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    HEPHL1 hephaestin like 1 [ Homo sapiens (human) ]

    Gene ID: 341208, updated on 10-Dec-2024

    Summary

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    Official Symbol
    HEPHL1provided by HGNC
    Official Full Name
    hephaestin like 1provided by HGNC
    Primary source
    HGNC:HGNC:30477
    See related
    Ensembl:ENSG00000181333 MIM:618455; AllianceGenome:HGNC:30477
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZP; HJDD
    Summary
    Enables ferroxidase activity. Involved in intracellular iron ion homeostasis. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in esophagus (RPKM 1.6), testis (RPKM 0.2) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HEPHL1 in Genome Data Viewer
    Location:
    11q21
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (94021354..94114208)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (93938102..94030957)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (93754520..93847374)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101060084 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:93641463-93641648 Neighboring gene hypoxanthine phosphoribosyltransferase 1 pseudogene 3 Neighboring gene uncharacterized LOC124902735 Neighboring gene PHB1 pseudogene 16 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:93821850-93822408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:93822409-93822965 Neighboring gene NANOG hESC enhancer GRCh37_chr11:93838940-93839521 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:93852752-93853716 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5401 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:93866399-93866898 Neighboring gene Sharpr-MPRA regulatory region 4215 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:93885086-93886285 Neighboring gene pannexin 1 Neighboring gene actin related protein 2/3 complex subunit 3 pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. The Placental Ferroxidase Zyklopen Is Not Essential for Iron Transport to the Fetus in Mice. Helman SL, et al. J Nutr, 2021 Sep 4. PMID 34114013
    2. Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. Sharma P, et al. PLoS Genet, 2019 May. PMID 31125343, Free PMC Article
    3. Identification of zyklopen, a new member of the vertebrate multicopper ferroxidase family, and characterization in rodents and human cells. Chen H, et al. J Nutr, 2010 Oct. PMID 20685892, Free PMC Article
    4. BPA modulates the WDR5/TET2 complex to regulate ERβ expression in eutopic endometrium and drives the development of endometriosis. Xue W, et al. Environ Pollut, 2021 Jan 1. PMID 33022573
    5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Pili torti-developmental delay-neurological abnormalities syndrome
    MedGen: C1849811 OMIM: 261990 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • DKFZp686F22190

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables copper ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ferroxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ferroxidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in copper ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular iron ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in iron ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ferroxidase HEPHL1
    Names
    hephaestin-like protein 1
    zyklopen
    NP_001092142.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001098672.2 → NP_001092142.1  ferroxidase HEPHL1 precursor

      See identical proteins and their annotated locations for NP_001092142.1

      Status: VALIDATED

      Source sequence(s)
      AP002795, AP003966, BX641008, EG328157
      Consensus CDS
      CCDS44710.1
      UniProtKB/Swiss-Prot
      Q3C1W7, Q6MZM0
      Related
      ENSP00000313699.9, ENST00000315765.10
      Conserved Domains (5) summary
      cd04222
      Location:27 → 209
      CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
      cd04224
      Location:377 → 573
      CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
      cd11021
      Location:223 → 363
      CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
      cd11022
      Location:576 → 719
      CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
      cl19115
      Location:733 → 909
      Cupredoxin; Cupredoxin superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      94021354..94114208
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      93938102..94030957
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6MZM0.2 GenPept UniProtKB/Swiss-Prot:Q6MZM0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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