KEGG   Homo sapiens (human): 9843
Entry
9843              CDS       T01001                                 
Symbol
HEPH, CPL
Name
(RefSeq) hephaestin
  KO
K14735  hephaestin [EC:1.16.3.1]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00860  Porphyrin metabolism
hsa04978  Mineral absorption
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00860 Porphyrin metabolism
    9843 (HEPH)
 09150 Organismal Systems
  09154 Digestive system
   04978 Mineral absorption
    9843 (HEPH)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.16  Oxidizing metal ions
   1.16.3  With oxygen as acceptor
    1.16.3.1  ferroxidase
     9843 (HEPH)
SSDB
Motif
Pfam: Cu-oxidase_2 Cu-oxidase_3
Other DBs
NCBI-GeneID: 9843
NCBI-ProteinID: NP_620074
OMIM: 300167
HGNC: 4866
Ensembl: ENSG00000089472
UniProt: Q9BQS7 Q1HE23
Position
X:66162671..66268863
AA seq 1158 aa
MESGHLLWALLFMQSLWPQLTDGATRVYYLGIRDVQWNYAPKGRNVITNQPLDSDIVASS
FLKSDKNRIGGTYKKTIYKEYKDDSYTDEVAQPAWLGFLGPVLQAEVGDVILIHLKNFAT
RPYTIHPHGVFYEKDSEGSLYPDGSSGPLKADDSVPPGGSHIYNWTIPEGHAPTDADPAC
LTWIYHSHVDAPRDIATGLIGPLITCKRGALDGNSPPQRQDVDHDFFLLFSVVDENLSWH
LNENIATYCSDPASVDKEDETFQESNRMHAINGFVFGNLPELNMCAQKRVAWHLFGMGNE
IDVHTAFFHGQMLTTRGHHTDVANIFPATFVTAEMVPWEPGTWLISCQVNSHFRDGMQAL
YKVKSCSMAPPVDLLTGKVRQYFIEAHEIQWDYGPMGHDGSTGKNLREPGSISDKFFQKS
SSRIGGTYWKVRYEAFQDETFQEKMHLEEDRHLGILGPVIRAEVGDTIQVVFYNRASQPF
SMQPHGVFYEKDYEGTVYNDGSSYPGLVAKPFEKVTYRWTVPPHAGPTAQDPACLTWMYF
SAADPIRDTNSGLVGPLLVCRAGALGADGKQKGVDKEFFLLFTVLDENKSWYSNANQAAA
MLDFRLLSEDIEGFQDSNRMHAINGFLFSNLPRLDMCKGDTVAWHLLGLGTETDVHGVMF
QGNTVQLQGMRKGAAMLFPHTFVMAIMQPDNLGTFEIYCQAGSHREAGMRAIYNVSQCPG
HQATPRQRYQAARIYYIMAEEVEWDYCPDRSWEREWHNQSEKDSYGYIFLSNKDGLLGSR
YKKAVFREYTDGTFRIPRPRTGPEEHLGILGPLIKGEVGDILTVVFKNNASRPYSVHAHG
VLESTTVWPLAAEPGEVVTYQWNIPERSGPGPNDSACVSWIYYSAVDPIKDMYSGLVGPL
AICQKGILEPHGGRSDMDREFALLFLIFDENKSWYLEENVATHGSQDPGSINLQDETFLE
SNKMHAINGKLYANLRGLTMYQGERVAWYMLAMGQDVDLHTIHFHAESFLYRNGENYRAD
VVDLFPGTFEVVEMVASNPGTWLMHCHVTDHVHAGMETLFTVFSRTEHLSPLTVITKETE
KAVPPRDIEEGNVKMLGMQIPIKNVEMLASVLVAISVTLLLVVLALGGVVWYQHRQRKLR
RNRRSILDDSFKLLSFKQ
NT seq 3477 nt   +upstreamnt  +downstreamnt
atggagtcaggccacctcctctgggctctgctgttcatgcagtccttgtggcctcaactg
actgatggagccactcgagtctactacctgggcatccgggatgtgcagtggaactatgct
cccaagggaagaaatgtcatcacgaaccagcctctggacagtgacatagtggcttccagc
ttcttaaagtctgacaagaaccggatagggggaacctacaagaagaccatctataaagaa
tacaaggatgactcatacacagatgaagtggcccagcctgcctggttgggcttcctgggg
ccagtgttgcaggctgaagtgggggatgtcattcttattcacctgaagaattttgccact
cgtccctataccatccaccctcatggtgtcttctacgagaaggactctgaaggttcccta
tacccagatggctcctctgggccactgaaagctgatgactctgttcccccggggggcagc
catatctacaactggaccattccagaaggccatgcacccaccgatgctgacccagcgtgc
ctcacctggatctaccattctcatgtagatgctccacgagacattgcaactggcctaatt
gggcctctcatcacctgtaaaagaggagccctggatgggaactcccctcctcaacgccag
gatgtagaccatgatttcttcctcctcttcagtgtggtagatgagaacctcagctggcat
ctcaatgagaacattgccacttactgctcagatcctgcttcagtggacaaagaagatgag
acatttcaggagagcaataggatgcatgcaatcaatggctttgtttttgggaatttacct
gagctgaacatgtgtgcacagaaacgtgtggcctggcacttgtttggcatgggcaatgaa
attgatgtccacacagcatttttccatggacagatgctgactacccgtggacaccacact
gatgtggctaacatctttccagccacctttgtgactgctgagatggtgccctgggaacct
