HEPH (hephaestin)

Gene

• Entrez ID: 9843
• Gene name: Hephaestin
• Gene symbol: HEPH
• Synonyms: CPL, Hp
• Chromosome: X
• Chromosome location: Xq12
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT526182	hsa-miR-548c-3p	PAR-CLIP	22012620
MIRT526181	hsa-miR-449b-3p	PAR-CLIP	22012620
MIRT526180	hsa-miR-3613-3p	PAR-CLIP	22012620
MIRT526178	hsa-miR-4786-3p	PAR-CLIP	22012620
MIRT526179	hsa-miR-873-3p	PAR-CLIP	22012620
MIRT526182	hsa-miR-548c-3p	PAR-CLIP	22012620
MIRT526181	hsa-miR-449b-3p	PAR-CLIP	22012620
MIRT526180	hsa-miR-3613-3p	PAR-CLIP	22012620
MIRT526178	hsa-miR-4786-3p	PAR-CLIP	22012620
MIRT526179	hsa-miR-873-3p	PAR-CLIP	22012620
MIRT1044241	hsa-miR-3192	CLIP-seq
MIRT1044242	hsa-miR-370	CLIP-seq
MIRT1044243	hsa-miR-4731-5p	CLIP-seq
MIRT2009607	hsa-miR-4698	CLIP-seq
MIRT2545580	hsa-miR-1200	CLIP-seq
MIRT2545581	hsa-miR-1244	CLIP-seq
MIRT2545582	hsa-miR-1270	CLIP-seq
MIRT2545583	hsa-miR-1273d	CLIP-seq
MIRT2545584	hsa-miR-146a	CLIP-seq
MIRT2545585	hsa-miR-146b-5p	CLIP-seq
MIRT2545586	hsa-miR-28-5p	CLIP-seq
MIRT2545587	hsa-miR-3064-3p	CLIP-seq
MIRT2545588	hsa-miR-3074-5p	CLIP-seq
MIRT2545589	hsa-miR-3119	CLIP-seq
MIRT2545590	hsa-miR-3124-3p	CLIP-seq
MIRT2545591	hsa-miR-3139	CLIP-seq
MIRT2545592	hsa-miR-3150b-3p	CLIP-seq
MIRT2545593	hsa-miR-323b-3p	CLIP-seq
MIRT2545594	hsa-miR-3609	CLIP-seq
MIRT2545595	hsa-miR-3613-5p	CLIP-seq
MIRT2545596	hsa-miR-3614-3p	CLIP-seq
MIRT2545597	hsa-miR-3614-5p	CLIP-seq
MIRT2545598	hsa-miR-3653	CLIP-seq
MIRT2545599	hsa-miR-3658	CLIP-seq
MIRT2545600	hsa-miR-3973	CLIP-seq
MIRT2545601	hsa-miR-4257	CLIP-seq
MIRT2545602	hsa-miR-4277	CLIP-seq
MIRT2545603	hsa-miR-432	CLIP-seq
MIRT2545604	hsa-miR-4320	CLIP-seq
MIRT2545605	hsa-miR-4324	CLIP-seq
MIRT2545606	hsa-miR-4420	CLIP-seq
MIRT2545607	hsa-miR-4428	CLIP-seq
MIRT2545608	hsa-miR-4434	CLIP-seq
MIRT2545609	hsa-miR-4480	CLIP-seq
MIRT2545610	hsa-miR-4511	CLIP-seq
MIRT2545611	hsa-miR-4516	CLIP-seq
MIRT2545612	hsa-miR-4531	CLIP-seq
MIRT2545613	hsa-miR-4689	CLIP-seq
MIRT2009607	hsa-miR-4698	CLIP-seq
MIRT2545614	hsa-miR-4724-3p	CLIP-seq
MIRT2545615	hsa-miR-4757-5p	CLIP-seq
MIRT2545616	hsa-miR-4778-3p	CLIP-seq
MIRT2545617	hsa-miR-4784	CLIP-seq
MIRT2545618	hsa-miR-510	CLIP-seq
MIRT2545619	hsa-miR-512-5p	CLIP-seq
MIRT2545620	hsa-miR-513a-3p	CLIP-seq
MIRT2545621	hsa-miR-520a-5p	CLIP-seq
MIRT2545622	hsa-miR-520g	CLIP-seq
MIRT2545623	hsa-miR-520h	CLIP-seq
MIRT2545624	hsa-miR-525-5p	CLIP-seq
