Endometriosis Knowledgebase

Search Result

Gene id

10371

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

SEMA3A Gene UCSC Ensembl

Aliases

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

Gene name

semaphorin 3A

Alternate names

semaphorin-3A, collapsin 1, sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A, semaphorin D, semaphorin III, semaphorin L,

Gene location

7q21.11 (84492723: 83956845) Exons: 24 NC_000007.14

Gene summary(Entrez)

This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or as a chemoattractive agent, stimulating the growth of apical dendrites. In both cases, the protein is vital for normal neuronal pattern development. Increased expression of this protein is associated with schizophrenia and is seen in a variety of human tumor cell lines. Also, aberrant release of this protein is associated with the progression of Alzheimer's disease. [provided by RefSeq, Jul 2008]

OMIM

603961

Protein Summary

Protein general information

Q14563

Name: Semaphorin 3A (Semaphorin III) (Sema III)

Length: 771 Mass: 88,889

Sequence

MGWLTRIVCLFWGVLLTARANYQNGKNNVPRLKLSYKEMLESNNVITFNGLANSSSYHTFLLDEERSRLYVGAKD
HIFSFDLVNIKDFQKIVWPVSYTRRDECKWAGKDILKECANFIKVLKAYNQTHLYACGTGAFHPICTYIEIGHHP
EDNIFKLENSHFENGRGKSPYDPKLLTASLLIDGELYSGTAADFMGRDFAIFRTLGHHHPIRTEQHDSRWLNDPK
FISAHLISESDNPEDDKVYFFFRENAIDGEHSGKATHARIGQICKNDFGGHRSLVNKWTTFLKARLICSVPGPNG
IDTHFDELQDVFLMNFKDPKNPVVYGVFTTSSNIFKGSAVCMYSMSDVRRVFLGPYAHRDGPNYQWVPYQGRVPY
PRPGTCPSKTFGGFDSTKDLPDDVITFARSHPAMYNPVFPMNNRPIVIKTDVNYQFTQIVVDRVDAEDGQYDVMF
IGTDVGTVLKVVSIPKETWYDLEEVLLEEMTVFREPTAISAMELSTKQQQLYIGSTAGVAQLPLHRCDIYGKACA
ECCLARDPYCAWDGSACSRYFPTAKRRTRRQDIRNGDPLTHCSDLHHDNHHGHSPEERIIYGVENSSTFLECSPK
SQRALVYWQFQRRNEERKEEIRVDDHIIRTDQGLLLRSLQQKDSGNYLCHAVEHGFIQTLLKVTLEVIDTEHLEE
LLHKDDDGDGSKTKEMSNSMTPSQKVWYRDFMQLINHPNLNTMDEFCEQVWKRDRKQRRQRPGHTPGNSNKWKHL
QENKKGRNRRTHEFERAPRSV

Structural information

Protein Domains	Sema. (31-514) Ig-like (580-664)
Interpro:	IPR007110 IPR013783 IPR003599 IPR016201 IPR001627 IPR027231 IPR015943
Prosite:	PS50835 PS51004
Pfam:	PF01403
DIP:	5744
STRING:	ENSP00000265362;

