Homo sapiens (human): 148738
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Entry
148738 CDS
T01001
Symbol
HJV, HFE2, HFE2A, JH, RGMC
Name
(RefSeq) hemojuvelin BMP co-receptor
KO
K23100
hemojuvelin
Organism
hsa
Homo sapiens (human)
Pathway
hsa04350
TGF-beta signaling pathway
Network
nt06507
TGFB signaling
Element
N01461
BMP-HAMP signaling pathway, auxiliary factor
Disease
H00211
Hemochromatosis
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09130 Environmental Information Processing
09132 Signal transduction
04350 TGF-beta signaling pathway
148738 (HJV)
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Gene cluster
GFIT
Motif
Pfam:
RGM_N
RGM_C
RhlB
Motif
Other DBs
NCBI-GeneID:
148738
NCBI-ProteinID:
NP_998818
OMIM:
608374
HGNC:
4887
Ensembl:
ENSG00000168509
UniProt:
Q6ZVN8
Structure
PDB
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All DBs
Position
1:complement(146017470..146021735)
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AA seq
426 aa
AA seq
DB search
MGEPGQSPSPRSSHGSPPTLSTLTLLLLLCGHAHSQCKILRCNAEYVSSTLSLRGGGSSG
ALRGGGGGGRGGGVGSGGLCRALRSYALCTRRTARTCRGDLAFHSAVHGIEDLMIQHNCS
RQGPTAPPPPRGPALPGAGSGLPAPDPCDYEGRFSRLHGRPPGFLHCASFGDPHVRSFHH
HFHTCRVQGAWPLLDNDFLFVQATSSPMALGANATATRKLTIIFKNMQECIDQKVYQAEV
DNLPVAFEDGSINGGDRPGGSSLSIQTANPGNHVEIQAAYIGTTIIIRQTAGQLSFSIKV
AEDVAMAFSAEQDLQLCVGGCPPSQRLSRSERNRRGAITIDTARRLCKEGLPVEDAYFHS
CVFDVLISGDPNFTVAAQAALEDARAFLPDLEKLHLFPSDAGVPLSSATLLAPLLSGLFV
LWLCIQ
NT seq
1281 nt
NT seq
+upstream
nt +downstream
nt
atgggggagccaggccagtcccctagtcccaggtcctcccatggcagtcccccaactcta
agcactctcactctcctgctgctcctctgtggacatgctcattctcaatgcaagatcctc
cgctgcaatgctgagtacgtatcgtccactctgagccttagaggtgggggttcatcagga
gcacttcgaggaggaggaggaggaggccggggtggaggggtgggctctggcggcctctgt
cgagccctccgctcctatgcgctctgcactcggcgcaccgcccgcacctgccgcggggac
ctcgccttccattcggcggtacatggcatcgaagacctgatgatccagcacaactgctcc
cgccagggccctacagcccctcccccgccccggggccccgcccttccaggcgcgggctcc
ggcctccctgccccggacccttgtgactatgaaggccggttttcccggctgcatggtcgt
cccccggggttcttgcattgcgcttccttcggggacccccatgtgcgcagcttccaccat
cactttcacacatgccgtgtccaaggagcttggcctctactggataatgacttcctcttt
gtccaagccaccagctcccccatggcgttgggggccaacgctaccgccacccggaagctc
accatcatatttaagaacatgcaggaatgcattgatcagaaggtgtatcaggctgaggtg
gataatcttcctgtagcctttgaagatggttctatcaatggaggtgaccgacctggggga
tccagtttgtcgattcaaactgctaaccctgggaaccatgtggagatccaagctgcctac
attggcacaactataatcattcggcagacagctgggcagctctccttctccatcaaggta
gcagaggatgtggccatggccttctcagctgaacaggacctgcagctctgtgttgggggg
tgccctccaagtcagcgactctctcgatcagagcgcaatcgtcggggagctataaccatt
gatactgccagacggctgtgcaaggaagggcttccagtggaagatgcttacttccattcc
tgtgtctttgatgttttaatttctggtgatcccaactttaccgtggcagctcaggcagca
ctggaggatgcccgagccttcctgccagacttagagaagctgcatctcttcccctcagat
gctggggttcctctttcctcagcaaccctcttagctccactcctttctgggctctttgtt
ctgtggctttgcattcagtaa
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