Heph (hephaestin) - Rat Genome Database

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Gene: Heph (hephaestin) Mus musculus
Analyze
Symbol: Heph
Name: hephaestin
RGD ID: 737349
MGI Page MGI
Description: Predicted to enable copper ion binding activity; ferrous iron binding activity; and ferroxidase activity. Acts upstream of or within erythrocyte differentiation. Predicted to be located in basolateral plasma membrane and perinuclear region of cytoplasm. Predicted to be active in plasma membrane. Orthologous to human HEPH (hephaestin).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C; C130006F04Rik; Cpl; haphaestin; mKIAA0698; sex linked anemia; sla
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
GRCm39X95,499,042 - 95,618,091 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX95,498,965 - 95,618,091 (+)EnsemblGRCm39 Ensembl
GRCm38X96,455,436 - 96,574,485 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX96,455,359 - 96,574,485 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X93,650,775 - 93,769,824 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X92,658,180 - 92,777,204 (+)NCBIMGSCv36mm8
CeleraX83,458,771 - 83,577,333 (+)NCBICelera
Cytogenetic MapXC3NCBI
cM MapX42.69NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (ISO)
1,2-dichloroethane  (EXP)
1,2-dimethylhydrazine  (EXP)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,7-dihydropurine-6-thione  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-methylcholanthrene  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (ISO)
asbestos  (ISO)
atrazine  (ISO)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (ISO)
bilirubin IXalpha  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
carbonyl sulfide  (ISO)
CGP 52608  (ISO)
chromium(6+)  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
Cuprizon  (ISO)
dextran sulfate  (EXP)
dibenz[a,h]anthracene  (EXP)
dorsomorphin  (ISO)
doxorubicin  (ISO)
elemental selenium  (ISO)
entinostat  (ISO)
ethanol  (EXP)
etoposide  (ISO)
furan  (ISO)
hydrogen peroxide  (ISO)
iron atom  (EXP,ISO)
iron(0)  (EXP,ISO)
isoprenaline  (EXP)
L-ascorbic acid  (ISO)
lead diacetate  (EXP)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
menadione  (ISO)
mercaptopurine  (ISO)
mercury atom  (ISO)
mercury(0)  (ISO)
methimazole  (ISO)
methyl methanesulfonate  (ISO)
methylmercury chloride  (ISO)
methylseleninic acid  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (ISO)
oxaliplatin  (ISO)
oxidopamine  (EXP)
ozone  (EXP)
progesterone  (EXP)
purine-6-thiol  (ISO)
quercetin  (ISO)
rotenone  (ISO)
SB 431542  (ISO)
selenium atom  (ISO)
silicon dioxide  (ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP,ISO)
sunitinib  (ISO)
tamoxifen  (EXP)
tebuconazole  (ISO)
tert-butyl hydroperoxide  (EXP,ISO)
testosterone  (EXP)
testosterone enanthate  (ISO)
tetrachloromethane  (EXP)
thimerosal  (ISO)
thioacetamide  (ISO)
titanium dioxide  (EXP)
topotecan  (ISO)
tributylstannane  (EXP)
triptonide  (EXP)
valproic acid  (ISO)
vincristine  (ISO)
zinc atom  (ISO)
zinc dichloride  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal Bruch membrane morphology  (IAGP)
abnormal ciliary epithelium morphology  (IAGP)
abnormal coat/ hair morphology  (IAGP)
abnormal definitive hematopoiesis  (IEA)
abnormal erythrocyte morphology  (IEA)
abnormal heart morphology  (IEA)
abnormal iron homeostasis  (IAGP)
abnormal iron level  (IAGP)
abnormal lymph node morphology  (IEA)
abnormal optic choroid morphology  (IAGP)
abnormal placental transport  (IAGP)
abnormal protein level  (IAGP)
abnormal retina morphology  (IAGP)
abnormal retina pigment epithelium morphology  (IAGP)
abnormal retina pigmentation  (IAGP)
anemia  (IAGP)
anisopoikilocytosis  (IAGP)
decreased circulating iron level  (IAGP)
