Homo sapiens Protein: SEMA4A | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-103411.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | SEMA4A | ||||||||||||||||||
Protein Name | sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000357265 | ||||||||||||||||||
InnateDB Gene | IDBG-103399 (SEMA4A) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | Cell surface receptor for PLXNB1, PLXNB2, PLXNB3 and PLXND1 that plays an important role in cell-cell signaling. Plays a role in priming antigen-specific T-cells, promotes differentiation of Th1 T-helper cells, and thereby contributes to adaptive immunity. Promotes phosphorylation of TIMD2. Inhibits angiogenesis. Promotes axon growth cone collapse. Inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons (By similarity). {ECO:0000250}. | ||||||||||||||||||
Subcellular Localization | Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. | ||||||||||||||||||
Disease Associations | Retinitis pigmentosa 35 (RP35) [MIM:610282]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:16199541}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cone-rod dystrophy 10 (CORD10) [MIM:610283]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO:0000269PubMed:16199541}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | |||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR001627
Sema domain IPR002165 Plexin IPR016201 Plexin-like fold |
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PFAM |
PF01403
PF01437 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00630
SM00423 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q9H3S1 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q9H3S1 | ||||||||||||||||||
TrEMBL | Q9HA40 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 64218 | ||||||||||||||||||
UniGene | Hs.408846 | ||||||||||||||||||
RefSeq | |||||||||||||||||||
HUGO | HGNC:10729 | ||||||||||||||||||
OMIM | 607292 | ||||||||||||||||||
CCDS | CCDS1132 | ||||||||||||||||||
HPRD | 09528 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB029394 AK022349 AK091127 AK290353 AK296693 AK315547 AL135927 AY358531 BC020974 | ||||||||||||||||||
GenPept | AAH20974 AAQ88895 BAB14018 BAB20087 BAF83042 BAG37925 BAG52288 BAG59287 CAI15530 CAI15533 | ||||||||||||||||||