Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	341208
Gene name	Hephaestin like 1
Gene symbol	HEPHL1
Synonyms (NCBI Gene)	HJDDZP
Chromosome	11
Chromosome location	11q21

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs199856193	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs774463623	G>A	Pathogenic	Coding sequence variant, missense variant

142

Show/Hide all (142)

miRTarBase ID	miRNA	Experiments	Reference
MIRT647871	hsa-miR-8063	HITS-CLIP	23824327
MIRT647870	hsa-miR-4698	HITS-CLIP	23824327
MIRT647869	hsa-miR-223-5p	HITS-CLIP	23824327
MIRT647868	hsa-miR-203a-3p	HITS-CLIP	23824327
MIRT647867	hsa-miR-2113	HITS-CLIP	23824327
MIRT647866	hsa-miR-5010-3p	HITS-CLIP	23824327
MIRT647871	hsa-miR-8063	HITS-CLIP	23824327
MIRT647870	hsa-miR-4698	HITS-CLIP	23824327
MIRT647869	hsa-miR-223-5p	HITS-CLIP	23824327
MIRT647868	hsa-miR-203a-3p	HITS-CLIP	23824327
MIRT647867	hsa-miR-2113	HITS-CLIP	23824327
MIRT647866	hsa-miR-5010-3p	HITS-CLIP	23824327
MIRT536923	hsa-miR-6508-5p	PAR-CLIP	22012620
MIRT536922	hsa-miR-8067	PAR-CLIP	22012620
MIRT536921	hsa-miR-518d-5p	PAR-CLIP	22012620
MIRT536920	hsa-miR-518e-5p	PAR-CLIP	22012620
MIRT536919	hsa-miR-518f-5p	PAR-CLIP	22012620
MIRT536918	hsa-miR-519a-5p	PAR-CLIP	22012620
MIRT536917	hsa-miR-519b-5p	PAR-CLIP	22012620
MIRT536916	hsa-miR-519c-5p	PAR-CLIP	22012620
MIRT536915	hsa-miR-520c-5p	PAR-CLIP	22012620
MIRT536914	hsa-miR-522-5p	PAR-CLIP	22012620
MIRT536913	hsa-miR-523-5p	PAR-CLIP	22012620
MIRT536912	hsa-miR-526a	PAR-CLIP	22012620
MIRT536911	hsa-miR-4777-5p	PAR-CLIP	22012620
MIRT536900	hsa-miR-124-3p	PAR-CLIP	22012620
MIRT536910	hsa-miR-3714	PAR-CLIP	22012620
MIRT536909	hsa-miR-3910	PAR-CLIP	22012620
MIRT536908	hsa-miR-181a-5p	PAR-CLIP	22012620
MIRT536907	hsa-miR-181b-5p	PAR-CLIP	22012620
MIRT536906	hsa-miR-181c-5p	PAR-CLIP	22012620
MIRT536905	hsa-miR-181d-5p	PAR-CLIP	22012620
MIRT536904	hsa-miR-4262	PAR-CLIP	22012620
MIRT536903	hsa-miR-3680-5p	PAR-CLIP	22012620
MIRT536902	hsa-miR-1273g-3p	PAR-CLIP	22012620
MIRT536901	hsa-miR-668-3p	PAR-CLIP	22012620
MIRT536900	hsa-miR-124-3p	PAR-CLIP	22012620
MIRT536899	hsa-miR-506-3p	PAR-CLIP	22012620
MIRT536898	hsa-miR-5591-3p	PAR-CLIP	22012620
MIRT536897	hsa-miR-3671	PAR-CLIP	22012620
