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Protein

Semaphorin-3A

Gene

SEMA3A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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-1.1 Publication

GO - Molecular functioni

  • chemorepellent activity Source: BHF-UCL
  • neuropilin binding Source: BHF-UCL
  • semaphorin receptor binding Source: Ensembl

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processDifferentiation, Neurogenesis

Enzyme and pathway databases

ReactomeiR-HSA-399954. Sema3A PAK dependent Axon repulsion.
R-HSA-399955. SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion.
R-HSA-399956. CRMPs in Sema3A signaling.
SIGNORiQ14563.

Names & Taxonomyi

Protein namesi
Recommended name:
Semaphorin-3A
Alternative name(s):
Semaphorin III
Short name:
Sema III
Gene namesi
Name:SEMA3A
Synonyms:SEMAD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000075213.10.
HGNCiHGNC:10723. SEMA3A.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Hypogonadotropic hypogonadism 16 with or without anosmia (HH16)3 Publications
The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry.
Disease descriptionA 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).
See also OMIM:614897
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06920066R → W in HH16; phenotype consistent with Kallmann syndrome. 2 PublicationsCorresponds to variant dbSNP:rs199979628Ensembl.1
Natural variantiVAR_07298682L → R in HH16; unknown pathological significance. 1 Publication1
Natural variantiVAR_069201153N → S in HH16; phenotype consistent with Kallmann syndrome. 2 PublicationsCorresponds to variant dbSNP:rs139295139Ensembl.1
Natural variantiVAR_072987342M → T in HH16; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_069202400I → V in HH16; phenotype consistent with Kallmann syndrome; digenic; found in a patient also carrying mutation Cys-268 in PROKR2. 1 PublicationCorresponds to variant dbSNP:rs36026860Ensembl.1
Natural variantiVAR_069203435V → I in HH16; phenotype consistent with Kallmann syndrome; digenic; found in patients also carrying mutation Cys-268 in PROKR2 or mutation Arg-687 in FGFR1. 2 PublicationsCorresponds to variant dbSNP:rs147436181Ensembl.1
Natural variantiVAR_072988447D → G in HH16; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant dbSNP:rs761486957Ensembl.1
Natural variantiVAR_072989484R → W in HH16; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs137871935Ensembl.1
Natural variantiVAR_072990657I → M in HH16; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant dbSNP:rs748219597Ensembl.1
Natural variantiVAR_069204688T → A in HH16; phenotype consistent with Kallmann syndrome; digenic; found in a patient also carrying mutation Asp-217 in KAL1. 1 PublicationCorresponds to variant dbSNP:rs318240751Ensembl.1
Natural variantiVAR_069205730R → Q in HH16; phenotype consistent with Kallmann syndrome. 2 PublicationsCorresponds to variant dbSNP:rs318240752Ensembl.1
Natural variantiVAR_069206733R → H in HH16; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant dbSNP:rs318240753Ensembl.1

Keywords - Diseasei

Disease mutation, Hypogonadotropic hypogonadism, Kallmann syndrome

Organism-specific databases

DisGeNETi10371.
MalaCardsiSEMA3A.
MIMi614897. phenotype.
OpenTargetsiENSG00000075213.
Orphaneti478. Kallmann syndrome.
PharmGKBiPA35645.

Polymorphism and mutation databases

BioMutaiSEMA3A.
DMDMi8134674.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Sequence analysisAdd BLAST20
ChainiPRO_000003230321 – 771Semaphorin-3AAdd BLAST751

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi53N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi103 ↔ 114By similarity
Glycosylationi125N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi132 ↔ 141By similarity
Disulfide bondi269 ↔ 381By similarity
Disulfide bondi293 ↔ 341By similarity
Disulfide bondi517 ↔ 535By similarity
Glycosylationi590N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi649 ↔ 722By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ14563.
MaxQBiQ14563.
PaxDbiQ14563.
PeptideAtlasiQ14563.
PRIDEiQ14563.

PTM databases

iPTMnetiQ14563.
PhosphoSitePlusiQ14563.

