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Q9H2E6

- SEM6A_HUMAN

UniProt

Q9H2E6 - SEM6A_HUMAN

Protein

Semaphorin-6A

Gene

SEMA6A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    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

    1. protein binding Source: UniProtKB
    2. transmembrane signaling receptor activity Source: Ensembl

    GO - Biological processi

    1. apoptotic process Source: UniProtKB
    2. axon guidance Source: UniProtKB
    3. cell surface receptor signaling pathway Source: UniProtKB
    4. centrosome localization Source: Ensembl
    5. cytoskeleton organization Source: UniProtKB
    6. nervous system development Source: UniProtKB
    7. neuron migration Source: Ensembl
    8. organ morphogenesis Source: UniProtKB
    9. positive regulation of neuron migration Source: Ensembl
    10. semaphorin-plexin signaling pathway Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Neurogenesis

    Enzyme and pathway databases

    ReactomeiREACT_19200. 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
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:10738. SEMA6A.

    Subcellular locationi

    GO - Cellular componenti

    1. axon Source: UniProtKB
    2. integral component of membrane Source: UniProtKB
    3. integral component of plasma membrane Source: Ensembl

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA35660.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1818Sequence AnalysisAdd
    BLAST
    Chaini19 – 10301012Semaphorin-6APRO_0000032339Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi33 – 331N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi49 – 491N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi65 – 651N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi107 ↔ 117PROSITE-ProRule annotation
    Disulfide bondi135 ↔ 144PROSITE-ProRule annotation
    Disulfide bondi258 ↔ 369PROSITE-ProRule annotation
    Glycosylationi282 – 2821N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi283 ↔ 328PROSITE-ProRule annotation
    Glycosylationi434 – 4341N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi461 – 4611N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi477 ↔ 506PROSITE-ProRule annotation
    Disulfide bondi515 ↔ 533PROSITE-ProRule annotation
    Disulfide bondi521 ↔ 568PROSITE-ProRule annotation
    Disulfide bondi525 ↔ 542PROSITE-ProRule annotation
    Modified residuei698 – 6981Phosphoserine1 Publication
    Modified residuei952 – 9521Phosphoserine1 Publication
    Modified residuei988 – 9881Phosphoserine1 Publication

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    PaxDbiQ9H2E6.
    PRIDEiQ9H2E6.

    PTM databases

    PhosphoSiteiQ9H2E6.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9H2E6.
    BgeeiQ9H2E6.
    CleanExiHS_SEMA6A.
    GenevestigatoriQ9H2E6.

    Organism-specific databases

    HPAiHPA031265.

    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

    Protein-protein interaction databases

    BioGridi121612. 6 interactions.
    IntActiQ9H2E6. 5 interactions.
    STRINGi9606.ENSP00000345512.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H2E6.
    SMRiQ9H2E6. Positions 20-568.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini19 – 649631ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini671 – 1030360CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei650 – 67021HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini24 – 512489SemaPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi792 – 81928Pro-richAdd
    BLAST

    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

    eggNOGiNOG293968.
    HOGENOMiHOG000232047.
    HOVERGENiHBG072910.
    KOiK06842.
    OMAiLMHNGKL.
    OrthoDBiEOG7SV0TJ.
    PhylomeDBiQ9H2E6.
    TreeFamiTF316102.

    Family and domain databases

    Gene3Di2.130.10.10. 1 hit.
    InterProiIPR016201. Plexin-like_fold.
    IPR002165. Plexin_repeat.
    IPR001627. Semap_dom.
    IPR027231. Semaphorin.
    IPR015943. WD40/YVTN_repeat-like_dom.
    [Graphical view]
    PANTHERiPTHR11036. PTHR11036. 1 hit.
    PfamiPF01437. PSI. 1 hit.
    PF01403. Sema. 1 hit.
    [Graphical view]
    SMARTiSM00423. PSI. 1 hit.
    SM00630. Sema. 1 hit.
    [Graphical view]
    SUPFAMiSSF101912. SSF101912. 1 hit.
    SSF103575. SSF103575. 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. Align

