LOCUS       NM_001098672            5809 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens hephaestin like 1 (HEPHL1), mRNA.
ACCESSION   NM_001098672 XM_291947 XM_936724
VERSION     NM_001098672.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5809)
  AUTHORS   Helman,S.L., Wilkins,S.J., McKeating,D.R., Perkins,A.V.,
            Whibley,P.E., Cuffe,J.S.M., Simmons,D.G., Fuqua,B.K., Vulpe,C.D.,
            Wallace,D.F., O'Callaghan,J.L., Pelzer,E.S., Anderson,G.J. and
            Frazer,D.M.
  TITLE     The Placental Ferroxidase Zyklopen Is Not Essential for Iron
            Transport to the Fetus in Mice
  JOURNAL   J Nutr 151 (9), 2541-2550 (2021)
   PUBMED   34114013
REFERENCE   2  (bases 1 to 5809)
  AUTHORS   Sharma,P., Reichert,M., Lu,Y., Markello,T.C., Adams,D.R.,
            Steinbach,P.J., Fuqua,B.K., Parisi,X., Kaler,S.G., Vulpe,C.D.,
            Anderson,G.J., Gahl,W.A. and Malicdan,M.C.V.
  TITLE     Biallelic HEPHL1 variants impair ferroxidase activity and cause an
            abnormal hair phenotype
  JOURNAL   PLoS Genet 15 (5), e1008143 (2019)
   PUBMED   31125343
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5809)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   4  (bases 1 to 5809)
  AUTHORS   Chen,H., Attieh,Z.K., Syed,B.A., Kuo,Y.M., Stevens,V., Fuqua,B.K.,
            Andersen,H.S., Naylor,C.E., Evans,R.W., Gambling,L., Danzeisen,R.,
            Bacouri-Haidar,M., Usta,J., Vulpe,C.D. and McArdle,H.J.
  TITLE     Identification of zyklopen, a new member of the vertebrate
            multicopper ferroxidase family, and characterization in rodents and
            human cells
  JOURNAL   J Nutr 140 (10), 1728-1735 (2010)
   PUBMED   20685892
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP002795.3, EG328157.1, AP003966.2 and BX641008.1.
            
            On May 17, 2019 this sequence version replaced NM_001098672.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2147975,
                              SAMEA2158800 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000315765.10/ ENSP00000313699.9
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-185               AP002795.3         104942-105126
            186-430             AP002795.3         129261-129505
            431-643             AP002795.3         147096-147308
            644-823             AP002795.3         147919-148098
            824-1078            AP002795.3         151084-151338
            1079-1387           EG328157.1         117-425             c
            1388-1519           AP002795.3         156896-157027
            1520-1731           AP002795.3         158762-158973
            1732-1882           AP003966.2         3586-3736
            1883-2095           AP003966.2         7145-7357
            2096-2309           AP003966.2         9923-10136
            2310-3292           BX641008.1         207-1189
            3293-5809           AP003966.2         32860-35376
FEATURES             Location/Qualifiers
     source          1..5809
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q21"
     gene            1..5809
                     /gene="HEPHL1"
                     /gene_synonym="HJDD; ZP"
                     /note="hephaestin like 1"
                     /db_xref="GeneID:341208"
                     /db_xref="HGNC:HGNC:30477"
