BMP6
entrez
654
canonical
uniprot
P22004
canonical
ensembl
ENSG00000153162
resolver
ensp
ENSP00000283147
resolver
enst
ENST00000283147
resolver
genesymbol
BMP6
resolver
genesymbol_syn
VGR
resolver
hgnc
HGNC:1073
resolver
uniprot
B4DUF7
resolver
uniprot
Q4VBA3
resolver
uniprot
Q5TCP3
resolver
uniprot_entry
B4DUF7_HUMAN
resolver
uniprot_entry
BMP6_HUMAN
resolver
uniprot_entry
Q4VBA3_HUMAN
resolver
uniprot_sec
Q5TCP3
resolver
amino_acid_sequence
MPGLGRRAQWLCWWWGLLCSCCGPPPLRPPLPAAAAAAAGGQLLGDGGSPGRTEQPPPSPQSSSGFLYRRLKTQEKREMQKEILSVLGLPHRPRPLHGLQQPQPPALRQQEEQQQQQQLPRGEPPPGRLKSAPLFMLDLYNALSADNDEDGASEGERQQSWPHEAASSSQRRQPPPGAAHPLNRKSLLAPGSGSGGASPLTSAQDSAFLNDADMVMSFVNLVEYDKEFSPRQRHHKEFKFNLSQIPEGEVVTAAEFRIYKDCVMGSFKNQTFLISIYQVLQEHQHRDSDLFLLDTRVVWASEEGWLEFDITATSNLWVVTPQHNMGLQLSVVTRDGVHVHPRAAGLVGRDGPYDKQPFMVAFFKVSEVHVRTTRSASSRRRQQSRNRSTQSQDVARVSSASDYNSSELKTACRKHELYVSFQDLGWQDWIIAPKGYAANYCDGECSFPLNAHMNATNHAIVQTLVHLMNPEYVPKPCCAPTKLNAISVLYFDDNSNVILKKYRNMVVRACGCH
uniprot
proteins
disease_involvement
DISEASE: Iron overload (IO) [MIM:620121]: A disorder of iron homeostasis with incomplete and age-dependent penetrance. It is characterized by adult onset of increased hepatic and systemic iron levels, increased serum ferritin, normal or high transferrin saturation, and inappropriately low or normal levels of hepcidin. The severity of the phenotype depends on age, sex, as well as additional genetic or acquired factors including alcohol consumption and increased body weight. {ECO:0000269|PubMed:26582087, ECO:0000269|PubMed:27590690, ECO:0000269|PubMed:27591421, ECO:0000269|PubMed:28335084, ECO:0000269|PubMed:31640930, ECO:0000269|PubMed:32464486, ECO:0000269|PubMed:34037557}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes including cartilage and bone formation (PubMed:31019025). Also plays an important role in the regulation of HAMP/hepcidin expression and iron metabolism by acting as a ligand for hemojuvelin/HJV (PubMed:26582087). Also acts to promote expression of HAMP, potentially via the interaction with its receptor BMPR1A/ALK3 (PubMed:30097509, PubMed:31800957). Initiates the canonical BMP signaling cascade by associating with type I receptor ACVR1 and type II receptor ACVR2B (PubMed:18070108). In turn, ACVR1 propagates signal by phosphorylating SMAD1/5/8 that travel to the nucleus and act as activators and repressors of transcription of target. Can also signal through non-canonical pathway such as TAZ-Hippo signaling cascade to modulate VEGF signaling by regulating VEGFR2 expression (PubMed:33021694). {ECO:0000269|PubMed:18070108, ECO:0000269|PubMed:26582087, ECO:0000269|PubMed:30097509, ECO:0000269|PubMed:31019025, ECO:0000269|PubMed:31800957, ECO:0000269|PubMed:33021694}.
uniprot
proteins
mass_dalton
57226
uniprot
proteins
post_translational_modification
PTM: Glycosylated at Asn-454. Glycosylation is crucial for recognition by the activin receptor type I/ACVR1. {ECO:0000269|PubMed:18070108}.
uniprot
proteins
protein_family
TGF-beta family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17924656
uniprot
proteins
pubmed
18070108
uniprot
proteins
pubmed
2263636
uniprot
proteins
pubmed
26582087
uniprot
proteins
pubmed
27590690
uniprot
proteins
pubmed
27591421
uniprot
proteins
pubmed
28335084
uniprot
proteins
pubmed
30097509
uniprot
proteins
pubmed
31019025
uniprot
proteins
pubmed
31640930
uniprot
proteins
pubmed
31800957
uniprot
proteins
pubmed
32464486
uniprot
proteins
pubmed
33021694
uniprot
proteins
pubmed
34037557
uniprot
proteins
sequence_length
513
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:26582087}.
uniprot
proteins