RPH3AL

RPH3AL
Identifiers
Aliases	RPH3AL , NOC2, rabphilin 3A-like (without C2 domains), rabphilin 3A like (without C2 domains)
External IDs	OMIM: 604881 MGI: 1923492 HomoloGene: 5078 GeneCards: RPH3AL
Gene location (Human)
Chr.	Chromosome 17 (human)
End	386,254 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	75,829,255 bp
RNA expression pattern
	Top expressed in
	body of pancreas; ; anterior pituitary; ; islet of Langerhans; ; Right adrenal gland; ; sural nerve; ; right lobe of liver; ; right lobe of thyroid gland; ; left lobe of thyroid gland; ; upper lobe of left lung; ; spleen;
	Top expressed in
	islet of Langerhans; ; Epithelium of stomach; ; secondary oocyte; ; otolith organ; ; utricle; ; pituitary gland; ; Paneth cell; ; external carotid artery; ; internal carotid artery; ; cumulus cell;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	calcium ion binding ; metal ion binding ; cytoskeletal protein binding ; protein binding ; calcium-dependent phospholipid binding ; LIM domain binding ;
Cellular component	cytoplasm ; secretory granule membrane ; membrane ; transport vesicle membrane ; secretory granule ; cytoplasmic vesicle ; plasma membrane ; intracellular anatomical structure ;
Biological process	glucose homeostasis ; regulation of exocytosis ; positive regulation of protein secretion ; intracellular protein transport ; negative regulation of G protein-coupled receptor signaling pathway ; exocytosis ; regulation of calcium ion-dependent exocytosis ; positive regulation of insulin secretion ;
	Sources:Amigo / QuickGO
Orthologs
	9501
	380714
	ENSG00000181031 ; ENSG00000262334 ; ENSG00000282013
	ENSMUSG00000020847
	Q9UNE2
	Q768S4
	NM_001190411 ; NM_001190412 ; NM_001190413 ; NM_006987
	NM_001291159 ; NM_029548
	NP_001177340 ; NP_001177341 ; NP_001177342 ; NP_008918
	NP_001278088 ; NP_083824
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated October 14, 2022

Rab effector Noc2 is a protein that in humans is encoded by the RPH3AL gene.^[5]^[6]

Interactions

RPH3AL has been shown to interact with RAB27A.^[7]^[8]

Related Research Articles

Ras-related protein Rab-11A is a protein that in humans is encoded by the RAB11A gene.

Ras-related protein Rab-3A is a protein that in humans is encoded by the RAB3A gene. It is involved in calcium-triggered exocytosis in neurons.

Syntaxin-4 is a protein that in humans is encoded by the STX4 gene.

Syntaxin-binding protein 1 is a protein that in humans is encoded by the STXBP1 gene. This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with neurological disorders including epilepsy, intellectual disability, and movement disorders.

Regulating synaptic membrane exocytosis protein 1 is a protein that in humans is encoded by the RIMS1 gene.

Rabphilin-3A is a protein that in humans is encoded by the RPH3A gene. It contains two C2 domains and binds calcium ions at low micromolar concentration. Rabphilin was shown to regulate neurotransmitter release in hippocampal neurons after neurons had an increased synaptic activity and their release rate was depressed.

Synaptotagmin-like protein 4 is a protein that in humans is encoded by the SYTL4 gene.

Ras-related protein Rab-3B is a protein that in humans is encoded by the RAB3B gene.

Regulating synaptic membrane exocytosis protein 2 is a protein that in humans is encoded by the RIMS2 gene.

Synaptotagmin-2 is a protein that in humans is encoded by the SYT2 gene.

Rab3 GTPase-activating protein catalytic subunit is an enzyme that in humans is encoded by the RAB3GAP1 gene.

Ras-related protein Rab-3D is a protein that in humans is encoded by the RAB3D gene.

Ras-related protein Rab-10 is a protein that in humans is encoded by the RAB10 gene.

Synaptotagmin-like protein 1 is a protein that in humans is encoded by the SYTL1 gene.

Ras-related protein Rab-40A is a protein that in humans is encoded by the RAB40A gene.

Ras-related protein Rab-15 is a protein that in humans is encoded by the RAB15 gene.

Ras-related protein Rab-27A is a protein that in humans is encoded by the RAB27A gene.

Ras-related protein Rab-26 is a protein that in humans is encoded by the RAB26 gene.

Ras-related protein Rab-37 is a protein that in humans is encoded by the RAB37 gene.

Ras-related protein Rab-3C is a protein that in humans is encoded by the RAB3C gene.

References

1 2 3 ENSG00000262334, ENSG00000282013 GRCh38: Ensembl release 89: ENSG00000181031, ENSG00000262334, ENSG00000282013 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020847 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Smith JS, Tachibana I, Allen C, Chiappa SA, Lee HK, McIver B, Jenkins RB, Raffel C (July 1999). "Cloning of a human ortholog (RPH3AL) of (RNO)Rph3al from a candidate 17p13.3 medulloblastoma tumor suppressor locus". Genomics. 59 (1): 97–101. doi:10.1006/geno.1999.5864. PMID 10395805.
↑ "Entrez Gene: RPH3AL rabphilin 3A-like (without C2 domains)".
↑ Cheviet S, Coppola T, Haynes LP, Burgoyne RD, Regazzi R (January 2004). "The Rab-binding protein Noc2 is associated with insulin-containing secretory granules and is essential for pancreatic beta-cell exocytosis". Molecular Endocrinology. 18 (1): 117–26. doi: 10.1210/me.2003-0300 . PMID 14593078.
↑ Fukuda M (April 2003). "Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2". The Journal of Biological Chemistry. 278 (17): 15373–80. doi: 10.1074/jbc.M212341200 . PMID 12578829.

