Hephaestin

Details

Name
Hephaestin
Synonyms
  • 1.-.-.-
  • KIAA0698
Gene Name
HEPH
Organism
Humans
Amino acid sequence
>lcl|BSEQ0049450|Hephaestin
MESGHLLWALLFMQSLWPQLTDGATRVYYLGIRDVQWNYAPKGRNVITNQPLDSDIVASS
FLKSDKNRIGGTYKKTIYKEYKDDSYTDEVAQPAWLGFLGPVLQAEVGDVILIHLKNFAT
RPYTIHPHGVFYEKDSEGSLYPDGSSGPLKADDSVPPGGSHIYNWTIPEGHAPTDADPAC
LTWIYHSHVDAPRDIATGLIGPLITCKRGALDGNSPPQRQDVDHDFFLLFSVVDENLSWH
LNENIATYCSDPASVDKEDETFQESNRMHAINGFVFGNLPELNMCAQKRVAWHLFGMGNE
IDVHTAFFHGQMLTTRGHHTDVANIFPATFVTAEMVPWEPGTWLISCQVNSHFRDGMQAL
YKVKSCSMAPPVDLLTGKVRQYFIEAHEIQWDYGPMGHDGSTGKNLREPGSISDKFFQKS
SSRIGGTYWKVRYEAFQDETFQEKMHLEEDRHLGILGPVIRAEVGDTIQVVFYNRASQPF
SMQPHGVFYEKDYEGTVYNDGSSYPGLVAKPFEKVTYRWTVPPHAGPTAQDPACLTWMYF
SAADPIRDTNSGLVGPLLVCRAGALGADGKQKGVDKEFFLLFTVLDENKSWYSNANQAAA
MLDFRLLSEDIEGFQDSNRMHAINGFLFSNLPRLDMCKGDTVAWHLLGLGTETDVHGVMF
QGNTVQLQGMRKGAAMLFPHTFVMAIMQPDNLGTFEIYCQAGSHREAGMRAIYNVSQCPG
HQATPRQRYQAARIYYIMAEEVEWDYCPDRSWEREWHNQSEKDSYGYIFLSNKDGLLGSR
YKKAVFREYTDGTFRIPRPRTGPEEHLGILGPLIKGEVGDILTVVFKNNASRPYSVHAHG
VLESTTVWPLAAEPGEVVTYQWNIPERSGPGPNDSACVSWIYYSAVDPIKDMYSGLVGPL
AICQKGILEPHGGRSDMDREFALLFLIFDENKSWYLEENVATHGSQDPGSINLQDETFLE
SNKMHAINGKLYANLRGLTMYQGERVAWYMLAMGQDVDLHTIHFHAESFLYRNGENYRAD
VVDLFPGTFEVVEMVASNPGTWLMHCHVTDHVHAGMETLFTVFSRTEHLSPLTVITKETE
KAVPPRDIEEGNVKMLGMQIPIKNVEMLASVLVAISVTLLLVVLALGGVVWYQHRQRKLR
RNRRSILDDSFKLLSFKQ
Number of residues
1158
Molecular Weight
130447.755
Theoretical pI
Not Available
GO Classification
Functions
copper ion binding / ferrous iron binding / ferroxidase activity
Processes
cellular iron ion homeostasis / copper ion transport / iron ion transport
Components
basolateral plasma membrane / integral component of membrane / intracellular / perinuclear region of cytoplasm / plasma membrane
General Function
Ferroxidase activity
Specific Function
May function as a ferroxidase for ferrous (II) to ferric ion (III) conversion and may be involved in copper transport and homeostasis. Implicated in iron homeostasis and may mediate iron efflux associated to ferroportin 1.
Pfam Domain Function
Transmembrane Regions
1111-1131
Cellular Location
Membrane
Gene sequence
>lcl|BSEQ0049451|Hephaestin (HEPH)
ATGTGGGCCATGGAGTCAGGCCACCTCCTCTGGGCTCTGCTGTTCATGCAGTCCTTGTGG
CCTCAACTGACTGATGGAGCCACTCGAGTCTACTACCTGGGCATCCGGGATGTGCAGTGG
AACTATGCTCCCAAGGGAAGAAATGTCATCACGAACCAGCCTCTGGACAGTGACATAGTG
GCTTCCAGCTTCTTAAAGTCTGACAAGAACCGGATAGGGGGAACCTACAAGAAGACCATC
TATAAAGAATACAAGGATGACTCATACACAGATGAAGTGGCCCAGCCTGCCTGGTTGGGC
TTCCTGGGGCCAGTGTTGCAGGCTGAAGTGGGGGATGTCATTCTTATTCACCTGAAGAAT
TTTGCCACTCGTCCCTATACCATCCACCCTCATGGTGTCTTCTACGAGAAGGACTCTGAA
GGTTCCCTATACCCAGATGGCTCCTCTGGGCCACTGAAAGCTGATGACTCTGTTCCCCCG
GGGGGCAGCCATATCTACAACTGGACCATTCCAGAAGGCCATGCACCCACCGATGCTGAC
CCAGCGTGCCTCACCTGGATCTACCATTCTCATGTAGATGCTCCACGAGACATTGCAACT
GGCCTAATTGGGCCTCTCATCACCTGTAAAAGAGGAGCCCTGGATGGGAACTCCCCTCCT
CAACGCCAGGATGTAGACCATGATTTCTTCCTCCTCTTCAGTGTGGTAGATGAGAACCTC
AGCTGGCATCTCAATGAGAACATTGCCACTTACTGCTCAGATCCTGCTTCAGTGGACAAA
GAAGATGAGACATTTCAGGAGAGCAATAGGATGCATGCAATCAATGGCTTTGTTTTTGGG
AATTTACCTGAGCTGAACATGTGTGCACAGAAACGTGTGGCCTGGCACTTGTTTGGCATG
GGCAATGAAATTGATGTCCACACAGCATTTTTCCATGGACAGATGCTGACTACCCGTGGA
CACCACACTGATGTGGCTAACATCTTTCCAGCCACCTTTGTGACTGCTGAGATGGTGCCC
TGGGAACCTGGTACCTGGTTAATTAGCTGCCAAGTGAACAGTCACTTTCGAGATGGCATG
CAGGCACTCTACAAGGTCAAGTCTTGCTCCATGGCCCCTCCTGTGGACCTGCTCACAGGC
AAAGTTCGACAGTACTTCATTGAGGCCCATGAGATTCAATGGGACTATGGCCCGATGGGG
CATGATGGGAGTACTGGGAAGAATTTGAGAGAGCCAGGCAGTATCTCAGATAAGTTTTTC
CAGAAGAGCTCCAGCCGAATTGGGGGCACTTACTGGAAAGTGCGATATGAAGCCTTTCAA
GATGAGACATTCCAAGAGAAGATGCATTTGGAGGAAGATAGGCATCTTGGAATCCTGGGG
CCAGTGATCCGGGCTGAGGTGGGTGACACCATTCAGGTGGTCTTCTACAACCGTGCCTCC
CAGCCATTCAGCATGCAGCCCCATGGGGTCTTTTATGAGAAAGACTATGAAGGCACTGTG
TACAATGATGGCTCATCTTACCCTGGCTTGGTTGCCAAGCCCTTTGAGAAAGTAACATAC
CGCTGGACAGTCCCCCCTCATGCCGGTCCCACTGCTCAGGATCCTGCTTGTCTCACTTGG
ATGTACTTCTCTGCTGCAGATCCCATAAGAGACACAAATTCTGGCCTGGTGGGCCCGCTG
CTGGTGTGCAGGGCTGGTGCCTTGGGTGCAGATGGCAAGCAGAAAGGGGTGGATAAAGAA
TTCTTTCTTCTCTTCACTGTGTTGGATGAGAACAAGAGCTGGTACAGCAATGCCAATCAA
GCAGCTGCTATGTTGGATTTCCGACTGCTTTCAGAGGATATTGAGGGCTTCCAAGACTCC
AATCGGATGCATGCCATTAATGGGTTTCTGTTCTCTAACCTGCCCAGGCTGGACATGTGC
AAGGGTGACACAGTGGCCTGGCACCTGCTCGGCCTGGGCACAGAGACTGATGTGCATGGA
GTCATGTTCCAGGGCAACACTGTGCAGCTTCAGGGCATGAGGAAGGGTGCAGCTATGCTC
TTTCCTCATACCTTTGTCATGGCCATCATGCAGCCTGACAACCTTGGGACATTTGAGATT
TATTGCCAGGCAGGCAGCCATCGAGAAGCAGGGATGAGGGCAATCTATAATGTCTCCCAG
TGTCCTGGCCACCAAGCCACCCCTCGCCAACGCTACCAAGCTGCAAGAATCTACTATATC
ATGGCAGAAGAAGTAGAGTGGGACTATTGCCCTGACCGGAGCTGGGAACGGGAATGGCAC
AACCAGTCTGAGAAGGACAGTTATGGTTACATTTTCCTGAGCAACAAGGATGGGCTCCTG
GGTTCCAGATACAAGAAAGCTGTATTCAGGGAATACACTGATGGTACATTCAGGATCCCT
