HEPHL1 (hephaestin like 1)

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
SNPs SNP information provided by dbSNP.
2
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.
142
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
618455 30477 ENSG00000181333
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 		 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
31
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Pili torti-developmental delay-neurological abnormalities syndrome Likely pathogenic rs2496211929 RCV003340777
Show/Hide Unknown Diseases (8)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs118037969 RCV005938671
Adrenocortical carcinoma, hereditary Benign; no classifications from unflagged records rs118037969, rs774463623 RCV005938672
RCV005901902
Cervical cancer Benign rs118037969 RCV005938673
Gastric cancer Benign rs118037969 RCV005938674
Show/Hide Text Mining Associations (10)
Associations from Text MiningDisease 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