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VPS37D SUBUNIT OF ESCRT-I; VPS37D

VPS37D SUBUNIT OF ESCRT-I; VPS37D

Alternative titles; symbolsVACUOLAR PROTEIN SORTING 37, YEAST, HOMOLOG OF, DWILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 24; WBSCR24HGNC Approved Gene Symbol: VPS3...

Alternative titles; symbols

  • VACUOLAR PROTEIN SORTING 37, YEAST, HOMOLOG OF, D
  • WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 24; WBSCR24

HGNC Approved Gene Symbol: VPS37D

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:73,665,345-73,672,109 (from NCBI)

▼ Cloning and Expression

By searching a database for sequences homologous to yeast Vps37, Stuchell et al. (2004) identified human VPS37D. The deduced 316-amino acid protein has a central mod(r) (modifier of rudimentary) domain containing 2 coiled-coil motifs.

By searching EST databases for sequences mapping to the region of chromosome 7 deleted in Williams-Beuren syndrome (WBS; 194050), Micale et al. (2008) identified and cloned VPS37D, which they called WBSCR24. They also identified the mouse Wbscr24 gene. Northern blot analysis detected several variants of mouse Wbscr24 that were widely expressed in a tissue-specific manner. Expression of Wbscr24 was highest in brain, kidney, and skeletal muscle.

▼ Mapping

By genomic sequence analysis, Micale et al. (2008) mapped the VPS37D gene to chromosome 7q11.23 within the interval deleted in WBS. They mapped the mouse Vps37D gene to a syntenic region of chromosome 5G1.

Tags: 7q11.23