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

Gene ID: 244698, updated on 8-Feb-2024

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
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Genomic context

See Hephl1 in Genome Data Viewer
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_000075.7Genomic Context describing neighboring genes Neighboring gene nuclear encoded tRNA lysine 4 (anticodon CTT) Neighboring gene STARR-positive B cell enhancer ABC_E8277 Neighboring gene STARR-seq mESC enhancer starr_23366 Neighboring gene pannexin 1 Neighboring gene STARR-seq mESC enhancer starr_23367 Neighboring gene STARR-seq mESC enhancer starr_23368 Neighboring gene STARR-seq mESC enhancer starr_23369 Neighboring gene STARR-seq mESC enhancer starr_23370 Neighboring gene predicted gene, 22658 Neighboring gene predicted gene, 39293

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
curly whiskers
GeneReviews: Not available

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

Preferred Names
ferroxidase HEPHL1
Names
hephaestin-like protein 1
tail hair depletion
NP_001158269.1

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_001164797.1NP_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:26208
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:376572
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd11022
    Location:575718
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
    cl19115
    Location:222362
    Cupredoxin; Cupredoxin superfamily

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    14963137..15023466 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_003947897.1 RNA Sequence