Other Databases

GeneCards: SEMA3A; Malacards: SEMA3A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001755	neural crest cell migrati on	IBA	biological_process
GO:0001764	neuron migration	ISS	biological_process
GO:0002027	regulation of heart rate	IEA	biological_process
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IBA	cellular_component
GO:0006915	apoptotic process	IEA	biological_process
GO:0007411	axon guidance	TAS	biological_process
GO:0007413	axonal fasciculation	IEA	biological_process
GO:0010633	negative regulation of ep ithelial cell migration	IEA	biological_process
GO:0021612	facial nerve structural o rganization	IEA	biological_process
GO:0021637	trigeminal nerve structur al organization	IEA	biological_process
GO:0021675	nerve development	ISS	biological_process
GO:0021772	olfactory bulb developmen t	IMP	biological_process
GO:0021785	branchiomotor neuron axon guidance	IEA	biological_process
GO:0021828	gonadotrophin-releasing h ormone neuronal migration to the hypothalamus	IEA	biological_process
GO:0030215	semaphorin receptor bindi ng	IBA	molecular_function
GO:0030424	axon	IBA	cellular_component
GO:0030425	dendrite	IEA	cellular_component
GO:0036486	ventral trunk neural cres t cell migration	IEA	biological_process
GO:0038191	neuropilin binding	ISS	molecular_function
GO:0038191	neuropilin binding	IBA	molecular_function
GO:0045499	chemorepellent activity	TAS	molecular_function
GO:0048485	sympathetic nervous syste m development	TAS	biological_process
GO:0048813	dendrite morphogenesis	IEA	biological_process
GO:0048841	regulation of axon extens ion involved in axon guid ance	IDA	biological_process
GO:0048843	negative regulation of ax on extension involved in axon guidance	IBA	biological_process
GO:0048846	axon extension involved i n axon guidance	ISS	biological_process
GO:0048880	sensory system developmen t	TAS	biological_process
GO:0050919	negative chemotaxis	IEA	biological_process
GO:0060385	axonogenesis involved in innervation	ISS	biological_process
GO:0060666	dichotomous subdivision o f terminal units involved in salivary gland branch ing	IEA	biological_process
GO:0061549	sympathetic ganglion deve lopment	ISS	biological_process
GO:0061551	trigeminal ganglion devel opment	IEA	biological_process
GO:0071526	semaphorin-plexin signali ng pathway	TAS	biological_process
GO:0097490	sympathetic neuron projec tion extension	ISS	biological_process
GO:0097491	sympathetic neuron projec tion guidance	ISS	biological_process
GO:1901166	neural crest cell migrati on involved in autonomic nervous system developmen t	ISS	biological_process
GO:1902285	semaphorin-plexin signali ng pathway involved in ne uron projection guidance	ISS	biological_process
GO:1902287	semaphorin-plexin signali ng pathway involved in ax on guidance	IEA	biological_process
GO:1903045	neural crest cell migrati on involved in sympatheti c nervous system developm ent	IEA	biological_process
GO:1903375	facioacoustic ganglion de velopment	IEA	biological_process
GO:2000020	positive regulation of ma le gonad development	IEA	biological_process
GO:2001224	positive regulation of ne uron migration	IBA	biological_process
GO:0001755	neural crest cell migrati on	IBA	biological_process
GO:0001764	neuron migration	IEA	biological_process
GO:0001764	neuron migration	ISS	biological_process
GO:0002027	regulation of heart rate	IEA	biological_process
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IBA	cellular_component
GO:0006915	apoptotic process	IEA	biological_process
GO:0007275	multicellular organism de velopment	IEA	biological_process
GO:0007399	nervous system developmen t	IEA	biological_process
GO:0007411	axon guidance	IEA	biological_process
GO:0007411	axon guidance	TAS	biological_process
GO:0007413	axonal fasciculation	IEA	biological_process
GO:0008045	motor neuron axon guidanc e	IEA	biological_process
GO:0010633	negative regulation of ep ithelial cell migration	IEA	biological_process
GO:0021612	facial nerve structural o rganization	IEA	biological_process
GO:0021637	trigeminal nerve structur al organization	IEA	biological_process
GO:0021675	nerve development	IEA	biological_process
GO:0021675	nerve development	ISS	biological_process
GO:0021772	olfactory bulb developmen t	IMP	biological_process
GO:0021785	branchiomotor neuron axon guidance	IEA	biological_process
GO:0021828	gonadotrophin-releasing h ormone neuronal migration to the hypothalamus	IEA	biological_process
GO:0030154	cell differentiation	IEA	biological_process
GO:0030215	semaphorin receptor bindi ng	IEA	molecular_function
GO:0030215	semaphorin receptor bindi ng	IBA	molecular_function
GO:0030424	axon	IEA	cellular_component
GO:0030424	axon	IBA	cellular_component
GO:0030425	dendrite	IEA	cellular_component
GO:0030517	negative regulation of ax on extension	IEA	biological_process
GO:0036486	ventral trunk neural cres t cell migration	IEA	biological_process
GO:0038191	neuropilin binding	IEA	molecular_function
GO:0038191	neuropilin binding	ISS	molecular_function
GO:0038191	neuropilin binding	IBA	molecular_function
GO:0045499	chemorepellent activity	IEA	molecular_function
GO:0045499	chemorepellent activity	TAS	molecular_function
