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Q9H2E6

- SEM6A_HUMAN

UniProt

Q9H2E6 - SEM6A_HUMAN

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Protein

Semaphorin-6A

Gene
SEMA6A, KIAA1368, SEMAQ
Organism
Homo sapiens (Human)
Status
Reviewed - 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.

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini19 – 649631Extracellular Reviewed predictionAdd
BLAST
Transmembranei650 – 67021Helical; Reviewed predictionAdd
BLAST
Topological domaini671 – 1030360Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

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

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA35660.

PTM / Processingi

Molecule processing

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

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi33 – 331N-linked (GlcNAc...) Reviewed prediction
Glycosylationi49 – 491N-linked (GlcNAc...) Reviewed prediction
Glycosylationi65 – 651N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi107 ↔ 117 By similarity
Disulfide bondi135 ↔ 144 By similarity
Disulfide bondi258 ↔ 369 By similarity
Glycosylationi282 – 2821N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi283 ↔ 328 By similarity
Glycosylationi434 – 4341N-linked (GlcNAc...) Reviewed prediction
Glycosylationi461 – 4611N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi477 ↔ 506 By similarity
Disulfide bondi515 ↔ 533 By similarity
Disulfide bondi521 ↔ 568 By similarity
Disulfide bondi525 ↔ 542 By similarity
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.1 Publication

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliQ9H2E6.
SMRiQ9H2E6. Positions 20-568.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini24 – 512489SemaAdd
BLAST

Compositional bias

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

Sequence similaritiesi

Belongs to the semaphorin family.
Contains 1 PSI domain.
Contains 1 Sema domain.

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. VSP_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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 115 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

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