CGGCCAAGGACTGGACCAGAAGAACACTTGGGAATCTTGGGTCCACTTATCAAAGGTGAA
GTTGGTGATATCCTGACTGTGGTATTCAAGAATAATGCCAGCCGCCCCTACTCTGTGCAT
GCTCATGGAGTGCTAGAATCTACTACTGTCTGGCCACTGGCTGCTGAGCCTGGTGAGGTG
GTCACTTATCAGTGGAACATCCCAGAGAGGTCTGGCCCTGGGCCCAATGACTCTGCTTGT
GTTTCCTGGATCTATTATTCTGCAGTGGATCCCATCAAGGACATGTATAGTGGCCTGGTG
GGGCCCTTGGCTATCTGCCAAAAGGGCATCCTGGAGCCCCATGGAGGACGGAGTGACATG
GATCGGGAATTTGCATTGTTGTTCTTGATTTTTGATGAAAATAAGTCTTGGTATTTGGAG
GAAAATGTGGCAACCCATGGGTCCCAGGATCCAGGCAGTATTAACCTACAGGATGAAACT
TTCTTGGAGAGCAATAAAATGCATGCAATCAATGGGAAACTCTATGCCAACCTTAGGGGT
CTTACCATGTACCAAGGAGAACGAGTGGCCTGGTACATGCTGGCCATGGGCCAAGATGTG
GATCTACACACCATCCACTTTCATGCAGAGAGCTTCCTCTATCGGAATGGCGAGAACTAC
CGGGCAGATGTGGTGGATCTGTTCCCAGGGACTTTTGAGGTTGTGGAGATGGTGGCCAGC
AACCCTGGGACATGGCTGATGCACTGCCATGTGACTGACCATGTCCATGCTGGCATGGAG
ACCCTCTTCACTGTTTTTTCTCGAACAGAACACTTAAGCCCTCTCACCGTCATCACCAAA
GAGACTGAAAAAGTGCCCCCCAGAGACATTGAAGAAGGCAATGTGAAGATGCTGGGCATG
CAGATCCCCATAAAGAATGTTGAGATGCTGGCCTCTGTTTTGGTTGCCATTAGTGTCACC
CTTCTGCTCGTTGTTCTGGCTCTTGGTGGAGTGGTTTGGTACCAACATCGACAGAGAAAG
CTACGACGCAATAGGAGGTCCATCCTGGATGACAGCTTCAAGCTTCTGTCTTTCAAACAG
TAA
Chromosome Location
Not Available
Locus
Not Available
External Identifiers
ResourceLink
UniProtKB IDQ9BQS7
UniProtKB Entry NameHEPH_HUMAN
HGNC IDHGNC:4866
General References
  1. Syed BA, Beaumont NJ, Patel A, Naylor CE, Bayele HK, Joannou CL, Rowe PS, Evans RW, Srai SK: Analysis of the human hephaestin gene and protein: comparative modelling of the N-terminus ecto-domain based upon ceruloplasmin. Protein Eng. 2002 Mar;15(3):205-14. [Article]
  2. Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Genome Res. 2003 Oct;13(10):2265-70. Epub 2003 Sep 15. [Article]
  3. Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR: The DNA sequence of the human X chromosome. Nature. 2005 Mar 17;434(7031):325-37. [Article]
  4. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [Article]
  5. Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O: Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res. 1998 Jun 30;5(3):169-76. [Article]
  6. Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T: Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. DNA Res. 2002 Jun 30;9(3):99-106. [Article]
  7. Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S: Toward a comprehensive characterization of a human cancer cell phosphoproteome. J Proteome Res. 2013 Jan 4;12(1):260-71. doi: 10.1021/pr300630k. Epub 2012 Dec 18. [Article]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB09130Copperapproved, investigationalnobinderDetails
DB13257Ferrous sulfate anhydrousapprovedunknownsubstrateDetails