MIRT536896	hsa-miR-489-3p	PAR-CLIP	22012620
MIRT536895	hsa-miR-4639-5p	PAR-CLIP	22012620
MIRT536894	hsa-miR-607	PAR-CLIP	22012620
MIRT536893	hsa-miR-514a-3p	PAR-CLIP	22012620
MIRT536892	hsa-miR-514b-3p	PAR-CLIP	22012620
MIRT647871	hsa-miR-8063	HITS-CLIP	23824327
MIRT647870	hsa-miR-4698	HITS-CLIP	23824327
MIRT647869	hsa-miR-223-5p	HITS-CLIP	23824327
MIRT647868	hsa-miR-203a-3p	HITS-CLIP	23824327
MIRT647867	hsa-miR-2113	HITS-CLIP	23824327
MIRT647866	hsa-miR-5010-3p	HITS-CLIP	23824327
MIRT647871	hsa-miR-8063	HITS-CLIP	23824327
MIRT647870	hsa-miR-4698	HITS-CLIP	23824327
MIRT647869	hsa-miR-223-5p	HITS-CLIP	23824327
MIRT647868	hsa-miR-203a-3p	HITS-CLIP	23824327
MIRT647867	hsa-miR-2113	HITS-CLIP	23824327
MIRT647866	hsa-miR-5010-3p	HITS-CLIP	23824327
MIRT536923	hsa-miR-6508-5p	PAR-CLIP	22012620
MIRT536922	hsa-miR-8067	PAR-CLIP	22012620
MIRT536921	hsa-miR-518d-5p	PAR-CLIP	22012620
MIRT536920	hsa-miR-518e-5p	PAR-CLIP	22012620
MIRT536919	hsa-miR-518f-5p	PAR-CLIP	22012620
MIRT536918	hsa-miR-519a-5p	PAR-CLIP	22012620
MIRT536917	hsa-miR-519b-5p	PAR-CLIP	22012620
MIRT536916	hsa-miR-519c-5p	PAR-CLIP	22012620
MIRT536915	hsa-miR-520c-5p	PAR-CLIP	22012620
MIRT536914	hsa-miR-522-5p	PAR-CLIP	22012620
MIRT536913	hsa-miR-523-5p	PAR-CLIP	22012620
MIRT536912	hsa-miR-526a	PAR-CLIP	22012620
MIRT536911	hsa-miR-4777-5p	PAR-CLIP	22012620
MIRT536900	hsa-miR-124-3p	PAR-CLIP	22012620
MIRT536910	hsa-miR-3714	PAR-CLIP	22012620
MIRT536909	hsa-miR-3910	PAR-CLIP	22012620
MIRT536908	hsa-miR-181a-5p	PAR-CLIP	22012620
MIRT536907	hsa-miR-181b-5p	PAR-CLIP	22012620
MIRT536906	hsa-miR-181c-5p	PAR-CLIP	22012620
MIRT536905	hsa-miR-181d-5p	PAR-CLIP	22012620
MIRT536904	hsa-miR-4262	PAR-CLIP	22012620
MIRT536903	hsa-miR-3680-5p	PAR-CLIP	22012620
MIRT536902	hsa-miR-1273g-3p	PAR-CLIP	22012620
MIRT536901	hsa-miR-668-3p	PAR-CLIP	22012620
MIRT536900	hsa-miR-124-3p	PAR-CLIP	22012620
MIRT536899	hsa-miR-506-3p	PAR-CLIP	22012620
MIRT536898	hsa-miR-5591-3p	PAR-CLIP	22012620
MIRT536897	hsa-miR-3671	PAR-CLIP	22012620
MIRT536896	hsa-miR-489-3p	PAR-CLIP	22012620
MIRT536895	hsa-miR-4639-5p	PAR-CLIP	22012620
MIRT536894	hsa-miR-607	PAR-CLIP	22012620
MIRT536893	hsa-miR-514a-3p	PAR-CLIP	22012620
MIRT536892	hsa-miR-514b-3p	PAR-CLIP	22012620
MIRT1044244	hsa-miR-1179	CLIP-seq