                     /db_xref="MIM:618455"
     exon            1..185
                     /gene="HEPHL1"
                     /gene_synonym="HJDD; ZP"
                     /inference="alignment:Splign:2.1.0"
     CDS             16..3495
                     /gene="HEPHL1"
                     /gene_synonym="HJDD; ZP"
                     /EC_number="1.16.3.1"
                     /note="hephaestin-like protein 1; ferroxidase HEPHL1;
                     zyklopen"
                     /codon_start=1
                     /product="ferroxidase HEPHL1 precursor"
                     /protein_id="NP_001092142.1"
                     /db_xref="CCDS:CCDS44710.1"
                     /db_xref="GeneID:341208"
                     /db_xref="HGNC:HGNC:30477"
                     /db_xref="MIM:618455"
                     /translation="MPRKQPAGCIFLLTFLGLSGLVGTVTRTYYIGIVEEYWNYVPQG
                     KNVITGKSFTEDKLATLFLERGPNRIGSIYKKAVYRRFTDGTYSIEIPKPPWLGFLGP
                     ILRAEVGDVIVIHLKNFASRPYSLHPHGVFYNKDSEGALYPDGTSGRNKNDDMVPPGK
                     NYTYVWPVREEYAPTPADANCLTWVYHSHIDAPKDICSGLIGPLLVCKEGILNRYSGT
                     RNDVDREFVIMFTLVDENQSWYLNENIKHFCTNPDSVDKKDAVFQRSNKMHALNGYLF
                     GNFPEPDMCVGESVSWHLFGMGNEIDIHSIYFYGNTFISRGHRTDVVNLFPATFLTTE
                     MIAENPGKWMITCQVSDHLQAGMLGQYNVDNCKSDIFYPKMKGQQRRYFIAAEKILWD
                     YAPQGYNKFSGLPLNASGSDSDLYFTQGDNRIGGKYWKVRYTEFVDATFTKRKRLSAE
                     EAHLGILGPVIKAEVGDTLLVTFANKADKVYSILPHGVIYDKASDAAPNLDGFVKPGA
                     HVKPGETFTYKWTVPESVSPTAGDPPCLTYLYFSAVDPIKDTSSGLVGPLLVCKKGVL
                     NADGTQKGIDKEFYLLFTVFDENLSRYFDENIQKFIWHPFSIDKEDKEFVKSNRMHAV
                     NGYMYGNQPGLNMCKRDRVSWHLIGLGTDTDMHGIVFQGNTIHLRGTHRDSLALFPHM
                     ATTAFMQPDHAGIFRVFCATMPHLSRGMGQIYEVSSCDNRDPSEQRYGMIRTFYIAAE
                     EVEWDYAPNKNWEFEKQHVDARGERHGDIFMNRTENWIGSQYKKVVYREYTDGEFVEI
                     KARPPREEHLELLGPMIHAEVGNTVLIIFKNKASRPYSISAQGVEEMDSGKQFQVPMT
                     KPGEVKTYRWNIPKRSGPGPSDPNCIPWVYYSTVNFVKDTYSGLMGPLITCRKGVLNE
                     KGRRSDVDYEFALLFLVFNENESWYLDDNIKKYLNKDPRDFKRTDDFEESNRMHAING
                     KIFGNLHGLIMNEDTMTNWYLLGIGSEVDIHTIHYHAESFLFKIDKSYREDVYDLFPG
                     TFQTIELFADHPGTWLLHCHVSDHIHAGMETTYTVLRNIDNRIPYSTTSPGVASHPAT
                     VPSNERPGKEQLYFFGKNLGPTGAKAALVILFIIGLLLLITTVILSLRLCSAMKQTDY
                     QQVQSCALPTDAL"
     exon            186..430
                     /gene="HEPHL1"
                     /gene_synonym="HJDD; ZP"
                     /inference="alignment:Splign:2.1.0"
     exon            431..643
                     /gene="HEPHL1"
                     /gene_synonym="HJDD; ZP"
                     /inference="alignment:Splign:2.1.0"
     exon            644..823
                     /gene="HEPHL1"
                     /gene_synonym="HJDD; ZP"
                     /inference="alignment:Splign:2.1.0"
     exon            824..1078
                     /gene="HEPHL1"
                     /gene_synonym="HJDD; ZP"
                     /inference="alignment:Splign:2.1.0"
     exon            1079..1247
                     /gene="HEPHL1"
                     /gene_synonym="HJDD; ZP"
                     /inference="alignment:Splign:2.1.0"
     exon            1248..1387
                     /gene="HEPHL1"
