increase during zymogen-granule exocytosis in pancreatic acinar cells.
investigated localization of Noc2 immunohistochemically in various endocrine and exocrine tissues in normal mice, including pancreatic islets, the adrenal gland, pituitary gland, salivary gland, and thyroid gland
Title: Cellular expression of Noc2, a Rab effector protein, in endocrine and exocrine tissues in the mouse.
Results show that Noc2, a critical effector of Rab3, is essential in normal regulation of exocytosis in both endocrine and exocrine cells.
Title: Noc2 is essential in normal regulation of exocytosis in endocrine and exocrine cells.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI551877 (e-PCR)
- UniSTS:165774

AU040152 (e-PCR)
- UniSTS:179420

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables LIM domain binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in glucose homeostasis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within glucose homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of insulin secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein secretion	ISO Inferred from Sequence Orthology more info
involved_in regulation of calcium ion-dependent exocytosis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of calcium ion-dependent exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spontaneous neurotransmitter secretion	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in secretory granule	ISO Inferred from Sequence Orthology more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: rab effector Noc2

Names: no C2 domains protein; rabphilin-3A-like protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001291159.1 → NP_001278088.1 rab effector Noc2 isoform 2

See identical proteins and their annotated locations for NP_001278088.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks several exons, and uses an alternate 3'-terminal exon, compared to variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK018335, CO800159, DV653859

Consensus CDS

CCDS70243.1

UniProtKB/Swiss-Prot

Q768S4

Related

ENSMUSP00000021208.5, ENSMUST00000021208.11

Conserved Domains (1) summary

cl22851
Location:45 → 117

PHD_SF; PHD finger superfamily
NM_029548.4 → NP_083824.1 rab effector Noc2 isoform 1

See identical proteins and their annotated locations for NP_083824.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AA616014, AI594476, BQ176035, BU610075, BX631599, DV651301, DV660756

Consensus CDS

CCDS25058.1

UniProtKB/Swiss-Prot

Q768S4, Q9D353

Related

ENSMUSP00000064202.5, ENSMUST00000066504.11

Conserved Domains (1) summary

pfam02318
Location:45 → 159

FYVE_2; FYVE-type zinc finger