Hephl1 (hephaestin-like 1) - Rat Genome Database

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Gene: Hephl1 (hephaestin-like 1) Mus musculus
Analyze
Symbol: Hephl1
Name: hephaestin-like 1
RGD ID: 1622024
MGI Page MGI
Description: Predicted to enable ferroxidase activity. Predicted to be involved in intracellular iron ion homeostasis and iron ion transport. Predicted to act upstream of or within multicellular organismal-level iron ion homeostasis. Predicted to be located in 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).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: cw; ferroxidase HEPHL1; Gm509; hephaestin-like protein 1; tail hair depletion; thd; Z; Zp; zykl; zyklopen
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39914,963,137 - 15,023,466 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl914,963,137 - 15,023,404 (-)EnsemblGRCm39 Ensembl
GRCm38915,051,841 - 15,112,170 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl915,051,841 - 15,112,108 (-)EnsemblGRCm38mm10GRCm38
MGSCv37914,856,285 - 14,916,552 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36914,804,011 - 14,862,497 (-)NCBIMGSCv36mm8
Celera912,332,719 - 12,393,081 (-)NCBICelera
Cytogenetic Map9A2NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:310441   PMID:5647630   PMID:5911159   PMID:6092692   PMID:10349636   PMID:11042159   PMID:11076861   PMID:11217851   PMID:12466851   PMID:16141072   PMID:16141073   PMID:20685892  
PMID:21677750   PMID:21873635   PMID:24988611   PMID:31125343   PMID:31293895   PMID:32325033  


Genomics

Comparative Map Data
Hephl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39914,963,137 - 15,023,466 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl914,963,137 - 15,023,404 (-)EnsemblGRCm39 Ensembl
GRCm38915,051,841 - 15,112,170 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl915,051,841 - 15,112,108 (-)EnsemblGRCm38mm10GRCm38
MGSCv37914,856,285 - 14,916,552 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36914,804,011 - 14,862,497 (-)NCBIMGSCv36mm8
Celera912,332,719 - 12,393,081 (-)NCBICelera
Cytogenetic Map9A2NCBI
HEPHL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381194,021,354 - 94,114,208 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1194,021,354 - 94,114,208 (+)EnsemblGRCh38hg38GRCh38
GRCh371193,754,520 - 93,847,374 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361193,394,026 - 93,487,022 (+)NCBINCBI36Build 36hg18NCBI36
Celera1191,042,195 - 91,135,169 (+)NCBICelera
Cytogenetic Map11q21NCBI
HuRef1189,829,206 - 89,922,514 (+)NCBIHuRef
CHM1_11193,637,403 - 93,730,368 (+)NCBICHM1_1
T2T-CHM13v2.01193,938,102 - 94,030,957 (+)NCBIT2T-CHM13v2.0
Hephl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8820,178,190 - 20,246,698 (-)NCBIGRCr8
mRatBN7.2811,896,768 - 11,965,282 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl811,898,532 - 11,965,267 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx815,880,896 - 15,949,552 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0814,178,657 - 14,247,294 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0812,160,022 - 12,228,389 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0813,614,800 - 13,680,870 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl813,614,800 - 13,680,870 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0813,555,911 - 13,622,279 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4811,858,152 - 11,925,452 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera813,367,554 - 13,434,143 (-)NCBICelera
Cytogenetic Map8q12NCBI
Hephl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955414461,212 - 551,323 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955414461,212 - 551,323 (-)NCBIChiLan1.0ChiLan1.0
HEPHL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2994,875,671 - 94,969,244 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11195,967,401 - 96,060,643 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01189,035,265 - 89,127,508 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11192,521,421 - 92,613,455 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1192,521,421 - 92,613,455 (+)Ensemblpanpan1.1panPan2
HEPHL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1216,720,472 - 6,813,946 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl216,716,562 - 6,814,486 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha216,729,881 - 6,823,331 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0216,900,421 - 6,994,141 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl216,901,997 - 6,994,165 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1216,681,088 - 6,774,590 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0216,750,370 - 6,844,426 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0216,800,696 - 6,894,096 (-)NCBIUU_Cfam_GSD_1.0
Hephl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494779,045,306 - 79,115,031 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936674778,160 - 846,119 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936674778,160 - 846,119 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HEPHL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl926,355,996 - 26,437,442 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1926,356,159 - 26,438,315 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2930,088,640 - 30,170,534 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HEPHL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1185,268,791 - 85,348,816 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl185,269,726 - 85,346,988 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604340,462,062 - 40,538,402 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hephl1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473538,687,298 - 38,755,523 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473538,687,298 - 38,757,256 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Hephl1
2088 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:639
Count of miRNA genes:413
Interacting mature miRNAs:496
Transcripts:ENSMUST00000159985
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
4142326Tgq19_mtriglyceride QTL 19 (mouse)Not determined121060750Mouse
1300899Chol6_mcholesterol 6 (mouse)Not determined9129902913Mouse
13434920Dcollq1_mdifferential colonization level QTL 1 (mouse)9130341840Mouse
35673312Ari7_mantibody response to influenza 7, day 45, IgG3 (mouse)9780000122211296Mouse
1300849Sles4_msystemic lupus erythmatosus suppressor 4 (mouse)Not determined9910756237306370Mouse
13504833Bglu19_mblood glucose level 19 (mouse)9991076843910768Mouse
1300532Tbs2_mtuberculosis severity 2 (mouse)Not determined91236997046370114Mouse
10043917Obq37_mobesity QTL 37 (mouse)Not determined91339117547391175Mouse

