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Q9H2E6 (SEM6A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 112. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Semaphorin-6A
Alternative name(s):
Semaphorin VIA
Short name=Sema VIA
Semaphorin-6A-1
Short name=SEMA6A-1
Gene names
Name:SEMA6A
Synonyms:KIAA1368, SEMAQ
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1030 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Active as a homodimer or oligomer. The SEMA6A homodimer interacts with a PLXNA2 homodimer, giving rise to a heterotetramer By similarity. Interacts with EVL. Ref.1

Subcellular location

Cell membrane; Single-pass type I membrane protein.

Sequence similarities

Belongs to the semaphorin family.

Contains 1 PSI domain.

Contains 1 Sema domain.

Sequence caution

The sequence BAA92606.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Biological processDifferentiation
Neurogenesis
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainSignal
Transmembrane
Transmembrane helix
   Molecular functionDevelopmental protein
   PTMDisulfide bond
Glycoprotein
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processapoptotic process

Non-traceable author statement Ref.1. Source: UniProtKB

axon guidance

Non-traceable author statement Ref.1. Source: UniProtKB

cell surface receptor signaling pathway

Non-traceable author statement Ref.1. Source: UniProtKB

centrosome localization

Inferred from electronic annotation. Source: Ensembl

cytoskeleton organization

Non-traceable author statement Ref.1. Source: UniProtKB

nervous system development

Non-traceable author statement Ref.1. Source: UniProtKB

neuron migration

Inferred from electronic annotation. Source: Ensembl

organ morphogenesis

Non-traceable author statement Ref.1. Source: UniProtKB

positive regulation of neuron migration

Inferred from electronic annotation. Source: Ensembl

semaphorin-plexin signaling pathway

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentaxon

Non-traceable author statement Ref.1. Source: UniProtKB

integral component of membrane

Non-traceable author statement Ref.1. Source: UniProtKB

integral component of plasma membrane

Inferred from electronic annotation. Source: Ensembl

   Molecular_functiontransmembrane signaling receptor activity

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9H2E6-1)

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.
Isoform 2 (identifier: Q9H2E6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     576-576: N → NDISTPLPDNEMSYNTVY
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1818 Potential
Chain19 – 10301012Semaphorin-6A
PRO_0000032339

Regions

Topological domain19 – 649631Extracellular Potential
Transmembrane650 – 67021Helical; Potential
Topological domain671 – 1030360Cytoplasmic Potential
Domain24 – 512489Sema
Compositional bias792 – 81928Pro-rich

Amino acid modifications

Modified residue6981Phosphoserine Ref.4
Modified residue9521Phosphoserine Ref.4
Modified residue9881Phosphoserine Ref.4
Glycosylation331N-linked (GlcNAc...) Potential
Glycosylation491N-linked (GlcNAc...) Potential
Glycosylation651N-linked (GlcNAc...) Potential
Glycosylation2821N-linked (GlcNAc...) Potential
Glycosylation4341N-linked (GlcNAc...) Potential
Glycosylation4611N-linked (GlcNAc...) Potential
Disulfide bond107 ↔ 117 By similarity
Disulfide bond135 ↔ 144 By similarity
Disulfide bond258 ↔ 369 By similarity
Disulfide bond283 ↔ 328 By similarity
Disulfide bond477 ↔ 506 By similarity
Disulfide bond515 ↔ 533 By similarity
Disulfide bond521 ↔ 568 By similarity
Disulfide bond525 ↔ 542 By similarity

Natural variations

Alternative sequence5761N → NDISTPLPDNEMSYNTVY in isoform 2.
VSP_007113
Natural variant5181Y → H. Ref.1 Ref.2
Corresponds to variant rs34966 [ dbSNP | Ensembl ].
VAR_030296
Natural variant5591R → H.
Corresponds to variant rs17432496 [ dbSNP | Ensembl ].
VAR_030297
Natural variant5671D → E.
Corresponds to variant rs12516652 [ dbSNP | Ensembl ].
VAR_030298

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: A1D5C9710AEC4B34

FASTA1,030114,395
        10         20         30         40         50         60 
MRSEALLLYF TLLHFAGAGF PEDSEPISIS HGNYTKQYPV FVGHKPGRNT TQRHRLDIQM 

        70         80         90        100        110        120 
IMIMNGTLYI AARDHIYTVD IDTSHTEEIY CSKKLTWKSR QADVDTCRMK GKHKDECHNF 

       130        140        150        160        170        180 
IKVLLKKNDD ALFVCGTNAF NPSCRNYKMD TLEPFGDEFS GMARCPYDAK HANVALFADG 

       190        200        210        220        230        240 
KLYSATVTDF LAIDAVIYRS LGESPTLRTV KHDSKWLKEP YFVQAVDYGD YIYFFFREIA 

       250        260        270        280        290        300 
VEYNTMGKVV FPRVAQVCKN DMGGSQRVLE KQWTSFLKAR LNCSVPGDSH FYFNILQAVT 

       310        320        330        340        350        360 
DVIRINGRDV VLATFSTPYN SIPGSAVCAY DMLDIASVFT GRFKEQKSPD STWTPVPDER 

       370        380        390        400        410        420 
VPKPRPGCCA GSSSLERYAT SNEFPDDTLN FIKTHPLMDE AVPSIFNRPW FLRTMVRYRL 

       430        440        450        460        470        480 
TKIAVDTAAG PYQNHTVVFL GSEKGIILKF LARIGNSGFL NDSLFLEEMS VYNSEKCSYD 

       490        500        510        520        530        540 
GVEDKRIMGM QLDRASSSLY VAFSTCVIKV PLGRCERYGK CKKTCIASRD PYCGWIKEGG 

       550        560        570        580        590        600 
ACSHLSPNSR LTFEQDIERG NTDGLGDCHN SFVALNGHSS SLLPSTTTSD STAQEGYESR 

       610        620        630        640        650        660 
GGMLDWKHLL DSPDSTDPLG AVSSHNHQDK KGVIRESYLK GHDQLVPVTL LAIAVILAFV 

       670        680        690        700        710        720 
MGAVFSGITV YCVCDHRRKD VAVVQRKEKE LTHSRRGSMS SVTKLSGLFG DTQSKDPKPE 

       730        740        750        760        770        780 
AILTPLMHNG KLATPGNTAK MLIKADQHHL DLTALPTPES TPTLQQKRKP SRGSREWERN 

       790        800        810        820        830        840 
QNLINACTKD MPPMGSPVIP TDLPLRASPS HIPSVVVLPI TQQGYQHEYV DQPKMSEVAQ 

       850        860        870        880        890        900 
MALEDQAATL EYKTIKEHLS SKSPNHGVNL VENLDSLPPK VPQREASLGP PGASLSQTGL 

       910        920        930        940        950        960 
SKRLEMHHSS SYGVDYKRSY PTNSLTRSHQ ATTLKRNNTN SSNSSHLSRN QSFGRGDNPP 

       970        980        990       1000       1010       1020 
PAPQRVDSIQ VHSSQPSGQA VTVSRQPSLN AYNSLTRSGL KRTPSLKPDV PPKPSFAPLS 

      1030 
TSMKPNDACT 

« Hide

Isoform 2 [UniParc].

Checksum: 76D04113274B9EED
Show »

FASTA1,047116,336

References

« Hide 'large scale' references
[1]"The orthologous human and murine semaphorin 6A-1 proteins (SEMA6A-1/Sema6A-1) bind to the enabled/vasodilator-stimulated phosphoprotein-like protein (EVL) via a novel carboxyl-terminal zyxin-like domain."
Klostermann A., Lutz B., Gertler F., Behl C.
J. Biol. Chem. 275:39647-39653(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], INTERACTION WITH EVL, VARIANT HIS-518.
[2]"Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT HIS-518.
Tissue: Brain.
[3]"The DNA sequence and comparative analysis of human chromosome 5."
Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. expand/collapse author list , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-698; SER-952 AND SER-988, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_065847.1. NM_020796.3.
UniGeneHs.156967.

3D structure databases

ProteinModelPortalQ9H2E6.
SMRQ9H2E6. Positions 20-568.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121612. 6 interactions.
IntActQ9H2E6. 5 interactions.
STRING9606.ENSP00000345512.

PTM databases

PhosphoSiteQ9H2E6.

Polymorphism databases

DMDM296452903.

Proteomic databases

PaxDbQ9H2E6.
PRIDEQ9H2E6.

Protocols and materials databases

DNASU57556.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000257414; ENSP00000257414; ENSG00000092421. [Q9H2E6-2]
ENST00000343348; ENSP00000345512; ENSG00000092421. [Q9H2E6-1]
ENST00000510263; ENSP00000424388; ENSG00000092421. [Q9H2E6-1]
GeneID57556.
KEGGhsa:57556.
UCSCuc003krx.4. human. [Q9H2E6-2]
uc010jcj.3. human. [Q9H2E6-1]

Organism-specific databases

CTD57556.
GeneCardsGC05M115807.
H-InvDBHIX0120999.
HIX0164350.
HGNCHGNC:10738. SEMA6A.
HPAHPA031265.
MIM605885. gene.
neXtProtNX_Q9H2E6.
PharmGKBPA35660.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG293968.
HOGENOMHOG000232047.
HOVERGENHBG072910.
KOK06842.
OMALMHNGKL.
OrthoDBEOG7SV0TJ.
PhylomeDBQ9H2E6.
TreeFamTF316102.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.

Gene expression databases

ArrayExpressQ9H2E6.
BgeeQ9H2E6.
CleanExHS_SEMA6A.
GenevestigatorQ9H2E6.

Family and domain databases

Gene3D2.130.10.10. 1 hit.
InterProIPR016201. Plexin-like_fold.
IPR002165. Plexin_repeat.
IPR001627. Semap_dom.
IPR027231. Semaphorin.
IPR015943. WD40/YVTN_repeat-like_dom.
[Graphical view]
PANTHERPTHR11036. PTHR11036. 1 hit.
PfamPF01437. PSI. 1 hit.
PF01403. Sema. 1 hit.
[Graphical view]
SMARTSM00423. PSI. 1 hit.
SM00630. Sema. 1 hit.
[Graphical view]
SUPFAMSSF101912. SSF101912. 1 hit.
SSF103575. SSF103575. 1 hit.
PROSITEPS51004. SEMA. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSEMA6A. human.
GeneWikiSEMA6A.
GenomeRNAi57556.
NextBio64038.
PROQ9H2E6.
SOURCESearch...

Entry information

Entry nameSEM6A_HUMAN
AccessionPrimary (citable) accession number: Q9H2E6
Secondary accession number(s): Q9P2H9
Entry history
Integrated into UniProtKB/Swiss-Prot: April 11, 2003
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 112 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM