GenomeNet

Database: UniProt
Entry: Q6R8J2
LinkDB: Q6R8J2
Original site: Q6R8J2 
ID   HEG_DANRE               Reviewed;         977 AA.
AC   Q6R8J2; Q6R8J3; Q6R8J4;
DT   15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT   05-JUL-2004, sequence version 1.
DT   23-MAY-2018, entry version 92.
DE   RecName: Full=Protein HEG;
DE   AltName: Full=Heart of glass;
DE   Flags: Precursor;
GN   Name=heg;
OS   Danio rerio (Zebrafish) (Brachydanio rerio).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC   Cyprinidae; Danio.
OX   NCBI_TaxID=7955;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), FUNCTION,
RP   DEVELOPMENTAL STAGE, AND DISRUPTION PHENOTYPE.
RC   TISSUE=Embryo;
RX   PubMed=14680629; DOI=10.1016/j.cub.2003.11.055;
RA   Mably J.D., Mohideen M.-A.P.K., Burns C.G., Chen J.-N., Fishman M.C.;
RT   "Heart of glass regulates the concentric growth of the heart in
RT   zebrafish.";
RL   Curr. Biol. 13:2138-2147(2003).
RN   [2]
RP   FUNCTION, AND INTERACTION WITH CCM2 AND KRIT1.
RX   PubMed=19151727; DOI=10.1038/nm.1918;
RA   Kleaveland B., Zheng X., Liu J.J., Blum Y., Tung J.J., Zou Z.,
RA   Sweeney S.M., Chen M., Guo L., Lu M.M., Zhou D., Kitajewski J.,
RA   Affolter M., Ginsberg M.H., Kahn M.L.;
RT   "Regulation of cardiovascular development and integrity by the heart
RT   of glass-cerebral cavernous malformation protein pathway.";
RL   Nat. Med. 15:169-176(2009).
CC   -!- FUNCTION: Receptor component of the CCM signaling pathway which is
CC       a crucial regulator of heart and vessel formation and integrity.
CC       May act through the stabilization of endothelial cell junctions.
CC       {ECO:0000269|PubMed:14680629, ECO:0000269|PubMed:19151727}.
CC   -!- SUBUNIT: Interacts with CCM2 and KRIT1; KRIT1 markedly facilitates
CC       interaction with CCM2. {ECO:0000269|PubMed:19151727}.
CC   -!- SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000305};
CC       Single-pass type I membrane protein {ECO:0000305}. Cell junction
CC       {ECO:0000250}.
CC   -!- SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000305}.
CC   -!- SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000305}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q6R8J2-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q6R8J2-2; Sequence=VSP_025277;
CC       Name=3;
CC         IsoId=Q6R8J2-3; Sequence=VSP_025278;
CC         Note=May be produced at very low levels due to a premature stop
CC         codon in the mRNA, leading to nonsense-mediated mRNA decay.;
CC   -!- DEVELOPMENTAL STAGE: Expressed in the endocardium of developing
CC       heart. {ECO:0000269|PubMed:14680629}.
CC   -!- DISRUPTION PHENOTYPE: Death at embryonic stages due to heart
CC       growth defects. {ECO:0000269|PubMed:14680629}.
DR   EMBL; AY507658; AAR87662.1; -; mRNA.
DR   EMBL; AY507659; AAR87663.1; -; mRNA.
DR   EMBL; AY507660; AAR87664.1; -; mRNA.
DR   UniGene; Dr.29400; -.
DR   ProteinModelPortal; Q6R8J2; -.
DR   SMR; Q6R8J2; -.
DR   STRING; 7955.ENSDARP00000012786; -.
DR   PaxDb; Q6R8J2; -.
DR   PRIDE; Q6R8J2; -.
DR   ZFIN; ZDB-GENE-040714-1; heg1.
DR   eggNOG; ENOG410IJZT; Eukaryota.
DR   eggNOG; ENOG410Y1MK; LUCA.
DR   HOGENOM; HOG000205757; -.
DR   HOVERGEN; HBG100242; -.
DR   InParanoid; Q6R8J2; -.
DR   PhylomeDB; Q6R8J2; -.
DR   PRO; PR:Q6R8J2; -.
DR   Proteomes; UP000000437; Unplaced.
DR   GO; GO:0030054; C:cell junction; IEA:UniProtKB-SubCell.
DR   GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR   GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR   GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR   GO; GO:0007043; P:cell-cell junction assembly; IMP:ZFIN.
DR   GO; GO:0007507; P:heart development; IMP:ZFIN.
DR   InterPro; IPR001881; EGF-like_Ca-bd_dom.
DR   InterPro; IPR013032; EGF-like_CS.
