Alternative titles; symbols
HGNC Approved Gene Symbol: SSC4D
Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38) : 7:76,389,337-76,409,697 (from NCBI)
The scavenger receptor cysteine-rich (SRCR) superfamily is an ancient and highly conserved group of cell surface and/or secreted proteins, some of which are involved in the development of the immune system and the regulation of both innate and adaptive immune responses. Group B SRCR domains usually contain 8 regularly spaced cysteines that give rise to a well-defined intradomain disulfide-bond pattern.
By screening EST databases for proteins similar to CD5 (153340) and/or CD6 (186720), followed by 5-prime RACE of a stomach cDNA library, Padilla et al. (2002) obtained a full-length cDNA encoding SRCRB4D. The deduced full-length protein contains 575 amino acids. Use of an alternate translation initiation codon predicts a 569-amino acid protein containing a putative hydrophobic signal sequence and a peptidase cleavage site, resulting in a mature protein of 528 amino acids with a calculated molecular mass of about 55.6 kD. SRCRB4D contains 4 group B SRCR domains of 101 amino acids separated by PST-rich regions. SRCRB4D has no N-glycosylation site or transmembrane region. Northern blot analysis detected a 2.8-kb transcript expressed mainly in kidney and placenta and a 1.5-kb transcript with a more widespread distribution. A similar mRNA expression pattern was found in several tumor cell lines.
Padilla et al. (2002) determined that the SRCRB4D gene contains at least 11 exons and spans more than 20 kb.
By genomic sequence analysis and radiation hybrid analysis, Padilla et al. (2002) mapped the SRCRB4D gene to chromosome 7q11.23, telomeric to the Williams-Beuren syndrome (194050) deletion region and oriented tail-to-head relative to the centromere. Southern blot analysis determined that SRCRB4D is a single-copy gene.
Padilla, O., Pujana, M. A., Lopez-de la Iglesia, A., Gimferrer, I., Arman, M., Vila, J. M., Places, L., Vives, J., Estivill, X., Lozano, F. Cloning of S4D-SRCRB, a new soluble member of the group B scavenger receptor cysteine-rich family (SRCR-SF) mapping to human chromosome 7q11.23. Immunogenetics 54: 621-634, 2002. [PubMed: 12466895] [Full Text: https://doi.org/10.1007/s00251-002-0507-z]