Heph (hephaestin) - Rat Genome Database

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Gene: Heph (hephaestin) Heterocephalus glaber
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Symbol: Heph
Name: hephaestin
RGD ID: 18911073
Description: ENCODES a protein that exhibits copper ion binding (inferred); ferroxidase activity (inferred); metal ion binding (inferred); INVOLVED IN erythrocyte differentiation (ortholog); intestinal iron absorption (ortholog); multicellular organismal-level iron ion homeostasis (ortholog); PARTICIPATES IN iron efflux pathway; ASSOCIATED WITH autistic disorder (ortholog); autosomal hemophilia A (ortholog); factor VIII deficiency (ortholog); FOUND IN basolateral plasma membrane (ortholog); perinuclear region of cytoplasm (ortholog)
Type: protein-coding
RefSeq Status: MODEL
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Latest Assembly: HetGla 1.0 - Naked Mole-Rat female 1.0 Assembly
Position:
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
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

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References
Additional References at PubMed
PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
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
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
(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
(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


Expression

RNA-SEQ Expression


Sequence


Ensembl Acc Id: ENSHGLT00000002211   ⟹   ENSHGLP00000002163
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla_female_1.0 EnsemblNW_0046248981,028,882 - 1,122,461 (-)Ensembl
Ensembl Acc Id: ENSHGLT00000002212   ⟹   ENSHGLP00000002164
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla_female_1.0 EnsemblNW_0046248981,065,536 - 1,113,384 (-)Ensembl
RefSeq Acc Id: XM_021250223   ⟹   XP_021105882
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla 1.0NW_0046248981,031,859 - 1,122,391 (-)NCBI
RefSeq Acc Id: XM_021250224   ⟹   XP_021105883
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla 1.0NW_0046248981,031,859 - 1,122,391 (-)NCBI
RefSeq Acc Id: XM_021250225   ⟹   XP_021105884
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla 1.0NW_0046248981,031,859 - 1,122,391 (-)NCBI
Protein Sequences
Protein RefSeqs XP_021105882 (Get FASTA)   NCBI Sequence Viewer  
  XP_021105883 (Get FASTA)   NCBI Sequence Viewer  
  XP_021105884 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSHGLP00000002163
RefSeq Acc Id: XP_021105884   ⟸   XM_021250225
- Peptide Label: isoform X3
- UniProtKB: A0AAX6SBP1 (UniProtKB/TrEMBL),   G5ASN8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_021105883   ⟸   XM_021250224
- Peptide Label: isoform X2
- UniProtKB: A0AAX6SCW5 (UniProtKB/TrEMBL),   G5ASN8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_021105882   ⟸   XM_021250223
- Peptide Label: isoform X1
- UniProtKB: A0AAX6S773 (UniProtKB/TrEMBL),   G5ASN8 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSHGLP00000002164   ⟸   ENSHGLT00000002212
Ensembl Acc Id: ENSHGLP00000002163   ⟸   ENSHGLT00000002211


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSHGLG00000001643 Ensembl, ENTREZGENE
Ensembl Transcript ENSHGLT00000002211 ENTREZGENE
Gene3D-CATH Cupredoxins - blue copper proteins UniProtKB/TrEMBL
InterPro Ceruloplasmin-like_CuRO_5 UniProtKB/TrEMBL
  Cu-oxidase_C UniProtKB/TrEMBL
  Cu-oxidase_fam UniProtKB/TrEMBL
  Cu-oxidase_N UniProtKB/TrEMBL
  Cu_oxidase_CS UniProtKB/TrEMBL
  Cu_oxidase_Cu_BS UniProtKB/TrEMBL
  Cupredoxin UniProtKB/TrEMBL
  Factor_5/8-like UniProtKB/TrEMBL
NCBI Gene Heph ENTREZGENE
PANTHER HEPHAESTIN UniProtKB/TrEMBL
  MULTI-COPPER OXIDASE UniProtKB/TrEMBL
Pfam Cu-oxidase_2 UniProtKB/TrEMBL
  Cu-oxidase_3 UniProtKB/TrEMBL
PIRSF Factors_V_VIII UniProtKB/TrEMBL
PROSITE MULTICOPPER_OXIDASE1 UniProtKB/TrEMBL
  MULTICOPPER_OXIDASE2 UniProtKB/TrEMBL
Superfamily-SCOP Cupredoxins UniProtKB/TrEMBL
UniProt A0AAX6S773 ENTREZGENE, UniProtKB/TrEMBL
  A0AAX6SBP1 ENTREZGENE, UniProtKB/TrEMBL
  A0AAX6SCW5 ENTREZGENE, UniProtKB/TrEMBL
  G5ASN8 ENTREZGENE, UniProtKB/TrEMBL