MIRT1044245	hsa-miR-1208	CLIP-seq
MIRT1044246	hsa-miR-1224-5p	CLIP-seq
MIRT1044247	hsa-miR-1256	CLIP-seq
MIRT1044248	hsa-miR-1304	CLIP-seq
MIRT1044249	hsa-miR-1305	CLIP-seq
MIRT1044250	hsa-miR-299-5p	CLIP-seq
MIRT1044251	hsa-miR-320a	CLIP-seq
MIRT1044252	hsa-miR-320b	CLIP-seq
MIRT1044253	hsa-miR-320c	CLIP-seq
MIRT1044254	hsa-miR-320d	CLIP-seq
MIRT1044255	hsa-miR-320e	CLIP-seq
MIRT1044256	hsa-miR-330-3p	CLIP-seq
MIRT1044257	hsa-miR-3915	CLIP-seq
MIRT1044258	hsa-miR-3928	CLIP-seq
MIRT1044259	hsa-miR-4261	CLIP-seq
MIRT1044260	hsa-miR-4302	CLIP-seq
MIRT1044261	hsa-miR-4307	CLIP-seq
MIRT1044262	hsa-miR-4429	CLIP-seq
MIRT1044263	hsa-miR-4496	CLIP-seq
MIRT1044264	hsa-miR-4642	CLIP-seq
MIRT1044265	hsa-miR-4689	CLIP-seq
MIRT1044266	hsa-miR-4699-5p	CLIP-seq
MIRT1044267	hsa-miR-488	CLIP-seq
MIRT1044268	hsa-miR-580	CLIP-seq
MIRT2009608	hsa-miR-1229	CLIP-seq
MIRT2009609	hsa-miR-181a	CLIP-seq
MIRT2009610	hsa-miR-181b	CLIP-seq
MIRT2009611	hsa-miR-181c	CLIP-seq
MIRT2009612	hsa-miR-181d	CLIP-seq
MIRT2009613	hsa-miR-190	CLIP-seq
MIRT2009614	hsa-miR-190b	CLIP-seq
MIRT2009615	hsa-miR-3680	CLIP-seq
MIRT2009616	hsa-miR-425	CLIP-seq
MIRT2009617	hsa-miR-489	CLIP-seq
MIRT2009618	hsa-miR-498	CLIP-seq
MIRT2009619	hsa-miR-514	CLIP-seq
MIRT2009609	hsa-miR-181a	CLIP-seq
MIRT2009610	hsa-miR-181b	CLIP-seq
MIRT2009611	hsa-miR-181c	CLIP-seq
MIRT2009612	hsa-miR-181d	CLIP-seq
MIRT2241910	hsa-miR-1976	CLIP-seq
MIRT2241911	hsa-miR-3152-5p	CLIP-seq
MIRT2241912	hsa-miR-3667-3p	CLIP-seq
MIRT2241913	hsa-miR-4279	CLIP-seq
MIRT2241914	hsa-miR-4709-3p	CLIP-seq
MIRT2009618	hsa-miR-498	CLIP-seq
MIRT2241915	hsa-miR-499a-5p	CLIP-seq
MIRT2241910	hsa-miR-1976	CLIP-seq
MIRT2241911	hsa-miR-3152-5p	CLIP-seq
MIRT2009618	hsa-miR-498	CLIP-seq
MIRT2241915	hsa-miR-499a-5p	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004322	Function	Ferroxidase activity	IBA
GO:0004322	Function	Ferroxidase activity	IDA	20685892, 31125343
GO:0004322	Function	Ferroxidase activity	IEA
GO:0005507	Function	Copper ion binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006825	Process	Copper ion transport	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IMP	31125343
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
618455	30477	ENSG00000181333

