Entity Details

Primary name SEM4A_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H3S1
EntryNameSEM4A_HUMAN
FullNameSemaphorin-4A
TaxID9606
Evidenceevidence at protein level
Length761
SequenceStatuscomplete
DateCreated2002-05-02
DateModified2021-06-02

Ontological Relatives

GenesSEMA4A

GO terms

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GOName
GO:0001525 angiogenesis
GO:0001755 neural crest cell migration
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0007411 axon guidance
GO:0008360 regulation of cell shape
GO:0010594 regulation of endothelial cell migration
GO:0016525 negative regulation of angiogenesis
GO:0030215 semaphorin receptor binding
GO:0030335 positive regulation of cell migration
GO:0045063 T-helper 1 cell differentiation
GO:0045499 chemorepellent activity
GO:0048843 negative regulation of axon extension involved in axon guidance
GO:0050919 negative chemotaxis
GO:0071526 semaphorin-plexin signaling pathway
GO:1904891 positive regulation of excitatory synapse assembly
GO:1905704 positive regulation of inhibitory synapse assembly

Subcellular Location

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Subcellular Location
Cell membrane

Domains

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DomainNameCategoryType
IPR001627 Sema domainDomainDomain
IPR002165 Plexin repeatRepeatRepeat
IPR015943 WD40/YVTN repeat-like-containing domain superfamilyFamilyHomologous superfamily
IPR016201 PSI domainDomainDomain
IPR027231 SemaphorinFamilyFamily
IPR036352 Sema domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
610282 OMIMRetinitis pigmentosa 35 (RP35)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. The disease is caused by variants affecting the gene represented in this entry.
610283 OMIMCone-rod dystrophy 10 (CORD10)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, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. The disease is caused by variants affecting the gene represented in this entry.