InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SEMA3A

Summary

InnateDB Protein

IDBP-380591.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SEMA3A

Protein Name

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A

Synonyms

coll-1; COLL1; HH16; Hsema-I; Hsema-III; SEMA1; SEMAD; SEMAIII; SEMAL; SemD;

Species

Homo sapiens

Ensembl Protein

ENSP00000402093

InnateDB Gene

IDBG-24546 (SEMA3A)

Protein Structure

UniProt Annotation

Function

Involved in the development of the olfactory system and in neuronal control of puberty. Induces the collapse and paralysis of neuronal growth cones. Could serve as a ligand that guides specific growth cones by a motility-inhibiting mechanism. Binds to the complex neuropilin-1/plexin-1. {ECO:0000269PubMed:22416012}.

Subcellular Localization

Secreted {ECO:0000250}.

Disease Associations

Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic- pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269PubMed:22416012, ECO:0000269PubMed:22927827}. Note=The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004872	receptor activity
GO:0038191	neuropilin binding
GO:0045499	chemorepellent activity

Biological Process

GO:0001764	neuron migration
GO:0007411	axon guidance
GO:0021675	nerve development
GO:0021772	olfactory bulb development
GO:0045087	innate immune response (InnateDB)
GO:0048485	sympathetic nervous system development
GO:0048841	regulation of axon extension involved in axon guidance
GO:0048846	axon extension involved in axon guidance
GO:0048880	sensory system development
GO:0060385	axonogenesis involved in innervation
GO:0061549	sympathetic ganglion development
GO:0071526	semaphorin-plexin signaling pathway
GO:0097490	sympathetic neuron projection extension
GO:0097491	sympathetic neuron projection guidance
GO:1901166	neural crest cell migration involved in autonomic nervous system development
GO:1902285	semaphorin-plexin signaling pathway involved in neuron projection guidance