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Protein

Semaphorin-6A

Gene

SEMA6A

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

Functioni

Cell surface receptor for PLXNA2 that plays an important role in cell-cell signaling. Required for normal granule cell migration in the developing cerebellum. Promotes reorganization of the actin cytoskeleton and plays an important role in axon guidance in the developing central nervous system. Can act as repulsive axon guidance cue. Has repulsive action towards migrating granular neurons. May play a role in channeling sympathetic axons into the sympathetic chains and controlling the temporal sequence of sympathetic target innervation (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

  • animal organ morphogenesis Source: UniProtKB
  • apoptotic process Source: UniProtKB
  • axon guidance Source: UniProtKB
  • cell surface receptor signaling pathway Source: UniProtKB
  • cytoskeleton organization Source: UniProtKB
  • negative regulation of axon extension involved in axon guidance Source: GO_Central
  • nervous system development Source: UniProtKB
  • neural crest cell migration Source: GO_Central
  • positive regulation of neuron migration Source: GO_Central
  • semaphorin-plexin signaling pathway Source: GO_Central
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Neurogenesis

Enzyme and pathway databases

ReactomeiR-HSA-416700. Other semaphorin interactions.

Names & Taxonomyi

Protein namesi
Recommended name:
Semaphorin-6A
Alternative name(s):
Semaphorin VIA
Short name:
Sema VIA
Semaphorin-6A-1
Short name:
SEMA6A-1
Gene namesi
Name:SEMA6A
Synonyms:KIAA1368, SEMAQ
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:10738. SEMA6A.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini19 – 649ExtracellularSequence analysisAdd BLAST631
Transmembranei650 – 670HelicalSequence analysisAdd BLAST21
Topological domaini671 – 1030CytoplasmicSequence analysisAdd BLAST360

GO - Cellular componenti

  • axon Source: UniProtKB
  • integral component of membrane Source: UniProtKB
  • integral component of plasma membrane Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi57556.
PharmGKBiPA35660.

Polymorphism and mutation databases

BioMutaiSEMA6A.
DMDMi296452903.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000003233919 – 1030Semaphorin-6AAdd BLAST1012

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi33N-linked (GlcNAc...)Sequence analysis1
Glycosylationi49N-linked (GlcNAc...)Sequence analysis1
Glycosylationi65N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi107 ↔ 117PROSITE-ProRule annotation
Disulfide bondi135 ↔ 144PROSITE-ProRule annotation
Disulfide bondi258 ↔ 369PROSITE-ProRule annotation
Glycosylationi282N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi283 ↔ 328PROSITE-ProRule annotation
Glycosylationi434N-linked (GlcNAc...)Sequence analysis1
Glycosylationi461N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi477 ↔ 506PROSITE-ProRule annotation
Disulfide bondi515 ↔ 533PROSITE-ProRule annotation
Disulfide bondi521 ↔ 568PROSITE-ProRule annotation
Disulfide bondi525 ↔ 542PROSITE-ProRule annotation
Modified residuei698PhosphoserineCombined sources1
Modified residuei952PhosphoserineCombined sources1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ9H2E6.
MaxQBiQ9H2E6.
PaxDbiQ9H2E6.
PeptideAtlasiQ9H2E6.
PRIDEiQ9H2E6.

PTM databases

iPTMnetiQ9H2E6.
PhosphoSitePlusiQ9H2E6.

Expressioni

Gene expression databases

BgeeiENSG00000092421.
CleanExiHS_SEMA6A.
ExpressionAtlasiQ9H2E6. baseline and differential.
GenevisibleiQ9H2E6. HS.

Organism-specific databases

HPAiHPA031265.
HPA031267.

Interactioni

Subunit structurei

Active as a homodimer or oligomer. The SEMA6A homodimer interacts with a PLXNA2 homodimer, giving rise to a heterotetramer (By similarity). Interacts with EVL.By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121612. 15 interactors.
IntActiQ9H2E6. 7 interactors.
STRINGi9606.ENSP00000345512.

