LOCUS       NM_010417               4693 bp    mRNA    linear   ROD 19-SEP-2024
DEFINITION  Mus musculus hephaestin (Heph), transcript variant 1, mRNA.
ACCESSION   NM_010417
VERSION     NM_010417.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 4693)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 4693)
  AUTHORS   Zhang,K.R., Baumann,B., Song,Y., Sterling,J., Erler,E.A.,
            Guttha,S., Kozmik,Z. and Dunaief,J.L.
  TITLE     Conditional knockout of hephaestin in the neural retina disrupts
            retinal iron homeostasis
  JOURNAL   Exp Eye Res 218, 109028 (2022)
   PUBMED   35271829
REFERENCE   3  (bases 1 to 4693)
  AUTHORS   Chen,Z., Jiang,R., Chen,M., Zheng,J., Chen,M., Braidy,N., Liu,S.,
            Liu,G., Maimaitiming,Z., Shen,T., Dunaief,J.L., Vulpe,C.D.,
            Anderson,G.J. and Chen,H.
  TITLE     Multi-copper ferroxidase deficiency leads to iron accumulation and
            oxidative damage in astrocytes and oligodendrocytes
  JOURNAL   Sci Rep 9 (1), 9437 (2019)
   PUBMED   31263155
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4693)
  AUTHORS   Dlouhy,A.C., Bailey,D.K., Steimle,B.L., Parker,H.V. and Kosman,D.J.
  TITLE     Fluorescence resonance energy transfer links membrane ferroportin,
            hephaestin but not ferroportin, amyloid precursor protein complex
            with iron efflux
  JOURNAL   J Biol Chem 294 (11), 4202-4214 (2019)
   PUBMED   30647129
REFERENCE   5  (bases 1 to 4693)
  AUTHORS   Fuqua,B.K., Lu,Y., Frazer,D.M., Darshan,D., Wilkins,S.J., Dunn,L.,
            Loguinov,A.V., Kogan,S.C., Matak,P., Chen,H., Dunaief,J.L.,
            Vulpe,C.D. and Anderson,G.J.
  TITLE     Severe Iron Metabolism Defects in Mice With Double Knockout of the
            Multicopper Ferroxidases Hephaestin and Ceruloplasmin
  JOURNAL   Cell Mol Gastroenterol Hepatol 6 (4), 405-427 (2018)
   PUBMED   30182051
  REMARK    GeneRIF: HEPH and CP are not essential for intestinal iron
            absorption but are required for proper systemic iron distribution.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4693)
  AUTHORS   Noebels,J.L., Qiao,X., Bronson,R.T., Spencer,C. and Davisson,M.T.
  TITLE     Stargazer: a new neurological mutant on chromosome 15 in the mouse
            with prolonged cortical seizures
  JOURNAL   Epilepsy Res 7 (2), 129-135 (1990)
   PUBMED   2289471
  REMARK    Erratum:[Epilepsy Res 1992 Mar;11(1):72]
REFERENCE   7  (bases 1 to 4693)
  AUTHORS   Kingston,P.J., Bannerman,C.E. and Bannerman,R.M.
  TITLE     Iron deficiency anaemia in newborn sla mice: a genetic defect of
            placental iron transport
  JOURNAL   Br J Haematol 40 (2), 265-276 (1978)
   PUBMED   708646
REFERENCE   8  (bases 1 to 4693)
  AUTHORS   Sassa,S. and Bernstein,S.E.
  TITLE     Studies of erythrocyte protoporphyrin in anemic mutant mice: use of
            a modified hematofluorometer for the detection of heterozygotes for
            hemolytic disease
  JOURNAL   Exp Hematol 6 (5), 479-487 (1978)
   PUBMED   658175
REFERENCE   9  (bases 1 to 4693)
  AUTHORS   Bannerman,R.M.
  TITLE     Genetic defects of iron transport
  JOURNAL   Fed Proc 35 (11), 2281-2285 (1976)
   PUBMED   782924
  REMARK    Review article
REFERENCE   10 (bases 1 to 4693)
  AUTHORS   Bedard,Y.C., Pinkerton,P.H. and Simon,G.T.
  TITLE     Uptake of circulating iron by the duodenum of normal mice and mice
            with altered iron stores, including sex-linked anemia: high
            resolution radioautographic study
  JOURNAL   Lab Invest 34 (6), 611-615 (1976)
   PUBMED   180329
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CJ067085.1, AF082567.1 and AK129194.1.
