Homo sapiens (human): 341208 Help 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) BRITE hierarchy SSDB OrthologParalogGFIT Motif Pfam:  Cu-oxidase_3 Cu-oxidase_2 Motif Other DBs NCBI-GeneID:  341208 NCBI-ProteinID:  NP_001092142 OMIM:  618455 HGNC:  30477 Ensembl:  ENSG00000181333 Vega:  OTTHUMG00000167751 Pharos:  Q6MZM0(Tbio) UniProt:  Q6MZM0 LinkDB All DBs Position 11q21 AA seq 1159 aa AA seqDB search MPRKQPAGCIFLLTFLGLSGLVGTVTRTYYIGIVEEYWNYVPQGKNVITGKSFTEDKLAT LFLERGPNRIGSIYKKAVYRRFTDGTYSIEIPKPPWLGFLGPILRAEVGDVIVIHLKNFA SRPYSLHPHGVFYNKDSEGALYPDGTSGRNKNDDMVPPGKNYTYVWPVREEYAPTPADAN CLTWVYHSHIDAPKDICSGLIGPLLVCKEGILNRYSGTRNDVDREFVIMFTLVDENQSWY LNENIKHFCTNPDSVDKKDAVFQRSNKMHALNGYLFGNFPEPDMCVGESVSWHLFGMGNE IDIHSIYFYGNTFISRGHRTDVVNLFPATFLTTEMIAENPGKWMITCQVSDHLQAGMLGQ YNVDNCKSDIFYPKMKGQQRRYFIAAEKILWDYAPQGYNKFSGLPLNASGSDSDLYFTQG DNRIGGKYWKVRYTEFVDATFTKRKRLSAEEAHLGILGPVIKAEVGDTLLVTFANKADKV YSILPHGVIYDKASDAAPNLDGFVKPGAHVKPGETFTYKWTVPESVSPTAGDPPCLTYLY FSAVDPIKDTSSGLVGPLLVCKKGVLNADGTQKGIDKEFYLLFTVFDENLSRYFDENIQK FIWHPFSIDKEDKEFVKSNRMHAVNGYMYGNQPGLNMCKRDRVSWHLIGLGTDTDMHGIV FQGNTIHLRGTHRDSLALFPHMATTAFMQPDHAGIFRVFCATMPHLSRGMGQIYEVSSCD NRDPSEQRYGMIRTFYIAAEEVEWDYAPNKNWEFEKQHVDARGERHGDIFMNRTENWIGS QYKKVVYREYTDGEFVEIKARPPREEHLELLGPMIHAEVGNTVLIIFKNKASRPYSISAQ GVEEMDSGKQFQVPMTKPGEVKTYRWNIPKRSGPGPSDPNCIPWVYYSTVNFVKDTYSGL MGPLITCRKGVLNEKGRRSDVDYEFALLFLVFNENESWYLDDNIKKYLNKDPRDFKRTDD FEESNRMHAINGKIFGNLHGLIMNEDTMTNWYLLGIGSEVDIHTIHYHAESFLFKIDKSY REDVYDLFPGTFQTIELFADHPGTWLLHCHVSDHIHAGMETTYTVLRNIDNRIPYSTTSP GVASHPATVPSNERPGKEQLYFFGKNLGPTGAKAALVILFIIGLLLLITTVILSLRLCSA MKQTDYQQVQSCALPTDAL NT seq 3480 nt NT seq  +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

Homo sapiens (human): 9843 Help 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) BRITE hierarchy SSDB OrthologParalogGFIT Motif Pfam:  Cu-oxidase_3 Cu-oxidase_2 FtsL Motif Other DBs NCBI-GeneID:  9843 NCBI-ProteinID:  NP_001124332 OMIM:  300167 HGNC:  4866 Ensembl:  ENSG00000089472 Vega:  OTTHUMG00000021732 Pharos:  Q9BQS7(Tbio) UniProt:  Q9BQS7 A0A0C4DG76 LinkDB All DBs Position Xq12 AA seq 1157 aa AA seqDB search MESGHLLWALLFMQSLWPQLTDGATRVYYLGIRDVQWNYAPKGRNVITNQPLDSDIVASS FLKSDKNRIGGTYKKTIYKEYKDDSYTDEVAQPAWLGFLGPVLQAEVGDVILIHLKNFAT RPYTIHPHGVFYEKDSEGSLYPDGSSGPLKADDSVPPGGSHIYNWTIPEGHAPTDADPAC LTWIYHSHVDAPRDIATGLIGPLITCKRGALDGNSPPQRQDVDHDFFLLFSVVDENLSWH LNENIATYCSDPASVDKEDETFQESNRMHAINGFVFGNLPELNMCAQKRVAWHLFGMGNE IDVHTAFFHGQMLTTRGHHTDVANIFPATFVTAEMVPWEPGTWLISCQVNSHFRDGMQAL YKVKSCSMAPPVDLLTGKVRQYFIEAHEIQWDYGPMGHDGSTGKNLREPGSISDKFFQKS SSRIGGTYWKVRYEAFQDETFQEKMHLEEDRHLGILGPVIRAEVGDTIQVVFYNRASQPF SMQPHGVFYEKDYEGTVYNDGSSYPGLVAKPFEKVTYRWTVPPHAGPTAQDPACLTWMYF SAADPIRDTNSGLVGPLLVCRAGALGADGKQKGVDKEFFLLFTVLDENKSWYSNANQAAA MLDFRLLSEDIEGFQDSNRMHAINGFLFSNLPRLDMCKGDTVAWHLLGLGTETDVHGVMF QGNTVQLQGMRKGAAMLFPHTFVMAIMQPDNLGTFEIYCQAGSHREAGMRAIYNVSQCPG HQATPRQRYQAARIYYIMAEEVEWDYCPDRSWEREWHNQSEKDSYGYIFLSNKDGLLGSR YKKAVFREYTDGTFRIPRPRTGPEEHLGILGPLIKGEVGDILTVVFKNNASRPYSVHAHG VLESTTVWPLAAEPGEVVTYQWNIPERSGPGPNDSACVSWIYYSAVDPIKDMYSGLVGPL AICQKGILEPHGGRSDMDREFALLFLIFDENKSWYLEENVATHGSQDPGSINLQDETFLE SNKMHAINGKLYANLRGLTMYQGERVAWYMLAMGQDVDLHTIHFHAESFLYRNGENYRAD VVDLFPGTFEVVEMVASNPGTWLMHCHVTDHVHAGMETLFTVFSRTEHLSPLTVITKETE KVPPRDIEEGNVKMLGMQIPIKNVEMLASVLVAISVTLLLVVLALGGVVWYQHRQRKLRR NRRSILDDSFKLLSFKQ NT seq 3474 nt NT seq  +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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