KEGG   Homo sapiens (human): 341208
Entry
341208            CDS       T01001                                 

Gene name
HEPHL1, HJDD, ZP
Definition
(RefSeq) hephaestin like 1
  KO
K14735  hephaestin [EC:1.16.3.1]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00860  Porphyrin and chlorophyll metabolism
hsa04978  Mineral absorption
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00860 Porphyrin and chlorophyll metabolism
    341208 (HEPHL1)
 09150 Organismal Systems
  09154 Digestive system
   04978 Mineral absorption
    341208 (HEPHL1)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.16  Oxidizing metal ions
   1.16.3  With oxygen as acceptor
    1.16.3.1  ferroxidase
     341208 (HEPHL1)
SSDB
Motif
Pfam: Cu-oxidase_3 Cu-oxidase_2
Other DBs
NCBI-GeneID: 341208
NCBI-ProteinID: NP_001092142
OMIM: 618455
HGNC: 30477
Ensembl: ENSG00000181333
Vega: OTTHUMG00000167751
Pharos: Q6MZM0(Tbio)
UniProt: Q6MZM0
LinkDB
Position
11q21
AA seq 1159 aa
MPRKQPAGCIFLLTFLGLSGLVGTVTRTYYIGIVEEYWNYVPQGKNVITGKSFTEDKLAT
LFLERGPNRIGSIYKKAVYRRFTDGTYSIEIPKPPWLGFLGPILRAEVGDVIVIHLKNFA
SRPYSLHPHGVFYNKDSEGALYPDGTSGRNKNDDMVPPGKNYTYVWPVREEYAPTPADAN
CLTWVYHSHIDAPKDICSGLIGPLLVCKEGILNRYSGTRNDVDREFVIMFTLVDENQSWY
LNENIKHFCTNPDSVDKKDAVFQRSNKMHALNGYLFGNFPEPDMCVGESVSWHLFGMGNE
IDIHSIYFYGNTFISRGHRTDVVNLFPATFLTTEMIAENPGKWMITCQVSDHLQAGMLGQ
YNVDNCKSDIFYPKMKGQQRRYFIAAEKILWDYAPQGYNKFSGLPLNASGSDSDLYFTQG
DNRIGGKYWKVRYTEFVDATFTKRKRLSAEEAHLGILGPVIKAEVGDTLLVTFANKADKV
YSILPHGVIYDKASDAAPNLDGFVKPGAHVKPGETFTYKWTVPESVSPTAGDPPCLTYLY
FSAVDPIKDTSSGLVGPLLVCKKGVLNADGTQKGIDKEFYLLFTVFDENLSRYFDENIQK
FIWHPFSIDKEDKEFVKSNRMHAVNGYMYGNQPGLNMCKRDRVSWHLIGLGTDTDMHGIV
FQGNTIHLRGTHRDSLALFPHMATTAFMQPDHAGIFRVFCATMPHLSRGMGQIYEVSSCD
NRDPSEQRYGMIRTFYIAAEEVEWDYAPNKNWEFEKQHVDARGERHGDIFMNRTENWIGS
QYKKVVYREYTDGEFVEIKARPPREEHLELLGPMIHAEVGNTVLIIFKNKASRPYSISAQ
GVEEMDSGKQFQVPMTKPGEVKTYRWNIPKRSGPGPSDPNCIPWVYYSTVNFVKDTYSGL
MGPLITCRKGVLNEKGRRSDVDYEFALLFLVFNENESWYLDDNIKKYLNKDPRDFKRTDD
FEESNRMHAINGKIFGNLHGLIMNEDTMTNWYLLGIGSEVDIHTIHYHAESFLFKIDKSY
REDVYDLFPGTFQTIELFADHPGTWLLHCHVSDHIHAGMETTYTVLRNIDNRIPYSTTSP
GVASHPATVPSNERPGKEQLYFFGKNLGPTGAKAALVILFIIGLLLLITTVILSLRLCSA
MKQTDYQQVQSCALPTDAL
NT seq 3480 nt   +upstreamnt  +downstreamnt
atgcctcggaagcagccagctggctgcatctttctcctcacattcctgggtctgtctggg
ctggttggcacagttaccagaacgtactacattgggattgtggaagaatactggaactat
gtaccccaagggaagaatgttattactgggaaaagtttcacagaagacaaacttgcaacc
ttatttctcgaaagagggcccaacaggataggcagtatttacaaaaaggctgtttacaga
cgcttcacggatggaacctactccatagagatccccaaacctccctggcttggattcctg
ggccccatcttgagggccgaagtgggtgatgtgattgtcattcatttaaagaactttgct
tctcgaccttactctctgcatccacatggcgttttctacaacaaagattcagaaggagcc
ctatacccagatggaacatctggaaggaacaaaaatgatgacatggttcctcctgggaaa
aactacacctacgtctggccggtgagagaagaatatgcacctactccagccgatgccaac
tgcctgacctgggtgtaccattcgcacatcgacgccccaaaggacatctgctctgggcta
attgggcccctgctggtctgcaaggaaggtatcctgaatagatattcagggacacggaat
gatgtggatcgagagtttgttataatgtttactcttgtggatgagaatcaaagctggtac
ctcaatgaaaatatcaaacatttctgcaccaaccctgattcagttgacaagaaagatgct
gttttccagaggagtaacaaaatgcatgccctcaatggatacctcttcggaaacttcccg
gagcctgatatgtgtgttggagaatctgtgtcctggcacctatttggaatggggaatgaa
atagacatccattctatctatttctatggtaacaccttcatcagcagagggcatcggact
gatgtcgtcaacctgttcccagccaccttccttacaacagaaatgatagccgagaatcct
gggaagtggatgataacctgccaggtcagcgaccacctacaagctggtatgctggggcaa
tacaatgttgataactgcaaaagtgatattttctaccccaagatgaagggtcaacagagg
cgctactttatagcagctgaaaaaattctttgggattatgctcctcaaggctataacaaa
ttcagtggtcttcctctaaacgcctctggcagtgactctgatctctacttcacacaaggg
gacaacagaataggaggaaaatactggaaggttcggtatactgaatttgttgatgcaact
tttactaaaagaaagagactctctgctgaagaagcccatcttggaattcttggcccagtc
atcaaggcagaggtgggtgataccctgttagtgacctttgccaacaaagccgacaaggtc
tatagcattttaccccatggtgtgatctatgacaaggcatctgatgcagccccaaaccta
gatggatttgtgaaaccaggggcgcatgttaaaccaggtgaaaccttcacatacaagtgg
acagtgcctgagagcgtaagcccaactgctggtgatcctccctgtctgacctatctttac
ttctcagcagttgatccaattaaggacaccagctctggcctggtagggcctttgctagtc
tgtaaaaagggcgtcctcaatgctgatgggacacagaaaggaatagacaaggagttttac
ctactgttcacagtctttgatgagaatctgagcagatattttgatgaaaacattcagaag
tttatctggcatcccttcagcattgacaaagaagataaagagtttgtgaaatccaaccga
atgcatgctgttaacggctacatgtatggcaaccagccaggcttaaacatgtgtaaaagg
gatagagtttcctggcatctgattggattgggcactgacactgacatgcatggaattgtt
tttcaagggaacaccatccacctacgagggactcaccgagactccctggccctgtttccc
cacatggccacaacagcattcatgcagccagaccatgcaggtatttttagggtgttttgt
gccaccatgccccacctctcgagaggcatgggtcagatctatgaggtcagcagctgtgac
aacagggacccttctgagcagcggtacgggatgataagaactttttacatcgccgctgaa
gaagtagaatgggattatgcccctaacaaaaactgggagttcgaaaagcagcacgtggac
gcaagaggggaaagacatggagatatatttatgaaccgcactgaaaattggattggctct
cagtacaagaaggtggtttacagggaatatacggatggagaatttgtggagatcaaagcc
cgaccaccacgagaggagcacttagaactcctgggcccaatgattcatgctgaggtgggc
aacaccgtcctgatcatatttaagaacaaagccagtaggccctactccatctcagcccag
ggtgtggaggagatggatagtggaaagcaattccaagtgcccatgacaaaaccaggagaa
gtaaaaacttatagatggaatatccctaaaagatccggtccagggccttctgatcccaat
tgtattccatgggtttactattcaacagtaaactttgtgaaggatacgtatagtggtttg
atgggtcctctgattacatgccgaaaaggagtcttgaatgaaaagggaagaagaagtgac
gttgattatgaatttgctctcttgtttttggtatttaatgagaatgaatcctggtatctg
gatgacaatattaagaagtatctcaacaaagatccacgagattttaagcgcactgatgat
tttgaggaaagcaacagaatgcatgccattaatggaaagatttttgggaatctccatggc
ctcataatgaacgaagatacaatgacaaactggtatttgttagggataggaagtgaagtg
gacatacataccatccattatcatgctgagagctttcttttcaaaatagataaatcttac
cgagaagatgtgtatgatctctttcctgggacattccaaaccattgaactgtttgcagat
cacccagggacatggctgctacactgtcatgtgtctgaccacatccatgctggcatggag
acaacctacacggtccttcgtaacatagacaacaggattccttactccaccacatctcct
ggagtggcatctcacccagccacggtgccatctaacgaacgacctggcaaagagcagctc
tatttctttggcaagaatctgggtccaacaggagccaaggcagccttggtcatccttttc
atcattggactcctccttctaatcaccacggtgattctctccctcagactctgctctgca
atgaagcagacagattaccagcaagtccagtcctgtgctctccccacggatgctctgtga

KEGG   Homo sapiens (human): 9843
Entry
9843              CDS       T01001                                 

Gene name
HEPH, CPL
Definition
(RefSeq) hephaestin
  KO
K14735  hephaestin [EC:1.16.3.1]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00860  Porphyrin and chlorophyll metabolism
hsa04978  Mineral absorption
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00860 Porphyrin and chlorophyll 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_3 Cu-oxidase_2 FtsL
Other DBs
NCBI-GeneID: 9843
NCBI-ProteinID: NP_001124332
OMIM: 300167
HGNC: 4866
Ensembl: ENSG00000089472
Vega: OTTHUMG00000021732
Pharos: Q9BQS7(Tbio)
UniProt: Q9BQS7 A0A0C4DG76
LinkDB
Position
Xq12
AA seq 1157 aa
MESGHLLWALLFMQSLWPQLTDGATRVYYLGIRDVQWNYAPKGRNVITNQPLDSDIVASS
FLKSDKNRIGGTYKKTIYKEYKDDSYTDEVAQPAWLGFLGPVLQAEVGDVILIHLKNFAT
RPYTIHPHGVFYEKDSEGSLYPDGSSGPLKADDSVPPGGSHIYNWTIPEGHAPTDADPAC
LTWIYHSHVDAPRDIATGLIGPLITCKRGALDGNSPPQRQDVDHDFFLLFSVVDENLSWH
LNENIATYCSDPASVDKEDETFQESNRMHAINGFVFGNLPELNMCAQKRVAWHLFGMGNE
IDVHTAFFHGQMLTTRGHHTDVANIFPATFVTAEMVPWEPGTWLISCQVNSHFRDGMQAL
YKVKSCSMAPPVDLLTGKVRQYFIEAHEIQWDYGPMGHDGSTGKNLREPGSISDKFFQKS
SSRIGGTYWKVRYEAFQDETFQEKMHLEEDRHLGILGPVIRAEVGDTIQVVFYNRASQPF
SMQPHGVFYEKDYEGTVYNDGSSYPGLVAKPFEKVTYRWTVPPHAGPTAQDPACLTWMYF
SAADPIRDTNSGLVGPLLVCRAGALGADGKQKGVDKEFFLLFTVLDENKSWYSNANQAAA
MLDFRLLSEDIEGFQDSNRMHAINGFLFSNLPRLDMCKGDTVAWHLLGLGTETDVHGVMF
QGNTVQLQGMRKGAAMLFPHTFVMAIMQPDNLGTFEIYCQAGSHREAGMRAIYNVSQCPG
HQATPRQRYQAARIYYIMAEEVEWDYCPDRSWEREWHNQSEKDSYGYIFLSNKDGLLGSR
YKKAVFREYTDGTFRIPRPRTGPEEHLGILGPLIKGEVGDILTVVFKNNASRPYSVHAHG
VLESTTVWPLAAEPGEVVTYQWNIPERSGPGPNDSACVSWIYYSAVDPIKDMYSGLVGPL
AICQKGILEPHGGRSDMDREFALLFLIFDENKSWYLEENVATHGSQDPGSINLQDETFLE
SNKMHAINGKLYANLRGLTMYQGERVAWYMLAMGQDVDLHTIHFHAESFLYRNGENYRAD
VVDLFPGTFEVVEMVASNPGTWLMHCHVTDHVHAGMETLFTVFSRTEHLSPLTVITKETE
KVPPRDIEEGNVKMLGMQIPIKNVEMLASVLVAISVTLLLVVLALGGVVWYQHRQRKLRR
NRRSILDDSFKLLSFKQ
NT seq 3474 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
aaagtgccccccagagacattgaagaaggcaatgtgaagatgctgggcatgcagatcccc
ataaagaatgttgagatgctggcctctgttttggttgccattagtgtcacccttctgctc
gttgttctggctcttggtggagtggtttggtaccaacatcgacagagaaagctacgacgc
aataggaggtccatcctggatgacagcttcaagcttctgtctttcaaacagtaa

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