GO:0048485	sympathetic nervous syste m development	TAS	biological_process
GO:0048813	dendrite morphogenesis	IEA	biological_process
GO:0048841	regulation of axon extens ion involved in axon guid ance	IEA	biological_process
GO:0048841	regulation of axon extens ion involved in axon guid ance	IDA	biological_process
GO:0048843	negative regulation of ax on extension involved in axon guidance	IEA	biological_process
GO:0048843	negative regulation of ax on extension involved in axon guidance	IBA	biological_process
GO:0048846	axon extension involved i n axon guidance	IEA	biological_process
GO:0048846	axon extension involved i n axon guidance	ISS	biological_process
GO:0048880	sensory system developmen t	TAS	biological_process
GO:0050919	negative chemotaxis	IEA	biological_process
GO:0060385	axonogenesis involved in innervation	IEA	biological_process
GO:0060385	axonogenesis involved in innervation	ISS	biological_process
GO:0060666	dichotomous subdivision o f terminal units involved in salivary gland branch ing	IEA	biological_process
GO:0061549	sympathetic ganglion deve lopment	IEA	biological_process
GO:0061549	sympathetic ganglion deve lopment	ISS	biological_process
GO:0061551	trigeminal ganglion devel opment	IEA	biological_process
GO:0071526	semaphorin-plexin signali ng pathway	IEA	biological_process
GO:0071526	semaphorin-plexin signali ng pathway	TAS	biological_process
GO:0097490	sympathetic neuron projec tion extension	IEA	biological_process
GO:0097490	sympathetic neuron projec tion extension	ISS	biological_process
GO:0097491	sympathetic neuron projec tion guidance	IEA	biological_process
GO:0097491	sympathetic neuron projec tion guidance	ISS	biological_process
GO:1901166	neural crest cell migrati on involved in autonomic nervous system developmen t	IEA	biological_process
GO:1901166	neural crest cell migrati on involved in autonomic nervous system developmen t	ISS	biological_process
GO:1902285	semaphorin-plexin signali ng pathway involved in ne uron projection guidance	IEA	biological_process
GO:1902285	semaphorin-plexin signali ng pathway involved in ne uron projection guidance	ISS	biological_process
GO:1902287	semaphorin-plexin signali ng pathway involved in ax on guidance	IEA	biological_process
GO:1903045	neural crest cell migrati on involved in sympatheti c nervous system developm ent	IEA	biological_process
GO:1903375	facioacoustic ganglion de velopment	IEA	biological_process
GO:2000020	positive regulation of ma le gonad development	IEA	biological_process
GO:2001224	positive regulation of ne uron migration	IEA	biological_process
GO:2001224	positive regulation of ne uron migration	IBA	biological_process
GO:0001755	neural crest cell migrati on	IBA	biological_process
GO:0001764	neuron migration	ISS	biological_process
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IBA	cellular_component
GO:0007411	axon guidance	TAS	biological_process
GO:0021675	nerve development	ISS	biological_process
GO:0021772	olfactory bulb developmen t	IMP	biological_process
GO:0030215	semaphorin receptor bindi ng	IBA	molecular_function
GO:0030424	axon	IBA	cellular_component
GO:0038191	neuropilin binding	ISS	molecular_function
GO:0038191	neuropilin binding	IBA	molecular_function
GO:0045499	chemorepellent activity	TAS	molecular_function
GO:0048485	sympathetic nervous syste m development	TAS	biological_process
GO:0048841	regulation of axon extens ion involved in axon guid ance	IDA	biological_process
GO:0048843	negative regulation of ax on extension involved in axon guidance	IBA	biological_process
GO:0048846	axon extension involved i n axon guidance	ISS	biological_process
GO:0048880	sensory system developmen t	TAS	biological_process
GO:0060385	axonogenesis involved in innervation	ISS	biological_process
GO:0061549	sympathetic ganglion deve lopment	ISS	biological_process
GO:0071526	semaphorin-plexin signali ng pathway	TAS	biological_process
GO:0097490	sympathetic neuron projec tion extension	ISS	biological_process
GO:0097491	sympathetic neuron projec tion guidance	ISS	biological_process
GO:1901166	neural crest cell migrati on involved in autonomic nervous system developmen t	ISS	biological_process
GO:1902285	semaphorin-plexin signali ng pathway involved in ne uron projection guidance	ISS	biological_process
GO:2001224	positive regulation of ne uron migration	IBA	biological_process

KEGG pathways

hsa04360 Axon guidance
PTHR11036:SF23 Axon guidance mediated by semaphorins

Diseases

Associated diseases	References
Attention-deficit hyperactivity disorder (ADHD)	PMID: 21784300
Cardiovascular disease	PMID: 17903304
Congenital hypogonadotropic hypogonadism	PMID: 24522099, KEGG: H00255, OMIM: 603961
Endometriosis	PMID: 26720585
Endometriosis	INFBASE26720585
Prion diseases	PMID: 22210626

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
26720585	Endometrio sis			118 (44 patient s with endometr iosis (24 perit oneal endometri osis, 20 deep i nfiltrating end ometriosis of u terosacral liga ment), 74 (euto pic samples fro m 22 patietns w ith endometrios is, 26 patients without endome triosis, 13 hea lthy peritoneum ))		Sema 3A Plexin A1 and NRP-1	Show abstract