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Link to original content: http://omim.org/entry/612869
Alternative titles; symbols
HGNC Approved Gene Symbol: ATRNL1
Cytogenetic location: 10q25.3 Genomic coordinates (GRCh38) : 10:115,093,365-115,948,999 (from NCBI)
By sequencing clones from a size-fractionated human brain cDNA library, Nagase et al. (1998) cloned ATRNL1, which they designated KIAA0534.
By a yeast 2-hybrid screen of a brain cDNA library using the mouse melanocortin-4 receptor (MC4R; 155541) intracellular tail as bait, Haqq et al. (2003) cloned the mouse homolog of ATRNL1. The mouse protein shares 63% sequence identity with the C-terminal part of the mouse attractin gene product (ATRN; 603130), which is required for agouti (600201) signaling through the melanocortin-1 receptor (MC1R; 155555). Northern blot analysis of mouse tissues detected a major 8.5-kb Atrnl1 transcript at high levels in brain, kidney, heart, lung, and liver, and at low levels in spleen, skeletal muscle, and testis. Three minor transcripts were also detected: a 5.5-kb transcript in heart, brain, and kidney, a 5-kb transcript in liver only, and a 5.4-kb transcript in testis only. The tissue expression of Atrnl1 is similar to that of Atrn. RT-PCR analysis showed expression of Atrnl1 from embryonic day 7 throughout development.
Using GST pull-down assays, Haqq et al. (2003) confirmed direct interaction between the C termini of mouse Atrnl1 and Mc4r. Colocalization analyses showed coexpression of Atrnl1 in cells expressing Mc4r in several regions known to be important in the regulation of energy homeostasis by melanocortins, such as the paraventricular nucleus of the hypothalamus and the dorsal motor nucleus of the vagus.
By radiation hybrid analysis, Nagase et al. (1998) mapped the KIAA0534 gene to chromosome 10.
Haqq, A. M., Rene, P., Kishi, T., Khong, K., Lee, C. E., Liu, H., Friedman, J. M., Elmquist, J. K., Cone, R. D. Characterization of a novel binding partner of the melanocortin-4 receptor: attractin-like protein. Biochem. J. 376: 595-605, 2003. [PubMed: 14531729] [Full Text: https://doi.org/10.1042/BJ20031241]
Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res. 5: 31-39, 1998. [PubMed: 9628581] [Full Text: https://doi.org/10.1093/dnares/5.1.31]