ENSMUSG00000031209


Mus musculus

Features
Gene ID: ENSMUSG00000031209
  
Biological name :Heph
  
Synonyms : Heph / Hephaestin / Q9Z0Z4
  
Possible biological names infered from orthology : Q9BQS7
  
Species: Mus musculus
  
Chr. number: X
Strand: 1
Band: C3
Gene start: 96455359
Gene end: 96574485
  
Corresponding Affymetrix probe sets: 10600857 (MoGene1.0st)   1448696_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000033553
Ensembl peptide - ENSMUSP00000078301
Ensembl peptide - ENSMUSP00000109469
NCBI entrez gene - 15203     See in Manteia.
MGI - MGI:1332240
RefSeq - NM_001159628
RefSeq - NM_001159627
RefSeq - NM_010417
RefSeq - NM_181273
RefSeq Peptide - NP_001153099
RefSeq Peptide - NP_001153100
RefSeq Peptide - NP_034547
RefSeq Peptide - NP_851790
swissprot - Q9Z0Z4
swissprot - A2AI62
Ensembl - ENSMUSG00000031209
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hephl1bENSDARG00000026403Danio rerio
 HEPHENSGALG00000037410Gallus gallus
 HEPHENSG00000089472Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Hephl1 / Q3V1H3 / Hephaestin-like protein 1 / Q6MZM0* / hephaestin like 1*ENSMUSG0000003193649
Cp / Q61147 / Ceruloplasmin / P00450*ENSMUSG0000000361745
F8 / Q06194 / Coagulation factor VIII / P00451*ENSMUSG0000003119634
F5 / O88783 / Coagulation factor V Coagulation factor V heavy chain Coagulation factor V light chain / P12259* / coagulation factor V*ENSMUSG0000002657933
Dcbld2 / Q91ZV3 / Mus musculus discoidin, CUB and LCCL domain containing 2 (Dcbld2), transcript variant 2, mRNA. / Q96PD2* / discoidin, CUB and LCCL domain containing 2*ENSMUSG000000351076
Nrp2 / O35375 / Neuropilin-2 / O60462*ENSMUSG000000259696
Nrp1 / P97333 / Neuropilin-1 / O14786*ENSMUSG000000258106
Dcbld1 / Q9D4J3 / Mus musculus discoidin, CUB and LCCL domain containing 1 (Dcbld1), transcript variant 2, mRNA. / Q8N8Z6* / discoidin, CUB and LCCL domain containing 1*ENSMUSG000000198915
Mfge8 / P21956 / milk fat globule-EGF factor 8 protein / Q08431*ENSMUSG000000306054
Edil3 / O35474 / EGF-like repeat and discoidin I-like domain-containing protein 3 / O43854* / EGF like repeats and discoidin domains 3*ENSMUSG000000344884
Rs1 / Q9Z1L4 / retinoschisis (X-linked, juvenile) 1 (human) / O15537* / retinoschisin 1*ENSMUSG000000312933


Protein motifs (from Interpro)
Interpro ID Name
 IPR002355  Multicopper oxidase, copper-binding site
 IPR008972  Cupredoxin
 IPR011706  Multicopper oxidase, type 2
 IPR011707  Multicopper oxidase, type 3
 IPR024715  Coagulation factor 5/8-like
 IPR027154  Hephaestin
 IPR033138  Multicopper oxidases, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006825 copper ion transport IEA
 biological_processGO:0006826 iron ion transport TAS
 biological_processGO:0006879 cellular iron ion homeostasis IEA
 biological_processGO:0055072 iron ion homeostasis IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005622 intracellular ISO
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane ISO
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 molecular_functionGO:0004322 ferroxidase activity ISO
 molecular_functionGO:0005507 copper ion binding ISO
 molecular_functionGO:0008198 ferrous iron binding ISO
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Metal ion SLC transporters
Iron uptake and transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000208 decreased hematocrit "less than the average percentage of a volume of a blood sample occupied by red blood cells" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Y
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Hephsla/Y
Genetic Background: Not Specified

 MP:0000248 macrocytosis "condition in which erythrocytes are larger than normal in size" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Y
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Hephsla/Y
Genetic Background: Not Specified

 MP:0000367 abnormal coat/ hair morphology "anomalous color, structure, growth, or texture of the hair" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Dmdmdx/Dmdmdx
Genetic Background: involves: C57BL/10ScSn * CB17

