Molecular Cloning and Characterization of a Novel Human C4orf13 Gene, Tentatively a Member of the Sodium Bile Acid Cotransporter Family

Abstract

By large-scale sequencing analysis of a human fetal brain cDNA library, we isolated a novel human cDNA (C4orf13). This cDNA is 2706 bp in length, encoding a 340-amino-acid polypeptide that contains a typical SBF (sodium bile acid cotransporter family) domain and ten possible transmembrane segments. The putative protein C4orf13 shows high similarity with its orthologs in Mus musculus and Xenopus laevis. Human C4orf13 is mapped to chromosome 4q31.2 and contains 12 exons. RT-PCR analysis shows that human C4orf13 is widely expressed in human tissues, and the expression levels in liver and lung are relatively high, expression levels in placenta, kidney, spleen, and thymus are moderate, low levels of expression are detected in heart, prostate, and testis.

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

“…SLC10A7, previously named C4orf13 17 , is a 340-amino acid 10-transmembrane-domain protein localized at the plasma membrane (confirmed by the immunocytofluorescence assay performed in this study). It is a member of the SLC10 family that comprises a Na + /taurocholate co-transporting polypeptide (SLC10A1) and an apical sodium-dependent bile acid transporter (SLC10A2).…”

“…In situ hybridization confirmed the broad expression of Slc10a7 mRNA expression in mouse as previously described 14 , 17 . SLC10A7 mRNA was more specifically expressed in tissues affected in patients, i.e., cartilage giving rise to long bones and long-bone growth plates (skeletal dysplasia), emerging teeth (amelogenesis imperfecta), lungs and developing heart (congenital heart defect in one patient), strengthening the implication of SLC10A7 deficiency in the occurrence of those clinical features.…”

Literature and patent analysis of the cloning and identification of human functional genes in China

“…The proteins encoded by MAP1LC3A, MAP1LC3B and MAP1LC3C participate in cellular autophagy and a new post-translational modification mechanism of the MAP1LC3B protein was discovered [62]. Using a human fetal brain cDNA library, a number of brain development associated genes were identified; they include BTBD8 [63], C14orf5 [64], C4orf13 [65], and SEC14L3 [66]. Moreover, HN1 and HN1L were proposed to be involved in embryo development [67].…”

中国人类功能基因克隆与鉴定研究的文献与专利分析

“…C4orf13 [65] , SEC14L3 [66] , 另外 HN1, HN1L 还被认为 可能和胚胎发育相关 [67] . 一大批生殖相关的基因被 克隆鉴定, 如 PPP3RL 在睾丸的成熟和产生精子中有 重要作用 [68] ; NDRG3 的 mRNA 在生精上皮细胞外层 聚集, 可能与精子发生相关 [69] .…”