                     /gene_synonym="HJDD; ZP"
                     /inference="alignment:Splign:2.1.0"
     exon            1388..1519
                     /gene="HEPHL1"
                     /gene_synonym="HJDD; ZP"
                     /inference="alignment:Splign:2.1.0"
     exon            1520..1731
                     /gene="HEPHL1"
                     /gene_synonym="HJDD; ZP"
                     /inference="alignment:Splign:2.1.0"
     exon            1732..1882
                     /gene="HEPHL1"
                     /gene_synonym="HJDD; ZP"
                     /inference="alignment:Splign:2.1.0"
     exon            1883..2095
                     /gene="HEPHL1"
                     /gene_synonym="HJDD; ZP"
                     /inference="alignment:Splign:2.1.0"
     exon            2096..2309
                     /gene="HEPHL1"
                     /gene_synonym="HJDD; ZP"
                     /inference="alignment:Splign:2.1.0"
     exon            2310..2449
                     /gene="HEPHL1"
                     /gene_synonym="HJDD; ZP"
                     /inference="alignment:Splign:2.1.0"
     exon            2450..2590
                     /gene="HEPHL1"
                     /gene_synonym="HJDD; ZP"
                     /inference="alignment:Splign:2.1.0"
     exon            2591..2697
                     /gene="HEPHL1"
                     /gene_synonym="HJDD; ZP"
                     /inference="alignment:Splign:2.1.0"
     exon            2698..2920
                     /gene="HEPHL1"
                     /gene_synonym="HJDD; ZP"
                     /inference="alignment:Splign:2.1.0"
     exon            2921..3060
                     /gene="HEPHL1"
                     /gene_synonym="HJDD; ZP"
                     /inference="alignment:Splign:2.1.0"
     exon            3061..3223
                     /gene="HEPHL1"
                     /gene_synonym="HJDD; ZP"
                     /inference="alignment:Splign:2.1.0"
     exon            3224..3292
                     /gene="HEPHL1"
                     /gene_synonym="HJDD; ZP"
                     /inference="alignment:Splign:2.1.0"
     exon            3293..5809
                     /gene="HEPHL1"
                     /gene_synonym="HJDD; ZP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5332..5337
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HEPHL1"
                     /gene_synonym="HJDD; ZP"
                     /note="hexamer: AATAAA"
     polyA_site      5352
                     /gene="HEPHL1"
                     /gene_synonym="HJDD; ZP"
                     /note="major polyA site"
ORIGIN      
        1 gagttacatc cacaaatgcc tcggaagcag ccagctggct gcatctttct cctcacattc
       61 ctgggtctgt ctgggctggt tggcacagtt accagaacgt actacattgg gattgtggaa
      121 gaatactgga actatgtacc ccaagggaag aatgttatta ctgggaaaag tttcacagaa
      181 gacaaacttg caaccttatt tctcgaaaga gggcccaaca ggataggcag tatttacaaa
      241 aaggctgttt acagacgctt cacggatgga acctactcca tagagatccc caaacctccc
      301 tggcttggat tcctgggccc catcttgagg gccgaagtgg gtgatgtgat tgtcattcat
      361 ttaaagaact ttgcttctcg accttactct ctgcatccac atggcgtttt ctacaacaaa
      421 gattcagaag gagccctata cccagatgga acatctggaa ggaacaaaaa tgatgacatg
      481 gttcctcctg ggaaaaacta cacctacgtc tggccggtga gagaagaata tgcacctact
