ID E7ES21_HUMAN Unreviewed; 969 AA. AC E7ES21; DT 08-MAR-2011, integrated into UniProtKB/TrEMBL. DT 08-MAR-2011, sequence version 1. DT 16-JAN-2019, entry version 69. DE SubName: Full=Hephaestin {ECO:0000313|Ensembl:ENSP00000413211}; GN Name=HEPH {ECO:0000313|Ensembl:ENSP00000413211}; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606 {ECO:0000313|Ensembl:ENSP00000413211, ECO:0000313|Proteomes:UP000005640}; RN [1] {ECO:0000313|Ensembl:ENSP00000413211, ECO:0000313|Proteomes:UP000005640} RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15772651; DOI=10.1038/nature03440; RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., RA Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., RA Jones M.C., Hurles M.E., Andrews T.D., Scott C.E., Searle S., RA Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., RA Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., RA Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., RA Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., RA Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., RA Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., RA Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., RA Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., RA Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., RA Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., RA Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., RA Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., RA Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., RA Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., RA Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., RA Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., RA Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., RA Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., RA Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., RA Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., RA Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., RA de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., RA Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., RA Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., RA Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., RA Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., RA Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., RA Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., RA Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., RA Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., RA Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., RA Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., RA Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., RA Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., RA Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., RA Williams G., Williams L., Williamson A., Williamson H., Wilming L., RA Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., RA Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., RA Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., RA Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., RA Gibbs R.A., Beck S., Rogers J., Bentley D.R.; RT "The DNA sequence of the human X chromosome."; RL Nature 434:325-337(2005). RN [2] {ECO:0000313|Ensembl:ENSP00000413211} RP IDENTIFICATION. RG Ensembl; RL Submitted (JUL-2011) to UniProtKB. RN [3] {ECO:0000213|PubMed:23186163} RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=23186163; RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., RA Mohammed S.; RT "Toward a comprehensive characterization of a human cancer cell RT phosphoproteome."; RL J. Proteome Res. 12:260-271(2013). CC -!- SIMILARITY: Belongs to the multicopper oxidase family. CC {ECO:0000256|SAAS:SAAS00534212}. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC ----------------------------------------------------------------------- DR EMBL; AL030998; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AL157698; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; KF459144; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; KF459146; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR RefSeq; NP_001269070.1; NM_001282141.1. DR UniGene; Hs.31720; -. DR ProteinModelPortal; E7ES21; -. DR jPOST; E7ES21; -. DR MaxQB; E7ES21; -. DR PeptideAtlas; E7ES21; -. DR PRIDE; E7ES21; -. DR Ensembl; ENST00000419594; ENSP00000413211; ENSG00000089472. DR GeneID; 9843; -. DR UCSC; uc010nkr.5; human. DR CTD; 9843; -. DR EuPathDB; HostDB:ENSG00000089472.16; -. DR HGNC; HGNC:4866; HEPH. DR OpenTargets; ENSG00000089472; -. DR eggNOG; KOG1263; Eukaryota. DR eggNOG; COG2132; LUCA. DR GeneTree; ENSGT00940000158517; -. DR OrthoDB; 454773at2759; -. DR GenomeRNAi; 9843; -. DR Proteomes; UP000005640; Chromosome X. DR Bgee; ENSG00000089472; Expressed in 204 organ(s), highest expression level in colon. DR ExpressionAtlas; E7ES21; baseline and differential. DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW. DR GO; GO:0005886; C:plasma membrane; IEA:InterPro. DR GO; GO:0005507; F:copper ion binding; IEA:InterPro. DR GO; GO:0016491; F:oxidoreductase activity; IEA:UniProtKB-KW. DR GO; GO:0006879; P:cellular iron ion homeostasis; IEA:InterPro. DR GO; GO:0006826; P:iron ion transport; IEA:InterPro. DR Gene3D; 2.60.40.420; -; 4. DR InterPro; IPR011706; Cu-oxidase_2. DR InterPro; IPR011707; Cu-oxidase_3. DR InterPro; IPR033138; Cu_oxidase_CS. DR InterPro; IPR002355; Cu_oxidase_Cu_BS. DR InterPro; IPR008972; Cupredoxin. DR InterPro; IPR027154; HEPH. DR PANTHER; PTHR44048:SF1; PTHR44048:SF1; 2. DR Pfam; PF07731; Cu-oxidase_2; 1. DR Pfam; PF07732; Cu-oxidase_3; 2. DR SUPFAM; SSF49503; SSF49503; 5. DR PROSITE; PS00079; MULTICOPPER_OXIDASE1; 2. DR PROSITE; PS00080; MULTICOPPER_OXIDASE2; 1. PE 1: Evidence at protein level; KW Complete proteome {ECO:0000313|Proteomes:UP000005640}; KW Copper {ECO:0000256|SAAS:SAAS00524507}; KW Membrane {ECO:0000256|SAM:Phobius}; KW Metal-binding {ECO:0000256|SAAS:SAAS00524516}; KW Oxidoreductase {ECO:0000256|SAAS:SAAS00644416}; KW Proteomics identification {ECO:0000213|MaxQB:E7ES21, KW ECO:0000213|PeptideAtlas:E7ES21}; KW Reference proteome {ECO:0000313|Proteomes:UP000005640}; KW Signal {ECO:0000256|SAM:SignalP}; KW Transmembrane {ECO:0000256|SAM:Phobius}; KW Transmembrane helix {ECO:0000256|SAM:Phobius}. FT SIGNAL 1 26 {ECO:0000256|SAM:SignalP}. FT CHAIN 27 969 {ECO:0000256|SAM:SignalP}. FT /FTId=PRO_5003219473. FT TRANSMEM 918 943 Helical. {ECO:0000256|SAM:Phobius}. FT DOMAIN 101 207 Plastocyanin-like. FT {ECO:0000259|Pfam:PF07732}. FT DOMAIN 620 680 Plastocyanin-like. FT {ECO:0000259|Pfam:PF07732}. FT DOMAIN 767 873 Plastocyanin-like. FT {ECO:0000259|Pfam:PF07731}. SQ SEQUENCE 969 AA; 109767 MW; 223D98D789B71CB3 CRC64; MWAMESGHLL WALLFMQSLW PQLTDGATRV YYLGIRDVQW NYAPKGRNVI TNQPLDSDIV ASSFLKSDKN RIGGTYKKTI YKEYKDDSYT DEVAQPAWLG FLGPVLQAEV GDVILIHLKN FATRPYTIHP HGVFYEKDSE GSLYPDGSSG PLKADDSVPP GGSHIYNWTI PEGHAPTDAD PACLTWIYHS HVDAPRDIAT GLIGPLITCK RGALDGNSPP QRQDVDHDFF LLFSVVDENL SWHLNENIAT YCSDPASVDK EDETFQESNR MHAINGFVFG NLPELNMCAQ KRVAWHLFGM GNEIDVHTAF FHGQMLTTRG HHTDVANIFP ATFVTAEMVP WEPGTWLISC QVNSHFRDGM QALYKVKSCS MAPPVDLLTG KVRQYFIEAH EIQWDYGPMG HDGSTGKNLR EPGSISDKFF QKSSSRIGGT YWKVRYEAFQ DETFQEKMHL EEDRHLGILG PVIRAEVGDT IQVVFYNRAS QPFSMQPHGV FYEKDYEGTV YNDGTFEIYC QAGSHREAGM RAIYNVSQCP GHQATPRQRY QAARIYYIMA EEVEWDYCPD RSWEREWHNQ SEKDSYGYIF LSNKDGLLGS RYKKAVFREY TDGTFRIPRP RTGPEEHLGI LGPLIKGEVG DILTVVFKNN ASRPYSVHAH GVLESTTVWP LAAEPGEVVT YQWNIPERSG PGPNDSACVS WIYYSAVDPI KDMYSGLVGP LAICQKGILE PHGGRSDMDR EFALLFLIFD ENKSWYLEEN VATHGSQDPG SINLQDETFL ESNKMHAING KLYANLRGLT MYQGERVAWY MLAMGQDVDL HTIHFHAESF LYRNGENYRA DVVDLFPGTF EVVEMVASNP GTWLMHCHVT DHVHAGMETL FTVFSRTEHL SPLTVITKET EKAVPPRDIE EGNVKMLGMQ IPIKNVEMLA SVLVAISVTL LLVVLALGGV VWYQHRQRKL RRNRRSILDD SFKLLSFKQ //