            
            On Apr 25, 2009 this sequence version replaced NM_010417.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1). Both variants 1 and
            3 encode the same isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF082567.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849377
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                CJ067085.1         1-25
            26-3709             AF082567.1         138-3821
            3710-4663           AK129194.1         3658-4611
            4664-4693           AF082567.1         4775-4804
FEATURES             Location/Qualifiers
     source          1..4693
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="X"
                     /map="X 42.69 cM"
     gene            1..4693
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /note="hephaestin"
                     /db_xref="GeneID:15203"
                     /db_xref="MGI:MGI:1332240"
     exon            1..278
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /inference="alignment:Splign:2.1.0"
     exon            279..473
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /inference="alignment:Splign:2.1.0"
     exon            474..674
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /inference="alignment:Splign:2.1.0"
     CDS             508..3981
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /EC_number="1.16.3.1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; sex linked anemia; haphaestin"
                     /codon_start=1
                     /product="hephaestin isoform 1 precursor"
                     /protein_id="NP_034547.2"
                     /db_xref="CCDS:CCDS30289.1"
                     /db_xref="GeneID:15203"
                     /db_xref="MGI:MGI:1332240"
                     /translation="MKAGHLLWALLLMHSLWSIPTDGAIRNYYLGIQDMQWNYAPKGR
                     NVITNQTLNNDTVASSFLKSGKNRIGSSYKKTVYKEYSDGTYTEEIAKPAWLGFLGPL
                     LQAEVGDVILIHLKNFASRPYTIHPHGVFYEKDSEGSLYPDGSSGYLKADDSVPPGGS
                     HVYNWSIPESHAPTEADPACLTWIYHSHVDAPRDIATGLIGPLITCKRGTLDGNSPPQ
                     RKDVDHNFFLLFSVIDENLSWHLDDNIATYCSDPASVDKEDGAFQDSNRMHAINGFVF
                     GNLPELSMCAQKHVAWHLFGMGNEIDVHTAFFHGQMLSIRGHHTDVANIFPATFVTAE
                     MVPQKSGTWLISCEVNSHLRSGMQAFYKVDSCSMDPPVDQLTGKVRQYFIQAHEIQWD
                     YGPIGYDGRTGKSLREPGSGPDKYFQKSSSRIGGTYWKVRYEAFQDETFQERVHQEEE
                     THLGILGPVIRAEVGDTIQVVFYNRASQPFSIQPHGVFYEKNSEGTVYNDGTSHPKVA
                     KSFEKVTYYWTVPPHAGPTAQDPACLTWMYFSAADPTRDTNSGLVGPLLVCKAGALGA
                     DGKQKGVDKEFFLLFTVFDENESWYNNANQAAGMLDSRLLSEDVEGFQDSNRMHAING
                     FLFSNLPRLDMCKGDTVAWHLLGLGTETDVHGVMFEGNTVQLQGMRKGAVMLFPHTFV
                     TAIMQPDNPGIFEIYCQAGSHREEGMQAIYNVSQCSSHQDSPRQHYQASRVYYIMAEE
                     IEWDYCPDRSWELEWHNTSEKDSYGHVFLSNKDGLLGSKYKKAVFREYTDGTFRIPRP
                     RSGPEEHLGILGPLIRGEVGDILTVVFKNKASRPYSIHAHGVLESNTGGPQAAEPGEV
                     LTYQWNIPERSGPGPSDSACVSWIYYSAVDPIKDMYSGLVGPLVICRNGILEPNGGRN
                     DMDREFALLFLIFDENQSWYLKENIATYGPQESSHVNLKDATFLESNKMHAINGKLYA
                     NLRGLTVYQGERVAWYMLAMGQDTDIHTVHFHAESFLYQNGQSYRADVVDLFPGTFEV
                     VEMVASNPGTWLMHCHVTDHVHAGMETIFTVLSHEEHFSTMTTITKEIGKAVILRDIG
                     GDNVKMLGMNIPIKDVEILSSALIAICVLLLLIALALGGVVWYQHRQRKLRRNRRSIL
                     DDSFKLLSLKQ"
     exon            675..919
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /inference="alignment:Splign:2.1.0"
     exon            920..1132
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /inference="alignment:Splign:2.1.0"
     exon            1133..1315
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /inference="alignment:Splign:2.1.0"
     exon            1316..1570
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /inference="alignment:Splign:2.1.0"
     exon            1571..1739