ggtacctggttaattagctgccaagtgaacagtcactttcgagatggcatgcaggcactc
tacaaggtcaagtcttgctccatggcccctcctgtggacctgctcacaggcaaagttcga
cagtacttcattgaggcccatgagattcaatgggactatggcccgatggggcatgatggg
agtactgggaagaatttgagagagccaggcagtatctcagataagtttttccagaagagc
tccagccgaattgggggcacttactggaaagtgcgatatgaagcctttcaagatgagaca
ttccaagagaagatgcatttggaggaagataggcatcttggaatcctggggccagtgatc
cgggctgaggtgggtgacaccattcaggtggtcttctacaaccgtgcctcccagccattc
agcatgcagccccatggggtcttttatgagaaagactatgaaggcactgtgtacaatgat
ggctcatcttaccctggcttggttgccaagccctttgagaaagtaacataccgctggaca
gtcccccctcatgccggtcccactgctcaggatcctgcttgtctcacttggatgtacttc
tctgctgcagatcccataagagacacaaattctggcctggtgggcccgctgctggtgtgc
agggctggtgccttgggtgcagatggcaagcagaaaggggtggataaagaattctttctt
ctcttcactgtgttggatgagaacaagagctggtacagcaatgccaatcaagcagctgct
atgttggatttccgactgctttcagaggatattgagggcttccaagactccaatcggatg
catgccattaatgggtttctgttctctaacctgcccaggctggacatgtgcaagggtgac
acagtggcctggcacctgctcggcctgggcacagagactgatgtgcatggagtcatgttc
cagggcaacactgtgcagcttcagggcatgaggaagggtgcagctatgctctttcctcat
acctttgtcatggccatcatgcagcctgacaaccttgggacatttgagatttattgccag
gcaggcagccatcgagaagcagggatgagggcaatctataatgtctcccagtgtcctggc
caccaagccacccctcgccaacgctaccaagctgcaagaatctactatatcatggcagaa
gaagtagagtgggactattgccctgaccggagctgggaacgggaatggcacaaccagtct
gagaaggacagttatggttacattttcctgagcaacaaggatgggctcctgggttccaga
tacaagaaagctgtattcagggaatacactgatggtacattcaggatccctcggccaagg
actggaccagaagaacacttgggaatcttgggtccacttatcaaaggtgaagttggtgat
atcctgactgtggtattcaagaataatgccagccgcccctactctgtgcatgctcatgga
gtgctagaatctactactgtctggccactggctgctgagcctggtgaggtggtcacttat
cagtggaacatcccagagaggtctggccctgggcccaatgactctgcttgtgtttcctgg
atctattattctgcagtggatcccatcaaggacatgtatagtggcctggtggggcccttg
gctatctgccaaaagggcatcctggagccccatggaggacggagtgacatggatcgggaa
tttgcattgttgttcttgatttttgatgaaaataagtcttggtatttggaggaaaatgtg
gcaacccatgggtcccaggatccaggcagtattaacctacaggatgaaactttcttggag
agcaataaaatgcatgcaatcaatgggaaactctatgccaaccttaggggtcttaccatg
taccaaggagaacgagtggcctggtacatgctggccatgggccaagatgtggatctacac
accatccactttcatgcagagagcttcctctatcggaatggcgagaactaccgggcagat
gtggtggatctgttcccagggacttttgaggttgtggagatggtggccagcaaccctggg
acatggctgatgcactgccatgtgactgaccatgtccatgctggcatggagaccctcttc
actgttttttctcgaacagaacacttaagccctctcaccgtcatcaccaaagagactgaa
aaagcagtgccccccagagacattgaagaaggcaatgtgaagatgctgggcatgcagatc
cccataaagaatgttgagatgctggcctctgttttggttgccattagtgtcacccttctg
ctcgttgttctggctcttggtggagtggtttggtaccaacatcgacagagaaagctacga
cgcaataggaggtccatcctggatgacagcttcaagcttctgtctttcaaacagtaa

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (1)   
   OMIM (1)   
Chemical substance (5)   
   KEGG COMPOUND (5)   
Chemical reaction (2)   
   KEGG ENZYME (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (19)   
   KEGG ORTHOLOGY (1)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (9)   
   OC (1)   
Protein sequence (35)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (32)   
DNA sequence (63)   
   RefSeq(nuc) (35)   
   GenBank (14)   
   EMBL (14)   
Protein domain (2)   
   Pfam (2)   
All databases (132)   

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