decreased erythrocyte cell number  (IAGP)
decreased hematocrit  (IAGP)
decreased hemoglobin content  (IAGP)
decreased mean corpuscular hemoglobin  (IAGP)
decreased mean corpuscular hemoglobin concentration  (IEA)
decreased mean corpuscular volume  (IAGP)
enlarged heart  (IEA)
enlarged lymph nodes  (IEA)
eye inflammation  (IAGP)
hypochromic anemia  (IAGP)
increased circulating alanine transaminase level  (IEA)
increased circulating aspartate transaminase level  (IEA)
increased circulating creatine kinase level  (IEA)
increased circulating iron level  (IEA)
increased circulating phosphate level  (IEA)
increased erythrocyte protoporphyrin level  (IAGP)
increased intestinal iron level  (IAGP)
increased liver iron level  (IAGP)
increased susceptibility to age-related retinal degeneration  (IAGP)
macrocytosis  (IAGP)
microcytosis  (IAGP)
neurodegeneration  (IAGP)
no abnormal phenotype detected  (IEA)
polychromatophilia  (IAGP)
retina degeneration  (IAGP)
retina neovascularization  (IAGP)
retina photoreceptor degeneration  (IAGP)
retina pigment epithelium atrophy  (IAGP)
retina pigment epithelium hyperplasia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Ironing out Ferroportin. Drakesmith H, etal., Cell Metab. 2015 Nov 3;22(5):777-87. doi: 10.1016/j.cmet.2015.09.006. Epub 2015 Oct 1.
2. Cloning and gastrointestinal expression of rat hephaestin: relationship to other iron transport proteins. Frazer DM, etal., Am J Physiol Gastrointest Liver Physiol 2001 Oct;281(4):G931-9.
3. Electronic Transfer of Homolog Data MGD and Homologene mouse data transfer
4. MGDs mouse GO annotations MGD data from the GO Consortium
5. MGD IEA MGD IEA
6. A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse. Nolan PM, etal., Nat Genet 2000 Aug;25(4):440-3.
7. Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, etal., DNA Res 2003 Aug 31;10(4):167-80.
8. Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73.
9. Mouse MP Annotation Import Pipeline RGD automated import pipeline
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. Integrated microarray analysis provided novel insights to the pathogenesis of glaucoma. Wang J, etal., Mol Med Rep. 2017 Dec;16(6):8735-8746. doi: 10.3892/mmr.2017.7711. Epub 2017 Oct 4.
Additional References at PubMed
PMID:180329   PMID:658175   PMID:708646   PMID:782924   PMID:2289471   PMID:4404581   PMID:5111764   PMID:5903585   PMID:8297521   PMID:9503013   PMID:9988272   PMID:10349636  
PMID:10791995   PMID:11042159   PMID:11076861   PMID:11217851   PMID:12477932   PMID:12730111   PMID:14724150   PMID:14751926   PMID:15354085   PMID:15365174   PMID:15489334   PMID:15825077  
PMID:16141072   PMID:16141073   PMID:16614410   PMID:17065470   PMID:18326691   PMID:19747625   PMID:20811044   PMID:21051716   PMID:21212186   PMID:21297615   PMID:21677750   PMID:21873635  
PMID:21917813   PMID:22342521   PMID:24896847   PMID:25788583   PMID:26303407   PMID:26506980   PMID:27991585   PMID:28057442   PMID:29355933   PMID:29686088   PMID:29883959   PMID:30060949  
PMID:30182051   PMID:31263155   PMID:32325033   PMID:35271829  


Genomics

Comparative Map Data
Heph
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X95,499,042 - 95,618,091 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX95,498,965 - 95,618,091 (+)EnsemblGRCm39 Ensembl
GRCm38X96,455,436 - 96,574,485 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX96,455,359 - 96,574,485 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X93,650,775 - 93,769,824 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X92,658,180 - 92,777,204 (+)NCBIMGSCv36mm8
CeleraX83,458,771 - 83,577,333 (+)NCBICelera
Cytogenetic MapXC3NCBI
cM MapX42.69NCBI
