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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) Band 4q35.1 Start 183,659,267 bp End 183,713,594 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8|8 B1.1 Start 47,943,150 bp End 47,986,505 bp
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 60684 320714 Ensembl ENSG00000168538 ENSMUSG00000038102 UniProt Q7Z392 B2RXC1 RefSeq (mRNA) NM_021942 NM_199053 NM_177240 RefSeq (protein) NP_068761 NP_951008 NP_796214 Location (UCSC) Chr 4: 183.66 – 183.71 Mb Chr 8: 47.94 – 47.99 Mb PubMed search
Wikidata
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Trafficking protein particle complex 11 is a protein that in humans is encoded by the TRAPPC11 gene.

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. .

References

1. ^ GRCh38: Ensembl release 89: ENSG00000168538 – Ensembl, May 2017
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.
5. "Entrez Gene: Trafficking protein particle complex 11". Retrieved 2017-10-11.

Further reading

• 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.

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