      541 ccagccgatg ccaactgcct gacctgggtg taccattcgc acatcgacgc cccaaaggac
      601 atctgctctg ggctaattgg gcccctgctg gtctgcaagg aaggtatcct gaatagatat
      661 tcagggacac ggaatgatgt ggatcgagag tttgttataa tgtttactct tgtggatgag
      721 aatcaaagct ggtacctcaa tgaaaatatc aaacatttct gcaccaaccc tgattcagtt
      781 gacaagaaag atgctgtttt ccagaggagt aacaaaatgc atgccctcaa tggatacctc
      841 ttcggaaact tcccggagcc tgatatgtgt gttggagaat ctgtgtcctg gcacctattt
      901 ggaatgggga atgaaataga catccattct atctatttct atggtaacac cttcatcagc
      961 agagggcatc ggactgatgt cgtcaacctg ttcccagcca ccttccttac aacagaaatg
     1021 atagccgaga atcctgggaa gtggatgata acctgccagg tcagcgacca cctacaagct
     1081 ggtatgctgg ggcaatacaa tgttgataac tgcaaaagtg atattttcta ccccaagatg
     1141 aagggtcaac agaggcgcta ctttatagca gctgaaaaaa ttctttggga ttatgctcct
     1201 caaggctata acaaattcag tggtcttcct ctaaacgcct ctggcagtga ctctgatctc
     1261 tacttcacac aaggggacaa cagaatagga ggaaaatact ggaaggttcg gtatactgaa
     1321 tttgttgatg caacttttac taaaagaaag agactctctg ctgaagaagc ccatcttgga
     1381 attcttggcc cagtcatcaa ggcagaggtg ggtgataccc tgttagtgac ctttgccaac
     1441 aaagccgaca aggtctatag cattttaccc catggtgtga tctatgacaa ggcatctgat
     1501 gcagccccaa acctagatgg atttgtgaaa ccaggggcgc atgttaaacc aggtgaaacc
     1561 ttcacataca agtggacagt gcctgagagc gtaagcccaa ctgctggtga tcctccctgt
     1621 ctgacctatc tttacttctc agcagttgat ccaattaagg acaccagctc tggcctggta
     1681 gggcctttgc tagtctgtaa aaagggcgtc ctcaatgctg atgggacaca gaaaggaata
     1741 gacaaggagt tttacctact gttcacagtc tttgatgaga atctgagcag atattttgat
     1801 gaaaacattc agaagtttat ctggcatccc ttcagcattg acaaagaaga taaagagttt
     1861 gtgaaatcca accgaatgca tgctgttaac ggctacatgt atggcaacca gccaggctta
     1921 aacatgtgta aaagggatag agtttcctgg catctgattg gattgggcac tgacactgac
     1981 atgcatggaa ttgtttttca agggaacacc atccacctac gagggactca ccgagactcc
     2041 ctggccctgt ttccccacat ggccacaaca gcattcatgc agccagacca tgcaggtatt
     2101 tttagggtgt tttgtgccac catgccccac ctctcgagag gcatgggtca gatctatgag
     2161 gtcagcagct gtgacaacag ggacccttct gagcagcggt acgggatgat aagaactttt
     2221 tacatcgccg ctgaagaagt agaatgggat tatgccccta acaaaaactg ggagttcgaa
     2281 aagcagcacg tggacgcaag aggggaaaga catggagata tatttatgaa ccgcactgaa
     2341 aattggattg gctctcagta caagaaggtg gtttacaggg aatatacgga tggagaattt
     2401 gtggagatca aagcccgacc accacgagag gagcacttag aactcctggg cccaatgatt
     2461 catgctgagg tgggcaacac cgtcctgatc atatttaaga acaaagccag taggccctac
     2521 tccatctcag cccagggtgt ggaggagatg gatagtggaa agcaattcca agtgcccatg
     2581 acaaaaccag gagaagtaaa aacttataga tggaatatcc ctaaaagatc cggtccaggg
     2641 ccttctgatc ccaattgtat tccatgggtt tactattcaa cagtaaactt tgtgaaggat
     2701 acgtatagtg gtttgatggg tcctctgatt acatgccgaa aaggagtctt gaatgaaaag
     2761 ggaagaagaa gtgacgttga ttatgaattt gctctcttgt ttttggtatt taatgagaat
     2821 gaatcctggt atctggatga caatattaag aagtatctca acaaagatcc acgagatttt
     2881 aagcgcactg atgattttga ggaaagcaac agaatgcatg ccattaatgg aaagattttt
     2941 gggaatctcc atggcctcat aatgaacgaa gatacaatga caaactggta tttgttaggg
     3001 ataggaagtg aagtggacat acataccatc cattatcatg ctgagagctt tcttttcaaa
     3061 atagataaat cttaccgaga agatgtgtat gatctctttc ctgggacatt ccaaaccatt
     3121 gaactgtttg cagatcaccc agggacatgg ctgctacact gtcatgtgtc tgaccacatc