HEPH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X66,162,671 - 66,268,863 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX66,162,671 - 66,268,867 (+)EnsemblGRCh38hg38GRCh38
GRCh37X65,382,513 - 65,488,705 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X65,299,388 - 65,403,956 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X65,165,683 - 65,270,249NCBI
CeleraX65,729,951 - 65,834,741 (+)NCBICelera
Cytogenetic MapXq12NCBI
HuRefX59,211,026 - 59,315,881 (+)NCBIHuRef
CHM1_1X65,275,270 - 65,380,018 (+)NCBICHM1_1
T2T-CHM13v2.0X64,590,334 - 64,696,504 (+)NCBIT2T-CHM13v2.0
Heph
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X65,160,628 - 65,412,457 (+)NCBIGRCr8
mRatBN7.2X61,151,131 - 61,402,980 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX61,296,345 - 61,402,980 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX62,774,925 - 62,871,814 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X66,275,451 - 66,372,352 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X63,831,013 - 63,927,954 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X65,377,313 - 65,658,479 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX65,563,122 - 65,658,516 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X66,388,085 - 66,488,433 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X84,033,540 - 84,138,728 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1X84,106,831 - 84,212,018 (+)NCBI
CeleraX61,712,172 - 61,814,411 (+)NCBICelera
Cytogenetic MapXq22NCBI
Heph
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554755,625,150 - 5,704,234 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554755,625,177 - 5,704,234 (+)NCBIChiLan1.0ChiLan1.0
HEPH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X65,685,190 - 65,784,061 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X65,688,838 - 65,787,666 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X55,276,887 - 55,375,719 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X65,349,638 - 65,448,388 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX65,349,546 - 65,448,388 (+)Ensemblpanpan1.1panPan2
HEPH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X50,989,918 - 51,102,777 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX50,989,700 - 51,101,189 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX41,826,463 - 41,936,925 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X51,952,884 - 52,063,364 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX51,952,673 - 52,063,238 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X49,917,808 - 50,028,260 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X51,265,268 - 51,375,764 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X51,180,615 - 51,291,064 (+)NCBIUU_Cfam_GSD_1.0
Heph
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X51,189,534 - 51,267,810 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366351,954,947 - 2,022,101 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366351,954,771 - 2,022,061 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HEPH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX52,314,935 - 52,397,380 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X52,314,911 - 52,397,384 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X58,896,080 - 58,975,042 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HEPH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X56,093,899 - 56,186,284 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX56,092,407 - 56,187,931 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660833,439,427 - 3,539,699 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Heph
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248981,028,882 - 1,122,461 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248981,031,859 - 1,122,391 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Heph