DR   InterPro; IPR000742; EGF-like_dom.
DR   InterPro; IPR000152; EGF-type_Asp/Asn_hydroxyl_site.
DR   InterPro; IPR018097; EGF_Ca-bd_CS.
DR   InterPro; IPR028720; HEG.
DR   PANTHER; PTHR24037; PTHR24037; 2.
DR   Pfam; PF07645; EGF_CA; 1.
DR   SMART; SM00181; EGF; 3.
DR   SMART; SM00179; EGF_CA; 2.
DR   PROSITE; PS00010; ASX_HYDROXYL; 1.
DR   PROSITE; PS00022; EGF_1; 1.
DR   PROSITE; PS01186; EGF_2; 1.
DR   PROSITE; PS50026; EGF_3; 2.
DR   PROSITE; PS01187; EGF_CA; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Calcium; Cell junction; Cell membrane;
KW   Complete proteome; Developmental protein; Disulfide bond;
KW   EGF-like domain; Glycoprotein; Membrane; Reference proteome; Repeat;
KW   Secreted; Signal; Transmembrane; Transmembrane helix.
FT   SIGNAL        1     27       {ECO:0000255}.
FT   CHAIN        28    977       Protein HEG.
FT                                /FTId=PRO_0000286982.
FT   TRANSMEM    846    866       Helical. {ECO:0000255}.
FT   DOMAIN      587    624       EGF-like 1. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00076}.
FT   DOMAIN      626    665       EGF-like 2; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   COMPBIAS     96    577       Thr-rich.
FT   CARBOHYD    125    125       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    192    192       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    200    200       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    246    246       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    333    333       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    343    343       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    535    535       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    677    677       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    699    699       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    734    734       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    750    750       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   DISULFID    591    602       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    596    612       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    614    623       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    630    641       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    635    650       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    652    664       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   VAR_SEQ     830    871       Missing (in isoform 2).
FT                                {ECO:0000303|PubMed:14680629}.
FT                                /FTId=VSP_025277.
FT   VAR_SEQ     842    977       Missing (in isoform 3).
FT                                {ECO:0000303|PubMed:14680629}.
FT                                /FTId=VSP_025278.
SQ   SEQUENCE   977 AA;  105529 MW;  8A82B3D61FE48A1A CRC64;
     MMETCARRVL FTAALLVLST VIAETFSTDS DTDNPLSTET FYSRASGLKQ TSSWPGREAT
     ATAVDLSSGL GEMTEIPASV SITAAREGHS PKPLQTSTNA ADWKTSTTSD ETTEHLQSDT
     ELTHNATAQW ESPSSASHSI TSHHPVTETR TVRDVTDLID MDTTDSVSHT DSTYISTTNR
     VGERTLLSVI SNSTFAYTQN SSISDAESQT SPWEEKTSGA TQVNEETEET VSTVSEQTDP
     TFEGRNTTSA TLETERSTLS QGTESQTGQP SVTGQTAKEV TDIDNPNSTP PLTVTSRDVE
     ETDATSVSSE TSYTQTSSDS ASSILPFTSS EHNVTSTSQE SHNSTLIYST NTGGSTEFST
     GSVSSTAHEE TERSSTRIVD ETTLHDVTSA PPVLEDVATT IDDSLSKFPS GQSPTIPKTD
     DQTNTQVVPT STHRPQVTDE ATDEVSTVYS STTTLTTTTP SVTTRQLQPH YTTVQTQTQH
     TTIVTTDIIQ VLRTTPSTAH HVPTLTTSGP QAPSTADSSD VTTLHLETST ATPGNTTAHG
     GRATTPFSKS SPGRTTVVVT TGHLTDKSTT ETGSATTQMP LRTSASPGHV CGPKTCANGG
     HCVRSAEGSY YCQCLSAWTG PFCTEDVDEC VNSPCPQGSV CVNTGGSFSC ECDLGFDLED
     GRSCTQVKTF LGTFTVNNSL HLRNLGLHEL HREIQQLLNA SLSIFHGYRR FTLGKRDGQG
     VQIPVVSMFS LSSNVTSADV FNSIQMSLNN CSRTYSHCPI KLQHQLSYHV ESLCMAQKTK
     CDVQYSDCSD ISGIPNCQCL PGYFKRNPED MTCRDCGDGL KLVNGKCVEC MFGFGGFNCN
     NFYKLIAVVV SPAGGALLLI VVIALIVTCC KKDKNDINKI IFKSGELQMS PYAEFPKSNR
     VSMEWGRETI EMQENGSTKN LLQMTDIYYS PALRNSDLER NGLYPFSGLP GSRHSCIYPA
     QWNPSFLSDD SRRRDYF
//
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