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /inference="alignment:Splign:2.1.0"
     exon            1740..1876
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /inference="alignment:Splign:2.1.0"
     exon            1877..2008
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /inference="alignment:Splign:2.1.0"
     exon            2009..2217
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /inference="alignment:Splign:2.1.0"
     exon            2218..2368
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /inference="alignment:Splign:2.1.0"
     exon            2369..2581
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /inference="alignment:Splign:2.1.0"
     exon            2582..2795
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /inference="alignment:Splign:2.1.0"
     exon            2796..2935
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /inference="alignment:Splign:2.1.0"
     exon            2936..3067
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /inference="alignment:Splign:2.1.0"
     exon            3068..3174
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /inference="alignment:Splign:2.1.0"
     exon            3175..3400
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /inference="alignment:Splign:2.1.0"
     exon            3401..3540
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /inference="alignment:Splign:2.1.0"
     exon            3541..3703
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /inference="alignment:Splign:2.1.0"
     exon            3704..3748
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /inference="alignment:Splign:2.1.0"
     exon            3749..4666
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4645..4650
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /note="hexamer: ATTAAA"
     polyA_site      4666
                     /gene="Heph"
                     /gene_synonym="C130006F04Rik; Cpl; Hp; mKIAA0698; sla"
                     /note="major polyA site"
ORIGIN      
        1 aatttgcagg gcagctcctc agtggctgac tagccttaaa acctctagtt gtttatggtt
       61 cagactttgc cctaccagct cagtgggact ttctgtctta tgaaagtcct ctttcttggc
      121 ccctactcca ggtgcttcag gttcggggca aaggaagtgt gtagagctgg agtgaagaag
      181 acagtctgct ctcagtggag atctccccaa ggcaaagtaa ggacaccacg tactagatta
      241 tcatcttacc tgtactcttc gtgagtttgg ggagtctggt aaataagctg aaggcataac
      301 tgcttgtact tctttgagaa ggaagtttga acgaagtcca gtgtacacgc agaagtccac
      361 tgaaagaagg tcactccttc caggctgagg gtcctaagga atggataaat gtgtttccag
      421 gcatagtatt gtgtgtagtt acatgtgact gtacctgtgt ttcaccagta aatattccat
      481 ttcctgtttc tcaaagtact gtgggccatg aaggcaggcc atcttctctg ggctttactg
      541 ttgatgcact ccttgtggtc tataccaact gatggggcca ttcgaaacta ctacttgggc
      601 atccaggata tgcagtggaa ctatgctccc aaaggaagaa atgtcatcac aaatcagact
      661 ctcaacaatg acacagtggc ttccagtttc ctgaagtctg gcaaaaacag gatagggagt
      721 agttacaaga agactgttta taaggaatac agtgatggca catacactga agaaatagcc
      781 aagcctgcct ggttgggctt cctaggacca ctgttacagg ctgaggtggg ggatgtcatc
      841 ttgattcacc tgaagaattt tgcgagccga ccttacacca ttcaccctca cggtgttttt
      901 tatgagaagg actcagaagg ctcactatac ccagatggtt cttctgggta tctgaaagcg
      961 gatgattctg tcccccctgg gggcagccat gtctacaact ggagtattcc agaaagtcat
     1021 gcccccactg aggcagaccc agcatgcctc acctggattt accactcgca tgtagatgct
     1081 ccaagagaca ttgcaactgg tctcattgga cctcttatca cctgtaaaag agggaccctg
     1141 gatggtaatt ccccacctca gaggaaggat gtggaccata atttcttcct cctcttcagt
     1201 gtgatagatg agaaccttag ctggcacctt gatgacaaca ttgctactta ctgctcagac
     1261 cctgcctcgg tggacaaaga agatggagcc tttcaagaca gcaacaggat gcatgcaatc
     1321 aatgggtttg tctttgggaa cttaccagag ttgagcatgt gtgcacagaa gcatgtggcc
     1381 tggcacttgt ttggcatggg caatgaaata gatgtccaca cagctttctt ccatggacag
     1441 atgctgagta tccgtggaca ccacactgat gttgcaaaca tttttccagc tacctttgtg
     1501 actgctgaga tggtgcccca aaagtctgga acctggctaa ttagctgtga agtgaacagc
