KEGG   Homo sapiens (human): 3077
Entry
3077              CDS       T01001                                 

Gene name
HFE, HFE1, HH, HLA-H, MVCD7, TFQTL2
Definition
(RefSeq) homeostatic iron regulator
Organism
hsa  Homo sapiens (human)
Disease
H00211  Hemochromatosis
SSDB
Motif
Pfam: MHC_I C1-set MHC_I_3 Ig_3 Ig_2 Insulin_TMD Orf78 ig SKG6
Other DBs
NCBI-GeneID: 3077
NCBI-ProteinID: NP_000401
OMIM: 613609
HGNC: 4886
Ensembl: ENSG00000010704
Vega: OTTHUMG00000016348
Pharos: Q30201(Tbio)
UniProt: Q30201
Structure
PDB: 
1A6Z 1DE4

Position
6p22.2
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 (8)   
   KEGG DISEASE (1)   
   OMIM (7)   
Genome (1)   
   KEGG GENOME (1)   
Gene (13)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (14)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (12)   
DNA sequence (85)   
   RefSeq(nuc) (15)   
   GenBank (35)   
   EMBL (35)   
Protein domain (9)   
   Pfam (9)   
All databases (130)   

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