• Gene id: 9843

Gene Summary

• Gene Symbol: HEPH   Gene   UCSC   Ensembl
• Aliases: CPL
• Gene name: hephaestin
• Alternate names: hephaestin,
• Gene location: Xq12 (66162525: 66268862)     Exons: 4     NC_000023.11
• Gene summary(Entrez): This gene encodes a member of the multicopper oxidase protein family. The encoded protein is involved in the transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system, and may be involved in copper transport and h
• OMIM: 300167

Protein Summary

• Protein general information: Q9BQS7  
  • Name: Hephaestin (EC 1. . . )
  • Length: 1158  
  • Mass: 130449
  • Tissue specificity: Detected in breast, colon, bone trabecular cells and fibroblasts.
• Sequence:

  MESGHLLWALLFMQSLWPQLTDGATRVYYLGIRDVQWNYAPKGRNVITNQPLDSDIVASSFLKSDKNRIGGTYKK
  TIYKEYKDDSYTDEVAQPAWLGFLGPVLQAEVGDVILIHLKNFATRPYTIHPHGVFYEKDSEGSLYPDGSSGPLK
  ADDSVPPGGSHIYNWTIPEGHAPTDADPACLTWIYHSHVDAPRDIATGLIGPLITCKRGALDGNSPPQRQDVDHD
  FFLLFSVVDENLSWHLNENIATYCSDPASVDKEDETFQESNRMHAINGFVFGNLPELNMCAQKRVAWHLFGMGNE
  IDVHTAFFHGQMLTTRGHHTDVANIFPATFVTAEMVPWEPGTWLISCQVNSHFRDGMQALYKVKSCSMAPPVDLL
  TGKVRQYFIEAHEIQWDYGPMGHDGSTGKNLREPGSISDKFFQKSSSRIGGTYWKVRYEAFQDETFQEKMHLEED
  RHLGILGPVIRAEVGDTIQVVFYNRASQPFSMQPHGVFYEKDYEGTVYNDGSSYPGLVAKPFEKVTYRWTVPPHA
  GPTAQDPACLTWMYFSAADPIRDTNSGLVGPLLVCRAGALGADGKQKGVDKEFFLLFTVLDENKSWYSNANQAAA
  MLDFRLLSEDIEGFQDSNRMHAINGFLFSNLPRLDMCKGDTVAWHLLGLGTETDVHGVMFQGNTVQLQGMRKGAA
  MLFPHTFVMAIMQPDNLGTFEIYCQAGSHREAGMRAIYNVSQCPGHQATPRQRYQAARIYYIMAEEVEWDYCPDR
  SWEREWHNQSEKDSYGYIFLSNKDGLLGSRYKKAVFREYTDGTFRIPRPRTGPEEHLGILGPLIKGEVGDILTVV
  FKNNASRPYSVHAHGVLESTTVWPLAAEPGEVVTYQWNIPERSGPGPNDSACVSWIYYSAVDPIKDMYSGLVGPL
  AICQKGILEPHGGRSDMDREFALLFLIFDENKSWYLEENVATHGSQDPGSINLQDETFLESNKMHAINGKLYANL
  RGLTMYQGERVAWYMLAMGQDVDLHTIHFHAESFLYRNGENYRADVVDLFPGTFEVVEMVASNPGTWLMHCHVTD
  HVHAGMETLFTVFSRTEHLSPLTVITKETEKAVPPRDIEEGNVKMLGMQIPIKNVEMLASVLVAISVTLLLVVLA
  LGGVVWYQHRQRKLRRNRRSILDDSFKLLSFKQ

• Structural information:
  • Protein Domains: (24..20-)
    (/note="Plastocyanin-like-1)
    (218..36-)
    (/note="Plastocyanin-like-2)
    (379..56-)
    (/note="Plastocyanin-like-3)
    (570..71-)
    (/note="Plastocyanin-like-4)
    (731..90-)
    (/note="Plastocyanin-like-5)
    (911..108-)
    (/n-)
  • Interpro: IPR011706  IPR011707  IPR033138  IPR002355  IPR008972   IPR027154  
  • Prosite: PS00079 PS00080
  • STRING: ENSP00000430620
• Other Databases: GeneCards:  HEPH  Malacards:  HEPH

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:0005507	copper ion binding	IEA	molecular function
GO:0006826	iron ion transport	IEA	biological process
GO:0006879	cellular iron ion homeostasis	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006825	copper ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0055072	iron ion homeostasis	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006879	cellular iron ion homeostasis	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0008198	ferrous iron binding	IMP	molecular function
GO:0004322	ferroxidase activity	IMP	molecular function
GO:0006826	iron ion transport	IMP	biological process
GO:0005507	copper ion binding	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04978	Mineral absorption
hsa00860	Porphyrin and chlorophyll metabolism

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray