Details of the Target

General Information of Target

Target ID LDTP11093
Target Name Hephaestin (HEPH)
Gene Name HEPH
Gene ID 9843
Synonyms
KIAA0698; Hephaestin; EC 1.-.-.-
3D Structure
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2D Sequence (FASTA)
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3D Structure (PDB)
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Sequence
MAEQLALVIGGTIGGLLLLLLIGASCCLWRRFCATLTYEELPGTPAMATTAASSGQRDRP
CQPHARTQLSRPPAVPFVVPPTLQGRDWVPLHSGEWADAPWDPCPASELLPHTSSGGLGD
ACMVGAINPELYKFPEDKSETDFPDGCLGRLWFSVEYEQEAERLLVGLIKAQHLQAPSET
CSPLVKLYLLPDERRFLQSKTKRKTSNPQFDEHFIFQVSSKTITQRVLKFSVYHVDRQRK
HQLLGQVLFPLKNETLVGDCRRVIWRDLEAESLEPPSEFGDLQFCLSYNDYLSRLTVVVL
RAKGLRLQEDRGIVSVFVKVSLMNHNKFVKCKKTSAVLGSINPVYNETFSFKADATELDT
ASLSLTVVQNMEGDKSQQLGRVVVGPYMYTRGRELEHWDEMLSKPKELVKRWHALCRTTE
P
Target Bioclass
Enzyme
Family
Multicopper oxidase family
Subcellular location
Membrane
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.
Uniprot ID
Q9BQS7
Ensemble ID
ENST00000336279.9
HGNC ID
HGNC:4866

Target Site Mutations in Different Cell Lines

Cell line Mutation details Probe for labeling this protein in this cell
AU565 SNV: p.P395R .
COLO792 SNV: p.G198D .
COLO800 SNV: p.G108E .
EFO27 SNV: p.T467I; p.S1150N .
FADU SNV: p.P1039H .
FUOV1 SNV: p.S64C .
HCC15 SNV: p.I623T .
HGC27 SNV: p.P719H .
IGROV1 SNV: p.G425E; p.G555D; p.L953I .
J82 SNV: p.A306E .
MCC13 SNV: p.A9V .
MEWO SNV: p.F786V .
NCIH2122 Substitution: p.G702F .
NCIH2172 SNV: p.R354L .
NCIH23 SNV: p.N588S .
RL952 SNV: p.G201W; p.D492E .
RVH421 SNV: p.Q478K .
SHSY5Y SNV: p.H1068Q .
SKMEL24 SNV: p.F1025Y .

Probe(s) Labeling This Target

ABPP Probe
Click To Hide/Show 1 Probe Related to This Target
Probe name Structure Binding Site(Ratio) Interaction ID Ref
IA-alkyne
 Probe Info  		C718(10.00)  LDD2157  [1]

The Interaction Atlas With This Target

The Protein(s) Related To This Target

Enzyme
Click To Hide/Show 1 Protein(s) Interacting with This Target
Protein name Family Uniprot ID
Glutaredoxin-3 (GLRX3) . O76003

The Drug(s) Related To This Target

Approved
Click To Hide/Show 2 Drug(s) Interacting with This Target
Drug Name Drug Type External ID
Copper . DB09130
Ferrous Sulfate Anhydrous . DB13257

References

1 From chemoproteomic-detected amino acids to genomic coordinates: insights into precise multi-omic data integration. Mol Syst Biol. 2021 Feb;17(2):e9840. doi: 10.15252/msb.20209840.
Mass spectrometry data entry: PXD022151