|HECAM_HUMAN » Hepatocyte cell adhesion molecule » Protein hepaCAM;|
|Hydrophobic Thickness||31.6 ± 1.8 Å|
|Tilt Angle||1 ± 1°|
|Links||UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC|
|TM Segments||241-265 (240-271)|
|UniProt annotation for HECAM_HUMAN » Hepatocyte cell adhesion molecule|
|FUNCTION: Involved in regulating cell motility and cell-matrix interactions. May inhibit cell growth through suppression of cell proliferation. SUBUNIT: Homodimer. Dimer formation occurs predominantly through cis interactions on the cell surface. Part of a complex containing MLC1, TRPV4, AQP4 and ATP1B1. INDUCTION: Down-regulated in 20 out of 23 of hepatocellular carcinoma (HCC) samples and is undetectable in 5 HCC cell lines tested. DOMAIN: The cytoplasmic domain plays an important role in regulation of cell-matrix adhesion and cell motility. DISEASE: Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) OMIM: A neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. The brain appears swollen on magnetic resonance imaging with white-matter abnormalities and subcortical cysts, in all stages of the disease. mutations affecting the gene represented in this entry. DISEASE: Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B) OMIM: A neurodegenerative disorder characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white-matter abnormalities on brain magnetic resonance imaging. The phenotype is milder that MLC2A, with better preserved cerebellar white matter and no subcortical cysts outside the temporal region. On follow-up, patients show normal or almost normal motor function. Some patients have normal intelligence, whereas others have a significant cognitive deficiency. Note=The disease is caused by mutations affecting the gene represented in this entry.|
|UniProt features for HECAM_HUMAN » Hepatocyte cell adhesion molecule|
SIGNAL 1 33 Potential. |
CHAIN 34 416 Hepatocyte cell adhesion molecule.
DOMAIN 34 142 Ig-like V-type.
DOMAIN 148 234 Ig-like C2-type.
DISULFID 168 217 By similarity.
|Amino Acid Sequence for HECAM_HUMAN » Hepatocyte cell adhesion molecule|
|MKRERGALSR ASRALRLAPF VYLLLIQTDP LEGVNITSPV RLIHGTVGKS ALLSVQYSST SSDRPVVKWQ LKRDKPVTVV QSIGTEVIGT LRPDYRDRIR LFENGSLLLS DLQLADEGTY EVEISITDDT FTGEKTINLT VDVPISRPQV LVASTTVLEL SEAFTLNCSH ENGTKPSYTW LKDGKPLLND SRMLLSPDQK VLTITRVLME DDDLYSCMVE NPISQGRSLP VKITVYRRSS LYIILSTGGI FLLVTLVTVC ACWKPSKRKQ KKLEKQNSLE YMDQNDDRLK PEADTLPRSG EQERKNPMAL YILKDKDSPE TEENPAPEPR SATEPGPPGY SVSPAVPGRS PGLPIRSARR YPRSPARSPA TGRTHSSPPR APSSPGRSRS ASRTLRTAGV HIIREQDEAG PVEISA|