     3181 catgctggca tggagacaac ctacacggtc cttcgtaaca tagacaacag gattccttac
     3241 tccaccacat ctcctggagt ggcatctcac ccagccacgg tgccatctaa cgaacgacct
     3301 ggcaaagagc agctctattt ctttggcaag aatctgggtc caacaggagc caaggcagcc
     3361 ttggtcatcc ttttcatcat tggactcctc cttctaatca ccacggtgat tctctccctc
     3421 agactctgct ctgcaatgaa gcagacagat taccagcaag tccagtcctg tgctctcccc
     3481 acggatgctc tgtgaaccat ctggtctccc tcaacaggaa agggtgatgt cccacagctg
     3541 gccagatggc agccaacagg gaaactggac caaggcatca ctcaccaagg aaggttgaca
     3601 ctgtatcctg gatcagcctt ctgatcctct caaacatcat ccaaagcaat ttgcttttat
     3661 ttatttattt ttaaatgggc tgcgaataat cctcaggtat aaaacacaga aaaaggagaa
     3721 tgggcatggc tgagaatgtc aactcttagt ctattctttg gttggattca ctgaatagga
     3781 gacactctga aagatatctt tatattccat cttttataat tcttgaacag tgctttctta
     3841 gctaaccacc aaagtttcta ggtgaacagc ttctagaaaa agttagagtg cctcagacat
     3901 ttaactggaa gggcactact ttttcaacat tgttgcataa catgcatccc ttggttctgt
     3961 ggaaaatatc tttcttagga gttcttggca atgtctaagt cagtgtctgc tgatagaatt
     4021 agaccaaata aattttttgg aggctttaac cagctctcct ggccttttcc tctttgatat
     4081 aaatagcctg tgcagtgctt gttttaaaaa gcaaagttat acgtttttta aaaaattgct
     4141 gctgttttta ttcaaacctg tagaaatact tgaatgttta caactcactt catgttacat
     4201 gtttttacaa tatgtttctg tggcaatgtt tgtactttca aaaatcaagt agagaaattg
     4261 tatttctact gcagactgtg ggagggctga aatctgtaaa agaacatgtt aggctctccc
     4321 tttatgaatc agggactccc tgagagttta gagcaagctt tctatcaggg agggaagctt
     4381 tgcaggaggc aagtctgggc ttgaatttgg agtctgattt ttcattcagt tagagggaat
     4441 ctttacaagt cctcatcttc tatgaaatta taacattctc attgtatgag aaacatcagg
     4501 aggaatttat caatgtaggt gactagatag gagaagggac ctctaaatat cctagattct
     4561 atggctttta aagacatacc tcttcatgga aggagaaaaa aggaaaagga aaggtgagaa
     4621 aaagataatc ttggtggcag attctcttaa accattaaac cagctttgaa aattaataaa
     4681 taatttccaa ggttcaaatg caaaaaaatt attgaacaac taaactcaac ccattatgag
     4741 gcaatctaca ctgtccatac ctatgcttag acagtaggtg taagattgat aaaagtaaca
     4801 ttgtttatta caagactgag aaattgcttt tagctctggg cgagatgccc tgagattcca
     4861 atgccaatgc tagatgagtg atactggtat gcctgcctta gcagtgggta atttgaatgt
     4921 caaagtgagt gacaaggacc taagaaatat tctggtggag ggacctttca cactgtctca
     4981 tcttcatctt catgagggga aatgggtaat tggatagaag ctatagtctt aacataaaag
     5041 gggatgcaaa tgctaatagt tctgttcata gtttgcttga atgtcatatc aaacagcata
     5101 cacaaaagat tttgaatttc aatctgctaa ccattgacaa tgtgatttca tagtacatgt
     5161 tctacagttt tcatacatgt gtaggctgca taatttcata attatggtaa atgccttatt
     5221 tattacccac cttagtaaga caagttgttc agttgttttt ttttcttttc agtttatttt
     5281 tttaatgaaa acaaaaccac aaagtagttt gattgcatca tttatcattt taataaagtg
     5341 tcacataagg tggctatttg catggttatt ttcacttaaa attatctatc actgaactag
     5401 gggaggtggt taaagtggaa ttaattttta gatatttagg ggctatgact atgccaatga
     5461 cacttgttag aggaaatgaa acaaaatagt gtatctccac aaataatatg acttctcaaa
     5521 cattgtttcc tcaaacataa ctacactcct tgttctcagc ctcactcttg agaaaatcaa
     5581 ctctgccttc acttacacac atatttcttc ctattacaat acacgtgtcc ctgctcctag
     5641 caggacagtc tcttcatttg actttgggtc tcattgcttc ttgctttctc aagacttcat
     5701 tcccttgggt atccattttt cctcctgcat ctttctatga aaccatcagc aatgtccgcc
     5761 attaaaaaca gaaagcaatg tgctgtctta tttaactcta taaccccct
//