3152 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1050
Count of miRNA genes:512
Interacting mature miRNAs:623
Transcripts:ENSMUST00000033553, ENSMUST00000079322, ENSMUST00000113838, ENSMUST00000135212, ENSMUST00000154413
Prediction methods:Miranda, Pita, Pita,Targetscan, 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
1357433Dbts2_mdiabetes 2 (mouse)Not determinedX7226295150107038Mouse
4141630Gct6_mgranulosa cell tumorigenesis 6 (mouse)Not determined47179121129764756Mouse
13824980Ferq1_mgenetic fertility QTL 1 (mouse)X54045360148782996Mouse
25314318Sccor2_msynaptonemal complex length to mean MLH1 count ratio 2 (mouse)X7054360696543606Mouse
4141665Mhysq2_mmale hybrid sterility QTL 2 (mouse)Not determined71453852139203212Mouse
12879918Shm4_msperm head morphology 4 (mouse)X72072050102062720Mouse
1357500Mdmsc6_mmodifier of muscularity 6 (mouse)Not determinedX75306671109306758Mouse
1302054Gct4_mgranulosa cell tumorigenesis 4 (mouse)Not determinedX76124336102062720Mouse
11075102Modc2_mmodifier of Odc2 (mouse)X80189914114190059Mouse
4141803Lmr30_mleishmaniasis resistance 30 (mouse)Not determined85062606119062720Mouse
13208552Wght12_mweight 12 (mouse)X94043606149782996Mouse
13208556Lgth14_mbody length 14 (mouse)X94043606149782996Mouse


Expression


Sequence


Reference Sequences
RefSeq Acc Id: ENSMUST00000033553   ⟹   ENSMUSP00000033553
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX95,498,965 - 95,618,091 (+)Ensembl
GRCm38.p6 EnsemblX96,455,359 - 96,574,485 (+)Ensembl
RefSeq Acc Id: ENSMUST00000079322   ⟹   ENSMUSP00000078301
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX95,499,979 - 95,575,029 (+)Ensembl
GRCm38.p6 EnsemblX96,456,373 - 96,531,423 (+)Ensembl
RefSeq Acc Id: ENSMUST00000113838   ⟹   ENSMUSP00000109469
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX95,499,996 - 95,618,088 (+)Ensembl
GRCm38.p6 EnsemblX96,456,390 - 96,574,482 (+)Ensembl
RefSeq Acc Id: ENSMUST00000135212
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX95,500,034 - 95,531,367 (+)Ensembl
GRCm38.p6 EnsemblX96,456,428 - 96,487,761 (+)Ensembl
RefSeq Acc Id: ENSMUST00000154413
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX95,500,034 - 95,519,427 (+)Ensembl
GRCm38.p6 EnsemblX96,456,428 - 96,475,821 (+)Ensembl
RefSeq Acc Id: NM_001159627   ⟹   NP_001153099
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39X95,499,952 - 95,618,091 (+)NCBI
GRCm38X96,456,346 - 96,574,485 (+)NCBI
MGSCv37X93,650,775 - 93,769,824 (+)RGD
CeleraX83,458,771 - 83,577,333 (+)RGD
cM MapX ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001159628   ⟹   NP_001153100
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39X95,499,042 - 95,618,091 (+)NCBI
GRCm38X96,455,436 - 96,574,485 (+)ENTREZGENE
MGSCv37X93,650,775 - 93,769,824 (+)RGD
CeleraX83,458,771 - 83,577,333 (+)RGD
cM MapX ENTREZGENE
Sequence:
RefSeq Acc Id: NM_010417   ⟹   NP_034547
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39X95,499,042 - 95,618,091 (+)NCBI
GRCm38X96,455,436 - 96,574,485 (+)ENTREZGENE
MGSCv37X93,650,775 - 93,769,824 (+)RGD
CeleraX83,458,771 - 83,577,333 (+)RGD
cM MapX ENTREZGENE
Sequence:
RefSeq Acc Id: NM_181273   ⟹   NP_851790
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39X95,499,952 - 95,575,029 (+)NCBI
GRCm38X96,456,346 - 96,531,423 (+)NCBI
MGSCv37X93,650,775 - 93,769,824 (+)RGD
CeleraX83,458,771 - 83,577,333 (+)RGD
cM MapX ENTREZGENE
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_034547   ⟸   NM_010417
- Peptide Label: isoform 1 precursor
- UniProtKB: Q80Y80 (UniProtKB/Swiss-Prot),   Q6ZQ65 (UniProtKB/Swiss-Prot),   A2AI63 (UniProtKB/Swiss-Prot),   Q8C4S2 (UniProtKB/Swiss-Prot),   Q9Z0Z4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_851790   ⟸   NM_181273
