C17ORF75

C17ORF75 Full Name

chromosome 17 open reading frame 75

C17ORF75 Introduction

C17orf75 (chromosome 17 open reading frame 75), also known as NJMU-R1 or SRI2 (sensitization to ricin complex subunit 2), is a protein‑coding gene located on human chromosome 17q11.2 -1. The gene spans approximately 21.5 kb and contains 12 exons, producing a protein of 396 amino acids with a molecular weight of about 44 kDa -8. C17orf75 is ubiquitously expressed in human tissues, with the highest expression levels observed in the testis, thyroid, and various other organs -1. Despite being identified over two decades ago, C17orf75 remains a relatively poorly characterized protein.

Figure 1. Strcuture of C17orf75.

Structural Domains and Protein Architecture
The C17orf75 protein contains a conserved domain known as the Njmu-R1-like protein family domain (pfam15053), which spans approximately residues 46 to 390 of the protein sequence . This domain is characteristic of the Njmu-R1 protein family and is evolutionarily conserved from humans to chickens, indicating its functional significance . The three-dimensional structure of C17orf75 has not yet been experimentally determined, but computational predictions suggest it adopts a globular fold typical of this protein family. The protein lacks any known signal peptide or transmembrane domain, consistent with its localization to the cytoplasm and vesicular compartments.

Role in Spermatogenesis and Testis Biology
C17orf75 is highly expressed in the testis, with expression levels significantly higher than in most other tissues . This testis‑enriched expression pattern, together with its presence in fetal testis, suggests an important role in spermatogenesis – the process of sperm cell development . The protein's function in vesicle trafficking may be particularly important in germ cells, where specialized vesicle‑mediated transport is required for acrosome formation, flagellum development, and the removal of excess cytoplasm during spermiogenesis.

Alternate Names for C17ORF75

C17ORF75; chromosome 17 open reading frame 75; protein Njmu-R1; NJMU R1; Njmu R1; Protein kinase Njmu R1; Protein Njmu R1; spermatogenesis-related protein; NJMU-R1;