Trafficking protein particle complex 11

TRAPPC11
Identifiers
Aliases	TRAPPC11, C4orf41, FOIGR, GRY, LGMD2S, trafficking protein particle complex 11, LGMDR18, trafficking protein particle complex subunit 11
External IDs	OMIM: 614138; MGI: 2444585; HomoloGene: 11076; GeneCards: TRAPPC11; OMA:TRAPPC11 - orthologs
Gene location (Human)
Chr.	Chromosome 4 (human)
End	183,713,594 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	47,986,505 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; gonad; ; monocyte; ; ventricular zone; ; right adrenal cortex; ; cerebellar hemisphere; ; right ovary; ; left ovary; ; right hemisphere of cerebellum; ; tonsil;
	Top expressed in
	hand; ; otic vesicle; ; otolith organ; ; utricle; ; arcuate nucleus; ; superior cervical ganglion; ; parotid gland; ; ventromedial nucleus; ; median eminence; ; Gonadal ridge;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding;
Cellular component	cytosol; Golgi apparatus; TRAPP complex;
Biological process	vesicle-mediated transport; endoplasmic reticulum to Golgi vesicle-mediated transport; Golgi organization; protein complex oligomerization; regulation of protein complex stability;
	Sources:Amigo / QuickGO
Orthologs
	60684
	320714
	ENSG00000168538
	ENSMUSG00000038102
	Q7Z392
	B2RXC1
	NM_021942; NM_199053
	NM_177240
	NP_068761; NP_951008
	NP_796214
	Wikidata
View/Edit Human	View/Edit Mouse

Trafficking protein particle complex 11 is a protein that in humans is encoded by the TRAPPC11 gene. ^[5]

Function

The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013].

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000168538 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000038102 – 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.
^ "Entrez Gene: Trafficking protein particle complex 11". Retrieved 2017-10-11.

Bögershausen N, Shahrzad N, Chong JX, von Kleist-Retzow JC, Stanga D, Li Y, Bernier FP, Loucks CM, Wirth R, Puffenberger EG, Hegele RA, Schreml J, Lapointe G, Keupp K, Brett CL, Anderson R, Hahn A, Innes AM, Suchowersky O, Mets MB, Nürnberg G, McLeod DR, Thiele H, Waggoner D, Altmüller J, Boycott KM, Schoser B, Nürnberg P, Ober C, Heller R, Parboosingh JS, Wollnik B, Sacher M, Lamont RE (2013). "Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability". Am. J. Hum. Genet. 93 (1): 181–90. doi:10.1016/j.ajhg.2013.05.028. PMC 3710757. PMID 23830518.

This article on a gene on human chromosome 4 is a stub. You can help Wikipedia by expanding it.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000168538 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000038102 – 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.

[entrez-5] "Entrez Gene: Trafficking protein particle complex 11". Retrieved 2017-10-11.

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Function

References

Further reading