SEMA5A

SEMA5A
Identifiers
Aliases	SEMA5A , SEMAF, semF, semaphorin 5A
External IDs	OMIM: 609297; MGI: 107556; HomoloGene: 2949; GeneCards: SEMA5A; OMA:SEMA5A - orthologs
Gene location (Human) Chr. Chromosome 5 (human) [1] Band 5p15.31 Start 9,035,033 bp [1] End 9,546,075 bp [1]
Gene location (Mouse) Chr. Chromosome 15 (mouse) [2] Band 15 B3.1|15 13.02 cM Start 32,244,956 bp [2] End 32,696,487 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in metanephric glomerulus stromal cell of endometrium periodontal fiber synovial joint nipple olfactory bulb sural nerve parietal pleura trigeminal ganglion decidua Top expressed in molar internal carotid artery lateral septal nucleus vas deferens lateral geniculate nucleus external carotid artery medial geniculate nucleus human fetus ventricular zone ventromedial nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function chondroitin sulfate proteoglycan binding heparan sulfate proteoglycan binding syndecan binding semaphorin receptor binding neuropilin binding chemorepellent activity Cellular component membrane plasma membrane extracellular exosome integral component of membrane extracellular space Biological process negative regulation of endothelial cell apoptotic process negative regulation of cell adhesion cell differentiation positive regulation of protein kinase B signaling positive regulation of endothelial cell proliferation positive regulation of endothelial cell chemotaxis cell-cell signaling positive regulation of axon extension involved in axon guidance blood vessel endothelial cell proliferation involved in sprouting angiogenesis nervous system development positive regulation of angiogenesis multicellular organism development diencephalon development cell adhesion signal clustering cell chemotaxis positive chemotaxis axonal fasciculation positive regulation of actin filament depolymerization negative regulation of axon extension involved in axon guidance negative chemotaxis neural crest cell migration positive regulation of cell migration semaphorin-plexin signaling pathway positive regulation of canonical Wnt signaling pathway axon extension neuron projection guidance Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9037 20356 Ensembl ENSG00000112902 ENSMUSG00000022231 UniProt Q13591 Q62217 Q3UPZ0 RefSeq (mRNA) NM_003966 NM_009154 RefSeq (protein) NP_003957 NP_033180 Location (UCSC) Chr 5: 9.04 – 9.55 Mb Chr 15: 32.24 – 32.7 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000112902 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022231 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "Entrez Gene: SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A".
8. 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.
9. 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.