SEMA5A

SEMA5A
Identifiers
Aliases	SEMA5A, SEMAF, semF, semaphorin 5A
External IDs	OMIM: 609297 MGI: 107556 HomoloGene: 2949 GeneCards: SEMA5A
Gene location (Human)
Chr.	Chromosome 5 (human)[1]
End	9,546,075 bp[1]
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)[2]
End	32,696,487 bp[2]
RNA expression pattern
	Top expressed in
	metanephric glomerulus; ; stromal cell of endometrium; ; periodontal fiber; ; synovial joint; ; nipple; ; olfactory bulb; ; sural nerve; ; parietal pleura; ; trigeminal ganglion; ; germinal epithelium;
	Top expressed in
	molar; ; internal carotid artery; ; vas deferens; ; lateral geniculate nucleus; ; external carotid artery; ; medial geniculate nucleus; ; ventromedial nucleus; ; cumulus cell; ; body of femur; ; medial dorsal nucleus;
	More reference expression data
	; ;
	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
	9037
	20356
	ENSG00000112902
	ENSMUSG00000022231
	Q13591
	Q62217; Q3UPZ0
	NM_003966
	NM_009154
	NP_003957
	NP_033180
	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

GRCh38: Ensembl release 89: ENSG00000112902 - Ensembl, May 2017
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.
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.
"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.

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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000112902 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[Adams_1997-5] 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.

[pmid9464278-6] 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.

[entrez-7] "Entrez Gene: SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A".

[pmid26395558-8] 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.

[pmid34045951-9] 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.

SEMA5A

References

Further reading