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CHROMOSOME 11 OPEN READING FRAME 54; C11ORF54

CHROMOSOME 11 OPEN READING FRAME 54; C11ORF54

Alternative titles; symbolsPTD012HGNC Approved Gene Symbol: C11orf54Cytogenetic location: 11q21 Genomic coordinates (GRCh38): 11:93,741,671-93,764,748 (from ...

Alternative titles; symbols

  • PTD012

HGNC Approved Gene Symbol: C11orf54

Cytogenetic location: 11q21 Genomic coordinates (GRCh38): 11:93,741,671-93,764,748 (from NCBI)

▼ Cloning and Expression
Manjasetty et al. (2006) reported that the C11ORF54 gene, which they called PTD012, generates 6 splice variants. One of the longer isoforms, which contains 315 amino acids, has orthologs in mouse, fish, fly, fungus, and nematode.

▼ Gene Function
Manjasetty et al. (2006) found that the recombinant 315-amino acid isoform of human PTD012 showed ester hydrolase activity against p-nitrophenyl acetate, forming nitrophenolate and acetate, when expressed in E. coli. PTD012 did not show carbonic anhydrase or carboxypeptidase activity.

▼ Biochemical Features
By examining the crystal structure of recombinant human PTD012, Manjasetty et al. (2006) concluded that the protein exists as a monomer in solution. PTD012 assumed a roughly globular shape, composed of 20 beta strands and 4 alpha helices, with a diameter of approximately 45 angstroms. Nine antiparallel beta strands formed a beta-screw region structurally similar to the cAMP-binding domain of the regulatory subunit of protein kinase A (PRKAR1A; 188830). This region of PTD012 and PRKAR1A also has an HxH motif that is predicted to coordinate zinc. The zinc-binding site of PTD012 bound an acetate molecule taken from the crystallization buffer. Manjasetty et al. (2006) noted that acetate is a product of hydrolysis of p-nitrophenyl acetate by PTD012, suggesting that acetate bound to zinc may represent an enzyme-product complex.

▼ Mapping
Hartz (2014) mapped the C11ORF54 gene to chromosome 11q21 based on an alignment of the C11ORF54 sequence (GenBank AF092133) with the genomic sequence (GRCh37).

Tags: 11q21