HEPHL1 (hephaestin like 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
341208
Gene name Gene Name - the full gene name approved by the HGNC.
Hephaestin like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HEPHL1
Synonyms (NCBI Gene) Gene synonyms aliases
HJDD, ZP
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q21
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
618455 30477 ENSG00000181333
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Porphyrin metabolism
Hormone signaling
Mineral absorption 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Associate 24536049
Burkitt Lymphoma Associate 30052684
Empty Sella Syndrome Associate 40287760
Epstein Barr Virus Infections Associate 20459737, 28515295
Infectious Mononucleosis Associate 20459737
Leukoplakia Hairy Associate 25410866
Lymphoma AIDS Related Associate 30052684
Nasopharyngeal Carcinoma Associate 30052684
Neoplasms Associate 22458933
Stomach Neoplasms Associate 30052684