 MP:0001325 abnormal retina morphology "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Y
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001326 retinal degeneration "pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
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Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Y
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001577 anemia "less than normal levels of red blood cells, hemoglobin or volume of packed red blood cells " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]
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Allelic Composition: Grin1tm2Blt/Grin1tm2Blt
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Hephsla/Y
Genetic Background: B6.Cg-Hephsla

Allelic Composition: Hephsla/Hephsla
Genetic Background: B6.Cg-Hephsla

Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephtm1.2Jdun/Hephtm1.2Jdun
Genetic Background: involves: 129X1/SvJ * C57BL/6 * C57BL/6NTac

 MP:0001770 abnormal iron level "anomalous concentrations of this metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins; it is an essential component of enzymes such as catalase, peroxidase, and various cytochromes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Foxg1tm1M/Foxg1+
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: Hephsla/Y
Genetic Background: B6.Cg-Hephsla

Allelic Composition: Hephsla/Hephsla
Genetic Background: B6.Cg-Hephsla

Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephtm1.2Jdun/Hephtm1.2Jdun
Genetic Background: involves: 129X1/SvJ * C57BL/6 * C57BL/6NTac

Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephtm1.1Jdun/Hephtm1.1Jdun,Tg(BEST1-cre)1Jdun/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * C57BL/6NTac

Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephtm1.1Jdun/Hephtm1.1Jdun,Tg(BEST1-cre)1Jdun/0,Tg(Rho-cre)#Yzl/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * C57BL/6NTac

Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Hephsla
Genetic Background: involves: 129X1/SvJ

 MP:0001851 eye inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the eye" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Y
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0002123 abnormal hematopoiesis "abnormal development of the enucleated fetal and adult erythrocytes that develop in the aorta, genital ridge and mesonephros region and later in the fetal and adult liver" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Y
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Brca1tm1Brn/Brca1tm1Brn,Tg(Krt18-EGFP,-TAg121)36Ysng/0,Trp53tm1Brn/Trp53tm1Brn
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2 * FVB/N

 MP:0002229 CNS neurodegeneration "a retrogressive impairment of function or destruction of neural tissue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephtm1.2Jdun/Hephtm1.2Jdun
Genetic Background: involves: 129X1/SvJ * C57BL/6 * C57BL/6NTac

 MP:0002447 abnormal erythrocyte morphology "structural anomaly of the cells in the blood that carry oxygen, red blood cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Y
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0002591 decreased mean corpuscular volume "less than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Y
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Hephsla/Y
Genetic Background: Not Specified

 MP:0002641 anisopoikilocytosis "presence in blood of RBCs of abnormal shapes and sizes" [J:78271, cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator]
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Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Y
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Hephsla/Y
Genetic Background: Not Specified

 MP:0002813 microcytosis "the presence of unusually small erythrocytes in the circulating blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Y
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Hephsla/Y
Genetic Background: Not Specified

 MP:0002874 decreased hemoglobin content "decrease in the total hemoglobin content in the circulating blood" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Y
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Hephsla/Y
Genetic Background: B6.Cg-Hephsla

Allelic Composition: Hephsla/Hephsla
Genetic Background: B6.Cg-Hephsla

Allelic Composition: Hephsla/Y
Genetic Background: Not Specified

 MP:0002875 decreased erythrocyte count "reduced number of the cells in the blood that carry oxygen, red blood cells, per unit" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Y
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Hephsla/Y
Genetic Background: Not Specified

 MP:0004151 hypoferremia "less than the normal concentration of this metallic element in the blood" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Hephsla
Genetic Background: involves: 129X1/SvJ

 MP:0004265 abnormal placental transport "anomaly in the conveyance of metabolic products and nutrients across the placenta" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Hephsla/Y
Genetic Background: B6.Cg-Hephsla

Allelic Composition: Hephsla/Hephsla
Genetic Background: B6.Cg-Hephsla

 MP:0005097 polychromatophilia "condition characterized by the presence of red blood cells that have an affinity for acid, basic, and neutral stains" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:305]
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Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Y
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Hephsla/Y
Genetic Background: Not Specified