Expressioni

Gene expression databases

BgeeiENSG00000075213.
CleanExiHS_SEMA3A.
ExpressionAtlasiQ14563. baseline and differential.
GenevisibleiQ14563. HS.

Organism-specific databases

HPAiHPA029447.
HPA052235.

Interactioni

Subunit structurei

Interacts with PLXND1.By similarity

GO - Molecular functioni

  • chemorepellent activity Source: BHF-UCL
  • neuropilin binding Source: BHF-UCL
  • semaphorin receptor binding Source: Ensembl

Protein-protein interaction databases

BioGridi115650. 2 interactors.
CORUMiQ14563.
DIPiDIP-5744N.
STRINGi9606.ENSP00000265362.

Structurei

3D structure databases

ProteinModelPortaliQ14563.
SMRiQ14563.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini31 – 514SemaPROSITE-ProRule annotationAdd BLAST484
Domaini580 – 664Ig-like C2-typeAdd BLAST85

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi727 – 769Arg/Lys-rich (basic)Add BLAST43

Domaini

Strong binding to neuropilin is mediated by the carboxy third of the protein.

Sequence similaritiesi

Belongs to the semaphorin family.Curated

Keywords - Domaini

Immunoglobulin domain, Signal

Phylogenomic databases

eggNOGiKOG3611. Eukaryota.
ENOG410XQZC. LUCA.
GeneTreeiENSGT00760000118854.
HOGENOMiHOG000039964.
HOVERGENiHBG055071.
InParanoidiQ14563.
KOiK06840.
OMAiAVNHEHN.
OrthoDBiEOG091G01W0.
PhylomeDBiQ14563.
TreeFamiTF316102.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
2.60.40.10. 1 hit.
InterProiView protein in InterPro
IPR007110. Ig-like_dom.
IPR036179. Ig-like_dom_sf.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR016201. PSI.
IPR001627. Semap_dom.
IPR036352. Semap_dom_sf.
IPR027231. Semaphorin.
IPR015943. WD40/YVTN_repeat-like_dom_sf.
PANTHERiPTHR11036. PTHR11036. 1 hit.
PfamiView protein in Pfam
PF01403. Sema. 1 hit.
SMARTiView protein in SMART
SM00409. IG. 1 hit.
SM00423. PSI. 1 hit.
SM00630. Sema. 1 hit.
SUPFAMiSSF101912. SSF101912. 1 hit.
SSF48726. SSF48726. 1 hit.
PROSITEiView protein in PROSITE
PS50835. IG_LIKE. 1 hit.
PS51004. SEMA. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q14563-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGWLTRIVCL FWGVLLTARA NYQNGKNNVP RLKLSYKEML ESNNVITFNG
60 70 80 90 100
LANSSSYHTF LLDEERSRLY VGAKDHIFSF DLVNIKDFQK IVWPVSYTRR
110 120 130 140 150
DECKWAGKDI LKECANFIKV LKAYNQTHLY ACGTGAFHPI CTYIEIGHHP
160 170 180 190 200
EDNIFKLENS HFENGRGKSP YDPKLLTASL LIDGELYSGT AADFMGRDFA
210 220 230 240 250
IFRTLGHHHP IRTEQHDSRW LNDPKFISAH LISESDNPED DKVYFFFREN
260 270 280 290 300
AIDGEHSGKA THARIGQICK NDFGGHRSLV NKWTTFLKAR LICSVPGPNG
310 320 330 340 350
IDTHFDELQD VFLMNFKDPK NPVVYGVFTT SSNIFKGSAV CMYSMSDVRR
360 370 380 390 400
VFLGPYAHRD GPNYQWVPYQ GRVPYPRPGT CPSKTFGGFD STKDLPDDVI
410 420 430 440 450
TFARSHPAMY NPVFPMNNRP IVIKTDVNYQ FTQIVVDRVD AEDGQYDVMF
460 470 480 490 500
IGTDVGTVLK VVSIPKETWY DLEEVLLEEM TVFREPTAIS AMELSTKQQQ
510 520 530 540 550
LYIGSTAGVA QLPLHRCDIY GKACAECCLA RDPYCAWDGS ACSRYFPTAK
560 570 580 590 600
RRTRRQDIRN GDPLTHCSDL HHDNHHGHSP EERIIYGVEN SSTFLECSPK
610 620 630 640 650
SQRALVYWQF QRRNEERKEE IRVDDHIIRT DQGLLLRSLQ QKDSGNYLCH
660 670 680 690 700
AVEHGFIQTL LKVTLEVIDT EHLEELLHKD DDGDGSKTKE MSNSMTPSQK
710 720 730 740 750
