HEPHL1 hephaestin like 1 [Homo sapiens (human)] - Gene

Summary

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 cellular iron ion homeostasis. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
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

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

EC 1.16.3.1

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)

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