Hephl1 hephaestin-like 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hephl1provided by MGI
Official Full Name: hephaestin-like 1provided by MGI
Primary source: MGI:MGI:2685355
See related: Ensembl:ENSMUSG00000031936 AllianceGenome:MGI:2685355
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Zp; cw; thd; Gm509; zyklopen
Summary: Predicted to enable ferroxidase activity. Predicted to be involved in cellular iron ion homeostasis and iron ion transport. Predicted to act upstream of or within copper ion transport. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including extraembryonic component; genitourinary system; hippocampal formation; integumental system; and retina. Orthologous to human HEPHL1 (hephaestin like 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in subcutaneous fat pad adult (RPKM 2.2), mammary gland adult (RPKM 1.6) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9; 9 A2

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (14963137..15023466, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (15051841..15112170, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Reviewed available data indicate that zyklopen is responsible for the placental iron transport.
Title: [Ceruloplasmin, hephaestin and zyklopen: the three multicopper oxidases important for human iron metabolism].

Submit: New GeneRIF Correction

Phenotypes

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Associated conditions

Description	Tests
curly whiskers GeneReviews: Not available

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (5) 1 citation
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH126233 (e-PCR)
- UniSTS:162941

Hephl1 (e-PCR), detects polymorphism
- UniSTS:531431

Gene Ontology Provided by MGI

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	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within copper ion transport	IEA Inferred from Electronic Annotation more info
involved_in intracellular iron ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in iron ion transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within multicellular organismal-level iron ion homeostasis	ISO Inferred from Sequence Orthology more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
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; tail hair depletion

NP_001158269.1

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_001164797.1 → NP_001158269.1 ferroxidase HEPHL1 precursor

See identical proteins and their annotated locations for NP_001158269.1

Status: VALIDATED

Source sequence(s)

AC154295, AC156500, AK132457, BB618242

Consensus CDS

CCDS52725.1

UniProtKB/Swiss-Prot

Q3V1H3

Related

ENSMUSP00000124518.2, ENSMUST00000159985.2

Conserved Domains (4) summary

cd04222
Location:26 → 208

CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin

cd04224
Location:376 → 572

CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin

cd11022
Location:575 → 718

CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin

cl19115
Location:222 → 362

Cupredoxin; Cupredoxin superfamily