Kotake K, Ozaki N, Mizuta M, Sekiya S, Inagaki N, Seino S (November 1997). "Noc2, a putative zinc finger protein involved in exocytosis in endocrine cells". The Journal of Biological Chemistry. 272 (47): 29407–10. doi: 10.1074/jbc.272.47.29407 . PMID 9367993.
Fenster SD, Chung WJ, Zhai R, Cases-Langhoff C, Voss B, Garner AM, Kaempf U, Kindler S, Gundelfinger ED, Garner CC (January 2000). "Piccolo, a presynaptic zinc finger protein structurally related to bassoon". Neuron. 25 (1): 203–14. doi: 10.1016/S0896-6273(00)80883-1 . PMID 10707984. S2CID 10177138.
Haynes LP, Evans GJ, Morgan A, Burgoyne RD (March 2001). "A direct inhibitory role for the Rab3-specific effector, Noc2, in Ca2+-regulated exocytosis in neuroendocrine cells". The Journal of Biological Chemistry. 276 (13): 9726–32. doi: 10.1074/jbc.M006959200 . PMID 11134008.
Goi T, Takeuchi K, Katayama K, Hirose K, Yamaguchi A (2003). "Mutations of rabphillin-3A-like gene in colorectal cancers". Oncology Reports. 9 (6): 1189–92. doi:10.3892/or.9.6.1189. PMID 12375017.
Milkereit P, Strauss D, Bassler J, Gadal O, Kühn H, Schütz S, Gas N, Lechner J, Hurt E, Tschochner H (February 2003). "A Noc complex specifically involved in the formation and nuclear export of ribosomal 40 S subunits". The Journal of Biological Chemistry. 278 (6): 4072–81. doi: 10.1074/jbc.M208898200 . PMID 12446671.
Fukuda M (April 2003). "Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2". The Journal of Biological Chemistry. 278 (17): 15373–80. doi: 10.1074/jbc.M212341200 . PMID 12578829.
Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH (April 2003). "Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3". American Journal of Human Genetics. 72 (4): 918–30. doi:10.1086/374320. PMC 1180354 . PMID 12621583.
Cheviet S, Coppola T, Haynes LP, Burgoyne RD, Regazzi R (January 2004). "The Rab-binding protein Noc2 is associated with insulin-containing secretory granules and is essential for pancreatic beta-cell exocytosis". Molecular Endocrinology. 18 (1): 117–26. doi: 10.1210/me.2003-0300 . PMID 14593078.
Manabe S, Nishimura N, Yamamoto Y, Kitamura H, Morimoto S, Imai M, Nagahiro S, Seino S, Sasaki T (March 2004). "Identification and characterization of Noc2 as a potential Rab3B effector protein in epithelial cells". Biochemical and Biophysical Research Communications. 316 (1): 218–25. doi:10.1016/j.bbrc.2004.02.026. PMID 15003533.
Matsumoto M, Miki T, Shibasaki T, Kawaguchi M, Shinozaki H, Nio J, Saraya A, Koseki H, Miyazaki M, Iwanaga T, Seino S (June 2004). "Noc2 is essential in normal regulation of exocytosis in endocrine and exocrine cells". Proceedings of the National Academy of Sciences of the United States of America. 101 (22): 8313–8. Bibcode:2004PNAS..101.8313M. doi: 10.1073/pnas.0306709101 . PMC 420391 . PMID 15159548.
Katkoori VR, Jia X, Chatla C, Kumar S, Ponnazhagan S, Callens T, Messiaen L, Grizzle WE, Manne U (January 2008). "Clinical significance of a novel single nucleotide polymorphism in the 5' untranslated region of the Rabphillin-3A-Like gene in colorectal adenocarcinoma". Frontiers in Bioscience. 13 (1): 1050–61. doi:10.2741/2742. PMC 2667692 . PMID 17981610.

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[refGRCh38Ensembl-1] 1 2 3 ENSG00000262334, ENSG00000282013 GRCh38: Ensembl release 89: ENSG00000181031, ENSG00000262334, ENSG00000282013 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020847 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10395805-5] Smith JS, Tachibana I, Allen C, Chiappa SA, Lee HK, McIver B, Jenkins RB, Raffel C (July 1999). "Cloning of a human ortholog (RPH3AL) of (RNO)Rph3al from a candidate 17p13.3 medulloblastoma tumor suppressor locus". Genomics. 59 (1): 97–101. doi:10.1006/geno.1999.5864. PMID 10395805.

[entrez-6] "Entrez Gene: RPH3AL rabphilin 3A-like (without C2 domains)".

[pmid14593078-7] Cheviet S, Coppola T, Haynes LP, Burgoyne RD, Regazzi R (January 2004). "The Rab-binding protein Noc2 is associated with insulin-containing secretory granules and is essential for pancreatic beta-cell exocytosis". Molecular Endocrinology. 18 (1): 117–26. doi: 10.1210/me.2003-0300 . PMID 14593078.

[pmid12578829-8] Fukuda M (April 2003). "Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2". The Journal of Biological Chemistry. 278 (17): 15373–80. doi: 10.1074/jbc.M212341200 . PMID 12578829.

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RPH3AL

Contents

Interactions

Related Research Articles

References

Further reading