SEMA3A
entrez
10371
canonical
uniprot
Q14563
canonical
ensembl
ENSG00000075213
resolver
ensp
ENSP00000265362
resolver
ensp
ENSP00000415260
resolver
ensp
ENSP00000535047
resolver
ensp
ENSP00000535048
resolver
ensp
ENSP00000535049
resolver
ensp
ENSP00000535050
resolver
ensp
ENSP00000535051
resolver
ensp
ENSP00000535053
resolver
enst
ENST00000265362
resolver
enst
ENST00000436949
resolver
enst
ENST00000864988
resolver
enst
ENST00000864989
resolver
enst
ENST00000864990
resolver
enst
ENST00000864991
resolver
enst
ENST00000864992
resolver
enst
ENST00000864994
resolver
genesymbol
SEMA3A
resolver
genesymbol_syn
SEMAD
resolver
hgnc
HGNC:10723
resolver
uniprot_entry
SEM3A_HUMAN
resolver
amino_acid_sequence
MGWLTRIVCLFWGVLLTARANYQNGKNNVPRLKLSYKEMLESNNVITFNGLANSSSYHTFLLDEERSRLYVGAKDHIFSFDLVNIKDFQKIVWPVSYTRRDECKWAGKDILKECANFIKVLKAYNQTHLYACGTGAFHPICTYIEIGHHPEDNIFKLENSHFENGRGKSPYDPKLLTASLLIDGELYSGTAADFMGRDFAIFRTLGHHHPIRTEQHDSRWLNDPKFISAHLISESDNPEDDKVYFFFRENAIDGEHSGKATHARIGQICKNDFGGHRSLVNKWTTFLKARLICSVPGPNGIDTHFDELQDVFLMNFKDPKNPVVYGVFTTSSNIFKGSAVCMYSMSDVRRVFLGPYAHRDGPNYQWVPYQGRVPYPRPGTCPSKTFGGFDSTKDLPDDVITFARSHPAMYNPVFPMNNRPIVIKTDVNYQFTQIVVDRVDAEDGQYDVMFIGTDVGTVLKVVSIPKETWYDLEEVLLEEMTVFREPTAISAMELSTKQQQLYIGSTAGVAQLPLHRCDIYGKACAECCLARDPYCAWDGSACSRYFPTAKRRTRRQDIRNGDPLTHCSDLHHDNHHGHSPEERIIYGVENSSTFLECSPKSQRALVYWQFQRRNEERKEEIRVDDHIIRTDQGLLLRSLQQKDSGNYLCHAVEHGFIQTLLKVTLEVIDTEHLEELLHKDDDGDGSKTKEMSNSMTPSQKVWYRDFMQLINHPNLNTMDEFCEQVWKRDRKQRRQRPGHTPGNSNKWKHLQENKKGRNRRTHEFERAPRSV
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:22416012, ECO:0000269|PubMed:22927827, ECO:0000269|PubMed:25077900}. Note=The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry.
uniprot
proteins
function
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:0000269|PubMed:22416012}.
uniprot
proteins
mass_dalton
88889
uniprot
proteins
protein_family
Semaphorin family
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
21248752
uniprot
proteins
pubmed
22416012
uniprot
proteins
pubmed
22927827
uniprot
proteins
pubmed
25077900
uniprot
proteins
pubmed
28270793
uniprot
proteins
pubmed
8269517
uniprot
proteins
sequence_length
771
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
uniprot
proteins