• Gene id: 341208

Gene Summary

• Gene Symbol: HEPHL1   Gene   UCSC   Ensembl
• Aliases: HJDD, ZP
• Gene name: hephaestin like 1
• Alternate names: ferroxidase HEPHL1, hephaestin-like protein 1,
• Gene location: 11q21 (94021353: 94114207)     Exons: 20     NC_000011.10

Protein Summary

• Protein general information: Q6MZM0  
  • Name: Ferroxidase HEPHL1 (EC 1.16.3.1) (Hephaestin like protein 1)
  • Length: 1159  
  • Mass: 131603
• Sequence:

  MPRKQPAGCIFLLTFLGLSGLVGTVTRTYYIGIVEEYWNYVPQGKNVITGKSFTEDKLATLFLERGPNRIGSIYK
  KAVYRRFTDGTYSIEIPKPPWLGFLGPILRAEVGDVIVIHLKNFASRPYSLHPHGVFYNKDSEGALYPDGTSGRN
  KNDDMVPPGKNYTYVWPVREEYAPTPADANCLTWVYHSHIDAPKDICSGLIGPLLVCKEGILNRYSGTRNDVDRE
  FVIMFTLVDENQSWYLNENIKHFCTNPDSVDKKDAVFQRSNKMHALNGYLFGNFPEPDMCVGESVSWHLFGMGNE
  IDIHSIYFYGNTFISRGHRTDVVNLFPATFLTTEMIAENPGKWMITCQVSDHLQAGMLGQYNVDNCKSDIFYPKM
  KGQQRRYFIAAEKILWDYAPQGYNKFSGLPLNASGSDSDLYFTQGDNRIGGKYWKVRYTEFVDATFTKRKRLSAE
  EAHLGILGPVIKAEVGDTLLVTFANKADKVYSILPHGVIYDKASDAAPNLDGFVKPGAHVKPGETFTYKWTVPES
  VSPTAGDPPCLTYLYFSAVDPIKDTSSGLVGPLLVCKKGVLNADGTQKGIDKEFYLLFTVFDENLSRYFDENIQK
  FIWHPFSIDKEDKEFVKSNRMHAVNGYMYGNQPGLNMCKRDRVSWHLIGLGTDTDMHGIVFQGNTIHLRGTHRDS
  LALFPHMATTAFMQPDHAGIFRVFCATMPHLSRGMGQIYEVSSCDNRDPSEQRYGMIRTFYIAAEEVEWDYAPNK
  NWEFEKQHVDARGERHGDIFMNRTENWIGSQYKKVVYREYTDGEFVEIKARPPREEHLELLGPMIHAEVGNTVLI
  IFKNKASRPYSISAQGVEEMDSGKQFQVPMTKPGEVKTYRWNIPKRSGPGPSDPNCIPWVYYSTVNFVKDTYSGL
  MGPLITCRKGVLNEKGRRSDVDYEFALLFLVFNENESWYLDDNIKKYLNKDPRDFKRTDDFEESNRMHAINGKIF
  GNLHGLIMNEDTMTNWYLLGIGSEVDIHTIHYHAESFLFKIDKSYREDVYDLFPGTFQTIELFADHPGTWLLHCH
  VSDHIHAGMETTYTVLRNIDNRIPYSTTSPGVASHPATVPSNERPGKEQLYFFGKNLGPTGAKAALVILFIIGLL
  LLITTVILSLRLCSAMKQTDYQQVQSCALPTDAL

• Structural information:
  • Protein Domains: (25..20-)
    (/note="Plastocyanin-like-1)
    (218..36-)
    (/note="Plastocyanin-like-2)
    (379..56-)
    (/note="Plastocyanin-like-3)
    (571..71-)
    (/note="Plastocyanin-like-4)
    (731..90-)
    (/note="Plastocyanin-like-5)
    (915..109-)
    (/n-)
  • Interpro: IPR011706  IPR011707  IPR033138  IPR002355  IPR008972  
  • Prosite: PS00079 PS00080
  • STRING: ENSP00000313699
• Other Databases: GeneCards:  HEPHL1  Malacards:  HEPHL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006826	iron ion transport	IBA	biological process
GO:0004322	ferroxidase activity	IBA	molecular function
GO:0055072	iron ion homeostasis	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0004322	ferroxidase activity	IDA	molecular function
GO:0006879	cellular iron ion homeostasis	IMP	biological process
GO:0005507	copper ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006825	copper ion transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0004322	ferroxidase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IC	biological process
GO:0004322	ferroxidase activity	IDA	molecular function
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq