Protein-coding gene in the species Homo sapiens
Semaphorin-5A is a protein that in humans is encoded by the SEMA5A gene .[ 5] [ 6] [ 7]
Members of the semaphorin protein family, such as SEMA5A, are involved in axonal guidance during neural development .[ 7] [ 5]
Semaphorin 5A also plays a role in autism , reducing the ability of neurons to form connections with other neurons in certain brain regions.[ 8] [ 9]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000112902 – Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022231 – Ensembl , May 2017
^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ a b Adams RH, Betz H, Püschel AW (June 1996). "A novel class of murine semaphorins with homology to thrombospondin is differentially expressed during early embryogenesis" . Mechanisms of Development . 57 (1): 33–45. doi :10.1016/0925-4773(96)00525-4 . PMID 8817451 . S2CID 17827262 .
^ Simmons AD, Püschel AW, McPherson JD, Overhauser J, Lovett M (January 1998). "Molecular cloning and mapping of human semaphorin F from the Cri-du-chat candidate interval". Biochemical and Biophysical Research Communications . 242 (3): 685–691. doi :10.1006/bbrc.1997.8027 . PMID 9464278 .
^ a b "Entrez Gene: SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A" .
^ Mosca-Boidron AL, Gueneau L, Huguet G, Goldenberg A, Henry C, Gigot N, et al. (June 2016). "A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability" . European Journal of Human Genetics . 24 (6): 838–843. doi :10.1038/ejhg.2015.211 . PMC 4867450 . PMID 26395558 .
^ Carulli D, de Winter F, Verhaagen J (2021). "Semaphorins in Adult Nervous System Plasticity and Disease" . Frontiers in Synaptic Neuroscience . 13 : 672891. doi :10.3389/fnsyn.2021.672891 . PMC 8148045 . PMID 34045951 .
Further reading
Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery" . Genome Research . 6 (9): 791–806. doi :10.1101/gr.6.9.791 . PMID 8889548 .
Simmons AD, Overhauser J, Lovett M (February 1997). "Isolation of cDNAs from the Cri-du-chat critical region by direct screening of a chromosome 5-specific cDNA library" . Genome Research . 7 (2): 118–127. doi :10.1101/gr.7.2.118 . PMID 9049630 .
Artigiani S, Conrotto P, Fazzari P, Gilestro GF, Barberis D, Giordano S, et al. (July 2004). "Plexin-B3 is a functional receptor for semaphorin 5A" . EMBO Reports . 5 (7): 710–714. doi :10.1038/sj.embor.7400189 . PMC 1299100 . PMID 15218527 .
Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, et al. (August 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins" . Proceedings of the National Academy of Sciences of the United States of America . 101 (33): 12130–12135. Bibcode :2004PNAS..10112130B . doi :10.1073/pnas.0404720101 . PMC 514446 . PMID 15302935 .
Schmutz J, Martin J, Terry A, Couronne O, Grimwood J, Lowry S, et al. (September 2004). "The DNA sequence and comparative analysis of human chromosome 5" . Nature . 431 (7006): 268–274. Bibcode :2004Natur.431..268S . doi :10.1038/nature02919 . PMID 15372022 .
Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes" . Genome Research . 16 (1): 55–65. doi :10.1101/gr.4039406 . PMC 1356129 . PMID 16344560 .
Melin M, Carlsson B, Anckarsater H, Rastam M, Betancur C, Isaksson A, et al. (2007). "Constitutional downregulation of SEMA5A expression in autism" . Neuropsychobiology . 54 (1): 64–69. doi :10.1159/000096040 . PMC 2553518 . PMID 17028446 .