UniProt functional annotation for Q99075

UniProt code: Q99075.

Organism: Homo sapiens (Human).
Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
 
Function: Growth factor that mediates its effects via EGFR, ERBB2 and ERBB4. Required for normal cardiac valve formation and normal heart function. Promotes smooth muscle cell proliferation. May be involved in macrophage-mediated cellular proliferation. It is mitogenic for fibroblasts, but not endothelial cells. It is able to bind EGF receptor/EGFR with higher affinity than EGF itself and is a far more potent mitogen for smooth muscle cells than EGF. Also acts as a diphtheria toxin receptor.
 
Subunit: Interacts with FBLN1 (By similarity). Interacts with EGFR and ERBB4. {ECO:0000250, ECO:0000269|PubMed:9135143, ECO:0000269|PubMed:9659904}.
Subcellular location: [Heparin-binding EGF-like growth factor]: Secreted, extracellular space. Note=Mature HB-EGF is released into the extracellular space and probably binds to a receptor.
Subcellular location: [Proheparin-binding EGF-like growth factor]: Cell membrane; Single-pass type I membrane protein.
Ptm: Several N-termini have been identified by direct sequencing. The forms with N-termini 63, 73 and 74 have been tested and found to be biologically active.
Ptm: O-glycosylated with core 1 or possibly core 8 glycans. Thr-47 is a minor glycosylation site compared to Thr-44. {ECO:0000269|PubMed:1556128, ECO:0000269|PubMed:22171320, ECO:0000269|PubMed:23234360}.

Annotations taken from UniProtKB at the EBI.