VPS13D

VPS13D
Identifiers
Aliases	VPS13D , vacuolar protein sorting 13 homolog D, SCAR4
External IDs	OMIM: 608877; MGI: 2448530; HomoloGene: 15583; GeneCards: VPS13D; OMA:VPS13D - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1p36.22-p36.21 Start 12,230,030 bp [1] End 12,512,047 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4|4 E1 Start 144,699,192 bp [2] End 144,921,575 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of leg skin of abdomen sural nerve left ventricle right lobe of thyroid gland tibial arteries left lobe of thyroid gland apex of heart canal of the cervix tendon Top expressed in hand granulocyte otolith organ utricle neural layer of retina muscle of thigh esophagus epithelium of small intestine dentate gyrus of hippocampal formation granule cell thymus More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse Entrez 55187 230895 Ensembl ENSG00000048707 ENSMUSG00000020220 UniProt Q5THJ4 n/a RefSeq (mRNA) NM_018156 NM_015378 NM_001033190 NM_001128198 NM_001276465 NM_001276502 RefSeq (protein) NP_056193 NP_060626 n/a Location (UCSC) Chr 1: 12.23 – 12.51 Mb Chr 4: 144.7 – 144.92 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Vacuolar protein sorting-associated protein 13D is a protein that in humans is encoded by the VPS13D gene. ^[5]

This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment.

While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. ^[5]

References

1. GRCh38: Ensembl release 89: ENSG00000048707 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020220 – 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: VPS13D vacuolar protein sorting 13 homolog D (S. cerevisiae)".

Further reading

• Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID   8619474.
• Yu W, Andersson B, Worley KC, et al. (1997). "Large-Scale Concatenation cDNA Sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC   139146 . PMID   9110174.
• Seki N, Ohira M, Nagase T, et al. (1998). "Characterization of cDNA clones in size-fractionated cDNA libraries from human brain". DNA Res. 4 (5): 345–9. doi: 10.1093/dnares/4.5.345 . PMID   9455484.
• Nakayama M, Kikuno R, Ohara O (2003). "Protein–Protein Interactions Between Large Proteins: Two-Hybrid Screening Using a Functionally Classified Library Composed of Long cDNAs". Genome Res. 12 (11): 1773–84. doi:10.1101/gr.406902. PMC   187542 . PMID   12421765.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Velayos-Baeza A, Vettori A, Copley RR, et al. (2005). "Analysis of the human VPS13 gene family". Genomics. 84 (3): 536–49. doi:10.1016/j.ygeno.2004.04.012. PMID   15498460.
• Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi: 10.1038/nature04727 . PMID   16710414.