Q6MZM0

Protein name

Ferroxidase HEPHL1 (EC 1.16.3.1) (Hephaestin-like protein 1)

Protein function

Is a copper-binding glycoprotein with ferroxidase activity. It oxidizes Fe(2+) to Fe(3+) without releasing radical oxygen species (PubMed:31125343). May be involved in the regulation of intracellular iron content (PubMed:31125343). {ECO:0000269|

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07732	Cu-oxidase_3	98 → 210	Multicopper oxidase	Domain
PF07731	Cu-oxidase_2	291 → 367	Multicopper oxidase	Domain
PF07732	Cu-oxidase_3	441 → 564	Multicopper oxidase	Domain
PF07732	Cu-oxidase_3	808 → 909	Multicopper oxidase	Domain
PF07731	Cu-oxidase_2	947 → 1068	Multicopper oxidase	Domain

Sequence

MPRKQPAGCIFLLTFLGLSGLVGTVTRTYYIGIVEEYWNYVPQGKNVITGKSFTEDKLAT
LFLERGPNRIGSIYKKAVYRRFTDGTYSIEIPKPPWLGFLGPILRAEVGDVIVIHLKNFA
SRPYSLHPHGVFYNKDSEGALYPDGTSGRNKNDDMVPPGKNYTYVWPVREEYAPTPADAN
CLTWVYHSHIDAPKDICSGLIGPLLVCKEGILNRYSGTRNDVDREFVIMFTLVDENQSWY
LNENIKHFCTNPDSVDKKDAVFQRSNKMHALNGYLFGNFPEPDMCVGESVSWHLFGMGNE
IDIHSIYFYGNTFISRGHRTDVVNLFPATFLTTEMIAENPGKWMITCQVSDHLQAGMLGQ
YNVDNCKSDIFYPKMKGQQRRYFIAAEKILWDYAPQGYNKFSGLPLNASGSDSDLYFTQG
DNRIGGKYWKVRYTEFVDATFTKRKRLSAEEAHLGILGPVIKAEVGDTLLVTFANKADKV
YSILPHGVIYDKASDAAPNLDGFVKPGAHVKPGETFTYKWTVPESVSPTAGDPPCLTYLY
FSAVDPIKDTSSGLVGPLLVCKKGVLNADGTQKGIDKEFYLLFTVFDENLSRYFDENIQK
FIWHPFSIDKEDKEFVKSNRMHAVNGYMYGNQPGLNMCKRDRVSWHLIGLGTDTDMHGIV
FQGNTIHLRGTHRDSLALFPHMATTAFMQPDHAGIFRVFCATMPHLSRGMGQIYEVSSCD
NRDPSEQRYGMIRTFYIAAEEVEWDYAPNKNWEFEKQHVDARGERHGDIFMNRTENWIGS
QYKKVVYREYTDGEFVEIKARPPREEHLELLGPMIHAEVGNTVLIIFKNKASRPYSISAQ
GVEEMDSGKQFQVPMTKPGEVKTYRWNIPKRSGPGPSDPNCIPWVYYSTVNFVKDTYSGL
MGPLITCRKGVLNEKGRRSDVDYEFALLFLVFNENESWYLDDNIKKYLNKDPRDFKRTDD
FEESNRMHAINGKIFGNLHGLIMNEDTMTNWYLLGIGSEVDIHTIHYHAESFLFKIDKSY
REDVYDLFPGTFQTIELFADHPGTWLLHCHVSDHIHAGMETTYTVLRNIDNRIPYSTTSP
GVASHPATVPSNERPGKEQLYFFGKNLGPTGAKAALVILFIIGLLLLITTVILSLRLCSA
MKQTDYQQVQSCALPTDAL

Sequence length

1159

Interactions

View interactions

	KEGG
	Porphyrin metabolism Hormone signaling Mineral absorption

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Pili torti-developmental delay-neurological abnormalities syndrome	Likely pathogenic	rs2496211929	RCV003340777	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; no classifications from unflagged records	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPHL1-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lichen planopilaris	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	30052684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clastothrix	Clastothrix	BEFREE	31125343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clastothrix	Clastothrix	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hair Diseases	Hair Diseases	BEFREE	31125343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31125343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	30052684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30052684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid Valve Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

HEPHL1 (hephaestin like 1)