Protein: Protein HEG (Heart of glass) (Q6R8J2)
Organism: Danio rerio (Zebrafish) (Brachydanio rerio)
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.
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}.
Sequence: MMETCARRVLFTAALLVLSTVIAETFSTDSDTDNPLSTETFYSRASGLKQTSSWPGREATATAVDLSSGLGEMTEIPASVSITAAREGHSPKPLQTSTNAADWKTSTTSDETTEHLQSDTELTHNATAQWESPSSASHSITSHHPVTETRTVRDVTDLIDMDTTDSVSHTDSTYISTTNRVGERTLLSVISNSTFAYTQNSSISDAESQTSPWEEKTSGATQVNEETEETVSTVSEQTDPTFEGRNTTSATLETERSTLSQGTESQTGQPSVTGQTAKEVTDIDNPNSTPPLTVTSRDVEETDATSVSSETSYTQTSSDSASSILPFTSSEHNVTSTSQESHNSTLIYSTNTGGSTEFSTGSVSSTAHEETERSSTRIVDETTLHDVTSAPPVLEDVATTIDDSLSKFPSGQSPTIPKTDDQTNTQVVPTSTHRPQVTDEATDEVSTVYSSTTTLTTTTPSVTTRQLQPHYTTVQTQTQHTTIVTTDIIQVLRTTPSTAHHVPTLTTSGPQAPSTADSSDVTTLHLETSTATPGNTTAHGGRATTPFSKSSPGRTTVVVTTGHLTDKSTTETGSATTQMPLRTSASPGHVCGPKTCANGGHCVRSAEGSYYCQCLSAWTGPFCTEDVDECVNSPCPQGSVCVNTGGSFSCECDLGFDLEDGRSCTQVKTFLGTFTVNNSLHLRNLGLHELHREIQQLLNASLSIFHGYRRFTLGKRDGQGVQIPVVSMFSLSSNVTSADVFNSIQMSLNNCSRTYSHCPIKLQHQLSYHVESLCMAQKTKCDVQYSDCSDISGIPNCQCLPGYFKRNPEDMTCRDCGDGLKLVNGKCVECMFGFGGFNCNNFYKLIAVVVSPAGGALLLIVVIALIVTCCKKDKNDINKIIFKSGELQMSPYAEFPKSNRVSMEWGRETIEMQENGSTKNLLQMTDIYYSPALRNSDLERNGLYPFSGLPGSRHSCIYPAQWNPSFLSDDSRRRDYF
InterPro domains: - IPR001881: EGF-like calcium-binding domain (domain) [591-665]
- IPR018097: EGF-like calcium-binding, conserved site (conserved_site) [626-650]
- IPR000152: EGF-type aspartate/asparagine hydroxylation site (ptm) [641-652]
- IPR000742: EGF-like domain (domain) [587-828]
- IPR049883: NOTCH1 EGF-like calcium-binding domain (domain) [626-664]
Interaction partners: - Krev interaction trapped protein 1
- Cerebral cavernous malformations protein 2 homolog
- Programmed cell death protein 10-A
- Ras-interacting protein 1
- Krueppel-like factor 2a
Gene Ontology annotations:
Molecular Function (MF): GO:0003674 (molecular function), GO:0005488 (binding), GO:0005515 (protein binding)
Biological Process (BP): GO:0008150 (biological process), GO:0032501 (multicellular organismal process), GO:0050896 (response to stimulus), GO:0032502 (developmental process), GO:0009987 (cellular process), GO:0048869 (cellular developmental process), GO:0009628 (response to abiotic stimulus), GO:0048856 (anatomical structure development), GO:0007275 (multicellular organism development), GO:0009653 (anatomical structure morphogenesis), GO:0048870 (cell motility), GO:0007163 (establishment or maintenance of cell polarity), GO:0007155 (cell adhesion), GO:0071840 (cellular component organization or biogenesis), GO:0007610 (behavior), GO:0048729 (tissue morphogenesis), GO:0030010 (establishment of cell polarity), GO:0098609 (cell-cell adhesion), GO:0048468 (cell development), GO:0030154 (cell differentiation), GO:0009314 (response to radiation), GO:0048731 (system development), GO:0048513 (animal organ development), GO:0035295 (tube development), GO:0000902 (cell morphogenesis), GO:0009887 (animal organ morphogenesis), GO:0048598 (embryonic morphogenesis), GO:0009888 (tissue development), GO:0009790 (embryo development), GO:0016043 (cellular component organization), GO:0016477 (cell migration), GO:0048839 (inner ear development), GO:0035239 (tube morphogenesis), GO:0071599 (otic vesicle development), GO:0060562 (epithelial tube morphogenesis), GO:0030030 (cell projection organization), GO:0042472 (inner ear morphogenesis), GO:0048562 (embryonic organ morphogenesis), GO:0007423 (sensory organ development), GO:0090596 (sensory organ morphogenesis), GO:0002009 (morphogenesis of an epithelium), GO:0048666 (neuron development), GO:0001667 (ameboidal-type cell migration), GO:0030855 (epithelial cell differentiation), GO:0002093 (auditory receptor cell morphogenesis), GO:0022008 (neurogenesis), GO:0000904 (cell morphogenesis involved in differentiation), GO:0048568 (embryonic organ development), GO:0007399 (nervous system development), GO:0001764 (neuron migration), GO:0008544 (epidermis development), GO:0060113 (inner ear receptor cell differentiation), GO:0060429 (epithelium development), GO:0030182 (neuron differentiation), GO:0048667 (cell morphogenesis involved in neuron differentiation), GO:0042490 (mechanoreceptor differentiation), GO:0045176 (apical protein localization), GO:0048592 (eye morphogenesis), GO:0001654 (eye development), GO:0030031 (cell projection assembly), GO:0043583 (ear development), GO:0120036 (plasma membrane bounded cell projection organization), GO:0042471 (ear morphogenesis), GO:0060119 (inner ear receptor cell development), GO:0035315 (hair cell differentiation), GO:0031175 (neuron projection development), GO:0048699 (generation of neurons), GO:0009913 (epidermal cell differentiation), GO:0042491 (inner ear auditory receptor cell differentiation), GO:0060117 (auditory receptor cell development), GO:0043010 (camera-type eye development), GO:0048593 (camera-type eye morphogenesis), GO:0060122 (inner ear receptor cell stereocilium organization)
Cellular Component (CC): GO:0005575 (cellular component), GO:0110165 (cellular anatomical entity), GO:0045177 (apical part of cell), GO:0071944 (cell periphery), GO:0016020 (membrane), GO:0098590 (plasma membrane region), GO:0005886 (plasma membrane), GO:0016324 (apical plasma membrane)