Markers in Region
RH126233  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38915,060,527 - 15,060,772UniSTSGRCm38
MGSCv37914,864,971 - 14,865,216UniSTSGRCm37
Celera912,341,460 - 12,341,705UniSTS
Cytogenetic Map9A2UniSTS
Whitehead/MRC_RH9180.05UniSTS
Hephl1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9A2UniSTS
cM Map94.56UniSTS


Expression


Sequence


RefSeq Acc Id: ENSMUST00000159985   ⟹   ENSMUSP00000124518
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl914,963,137 - 15,023,404 (-)Ensembl
GRCm38.p6 Ensembl915,051,841 - 15,112,108 (-)Ensembl
RefSeq Acc Id: NM_001164797   ⟹   NP_001158269
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39914,963,137 - 15,023,404 (-)NCBI
GRCm38915,051,841 - 15,112,108 (-)NCBI
MGSCv37914,856,285 - 14,916,552 (-)RGD
Celera912,332,719 - 12,393,081 (-)RGD
cM Map9 ENTREZGENE
Sequence:
RefSeq Acc Id: XR_003947897
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39914,978,333 - 15,023,466 (-)NCBI
GRCm38915,067,037 - 15,112,170 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001158269 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAE21178 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSMUSP00000124518
  ENSMUSP00000124518.2
GenBank Protein Q3V1H3 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001158269   ⟸   NM_001164797
- Peptide Label: precursor
- UniProtKB: Q3V1H3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSMUSP00000124518   ⟸   ENSMUST00000159985
Protein Domains
Plastocyanin-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q3V1H3-F1-model_v2 AlphaFold Q3V1H3 1-1159 view protein structure

Promoters
RGD ID:8668834
Promoter ID:EPDNEW_M12448
Type:initiation region
Name:Hephl1_1
Description:Mus musculus hephaestin-like 1 , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38915,112,108 - 15,112,168EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:2685355 AgrOrtholog
Ensembl Genes ENSMUSG00000031936 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000159985 ENTREZGENE
  ENSMUST00000159985.2 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.420 UniProtKB/Swiss-Prot
InterPro Cu-oxidase_2 UniProtKB/Swiss-Prot
  Cu-oxidase_3 UniProtKB/Swiss-Prot
  Cu_oxidase_CS UniProtKB/Swiss-Prot
  Cu_oxidase_Cu_BS UniProtKB/Swiss-Prot
  Cupredoxin UniProtKB/Swiss-Prot
KEGG Report mmu:244698 UniProtKB/Swiss-Prot
MGD MGI:2685355 ENTREZGENE
NCBI Gene 244698 ENTREZGENE
PANTHER COAGULATION FACTOR VIII UniProtKB/Swiss-Prot
  F5/8 TYPE C DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot
Pfam Cu-oxidase_2 UniProtKB/Swiss-Prot
  Cu-oxidase_3 UniProtKB/Swiss-Prot
PhenoGen Hephl1 PhenoGen
PROSITE MULTICOPPER_OXIDASE1 UniProtKB/Swiss-Prot
  MULTICOPPER_OXIDASE2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49503 UniProtKB/Swiss-Prot
UniProt HPHL1_MOUSE UniProtKB/Swiss-Prot, ENTREZGENE