MGP Database

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MGP004214

UniProt Annotations

Entry Information
Gene Namesema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
Protein EntrySEM3A_HUMAN
UniProt IDQ14563
SpeciesHuman
Comments
Comment typeDescription
DiseaseHypogonadotropic 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:0000269|PubMed:22416012, ECO:0000269|PubMed:22927827}. Note=The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry.
DomainStrong binding to neuropilin is mediated by the carboxy third of the protein.
FunctionInvolved 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:0000269|PubMed:22416012}.
SimilarityBelongs to the semaphorin family. {ECO:0000305}.
SimilarityContains 1 Ig-like C2-type (immunoglobulin-like) domain. {ECO:0000305}.
SimilarityContains 1 PSI domain. {ECO:0000305}.
SimilarityContains 1 Sema domain. {ECO:0000255|PROSITE- ProRule:PRU00352}.
Subcellular LocationSecreted {ECO:0000250}.
SubunitInteracts with PLXND1. {ECO:0000250}.
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