 MP:0005098 abnormal choroid morphology "anomalous structure of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Y
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0005103 abnormal retinal pigmentation "anomalous coloring of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Y
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0005201 abnormal retinal pigment epithelium morphology "anomaly in the epithelial layer of the retina composed of cells containing pigment granules " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Y
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephtm1.1Jdun/Hephtm1.1Jdun,Tg(BEST1-cre)1Jdun/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * C57BL/6NTac

Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Hephsla
Genetic Background: involves: 129X1/SvJ

 MP:0005239 abnormal Bruch membrane morphology "anomalous structure of the transparent, nearly structureless inner layer of the choroid in contact with the pigmented layer of the retina" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Y
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0005548 retinal pigment epithelium atrophy "wasting or decreased size of the epithelial layer of the retina composed of cells containing pigment granules " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephtm1.1Jdun/Hephtm1.1Jdun,Tg(BEST1-cre)1Jdun/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * C57BL/6NTac

 MP:0005549 retinal pigment epithelium hyperplasia "increased numbers of cells in the epithelial layer of the retina composed of cells containing pigment granules " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Y
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0005562 decreased mean corpuscular hemoglobin "less than the average levels of hemoglobin contained in an erythrocyte" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Y
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Hephsla/Y
Genetic Background: Not Specified

 MP:0005637 abnormal iron homeostasis "anomaly in the state of equilibrium in the body with respect to this metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins; it is an essential component of enzymes such as catalase, peroxidase, and various cytochromes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:64456]
Show

Allelic Composition: Hephsla/Y
Genetic Background: B6.Cg-Hephsla

 MP:0005642 decreased mean corpuscular hemoglobin concentration "less than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:8936]
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Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Y
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0008387 hypochromic anemia "hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, resulting in insufficient oxygenation of tissues and organs" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Y
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Hephsla/Y
Genetic Background: Not Specified

 MP:0008450 retinal photoreceptor degeneration "a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina" [MESH:A08.663.650.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Y
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0008469 abnormal protein level "anomaly in the amount of any of the macromolecules consisting of long chains of amino acids in peptide linkage" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephtm1.1Jdun/Hephtm1.1Jdun,Tg(BEST1-cre)1Jdun/0,Tg(Rho-cre)#Yzl/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * C57BL/6NTac

 MP:0008807 increased liver iron level "increase in the amount of iron present in the liver tissue" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: B2mtm1Unc/B2mtm1Unc,Hfetm2Nca/Hfetm2Nca
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

Allelic Composition: Hephsla/Y,Hfetm2Nca/Hfetm2Nca
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0008852 retinal neovascularization "formation of new blood vessels originating from the retinal veins and extending along the inner (vitreal) surface of the retina" [MESH:C11.768.725]
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Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Y
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0011188 increased erythrocyte protoporphyrin level "an accumulation of the intermediates of heme biosynthesis in red blood cells" [MGI:csmith]
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Allelic Composition: Ank1nb/Ank1+
Genetic Background: involves: C57BL/6J * WB/Re

 MP:0014175 abnormal ciliary epithelium morphology "any structural anomaly of the double layer lining the inner surfaces of the ciliary processes and the pars plana (i.e. the posterior portion of the ciliary body, aka orbicularis ciliari); the outer layer is the pigmented epithelium, which is composed of low cuboidal cells and is adjacent to the stroma and continuous with the retinal pigmented epithelium; the inner layer is formed by non-pigmented epithelium, a columnar epithelium, adjacent to the aqueous humor in the posterior chamber and continuous with the retina; these two layers of the epithelium are appositioned in their apical surfaces" [http://cdn.intechopen.com/pdfs-wm/41830.pdf]
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Allelic Composition: Cptm1Hrs/Cptm1Hrs,Hephsla/Y
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0020369 increased intestinal iron level "increase in the amount of iron present in the large or small intestinal tissue" [MGI:Anna]
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Allelic Composition: Hephsla/Hephsla,Hfetm2Nca/Hfetm2Nca
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

Allelic Composition: Hephsla/Y,Hfetm2Nca/Hfetm2Nca
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

Allelic Composition: Hephsla/Hephsla
Genetic Background: involves: C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000025993 Q9JHI9 / Slc40a1 / solute carrier family 40 (iron-regulated transporter), member 1 / Q9NP59* / solute carrier family 40 member 1*  / complex






 

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