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Protein HEG (Heart of glass)

 HEG_DANRE               Reviewed;         977 AA.
Q6R8J2; Q6R8J3; Q6R8J4;
15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
05-JUL-2004, sequence version 1.
23-MAY-2018, entry version 92.
RecName: Full=Protein HEG;
AltName: Full=Heart of glass;
Flags: Precursor;
Name=heg;
Danio rerio (Zebrafish) (Brachydanio rerio).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
Cyprinidae; Danio.
NCBI_TaxID=7955;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), FUNCTION,
DEVELOPMENTAL STAGE, AND DISRUPTION PHENOTYPE.
TISSUE=Embryo;
PubMed=14680629; DOI=10.1016/j.cub.2003.11.055;
Mably J.D., Mohideen M.-A.P.K., Burns C.G., Chen J.-N., Fishman M.C.;
"Heart of glass regulates the concentric growth of the heart in
zebrafish.";
Curr. Biol. 13:2138-2147(2003).
[2]
FUNCTION, AND INTERACTION WITH CCM2 AND KRIT1.
PubMed=19151727; DOI=10.1038/nm.1918;
Kleaveland B., Zheng X., Liu J.J., Blum Y., Tung J.J., Zou Z.,
Sweeney S.M., Chen M., Guo L., Lu M.M., Zhou D., Kitajewski J.,
Affolter M., Ginsberg M.H., Kahn M.L.;
"Regulation of cardiovascular development and integrity by the heart
of glass-cerebral cavernous malformation protein pathway.";
Nat. Med. 15:169-176(2009).
-!- FUNCTION: Receptor component of the CCM signaling pathway which is
a crucial regulator of heart and vessel formation and integrity.
May act through the stabilization of endothelial cell junctions.
{ECO:0000269|PubMed:14680629, ECO:0000269|PubMed:19151727}.
-!- SUBUNIT: Interacts with CCM2 and KRIT1; KRIT1 markedly facilitates
interaction with CCM2. {ECO:0000269|PubMed:19151727}.
-!- SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000305};
Single-pass type I membrane protein {ECO:0000305}. Cell junction
{ECO:0000250}.
-!- SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000305}.
-!- SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000305}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1;
IsoId=Q6R8J2-1; Sequence=Displayed;
Name=2;
IsoId=Q6R8J2-2; Sequence=VSP_025277;
Name=3;
IsoId=Q6R8J2-3; Sequence=VSP_025278;
Note=May be produced at very low levels due to a premature stop
codon in the mRNA, leading to nonsense-mediated mRNA decay.;
-!- DEVELOPMENTAL STAGE: Expressed in the endocardium of developing
heart. {ECO:0000269|PubMed:14680629}.
-!- DISRUPTION PHENOTYPE: Death at embryonic stages due to heart
growth defects. {ECO:0000269|PubMed:14680629}.
-----------------------------------------------------------------------
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EMBL; AY507658; AAR87662.1; -; mRNA.
EMBL; AY507659; AAR87663.1; -; mRNA.
EMBL; AY507660; AAR87664.1; -; mRNA.
UniGene; Dr.29400; -.
ProteinModelPortal; Q6R8J2; -.
SMR; Q6R8J2; -.
STRING; 7955.ENSDARP00000012786; -.
PaxDb; Q6R8J2; -.
PRIDE; Q6R8J2; -.
ZFIN; ZDB-GENE-040714-1; heg1.
eggNOG; ENOG410IJZT; Eukaryota.
eggNOG; ENOG410Y1MK; LUCA.
HOGENOM; HOG000205757; -.
HOVERGEN; HBG100242; -.
InParanoid; Q6R8J2; -.
PhylomeDB; Q6R8J2; -.
PRO; PR:Q6R8J2; -.
Proteomes; UP000000437; Unplaced.
GO; GO:0030054; C:cell junction; IEA:UniProtKB-SubCell.
GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
GO; GO:0007043; P:cell-cell junction assembly; IMP:ZFIN.
GO; GO:0007507; P:heart development; IMP:ZFIN.
InterPro; IPR001881; EGF-like_Ca-bd_dom.
InterPro; IPR013032; EGF-like_CS.
InterPro; IPR000742; EGF-like_dom.
InterPro; IPR000152; EGF-type_Asp/Asn_hydroxyl_site.
InterPro; IPR018097; EGF_Ca-bd_CS.
InterPro; IPR028720; HEG.
PANTHER; PTHR24037; PTHR24037; 2.
Pfam; PF07645; EGF_CA; 1.
SMART; SM00181; EGF; 3.
SMART; SM00179; EGF_CA; 2.
PROSITE; PS00010; ASX_HYDROXYL; 1.
PROSITE; PS00022; EGF_1; 1.
PROSITE; PS01186; EGF_2; 1.
PROSITE; PS50026; EGF_3; 2.
PROSITE; PS01187; EGF_CA; 1.
1: Evidence at protein level;
Alternative splicing; Calcium; Cell junction; Cell membrane;
Complete proteome; Developmental protein; Disulfide bond;
EGF-like domain; Glycoprotein; Membrane; Reference proteome; Repeat;
Secreted; Signal; Transmembrane; Transmembrane helix.
SIGNAL 1 27 {ECO:0000255}.
CHAIN 28 977 Protein HEG.
/FTId=PRO_0000286982.
TRANSMEM 846 866 Helical. {ECO:0000255}.
DOMAIN 587 624 EGF-like 1. {ECO:0000255|PROSITE-
ProRule:PRU00076}.
DOMAIN 626 665 EGF-like 2; calcium-binding.
{ECO:0000255|PROSITE-ProRule:PRU00076}.
COMPBIAS 96 577 Thr-rich.
CARBOHYD 125 125 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 192 192 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 200 200 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 246 246 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 333 333 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 343 343 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 535 535 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 677 677 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 699 699 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 734 734 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 750 750 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 591 602 {ECO:0000255|PROSITE-ProRule:PRU00076}.
DISULFID 596 612 {ECO:0000255|PROSITE-ProRule:PRU00076}.
DISULFID 614 623 {ECO:0000255|PROSITE-ProRule:PRU00076}.
DISULFID 630 641 {ECO:0000255|PROSITE-ProRule:PRU00076}.
DISULFID 635 650 {ECO:0000255|PROSITE-ProRule:PRU00076}.
DISULFID 652 664 {ECO:0000255|PROSITE-ProRule:PRU00076}.
VAR_SEQ 830 871 Missing (in isoform 2).
{ECO:0000303|PubMed:14680629}.
/FTId=VSP_025277.
VAR_SEQ 842 977 Missing (in isoform 3).
{ECO:0000303|PubMed:14680629}.
/FTId=VSP_025278.
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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