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Hephl1
Gene Detail
 Symbol
Name
ID
Hephl1
hephaestin-like 1
MGI:2685355
Synonyms LOC244698, Zp, zyklopen
Feature Type protein coding gene
Genetic Map
Chromosome 9
4.56 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr9:15051841-15112108 bp, - strand
From VEGA annotation of GRCm38

  60268 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:9112  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: ceruloplasmin-like multicopper ferroxidase
Gene Tree: Hephl1

Human
homologs
Human Homolog HEPHL1, hephaestin-like 1
NCBI Gene ID 341208
neXtProt AC  NX_Q6MZM0
Human Chr (Location)  11q21; chr11:94021212-94114208 (+)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
Interactions
Hephl1 interacts with 325 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (17 annotations)
Process copper ion transport, ion transport, ...
Component integral component of membrane, membrane
Function copper ion binding, epoxyqueuosine reductase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (28)    Tissues (23)   
Theiler Stages: 23, 25, 26, 28
Assay TypeResults
Immunohistochemistry 19
Western blot 3
RT-PCR 6
cDNA source data(2)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(3) cDNA(2) Primer pair(1)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000032787 (Evidence)
Ensembl Gene ModelENSMUSG00000031936 (Evidence)
Entrez Gene244698 (Evidence)
DFCITC1710104, TC1720592
DoTSDT.40161442, DT.55181983
EC1.-.-.-
Consensus CDS ProjectCCDS52725.1
International Mouse Knockout Project StatusHephl1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000032787 VEGA Gene Model | MGI Sequence Detail 60268 C57BL/6J ±  kb
transcript OTTMUST00000081639 VEGA | MGI Sequence Detail 5261 Not Applicable 
polypeptide OTTMUSP00000043704 VEGA | MGI Sequence Detail 1159 Not Applicable 

For the selected sequences
All sequences(20) RefSeq(4) UniProt(1)
Polymorphisms SNPs within 2kb(497 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008972 Cupredoxin
InterPro IPR002355 Multicopper oxidase, copper-binding site
InterPro IPR011706 Multicopper oxidase, type 2
InterPro IPR011707 Multicopper oxidase, type 3
Protein Ontology PR:000008512 hephaestin-like protein 1
References (Earliest) J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
(Latest) J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(26)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/23/2014
MGI 5.19
The Jackson Laboratory