Search
hemojuvelin (hemochromatosis type 2 protein, RGM domain family member C, HFE2, HJV, RGMC)
Function:
1) iron metabolism
2) component of signaling pathway which activates hepcidin (HAMP)
3) may cooperate with hepcidin to restrict iron absorption in the intestine
4) modulator of hepcidin expression ?
5) cellular receptor for hepcidin ?
Structure:
- belongs to the repulsive guidance molecule family
Compartment: cell membrane, GPI-anchor
Alternative splicing: named isoforms=3
Expression:
- expressed in adult & fetal liver, heart, skeletal muscle
Pathology:
1) defects in HFE2 are the cause of hemochromatosis type 2A
2) deleterious mutations are associated with reduced hepcidin despite iron overload
General
repulsive guidance molecule (RGM) family (RGM domain family)
Properties
SIZE: MW = 45 kD
entity length = 426 aa
COMPARTMENT: plasma membrane
CELL-REGION: apical region
CELL: epithelial cell
MOTIF: signal sequence {1-35}
glycine-rich region {64-78}
N-glycosylation site {N118}
proline-rich region
SITE: 127-130
MOTIF: proline residue (SEVERAL)
N-glycosylation site {N213}
N-glycosylation site {N372}
glycosyl phosphatidylinositol [GPI] membrane anchor {C-TERMINUS}
Database Correlations
OMIM correlations
MORBIDMAP 608374
UniProt Q6ZVN8
PFAM correlations
References
- UniProt :accession Q6ZVN8
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=HJV