VPS13D

Protein-coding gene in the species Homo sapiens
VPS13D
Identifiers
AliasesVPS13D, vacuolar protein sorting 13 homolog D, SCAR4
External IDsOMIM: 608877; MGI: 2448530; HomoloGene: 15583; GeneCards: VPS13D; OMA:VPS13D - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for VPS13D
Genomic location for VPS13D
Band1p36.22-p36.21Start12,230,030 bp[1]
End12,512,047 bp[1]
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)[2]
Chromosome 4 (mouse)
Genomic location for VPS13D
Genomic location for VPS13D
Band4|4 E1Start144,699,192 bp[2]
End144,921,575 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 4: 144.7 – 144.92 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000048707 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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.


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