ENSG00000138449


Homo sapiens

Features
Gene ID: ENSG00000138449
  
Biological name :SLC40A1
  
Synonyms : Q9NP59 / SLC40A1 / solute carrier family 40 member 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q32.2
Gene start: 189560579
Gene end: 189583758
  
Corresponding Affymetrix probe sets: 223044_at (Human Genome U133 Plus 2.0 Array)   233123_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000390005
Ensembl peptide - ENSP00000413549
Ensembl peptide - ENSP00000396134
Ensembl peptide - ENSP00000392730
Ensembl peptide - ENSP00000261024
NCBI entrez gene - 30061     See in Manteia.
OMIM - 604653
RefSeq - XM_005246505
RefSeq - XM_017003938
RefSeq - NM_014585
RefSeq Peptide - NP_055400
swissprot - Q4PNE6
swissprot - Q9NP59
swissprot - E7ES28
swissprot - E7EQF8
Ensembl - ENSG00000138449
  
Related genetic diseases (OMIM): 606069 - Hemochromatosis, type 4, 606069
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
 slc40a1ENSDARG00000000241Danio rerio
 SLC40A1ENSGALG00000043618Gallus gallus
 Q9JHI9ENSMUSG00000025993Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR009716  Ferroporti-1
 IPR036259  MFS transporter superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002260 lymphocyte homeostasis IEA
 biological_processGO:0003158 endothelium development IEA
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006826 iron ion transport IEA
 biological_processGO:0006879 cellular iron ion homeostasis IMP
 biological_processGO:0034395 regulation of transcription from RNA polymerase II promoter in response to iron IEA
 biological_processGO:0034755 iron ion transmembrane transport IEA
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048536 spleen development IEA
 biological_processGO:0055072 iron ion homeostasis IEA
 biological_processGO:0060345 spleen trabecula formation IEA
 biological_processGO:0060586 multicellular organismal iron ion homeostasis IEA
 biological_processGO:1903988 ferrous iron export across plasma membrane IEA
 cellular_componentGO:0005622 intracellular IDA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm TAS
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IC
 cellular_componentGO:0008021 synaptic vesicle IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 molecular_functionGO:0005381 iron ion transmembrane transporter activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015093 ferrous iron transmembrane transporter activity IEA
 molecular_functionGO:0017046 peptide hormone binding IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0097689 iron channel activity IEA


Pathways (from Reactome)
Pathway description
Metal ion SLC transporters
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages)
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum)
Iron uptake and transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0000802 Impotence 
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 HP:0000833 Glucose intolerance 
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 HP:0001373 Joint dislocation "Displacement or malalignment of joints." [HPO:curators]
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 HP:0001376 Decreased mobility of joints 
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 HP:0001386 Joint swelling 
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 HP:0001394 Cirrhosis 
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 HP:0001397 Hepatic steatosis 
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 HP:0001638 Cardiomyopathy 
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 HP:0002027 Abdominal pain 
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 HP:0002612 Congenital hepatic fibrosis 
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 HP:0002758 Osteoarthritis 
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 HP:0002829 Arthralgia 
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 HP:0003281 Increased serum ferritin 
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 HP:0007440 Generalized hyperpigmentation 
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 HP:0011675 Arrhythmia "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792]
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000047457 CP / P00450 / ceruloplasmin  / complex
 ENSG00000089472 HEPH / Q9BQS7 / hephaestin  / complex






 

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