SEMA5A

Protein-coding gene in the species Homo sapiens
SEMA5A
Identifiers
AliasesSEMA5A, SEMAF, semF, semaphorin 5A
External IDsOMIM: 609297; MGI: 107556; HomoloGene: 2949; GeneCards: SEMA5A; OMA:SEMA5A - orthologs
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for SEMA5A
Genomic location for SEMA5A
Band5p15.31Start9,035,033 bp[1]
End9,546,075 bp[1]
Gene location (Mouse)
Chromosome 15 (mouse)
Chr.Chromosome 15 (mouse)[2]
Chromosome 15 (mouse)
Genomic location for SEMA5A
Genomic location for SEMA5A
Band15 B3.1|15 13.02 cMStart32,244,956 bp[2]
End32,696,487 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 15: 32.24 – 32.7 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000112902 – Ensembl, May 2017
  2. ^ a b c 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. ^ 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.
  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. ^ 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".
  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.


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