Protein-coding gene in the species Homo sapiens
SEMA5A |
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Identifiers |
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Aliases | SEMA5A, SEMAF, semF, semaphorin 5A |
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External IDs | OMIM: 609297; MGI: 107556; HomoloGene: 2949; GeneCards: SEMA5A; OMA:SEMA5A - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 5 (human)[1] |
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| Band | 5p15.31 | Start | 9,035,033 bp[1] |
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End | 9,546,075 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 15 (mouse)[2] |
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| Band | 15 B3.1|15 13.02 cM | Start | 32,244,956 bp[2] |
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End | 32,696,487 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - metanephric glomerulus
- stromal cell of endometrium
- periodontal fiber
- synovial joint
- nipple
- olfactory bulb
- sural nerve
- parietal pleura
- trigeminal ganglion
- decidua
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| 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
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| More reference expression data |
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BioGPS |
| More reference expression data |
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Gene ontology |
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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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 5: 9.04 – 9.55 Mb | Chr 15: 32.24 – 32.7 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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.