VWYRDFMQLI NHPNLNTMDE FCEQVWKRDR KQRRQRPGHT PGNSNKWKHL
760 770
QENKKGRNRR THEFERAPRS V
Length:771
Mass (Da):88,889
Last modified:November 1, 1996 - v1
Checksum:i9985F8D3EAED8456
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06920066R → W in HH16; phenotype consistent with Kallmann syndrome. 2 PublicationsCorresponds to variant dbSNP:rs199979628Ensembl.1
Natural variantiVAR_07298682L → R in HH16; unknown pathological significance. 1 Publication1
Natural variantiVAR_036283131A → T in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs143007146Ensembl.1
Natural variantiVAR_069201153N → S in HH16; phenotype consistent with Kallmann syndrome. 2 PublicationsCorresponds to variant dbSNP:rs139295139Ensembl.1
Natural variantiVAR_072987342M → T in HH16; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_064749396P → S Found in a renal cell carcinoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs866354226Ensembl.1
Natural variantiVAR_069202400I → V in HH16; phenotype consistent with Kallmann syndrome; digenic; found in a patient also carrying mutation Cys-268 in PROKR2. 1 PublicationCorresponds to variant dbSNP:rs36026860Ensembl.1
Natural variantiVAR_069203435V → I in HH16; phenotype consistent with Kallmann syndrome; digenic; found in patients also carrying mutation Cys-268 in PROKR2 or mutation Arg-687 in FGFR1. 2 PublicationsCorresponds to variant dbSNP:rs147436181Ensembl.1
Natural variantiVAR_072988447D → G in HH16; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant dbSNP:rs761486957Ensembl.1
Natural variantiVAR_072989484R → W in HH16; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs137871935Ensembl.1
Natural variantiVAR_072990657I → M in HH16; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant dbSNP:rs748219597Ensembl.1
Natural variantiVAR_069204688T → A in HH16; phenotype consistent with Kallmann syndrome; digenic; found in a patient also carrying mutation Asp-217 in KAL1. 1 PublicationCorresponds to variant dbSNP:rs318240751Ensembl.1
Natural variantiVAR_069205730R → Q in HH16; phenotype consistent with Kallmann syndrome. 2 PublicationsCorresponds to variant dbSNP:rs318240752Ensembl.1
Natural variantiVAR_069206733R → H in HH16; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant dbSNP:rs318240753Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L26081 mRNA. Translation: AAA65938.1.
AC004451 Genomic DNA. Translation: AAS00353.1.
AC004848 Genomic DNA. Translation: AAC78622.1.
CCDSiCCDS5599.1.
PIRiD49423.
RefSeqiNP_006071.1. NM_006080.2.
XP_005250167.1. XM_005250110.3.
XP_005250168.1. XM_005250111.4.
XP_006715902.1. XM_006715839.3.
XP_011514036.1. XM_011515734.2.
XP_016867162.1. XM_017011673.1.
UniGeneiHs.252451.

Genome annotation databases

EnsembliENST00000265362; ENSP00000265362; ENSG00000075213.
ENST00000436949; ENSP00000415260; ENSG00000075213.
GeneIDi10371.
KEGGihsa:10371.
UCSCiuc003uhz.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSEM3A_HUMAN
AccessioniPrimary (citable) accession number: Q14563
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1996
Last modified: November 22, 2017
This is version 167 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families