MIRT2545625	hsa-miR-544b	CLIP-seq
MIRT2545626	hsa-miR-548ah	CLIP-seq
MIRT2545627	hsa-miR-548b-3p	CLIP-seq
MIRT2545628	hsa-miR-595	CLIP-seq
MIRT2545629	hsa-miR-620	CLIP-seq
MIRT2545630	hsa-miR-660	CLIP-seq
MIRT2545631	hsa-miR-708	CLIP-seq
MIRT2545632	hsa-miR-885-3p	CLIP-seq
MIRT2545633	hsa-miR-890	CLIP-seq
MIRT2545634	hsa-miR-892b	CLIP-seq
MIRT2545580	hsa-miR-1200	CLIP-seq
MIRT2545581	hsa-miR-1244	CLIP-seq
MIRT2545582	hsa-miR-1270	CLIP-seq
MIRT2545583	hsa-miR-1273d	CLIP-seq
MIRT2545584	hsa-miR-146a	CLIP-seq
MIRT2545585	hsa-miR-146b-5p	CLIP-seq
MIRT2545586	hsa-miR-28-5p	CLIP-seq
MIRT2545587	hsa-miR-3064-3p	CLIP-seq
MIRT2545588	hsa-miR-3074-5p	CLIP-seq
MIRT2545589	hsa-miR-3119	CLIP-seq
MIRT2545590	hsa-miR-3124-3p	CLIP-seq
MIRT2545591	hsa-miR-3139	CLIP-seq
MIRT2545592	hsa-miR-3150b-3p	CLIP-seq
MIRT2545593	hsa-miR-323b-3p	CLIP-seq
MIRT2545594	hsa-miR-3609	CLIP-seq
MIRT2545595	hsa-miR-3613-5p	CLIP-seq
MIRT2545596	hsa-miR-3614-3p	CLIP-seq
MIRT2545597	hsa-miR-3614-5p	CLIP-seq
MIRT2545598	hsa-miR-3653	CLIP-seq
MIRT2545599	hsa-miR-3658	CLIP-seq
MIRT2545600	hsa-miR-3973	CLIP-seq
MIRT2545601	hsa-miR-4257	CLIP-seq
MIRT2545602	hsa-miR-4277	CLIP-seq
MIRT2545603	hsa-miR-432	CLIP-seq
MIRT2545604	hsa-miR-4320	CLIP-seq
MIRT2545605	hsa-miR-4324	CLIP-seq
MIRT2545606	hsa-miR-4420	CLIP-seq
MIRT2545607	hsa-miR-4428	CLIP-seq
MIRT2545608	hsa-miR-4434	CLIP-seq
MIRT2545609	hsa-miR-4480	CLIP-seq
MIRT2545610	hsa-miR-4511	CLIP-seq
MIRT2545611	hsa-miR-4516	CLIP-seq
MIRT2545612	hsa-miR-4531	CLIP-seq
MIRT2545613	hsa-miR-4689	CLIP-seq
MIRT2009607	hsa-miR-4698	CLIP-seq
MIRT2545614	hsa-miR-4724-3p	CLIP-seq
MIRT2545615	hsa-miR-4757-5p	CLIP-seq
MIRT2545616	hsa-miR-4778-3p	CLIP-seq
MIRT2545617	hsa-miR-4784	CLIP-seq
MIRT2545618	hsa-miR-510	CLIP-seq
MIRT2545619	hsa-miR-512-5p	CLIP-seq
MIRT2545620	hsa-miR-513a-3p	CLIP-seq
MIRT2545621	hsa-miR-520a-5p	CLIP-seq
MIRT2545622	hsa-miR-520g	CLIP-seq
MIRT2545623	hsa-miR-520h	CLIP-seq
MIRT2545624	hsa-miR-525-5p	CLIP-seq
MIRT2545625	hsa-miR-544b	CLIP-seq
MIRT2545626	hsa-miR-548ah	CLIP-seq
MIRT2545627	hsa-miR-548b-3p	CLIP-seq
MIRT2545628	hsa-miR-595	CLIP-seq
MIRT2545629	hsa-miR-620	CLIP-seq
MIRT2545630	hsa-miR-660	CLIP-seq
MIRT2545631	hsa-miR-708	CLIP-seq
MIRT2545632	hsa-miR-885-3p	CLIP-seq
MIRT2545633	hsa-miR-890	CLIP-seq
MIRT2545634	hsa-miR-892b	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CDX2	Activation	15825077

