Hephaestin

HEPH
Identifiers
Aliases	HEPH, CPL, hephaestin, Hephaestin
External IDs	OMIM: 300167; MGI: 1332240; HomoloGene: 32094; GeneCards: HEPH; OMA:HEPH - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	66,268,867 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	95,618,091 bp
RNA expression pattern
	Top expressed in
	jejunal mucosa; ; mucosa of sigmoid colon; ; mucosa of ileum; ; rectum; ; duodenum; ; transverse colon; ; Descending thoracic aorta; ; optic nerve; ; mucosa of transverse colon; ; smooth muscle tissue;
	Top expressed in
	ileum; ; left colon; ; epithelium of small intestine; ; jejunum; ; molar; ; seminal vesicula; ; vas deferens; ; intestinal villus; ; duodenum; ; migratory enteric neural crest cell;
	More reference expression data
	n/a
Gene ontology
Molecular function	oxidoreductase activity; ferrous iron binding; copper ion binding; metal ion binding; ferroxidase activity; oxidoreductase activity, acting on metal ions;
Cellular component	perinuclear region of cytoplasm; integral component of membrane; plasma membrane; basolateral plasma membrane; intracellular anatomical structure; membrane; extracellular space;
Biological process	copper ion transport; iron ion homeostasis; iron ion transport; ion transport; cellular iron ion homeostasis;
	Sources:Amigo / QuickGO
Orthologs
	9843
	15203
	ENSG00000089472
	ENSMUSG00000031209
	Q9BQS7
	Q9Z0Z4
	NM_001130860; NM_001282141; NM_014799; NM_138737
	NM_001159627; NM_001159628; NM_010417; NM_181273
NP_001124332; NP_001269070; NP_055614; NP_620074; NP_001354161;
	NP_001354162; NP_001354163; NP_001354165; NP_001354167; NP_001354168; NP_001354169; NP_001354170; NP_001354171; NP_001354172
	NP_001153099; NP_001153100; NP_034547; NP_851790
	Wikidata
View/Edit Human	View/Edit Mouse

Hephaestin, also known as HEPH, is a protein which in humans is encoded by the HEPH gene.^[5]^[6]^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000089472 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031209 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (June 1998). "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. 5 (3): 169–76. doi:10.1093/dnares/5.3.169. PMID 9734811.
^ Vulpe CD, Kuo YM, Murphy TL, Cowley L, Askwith C, Libina N, Gitschier J, Anderson GJ (February 1999). "Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse". Nat. Genet. 21 (2): 195–9. doi:10.1038/5979. PMID 9988272. S2CID 25530044.
^ "Entrez Gene: Hephaestin".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000089472 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000031209 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9734811-5] Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (June 1998). "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. 5 (3): 169–76. doi:10.1093/dnares/5.3.169. PMID 9734811.

[pmid9988272-6] Vulpe CD, Kuo YM, Murphy TL, Cowley L, Askwith C, Libina N, Gitschier J, Anderson GJ (February 1999). "Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse". Nat. Genet. 21 (2): 195–9. doi:10.1038/5979. PMID 9988272. S2CID 25530044.

[entrez-7] "Entrez Gene: Hephaestin".

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