    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

    MRSEALLLYF TLLHFAGAGF PEDSEPISIS HGNYTKQYPV FVGHKPGRNT     50
    TQRHRLDIQM IMIMNGTLYI AARDHIYTVD IDTSHTEEIY CSKKLTWKSR 100
    QADVDTCRMK GKHKDECHNF IKVLLKKNDD ALFVCGTNAF NPSCRNYKMD 150
    TLEPFGDEFS GMARCPYDAK HANVALFADG KLYSATVTDF LAIDAVIYRS 200
    LGESPTLRTV KHDSKWLKEP YFVQAVDYGD YIYFFFREIA VEYNTMGKVV 250
    FPRVAQVCKN DMGGSQRVLE KQWTSFLKAR LNCSVPGDSH FYFNILQAVT 300
    DVIRINGRDV VLATFSTPYN SIPGSAVCAY DMLDIASVFT GRFKEQKSPD 350
    STWTPVPDER VPKPRPGCCA GSSSLERYAT SNEFPDDTLN FIKTHPLMDE 400
    AVPSIFNRPW FLRTMVRYRL TKIAVDTAAG PYQNHTVVFL GSEKGIILKF 450
    LARIGNSGFL NDSLFLEEMS VYNSEKCSYD GVEDKRIMGM QLDRASSSLY 500
    VAFSTCVIKV PLGRCERYGK CKKTCIASRD PYCGWIKEGG ACSHLSPNSR 550
    LTFEQDIERG NTDGLGDCHN SFVALNGHSS SLLPSTTTSD STAQEGYESR 600
    GGMLDWKHLL DSPDSTDPLG AVSSHNHQDK KGVIRESYLK GHDQLVPVTL 650
    LAIAVILAFV MGAVFSGITV YCVCDHRRKD VAVVQRKEKE LTHSRRGSMS 700
    SVTKLSGLFG DTQSKDPKPE AILTPLMHNG KLATPGNTAK MLIKADQHHL 750
    DLTALPTPES TPTLQQKRKP SRGSREWERN QNLINACTKD MPPMGSPVIP 800
    TDLPLRASPS HIPSVVVLPI TQQGYQHEYV DQPKMSEVAQ MALEDQAATL 850
    EYKTIKEHLS SKSPNHGVNL VENLDSLPPK VPQREASLGP PGASLSQTGL 900
    SKRLEMHHSS SYGVDYKRSY PTNSLTRSHQ ATTLKRNNTN SSNSSHLSRN 950
    QSFGRGDNPP PAPQRVDSIQ VHSSQPSGQA VTVSRQPSLN AYNSLTRSGL 1000
    KRTPSLKPDV PPKPSFAPLS TSMKPNDACT 1030
    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 BAA92606.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti518 – 5181Y → H.2 Publications
    Corresponds to variant rs34966 [ dbSNP | Ensembl ].
    VAR_030296
    Natural varianti559 – 5591R → H.
    Corresponds to variant rs17432496 [ dbSNP | Ensembl ].
    VAR_030297
    Natural varianti567 – 5671D → E.
    Corresponds to variant rs12516652 [ dbSNP | Ensembl ].
    VAR_030298

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei576 – 5761N → NDISTPLPDNEMSYNTVY in isoform 2. CuratedVSP_007113

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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]
    RefSeqiNP_065847.1. NM_020796.3.
    UniGeneiHs.156967.

    Genome annotation databases

    EnsembliENST00000257414; ENSP00000257414; ENSG00000092421. [Q9H2E6-2]
    ENST00000343348; ENSP00000345512; ENSG00000092421. [Q9H2E6-1]
    ENST00000510263; ENSP00000424388; ENSG00000092421. [Q9H2E6-1]
    GeneIDi57556.
    KEGGihsa:57556.
    UCSCiuc003krx.4. human. [Q9H2E6-2]
    uc010jcj.3. human. [Q9H2E6-1]

    Polymorphism databases

    DMDMi296452903.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    CCDSi CCDS47256.1. [Q9H2E6-1 ]
    RefSeqi NP_065847.1. NM_020796.3.
    UniGenei Hs.156967.

    3D structure databases

    ProteinModelPortali Q9H2E6.
    SMRi Q9H2E6. Positions 20-568.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121612. 6 interactions.
    IntActi Q9H2E6. 5 interactions.
    STRINGi 9606.ENSP00000345512.

    PTM databases

    PhosphoSitei Q9H2E6.

    Polymorphism databases

    DMDMi 296452903.

    Proteomic databases

    PaxDbi Q9H2E6.
    PRIDEi Q9H2E6.

    Protocols and materials databases

    DNASUi 57556.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000257414 ; ENSP00000257414 ; ENSG00000092421 . [Q9H2E6-2 ]
    ENST00000343348 ; ENSP00000345512 ; ENSG00000092421 . [Q9H2E6-1 ]
    ENST00000510263 ; ENSP00000424388 ; ENSG00000092421 . [Q9H2E6-1 ]
    GeneIDi 57556.
    KEGGi hsa:57556.
    UCSCi uc003krx.4. human. [Q9H2E6-2 ]
    uc010jcj.3. human. [Q9H2E6-1 ]

    Organism-specific databases

    CTDi 57556.
    GeneCardsi GC05M115807.
    H-InvDB HIX0120999.
    HIX0164350.
    HGNCi HGNC:10738. SEMA6A.
    HPAi HPA031265.
    MIMi 605885. gene.
    neXtProti NX_Q9H2E6.
    PharmGKBi PA35660.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG293968.
    HOGENOMi HOG000232047.
    HOVERGENi HBG072910.
    KOi K06842.
    OMAi LMHNGKL.
    OrthoDBi EOG7SV0TJ.
    PhylomeDBi Q9H2E6.
    TreeFami TF316102.

    Enzyme and pathway databases

    Reactomei REACT_19200. Other semaphorin interactions.

    Miscellaneous databases

    ChiTaRSi SEMA6A. human.
    GeneWikii SEMA6A.
    GenomeRNAii 57556.
    NextBioi 64038.
    PROi Q9H2E6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H2E6.
    Bgeei Q9H2E6.
    CleanExi HS_SEMA6A.
    Genevestigatori Q9H2E6.

    Family and domain databases

    Gene3Di 2.130.10.10. 1 hit.
    InterProi IPR016201. Plexin-like_fold.
    IPR002165. Plexin_repeat.
    IPR001627. Semap_dom.
    IPR027231. Semaphorin.
    IPR015943. WD40/YVTN_repeat-like_dom.
    [Graphical view ]
    PANTHERi PTHR11036. PTHR11036. 1 hit.
    Pfami PF01437. PSI. 1 hit.
    PF01403. Sema. 1 hit.
    [Graphical view ]
    SMARTi SM00423. PSI. 1 hit.
    SM00630. Sema. 1 hit.
    [Graphical view ]
    SUPFAMi SSF101912. SSF101912. 1 hit.
    SSF103575. SSF103575. 1 hit.
    PROSITEi PS51004. SEMA. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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].

    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: October 1, 2014
    This is version 116 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

    External Data

    Dasty 3