Homo sapiens (human): 341208 Help Entry 341208            CDS       T01001                                  Symbol HEPHL1, HJDD, ZP Name (RefSeq) hephaestin like 1   KO K14735   hephaestin [EC:1.16.3.1] Organism hsa  Homo sapiens (human) Pathway hsa00860   Porphyrin metabolism hsa04081   Hormone signaling hsa04978   Mineral absorption Disease H02824   Abnormal hair, joint laxity, and developmental delay Brite KEGG Orthology (KO) [BR:hsa00001]  09100 Metabolism   09108 Metabolism of cofactors and vitamins    00860 Porphyrin metabolism     341208 (HEPHL1)  09130 Environmental Information Processing   09133 Signaling molecules and interaction    04081 Hormone signaling     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 OrthologParalogGene clusterGFIT Motif Pfam:  Cu-oxidase_3 Cu-oxidase_2 Motif Other DBs NCBI-GeneID:  341208 NCBI-ProteinID:  NP_001092142 OMIM:  618455 HGNC:  30477 Ensembl:  ENSG00000181333 UniProt:  Q6MZM0 LinkDB All DBs Position 11:94021354..94114208 Genome browser 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                                  Symbol HEPH, CPL, Hp Name (RefSeq) hephaestin   KO K14735   hephaestin [EC:1.16.3.1] Organism hsa  Homo sapiens (human) Pathway hsa00860   Porphyrin metabolism hsa04081   Hormone signaling hsa04978   Mineral absorption Brite KEGG Orthology (KO) [BR:hsa00001]  09100 Metabolism   09108 Metabolism of cofactors and vitamins    00860 Porphyrin metabolism     9843 (HEPH)  09130 Environmental Information Processing   09133 Signaling molecules and interaction    04081 Hormone signaling     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 OrthologParalogGene clusterGFIT Motif Pfam:  Cu-oxidase_3 Cu-oxidase_2 Motif Other DBs NCBI-GeneID:  9843 NCBI-ProteinID:  NP_620074 OMIM:  300167 HGNC:  4866 Ensembl:  ENSG00000089472 UniProt:  Q9BQS7 Q1HE23 LinkDB All DBs Position X:66162671..66268863 Genome browser AA seq 1158 aa AA seqDB search MESGHLLWALLFMQSLWPQLTDGATRVYYLGIRDVQWNYAPKGRNVITNQPLDSDIVASS FLKSDKNRIGGTYKKTIYKEYKDDSYTDEVAQPAWLGFLGPVLQAEVGDVILIHLKNFAT RPYTIHPHGVFYEKDSEGSLYPDGSSGPLKADDSVPPGGSHIYNWTIPEGHAPTDADPAC LTWIYHSHVDAPRDIATGLIGPLITCKRGALDGNSPPQRQDVDHDFFLLFSVVDENLSWH LNENIATYCSDPASVDKEDETFQESNRMHAINGFVFGNLPELNMCAQKRVAWHLFGMGNE IDVHTAFFHGQMLTTRGHHTDVANIFPATFVTAEMVPWEPGTWLISCQVNSHFRDGMQAL YKVKSCSMAPPVDLLTGKVRQYFIEAHEIQWDYGPMGHDGSTGKNLREPGSISDKFFQKS SSRIGGTYWKVRYEAFQDETFQEKMHLEEDRHLGILGPVIRAEVGDTIQVVFYNRASQPF SMQPHGVFYEKDYEGTVYNDGSSYPGLVAKPFEKVTYRWTVPPHAGPTAQDPACLTWMYF SAADPIRDTNSGLVGPLLVCRAGALGADGKQKGVDKEFFLLFTVLDENKSWYSNANQAAA MLDFRLLSEDIEGFQDSNRMHAINGFLFSNLPRLDMCKGDTVAWHLLGLGTETDVHGVMF QGNTVQLQGMRKGAAMLFPHTFVMAIMQPDNLGTFEIYCQAGSHREAGMRAIYNVSQCPG HQATPRQRYQAARIYYIMAEEVEWDYCPDRSWEREWHNQSEKDSYGYIFLSNKDGLLGSR YKKAVFREYTDGTFRIPRPRTGPEEHLGILGPLIKGEVGDILTVVFKNNASRPYSVHAHG VLESTTVWPLAAEPGEVVTYQWNIPERSGPGPNDSACVSWIYYSAVDPIKDMYSGLVGPL AICQKGILEPHGGRSDMDREFALLFLIFDENKSWYLEENVATHGSQDPGSINLQDETFLE SNKMHAINGKLYANLRGLTMYQGERVAWYMLAMGQDVDLHTIHFHAESFLYRNGENYRAD VVDLFPGTFEVVEMVASNPGTWLMHCHVTDHVHAGMETLFTVFSRTEHLSPLTVITKETE KAVPPRDIEEGNVKMLGMQIPIKNVEMLASVLVAISVTLLLVVLALGGVVWYQHRQRKLR RNRRSILDDSFKLLSFKQ NT seq 3477 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 aaagcagtgccccccagagacattgaagaaggcaatgtgaagatgctgggcatgcagatc cccataaagaatgttgagatgctggcctctgttttggttgccattagtgtcacccttctg ctcgttgttctggctcttggtggagtggtttggtaccaacatcgacagagaaagctacga cgcaataggaggtccatcctggatgacagcttcaagcttctgtctttcaaacagtaa

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