     1561 cacttgagaa gtggcatgca ggccttctac aaggttgact cttgctccat ggacccacct
     1621 gtggaccagc tcactggcaa agttcgtcag tacttcattc aggcccatga gattcaatgg
     1681 gactatggtc caatagggta tgatggcaga actgggaaga gtttgagaga gccaggaagt
     1741 ggcccagata agtacttcca gaagagctct agtcgaattg gaggtactta ctggaaagtt
     1801 cgatatgaag cctttcaaga tgagacattc caggaaaggg tacatcagga agaagaaaca
     1861 catcttggaa tactgggacc agtgataagg gctgaagtgg gtgacaccat ccaggtggtc
     1921 ttctataacc gtgcctccca gccattcagc atacagcccc atggtgtctt ttatgagaaa
     1981 aactctgagg gcaccgtgta caatgatggc acatctcatc ccaaagtagc caagtcattt
     2041 gaaaaagtca catactactg gacggttcct ccccatgctg ggcccactgc tcaggatcct
     2101 gcctgtctaa cctggatgta cttctctgct gcagatccca caagagatac aaattctggc
     2161 ctggtgggcc ctctactggt gtgcaaggct ggggccttgg gtgcagatgg caagcagaaa
     2221 ggagtggata aagaattttt tctcctcttc actgtgtttg atgagaatga gagctggtac
     2281 aacaatgcca atcaggcagc tggtatgttg gattcccgac tgctctcaga ggatgtcgag
     2341 ggcttccagg actccaatcg aatgcatgct attaatggat ttctgttctc taacctgccc
     2401 aggctggaca tgtgcaaggg tgatactgtg gcctggcacc tgcttggcct gggcacagag
     2461 actgatgtac atggggtaat gttcgagggc aacactgtgc agcttcaggg catgaggaaa
     2521 ggtgcagtca tgctctttcc tcacaccttt gtgacggcca tcatgcagcc tgacaatcct
     2581 ggaatatttg aaatctactg ccaagcaggc agccaccgag aggaagggat gcaggcaatt
     2641 tataatgtct ctcagtgttc tagtcatcaa gacagcccac gccaacacta ccaagcttca
     2701 agagtctact atatcatggc agaagagata gagtgggatt actgccctga tagaagctgg
     2761 gaactggaat ggcataacac atctgagaaa gacagctatg gccatgtttt cctgagcaat
     2821 aaagatgggc tcctgggttc caaatataag aaagctgtat tcagggaata cactgatggt
     2881 actttcagaa tacctcggcc aaggtctgga ccagaggagc acttgggaat cctgggtcca
     2941 cttatcagag gagaggttgg tgatatcttg actgtagtgt tcaagaataa ggccagtcga
     3001 ccatattcta tacatgccca tggagttcta gaatctaaca ctggcgggcc acaggctgct
     3061 gagcctggtg aagtacttac ttaccagtgg aacatcccag aaagatctgg tcctggtcct
     3121 agtgactctg cttgtgtttc ctggatttat tattctgcag tggatcccat caaggacatg
     3181 tatagtggtc tggttggacc cctagtcatc tgcagaaatg gtatcttgga acccaatgga
     3241 ggccggaatg atatggaccg ggaatttgcc ttgttgtttt tgatctttga tgagaaccaa
     3301 tcttggtatc tgaaggagaa tattgcaaca tatggacctc aagaatcaag tcatgttaac
     3361 ttgaaggatg ccaccttcct agagagcaat aaaatgcatg ctatcaatgg gaaactctat
     3421 gcaaacctca ggggtcttac tgtataccaa ggagaacgag tagcctggta catgctagcc
     3481 atgggccaag atactgacat tcacactgta cacttccatg cagagagttt cctctatcag
     3541 aatgggcaaa gttacagggc agatgtggtg gatctcttcc caggaacatt tgaagttgtg
     3601 gagatggtag ccagcaaccc tgggacatgg ctgatgcact gccatgtgac tgaccatgtt
     3661 catgctggca tggagaccat ctttacggtc ttgtctcatg aagaacattt cagcactatg
     3721 accactatta ctaaagagat tggaaaagca gtgattctaa gggacattgg aggtgacaat
     3781 gtgaagatgc tgggcatgaa cattcccata aaggatgtag agattctgtc ttctgctttg
     3841 attgccatat gtgtgcttct gttgctcatt gctctggctc ttggtggtgt agtctggtac
     3901 cagcatcgac aaagaaagct tcggcgcaac aggaggtcca ttcttgatga tagcttcaag
     3961 cttctctctc tcaagcaata atagctaaag cctgaagata tcttcagaaa acacatctgg
     4021 gatgtatccc atgttcccag aaagctgtgt actagttaaa aactcttttg tcaaggggta
     4081 gggatagtgg agaggcagag gatggaatca gaattatctg ggcatttcct tatttattta
     4141 cattgaattc atatgttctc acctttttaa aaatttccat acaacttgag aattaggtaa
     4201 gttcctttgt atacaaattt cagcagctag gatatgtcac ccttcagtac tacaaagtac
     4261 agaaattcct agaatataat cattctcaca gaatagatac caagaaaaag ctatctatta
     4321 ggtttctaat tccaggacct agatagacaa gtacactttt aattgaggcc aaatgatgag
     4381 ccacaatggt aacccataac taaatagagg acaaagaaca taagtatgat gcaaaatgag
     4441 aggtaggatg tgtagcagga ttccaaattt tagcttaatt gtctttgaca atggactatt
     4501 tggagaaatg aatgaatagg ttgtggctgt caacctctgg aaccagaagt gcctgtaaga
     4561 cagtccttca agtttttaca cagaagagaa ttttgagtgt cctctctatg tttcaaatag
     4621 caaatcttgt tcattaaaat acttattaaa agatttgaat accaaaaaaa aaaaaaaaaa
     4681 aaaaaaaaaa aaa
//