- Peptide Label: isoform 2 precursor
- UniProtKB: A2AI62 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001153100   ⟸   NM_001159628
- Peptide Label: isoform 3 precursor
- UniProtKB: Q9Z0Z4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001153099   ⟸   NM_001159627
- Peptide Label: isoform 1 precursor
- UniProtKB: Q80Y80 (UniProtKB/Swiss-Prot),   Q6ZQ65 (UniProtKB/Swiss-Prot),   A2AI63 (UniProtKB/Swiss-Prot),   Q8C4S2 (UniProtKB/Swiss-Prot),   Q9Z0Z4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSMUSP00000078301   ⟸   ENSMUST00000079322
RefSeq Acc Id: ENSMUSP00000109469   ⟸   ENSMUST00000113838
RefSeq Acc Id: ENSMUSP00000033553   ⟸   ENSMUST00000033553
Protein Domains
Plastocyanin-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Z0Z4-F1-model_v2 AlphaFold Q9Z0Z4 1-1157 view protein structure

Promoters
RGD ID:13680988
Promoter ID:EPDNEW_M24643
Type:initiation region
Name:Heph_3
Description:Mus musculus hephaestin , transcript variant 3, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M24644  EPDNEW_M24645  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38X96,455,434 - 96,455,494EPDNEW
RGD ID:13680990
Promoter ID:EPDNEW_M24644
Type:initiation region
Name:Heph_2
Description:Mus musculus hephaestin , transcript variant 3, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M24643  EPDNEW_M24645  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38X96,455,565 - 96,455,625EPDNEW
RGD ID:13680992
Promoter ID:EPDNEW_M24645
Type:initiation region
Name:Heph_1
Description:Mus musculus hephaestin , transcript variant 3, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M24643  EPDNEW_M24644  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38X96,456,370 - 96,456,430EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:1332240 AgrOrtholog
Ensembl Genes ENSMUSG00000031209 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000033553 ENTREZGENE
  ENSMUST00000033553.14 UniProtKB/Swiss-Prot
  ENSMUST00000079322 ENTREZGENE
  ENSMUST00000079322.12 UniProtKB/TrEMBL
  ENSMUST00000113838 ENTREZGENE
  ENSMUST00000113838.8 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.420 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro Ceruloplasmin-like_CuRO_5 UniProtKB/Swiss-Prot
  Cu-oxidase_2 UniProtKB/Swiss-Prot
  Cu-oxidase_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cu-oxidase_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cu_oxidase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cu_oxidase_Cu_BS UniProtKB/Swiss-Prot
  Cupredoxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Factor_5/8-like UniProtKB/Swiss-Prot
KEGG Report mmu:15203 UniProtKB/Swiss-Prot
MGD MGI:1332240 ENTREZGENE
NCBI Gene 15203 ENTREZGENE
PANTHER COAGULATION FACTOR VIII UniProtKB/TrEMBL
  F5/8 TYPE C DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  PTHR11709 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11709:SF221 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cu-oxidase_2 UniProtKB/Swiss-Prot
  Cu-oxidase_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Heph PhenoGen
PIRSF Factors_V_VIII UniProtKB/Swiss-Prot
PROSITE MULTICOPPER_OXIDASE1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MULTICOPPER_OXIDASE2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49503 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2AI62 ENTREZGENE, UniProtKB/TrEMBL
  A2AI63 ENTREZGENE
  HEPH_MOUSE UniProtKB/Swiss-Prot
  Q3V2W4_MOUSE UniProtKB/TrEMBL
  Q6ZQ65 ENTREZGENE
  Q80Y80 ENTREZGENE
  Q8C4S2 ENTREZGENE
  Q9Z0Z4 ENTREZGENE
UniProt Secondary A2AI63 UniProtKB/Swiss-Prot
  Q6ZQ65 UniProtKB/Swiss-Prot
  Q80Y80 UniProtKB/Swiss-Prot
  Q8C4S2 UniProtKB/Swiss-Prot