Structurei

3D structure databases

ProteinModelPortaliQ9H2E6.
SMRiQ9H2E6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini24 – 512SemaPROSITE-ProRule annotationAdd BLAST489

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi792 – 819Pro-richAdd BLAST28

Sequence similaritiesi

Belongs to the semaphorin family.Curated
Contains 1 PSI domain.Curated
Contains 1 Sema domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3611. Eukaryota.
ENOG410XQZC. LUCA.
HOGENOMiHOG000232047.
HOVERGENiHBG072910.
InParanoidiQ9H2E6.
KOiK06842.
PhylomeDBiQ9H2E6.
TreeFamiTF316102.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR002165. Plexin_repeat.
IPR016201. PSI.
IPR001627. Semap_dom.
IPR027231. Semaphorin.
IPR015943. WD40/YVTN_repeat-like_dom.
[Graphical view]
PANTHERiPTHR11036. PTHR11036. 2 hits.
PfamiPF01437. PSI. 1 hit.
PF01403. Sema. 1 hit.
[Graphical view]
SMARTiSM00423. PSI. 1 hit.
SM00630. Sema. 1 hit.
[Graphical view]
SUPFAMiSSF101912. SSF101912. 1 hit.
PROSITEiPS51004. SEMA. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H2E6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MRSEALLLYF TLLHFAGAGF PEDSEPISIS HGNYTKQYPV FVGHKPGRNT
60 70 80 90 100
TQRHRLDIQM IMIMNGTLYI AARDHIYTVD IDTSHTEEIY CSKKLTWKSR
110 120 130 140 150
QADVDTCRMK GKHKDECHNF IKVLLKKNDD ALFVCGTNAF NPSCRNYKMD
160 170 180 190 200
TLEPFGDEFS GMARCPYDAK HANVALFADG KLYSATVTDF LAIDAVIYRS
210 220 230 240 250
LGESPTLRTV KHDSKWLKEP YFVQAVDYGD YIYFFFREIA VEYNTMGKVV
260 270 280 290 300
FPRVAQVCKN DMGGSQRVLE KQWTSFLKAR LNCSVPGDSH FYFNILQAVT
310 320 330 340 350
DVIRINGRDV VLATFSTPYN SIPGSAVCAY DMLDIASVFT GRFKEQKSPD
360 370 380 390 400
STWTPVPDER VPKPRPGCCA GSSSLERYAT SNEFPDDTLN FIKTHPLMDE
410 420 430 440 450
AVPSIFNRPW FLRTMVRYRL TKIAVDTAAG PYQNHTVVFL GSEKGIILKF
460 470 480 490 500
LARIGNSGFL NDSLFLEEMS VYNSEKCSYD GVEDKRIMGM QLDRASSSLY
510 520 530 540 550
VAFSTCVIKV PLGRCERYGK CKKTCIASRD PYCGWIKEGG ACSHLSPNSR
560 570 580 590 600
LTFEQDIERG NTDGLGDCHN SFVALNGHSS SLLPSTTTSD STAQEGYESR
610 620 630 640 650
GGMLDWKHLL DSPDSTDPLG AVSSHNHQDK KGVIRESYLK GHDQLVPVTL
660 670 680 690 700
LAIAVILAFV MGAVFSGITV YCVCDHRRKD VAVVQRKEKE LTHSRRGSMS
710 720 730 740 750
SVTKLSGLFG DTQSKDPKPE AILTPLMHNG KLATPGNTAK MLIKADQHHL
760 770 780 790 800
DLTALPTPES TPTLQQKRKP SRGSREWERN QNLINACTKD MPPMGSPVIP
810 820 830 840 850
TDLPLRASPS HIPSVVVLPI TQQGYQHEYV DQPKMSEVAQ MALEDQAATL
860 870 880 890 900
EYKTIKEHLS SKSPNHGVNL VENLDSLPPK VPQREASLGP PGASLSQTGL
910 920 930 940 950
SKRLEMHHSS SYGVDYKRSY PTNSLTRSHQ ATTLKRNNTN SSNSSHLSRN
960 970 980 990 1000
QSFGRGDNPP PAPQRVDSIQ VHSSQPSGQA VTVSRQPSLN AYNSLTRSGL
1010 1020 1030
KRTPSLKPDV PPKPSFAPLS TSMKPNDACT
Length:1,030
Mass (Da):114,395
Last modified:May 18, 2010 - v2
Checksum:iA1D5C9710AEC4B34
GO
Isoform 2 (identifier: Q9H2E6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     576-576: N → NDISTPLPDNEMSYNTVY

Note: No experimental confirmation available.
Show »
Length:1,047
Mass (Da):116,336
Checksum:i76D04113274B9EED
GO

