KEGG   Homo sapiens (human): 148738Help
Entry
148738            CDS       T01001                                 

Gene name
HJV, HFE2, HFE2A, JH, RGMC
Definition
(RefSeq) hemojuvelin BMP co-receptor
  KO
K23100  hemojuvelin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04350  TGF-beta signaling pathway
Disease
H00211  Hemochromatosis (HFE)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04350 TGF-beta signaling pathway
    148738 (HJV)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: RGM_C RGM_N
Motif
Other DBs
NCBI-GeneID: 148738
NCBI-ProteinID: NP_998818
OMIM: 608374
HGNC: 4887
Ensembl: ENSG00000168509
Vega: OTTHUMG00000013748
Pharos: Q6ZVN8(Tbio)
UniProt: Q6ZVN8 A0A024R4F5
Structure
PDB: 

Position
1q21.1
AA seq 426 aa AA seqDB search
MGEPGQSPSPRSSHGSPPTLSTLTLLLLLCGHAHSQCKILRCNAEYVSSTLSLRGGGSSG
ALRGGGGGGRGGGVGSGGLCRALRSYALCTRRTARTCRGDLAFHSAVHGIEDLMIQHNCS
RQGPTAPPPPRGPALPGAGSGLPAPDPCDYEGRFSRLHGRPPGFLHCASFGDPHVRSFHH
HFHTCRVQGAWPLLDNDFLFVQATSSPMALGANATATRKLTIIFKNMQECIDQKVYQAEV
DNLPVAFEDGSINGGDRPGGSSLSIQTANPGNHVEIQAAYIGTTIIIRQTAGQLSFSIKV
AEDVAMAFSAEQDLQLCVGGCPPSQRLSRSERNRRGAITIDTARRLCKEGLPVEDAYFHS
CVFDVLISGDPNFTVAAQAALEDARAFLPDLEKLHLFPSDAGVPLSSATLLAPLLSGLFV
LWLCIQ
NT seq 1281 nt NT seq  +upstreamnt  +downstreamnt
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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