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004322	Function	Ferroxidase activity	IBA	21873635
GO:0004322	Function	Ferroxidase activity	IMP	22961397
GO:0005507	Function	Copper ion binding	IMP	22961397
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0006825	Process	Copper ion transport	IEA
GO:0006826	Process	Iron ion transport	IBA	21873635
GO:0006826	Process	Iron ion transport	IMP	22961397
GO:0006879	Process	Cellular iron ion homeostasis	TAS
GO:0008198	Function	Ferrous iron binding	IMP	22961397
GO:0016021	Component	Integral component of membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	20019163
GO:0016491	Function	Oxidoreductase activity	IBA	21873635
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0055072	Process	Iron ion homeostasis	IBA	21873635

Other IDs

• MIM: 300167
• HGNC: 4866
• e!Ensembl: ENSG00000089472

Protein

• UniProt ID: Q9BQS7
• Protein name: Hephaestin (Hp) (EC 1.16.3.1)
• Protein function: Plasma membrane ferroxidase that mediates the extracellular conversion of ferrous/Fe(2+) iron into its ferric/Fe(3+) form. Couples ferroportin which specifically exports ferrous/Fe(2+) iron from cells to transferrin that only binds and shuttles
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07732	Cu-oxidase_3	80 → 209	Multicopper oxidase	Domain
  PF07732	Cu-oxidase_3	452 → 563	Multicopper oxidase	Domain
  PF07732	Cu-oxidase_3	807 → 906	Multicopper oxidase	Domain
  PF07731	Cu-oxidase_2	943 → 1065	Multicopper oxidase	Domain

• Sequence:

  MESGHLLWALLFMQSLWPQLTDGATRVYYLGIRDVQWNYAPKGRNVITNQPLDSDIVASS
  FLKSDKNRIGGTYKKTIYKEYKDDSYTDEVAQPAWLGFLGPVLQAEVGDVILIHLKNFAT
  RPYTIHPHGVFYEKDSEGSLYPDGSSGPLKADDSVPPGGSHIYNWTIPEGHAPTDADPAC
  LTWIYHSHVDAPRDIATGLIGPLITCKRGALDGNSPPQRQDVDHDFFLLFSVVDENLSWH
  LNENIATYCSDPASVDKEDETFQESNRMHAINGFVFGNLPELNMCAQKRVAWHLFGMGNE
  IDVHTAFFHGQMLTTRGHHTDVANIFPATFVTAEMVPWEPGTWLISCQVNSHFRDGMQAL
  YKVKSCSMAPPVDLLTGKVRQYFIEAHEIQWDYGPMGHDGSTGKNLREPGSISDKFFQKS
  SSRIGGTYWKVRYEAFQDETFQEKMHLEEDRHLGILGPVIRAEVGDTIQVVFYNRASQPF
  SMQPHGVFYEKDYEGTVYNDGSSYPGLVAKPFEKVTYRWTVPPHAGPTAQDPACLTWMYF
  SAADPIRDTNSGLVGPLLVCRAGALGADGKQKGVDKEFFLLFTVLDENKSWYSNANQAAA
  MLDFRLLSEDIEGFQDSNRMHAINGFLFSNLPRLDMCKGDTVAWHLLGLGTETDVHGVMF
  QGNTVQLQGMRKGAAMLFPHTFVMAIMQPDNLGTFEIYCQAGSHREAGMRAIYNVSQCPG
  HQATPRQRYQAARIYYIMAEEVEWDYCPDRSWEREWHNQSEKDSYGYIFLSNKDGLLGSR
  YKKAVFREYTDGTFRIPRPRTGPEEHLGILGPLIKGEVGDILTVVFKNNASRPYSVHAHG
  VLESTTVWPLAAEPGEVVTYQWNIPERSGPGPNDSACVSWIYYSAVDPIKDMYSGLVGPL
  AICQKGILEPHGGRSDMDREFALLFLIFDENKSWYLEENVATHGSQDPGSINLQDETFLE
  SNKMHAINGKLYANLRGLTMYQGERVAWYMLAMGQDVDLHTIHFHAESFLYRNGENYRAD
  VVDLFPGTFEVVEMVASNPGTWLMHCHVTDHVHAGMETLFTVFSRTEHLSPLTVITKETE
  KAVPPRDIEEGNVKMLGMQIPIKNVEMLASVLVAISVTLLLVVLALGGVVWYQHRQRKLR
  RNRRSILDDSFKLLSFKQ

• Sequence length: 1158

Pathways

KEGG:

Porphyrin metabolism
Hormone signaling
Mineral absorption

Reactome:

Metal ion SLC transporters
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum)
Iron uptake and transport

Associated diseases

Unknown
Disease name	Disease term	dbSNP ID	References
Alopecia, male pattern	Alopecia, Male Pattern		22693459
Malignant mesothelioma	Malignant mesothelioma		26818092