ENSG00000089472


Homo sapiens

Features
Gene ID: ENSG00000089472
  
Biological name :HEPH
  
Synonyms : HEPH / hephaestin / Q9BQS7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: q12
Gene start: 66162549
Gene end: 66268867
  
Corresponding Affymetrix probe sets: 203902_at (Human Genome U133 Plus 2.0 Array)   203903_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000411687
Ensembl peptide - ENSP00000398078
Ensembl peptide - ENSP00000413211
Ensembl peptide - ENSP00000430620
Ensembl peptide - ENSP00000337418
Ensembl peptide - ENSP00000343939
Ensembl peptide - ENSP00000392319
Ensembl peptide - ENSP00000396907
NCBI entrez gene - 9843     See in Manteia.
OMIM - 300167
RefSeq - XM_017030003
RefSeq - NM_014799
RefSeq - NM_138737
RefSeq - XM_006724722
RefSeq - XM_011531073
RefSeq - XM_011531074
RefSeq - XM_011531075
RefSeq - XM_017029998
RefSeq - XM_017029999
RefSeq - XM_017030000
RefSeq - XM_017030001
RefSeq - XM_017030002
RefSeq - NM_001130860
RefSeq - NM_001282141
RefSeq Peptide - NP_001269070
RefSeq Peptide - NP_055614
RefSeq Peptide - NP_620074
RefSeq Peptide - NP_001124332
swissprot - Q9BQS7
swissprot - A0A0C4DG76
swissprot - E7ES21
swissprot - Q1HE23
swissprot - F8WBZ8
swissprot - Q5JZ07
swissprot - Q5JZ08
Ensembl - ENSG00000089472
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hephl1bENSDARG00000026403Danio rerio
 HEPHENSGALG00000037410Gallus gallus
 HephENSMUSG00000031209Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HEPHL1 / Q6MZM0 / hephaestin like 1ENSG0000018133347
CP / P00450 / ceruloplasminENSG0000004745742
F8 / P00451 / coagulation factor VIIIENSG0000018501033
F5 / P12259 / coagulation factor VENSG0000019873432
NRP2 / O60462 / neuropilin 2ENSG000001182576
DCBLD2 / Q96PD2 / discoidin, CUB and LCCL domain containing 2ENSG000000570196
DCBLD1 / Q8N8Z6 / discoidin, CUB and LCCL domain containing 1ENSG000001644655
NRP1 / O14786 / neuropilin 1ENSG000000992505
EDIL3 / O43854 / EGF like repeats and discoidin domains 3ENSG000001641764
RS1 / O15537 / retinoschisin 1ENSG000001021043
MFGE8 / Q08431 / milk fat globule-EGF factor 8 proteinENSG000001405452


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
 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 IEA
 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 IDA
 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 IDA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 molecular_functionGO:0004322 ferroxidase activity IMP
 molecular_functionGO:0005507 copper ion binding IEA
 molecular_functionGO:0008198 ferrous iron binding IMP
 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
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000138449 Q9NP59 / SLC40A1 / solute carrier family 40 member 1  / complex






 

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