KEGG   Homo sapiens (human): 3077
Entry
3077              CDS       T01001                                 
Symbol
HFE, HFE1, HH, HLA-H, MVCD7, TFQTL2
Name
(RefSeq) homeostatic iron regulator
  KO
K26535  hereditary hemochromatosis protein
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
H02559  Microvascular complications of diabetes
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04350 TGF-beta signaling pathway
    3077 (HFE)
SSDB
Motif
Pfam: MHC_I C1-set MHC_I_3 Ig_2 Insulin_TMD Orf78
Other DBs
NCBI-GeneID: 3077
NCBI-ProteinID: NP_000401
OMIM: 613609
HGNC: 4886
Ensembl: ENSG00000010704
UniProt: Q30201
Structure
Position
6:26087429..26098343
AA seq 348 aa
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVF
YDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQV
ILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNR
AYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWL
KDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPS
PSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAERE
NT seq 1047 nt   +upstreamnt  +downstreamnt
atgggcccgcgagccaggccggcgcttctcctcctgatgcttttgcagaccgcggtcctg
caggggcgcttgctgcgttcacactctctgcactacctcttcatgggtgcctcagagcag
gaccttggtctttccttgtttgaagctttgggctacgtggatgaccagctgttcgtgttc
tatgatcatgagagtcgccgtgtggagccccgaactccatgggtttccagtagaatttca
agccagatgtggctgcagctgagtcagagtctgaaagggtgggatcacatgttcactgtt
gacttctggactattatggaaaatcacaaccacagcaaggagtcccacaccctgcaggtc
atcctgggctgtgaaatgcaagaagacaacagtaccgagggctactggaagtacgggtat
gatgggcaggaccaccttgaattctgccctgacacactggattggagagcagcagaaccc
agggcctggcccaccaagctggagtgggaaaggcacaagattcgggccaggcagaacagg
gcctacctggagagggactgccctgcacagctgcagcagttgctggagctggggagaggt
gttttggaccaacaagtgcctcctttggtgaaggtgacacatcatgtgacctcttcagtg
accactctacggtgtcgggccttgaactactacccccagaacatcaccatgaagtggctg
aaggataagcagccaatggatgccaaggagttcgaacctaaagacgtattgcccaatggg
gatgggacctaccagggctggataaccttggctgtaccccctggggaagagcagagatat
acgtgccaggtggagcacccaggcctggatcagcccctcattgtgatctgggagccctca
ccgtctggcaccctagtcattggagtcatcagtggaattgctgtttttgtcgtcatcttg
ttcattggaattttgttcataatattaaggaagaggcagggttcaagaggagccatgggg
cactacgtcttagctgaacgtgagtga

  All links  
Disease (2)   
   OMIM (2)   
Gene (11)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (15)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (13)   
DNA sequence (87)   
   RefSeq(nuc) (17)   
   GenBank (35)   
   EMBL (35)   
3D Structure (2)   
   PDB (2)   
Protein domain (6)   
   Pfam (6)   
All databases (123)   

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