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HEPH [plasma membrane]
Stable Identifier
R-HSA-904820
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Hephaestin, HEPH_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum) (Homo sapiens)
Defective SLC40A1 does not transport Fe3+ from extracellular region to cytosol (Homo sapiens)
HEPH:6xCu2+:SLC40A1 mutants [plasma membrane] (Homo sapiens)
HEPH [plasma membrane] (Homo sapiens)
Transport of small molecules (Homo sapiens)
Iron uptake and transport (Homo sapiens)
SLC40A1:HEPH:6Cu2+ oxidises 4Fe2+ to 4Fe3+ (Homo sapiens)
SLC40A1:HEPH:6Cu2+ [plasma membrane] (Homo sapiens)
HEPH [plasma membrane] (Homo sapiens)
SLC40A1:HEPH:6Cu2+ transports Fe2+ from cytosol to extracellular region (Homo sapiens)
SLC40A1:HEPH:6Cu2+ [plasma membrane] (Homo sapiens)
HEPH [plasma membrane] (Homo sapiens)
SLC-mediated transmembrane transport (Homo sapiens)
Transport of bile salts and organic acids, metal ions and amine compounds (Homo sapiens)
Metal ion SLC transporters (Homo sapiens)
SLC40A1:HEPH:6Cu2+ transports Fe2+ from cytosol to extracellular region (Homo sapiens)
SLC40A1:HEPH:6Cu2+ [plasma membrane] (Homo sapiens)
HEPH [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q9BQS7 HEPH
Gene Names
HEPH, KIAA0698, UNQ2562/PRO6242
Chain
signal peptide:1-23, chain:24-1158
Reference Genes
BioGPS Gene:9843 HEPH
COSMIC (genes):HEPH HEPH
CTD Gene:9843 HEPH
dbSNP Gene:9843 HEPH
ENSEMBL:ENSG00000089472.18 HEPH
HGNC:4866 HEPH
KEGG Gene (Homo sapiens):9843 HEPH
Monarch:9843 HEPH
NCBI Gene:9843 HEPH
OMIM:300167 HEPH
UCSC:Q9BQS7 HEPH
Reference Transcript
RefSeq:NM_138737.4 HEPH
RefSeq:NM_001282141.1 HEPH
RefSeq:XM_006724722.1 HEPH
RefSeq:NM_014799.3 HEPH
RefSeq:NM_001130860.3 HEPH
Other Identifiers
11718153_a_at
11718154_a_at
17104283
203902_PM_at
203902_at
203903_PM_s_at
203903_s_at
35644_at
3979763
3979764
3979766
3979767
3979768
3979769
3979771
3979772
3979773
3979774
3979775
3979777
3979778
3979779
3979780
3979781
3979782
3979783
3979784
3979789
3979792
3979795
3979796
3979797
3979798
3979800
3979801
3979802
3979803
3979804
8167973
9843
A_23_P22526
A_24_P399980
GE53398
GO:0003824
GO:0004322
GO:0005507
GO:0005886
GO:0006811
GO:0006825
GO:0006826
GO:0006879
GO:0008198
GO:0016020
GO:0016323
GO:0016491
GO:0046872
GO:0048471
GO:0055065
GO:0055072
HMNXSV003021976
Hs.31720.0.S2_3p_at
ILMN_1663683
ILMN_1714523
PH_hs_0002694
TC0X000357.hg
TC0X001747.hg
g7662253_3p_a_at
Participates
as a component of
HEPH:6xCu2+:SLC40A1 mutants [plasma membrane] (Homo sapiens)
SLC40A1:HEPH:6Cu2+ [plasma membrane] (Homo sapiens)
Inferred To
HEPH [plasma membrane]
(Bos taurus)
HEPH [plasma membrane]
(Caenorhabditis elegans)
HEPH [plasma membrane]
(Canis familiaris)
HEPH [plasma membrane]
(Gallus gallus)
HEPH [plasma membrane]
(Mus musculus)
HEPH [plasma membrane]
(Rattus norvegicus)
HEPH [plasma membrane]
(Sus scrofa)
Cross References
RefSeq
NP_001269070.1
,
NP_001124332.1
,
XP_006724785.1
,
NP_620074.3
,
NP_055614.1
OpenTargets
ENSG00000089472
GeneCards
Q9BQS7
HPA
ENSG00000089472-HEPH
Ensembl
ENSP00000343939
,
ENSG00000089472
,
ENST00000519389
,
ENSP00000337418
,
ENSP00000430620
,
ENST00000343002
,
ENST00000336279
,
ENSP00000411687
,
ENST00000441993
PRO
Q9BQS7
Pharos - Targets
Q9BQS7
HMDB Protein
HMDBP08247
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