Other entities represented in this entry:
HGNC Approved Gene Symbol: GPR137B
Cytogenetic location: 1q42.3 Genomic coordinates (GRCh38): 1:236,142,539-236,208,907 (from NCBI)
A series of complex changes in gene expression occurs during kidney development, a process that culminates in the formation of mature nephrons. To isolate genes involved in nephrogenesis, Spangenberg et al. (1998) performed differential display using kidney mRNA from human adult and 22-week-old fetus. They identified TM7SF1, a gene that is transcriptionally upregulated during kidney development. RT-PCR detected 3 alternatively spliced TM7SF1 transcripts, which the authors named TM7SF1-long (TM7SF1L), TM7SF1-intermediate (TM7SF1I), and TM7SF1-short (TM7SF1S). TM7SF1L, the most abundant transcript, encodes a deduced 399-amino acid protein with 7 predicted transmembrane domains, a structural feature shared by all members of the G protein-coupled receptor superfamily. The TM7SF1L protein also contains a potential Asn-linked glycosylation site in its predicted extracellular N-terminal region, and several potential serine/threonine phosphorylation sites and a potential tyrosine phosphorylation site in its C-terminal tail. Compared to the TM7SF1L transcript, TM7SF1I lacks a 125-bp exon in the 3-prime region and encodes a predicted 328-amino acid 7-transmembrane domain protein with a truncated C-terminal domain. TM7SF1S lacks an additional 223-bp exon in the 5-prime region, resulting in a shifted open reading frame that encodes a predicted protein completely different from the TM7SF1L and TM7SF1I proteins. Northern blot analysis detected an approximately 2.4-kb TM7SF1 transcript at highest levels in human kidney and heart, with lower levels detected in brain and placenta. Additional experiments found TM7SF1 expression in spinal cord, caudate nucleus, and putamen. Studies on Wilms tumor samples showed variable TM7SF1 expression, ranging from nearly undetectable levels to an abundant level of expression comparable to that of adult kidney tissue.
By analysis of somatic cell hybrids, Spangenberg et al. (1998) mapped the TM7SF1 gene to chromosome 1. They localized the TM7SF1 gene to 1q42-q43 using FISH.
Spangenberg, C., Winterpacht, A., Zabel, B. U., Lobbert, R. W. Cloning and characterization of a novel gene (TM7SF1) encoding a putative seven-pass transmembrane protein that is upregulated during kidney development. Genomics 48: 178-185, 1998. [PubMed: 9521871] [Full Text: https://doi.org/10.1006/geno.1997.5170]