Sequence cautioni

The sequence BAA92606 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030296518Y → H.2 PublicationsCorresponds to variant rs34966dbSNPEnsembl.1
Natural variantiVAR_030297559R → H.Corresponds to variant rs17432496dbSNPEnsembl.1
Natural variantiVAR_030298567D → E.Corresponds to variant rs12516652dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_007113576N → NDISTPLPDNEMSYNTVY in isoform 2. Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF279656 mRNA. Translation: AAG29378.1.
AB037789 mRNA. Translation: BAA92606.1. Different initiation.
AC008524 Genomic DNA. No translation available.
AC010296 Genomic DNA. No translation available.
AC027304 Genomic DNA. No translation available.
CCDSiCCDS47256.1. [Q9H2E6-1]
CCDS75288.1. [Q9H2E6-2]
RefSeqiNP_001287709.1. NM_001300780.1.
NP_065847.1. NM_020796.4.
UniGeneiHs.156967.

Genome annotation databases

EnsembliENST00000343348; ENSP00000345512; ENSG00000092421.
ENST00000510263; ENSP00000424388; ENSG00000092421.
GeneIDi57556.
KEGGihsa:57556.
UCSCiuc010jck.4. human. [Q9H2E6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF279656 mRNA. Translation: AAG29378.1.
AB037789 mRNA. Translation: BAA92606.1. Different initiation.
AC008524 Genomic DNA. No translation available.
AC010296 Genomic DNA. No translation available.
AC027304 Genomic DNA. No translation available.
CCDSiCCDS47256.1. [Q9H2E6-1]
CCDS75288.1. [Q9H2E6-2]
RefSeqiNP_001287709.1. NM_001300780.1.
NP_065847.1. NM_020796.4.
UniGeneiHs.156967.

3D structure databases

ProteinModelPortaliQ9H2E6.
SMRiQ9H2E6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121612. 15 interactors.
IntActiQ9H2E6. 7 interactors.
STRINGi9606.ENSP00000345512.

PTM databases

iPTMnetiQ9H2E6.
PhosphoSitePlusiQ9H2E6.

Polymorphism and mutation databases

BioMutaiSEMA6A.
DMDMi296452903.

Proteomic databases

EPDiQ9H2E6.
MaxQBiQ9H2E6.
PaxDbiQ9H2E6.
PeptideAtlasiQ9H2E6.
PRIDEiQ9H2E6.

Protocols and materials databases

DNASUi57556.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000343348; ENSP00000345512; ENSG00000092421.
ENST00000510263; ENSP00000424388; ENSG00000092421.
GeneIDi57556.
KEGGihsa:57556.
UCSCiuc010jck.4. human. [Q9H2E6-1]

Organism-specific databases

CTDi57556.
DisGeNETi57556.
GeneCardsiSEMA6A.
H-InvDBHIX0120999.
HIX0164350.
HGNCiHGNC:10738. SEMA6A.
HPAiHPA031265.
HPA031267.
MIMi605885. gene.
neXtProtiNX_Q9H2E6.
PharmGKBiPA35660.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3611. Eukaryota.
ENOG410XQZC. LUCA.
HOGENOMiHOG000232047.
HOVERGENiHBG072910.
InParanoidiQ9H2E6.
KOiK06842.
PhylomeDBiQ9H2E6.
TreeFamiTF316102.

Enzyme and pathway databases

ReactomeiR-HSA-416700. Other semaphorin interactions.

Miscellaneous databases

ChiTaRSiSEMA6A. human.
GeneWikiiSEMA6A.
GenomeRNAii57556.
PROiQ9H2E6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000092421.
CleanExiHS_SEMA6A.
ExpressionAtlasiQ9H2E6. baseline and differential.
GenevisibleiQ9H2E6. HS.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR002165. Plexin_repeat.
IPR016201. PSI.
IPR001627. Semap_dom.
IPR027231. Semaphorin.
IPR015943. WD40/YVTN_repeat-like_dom.
[Graphical view]
PANTHERiPTHR11036. PTHR11036. 2 hits.
PfamiPF01437. PSI. 1 hit.
PF01403. Sema. 1 hit.
[Graphical view]
SMARTiSM00423. PSI. 1 hit.
SM00630. Sema. 1 hit.
[Graphical view]
SUPFAMiSSF101912. SSF101912. 1 hit.
PROSITEiPS51004. SEMA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSEM6A_HUMAN
AccessioniPrimary (citable) accession number: Q9H2E6
Secondary accession number(s): Q9P2H9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 11, 2003
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 137 of the entry and version 2 of the sequence. [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 5
    Human chromosome 5: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.