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The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008] See more...
Aliases for SLC40A1 Gene
Aliases for SLC40A1 Gene
External Ids for SLC40A1 Gene
- HGNC: 10909
- Entrez Gene: 30061
- Ensembl: ENSG00000138449
- OMIM: 604653
- UniProtKB: Q9NP59
Previous HGNC Symbols for SLC40A1 Gene
- SLC11A3
Previous GeneCards Identifiers for SLC40A1 Gene
- GC02M190389
- GC02M190627
- GC02M190250
- GC02M190133
- GC02M182284
Summaries for SLC40A1 Gene
-
The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008]
GeneCards Summary for SLC40A1 Gene
SLC40A1 (Solute Carrier Family 40 Member 1) is a Protein Coding gene. Diseases associated with SLC40A1 include Hemochromatosis, Type 4 and Hemochromatosis, Type 1. Among its related pathways are Insulin receptor recycling and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include iron ion transmembrane transporter activity.
UniProtKB/Swiss-Prot Summary for SLC40A1 Gene
-
May be involved in iron export from duodenal epithelial cell and also in transfer of iron between maternal and fetal circulation. Mediates iron efflux in the presence of a ferroxidase (hephaestin and/or ceruloplasmin).
Additional gene information for SLC40A1 Gene
- Monarch Initiative
- Search for SLC40A1 at DataMed
- Search for SLC40A1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC40A1 Gene
Genomics for SLC40A1 Gene
GeneHancer (GH) Regulatory Elements for SLC40A1 Gene
Promoters and enhancers for SLC40A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SLC40A1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the SLC40A1 gene promoter:
-
- AREB6
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
- GATA-1
- GATA-2
- GATA-3
Genomic Locations for SLC40A1 Gene
Genomic Locations for SLC40A1 Gene
- chr2:189,560,579-189,583,758
- (GRCh38/hg38)
- Size:
- 23,180 bases
- Orientation:
- Minus strand
- chr2:190,425,305-190,448,484
- (GRCh37/hg19)
- Size:
- 23,180 bases
- Orientation:
- Minus strand
Genomic View for SLC40A1 Gene
Genes around SLC40A1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q32.2 by HGNC
- 2q32.2 by Entrez Gene
- 2q32.2 by Ensembl
SLC40A1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SLC40A1 Gene
Proteins for SLC40A1 Gene
-
Protein details for SLC40A1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NP59-S40A1_HUMAN
- Recommended name:
- Solute carrier family 40 member 1
- Protein Accession:
- Q9NP59
- Q6FI62
- Q7Z4F8
- Q8IVB2
- Q9NRL0
Protein attributes for SLC40A1 Gene
- Size:
- 571 amino acids
- Molecular mass:
- 62542 Da
- Quaternary structure:
-
- Identified in a complex with STOM.
Protein Expression for SLC40A1 Gene
Post-translational modifications for SLC40A1 Gene
Other Protein References for SLC40A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Atlas Antibodies Anti-SLC40A1 Antibody
- Alomone Labs, Ltd. Anti-Ferroportin (SLC40A1) Antibody
- Creative Diagnostics Anti-SLC40A1 monoclonal antibody, clone nBcdbn04549 and Anti-SLC40A1 polyclonal antibody
-
Creative Biolabs
- Afuco™ Anti-Human SLC40A1 ADCC Therapeutic Antibody (LY2928057), ADCC Enhanced
- Anti-Human SLC40A1 Therapeutic Antibody (31A5)
- Anti-Human SLC40A1 Therapeutic Antibody (LY2928057)
- Anti-Human SLC40A1 Therapeutic Antibody Fab Fragment (31A5)
- Anti-Human SLC40A1 Therapeutic Antibody Fab Fragment (37A2 )
- Anti-Human SLC40A1 Therapeutic Antibody (37A2 )
- Mouse Anti-SLC40A1 Monoclnal Antibody (Y33C)
- Mouse Anti-SLC40A1 Recombinant Antibody (CBXF-2486)
- Mouse Anti-SLC40A1 Recombinant Antibody (CBXF-2429)
- Mouse Anti-SLC40A1 Recombinant Antibody (CBXS-6139)
- GeneTex Anti-Ferroportin 1 antibody
-
Custom Antibody ServicesOriGene Antibodies for SLC40A1
- Novus Biologicals Antibodies for SLC40A1
-
Abcam antibodies for SLC40A1
- Invitrogen Antibodies for SLC40A1 (AFLGC-SLC40A1)
- antibodies-online: Show 12 available SLC40A1 Antibodies ranked by validation data
- Compare Top SLC40A1 Antibodies
-
Recommended
- 74 WB Antibodies (anti-human)
- 18 FACS Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IHC Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 1 IF/ICC Antibody (anti-human)
- 12 IF (p) Antibodies (anti-rat)
- 8 WB Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
- 30 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 FACS Antibody (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SLC40A1
- Origene Custom Protein Services for SLC40A1
-
Abcam proteins for SLC40A1
Assay Products
- Aviva Systems Biology SLC40A1 ELISA Kit (Human) (OKEH01177) and SLC40A1 ELISA Kit (Human) (OKCD08155)
- antibodies-online: Show 53 available SLC40A1 Elisa Kits ranked by validation data
- Compare Top SLC40A1 Elisa Kits
-
Quality Products:
- ABIN823347
- ABIN418184
- ABIN1569896
- ABIN4947554
- ABIN5523754
- ABIN5519115
- ABIN5594049
- ABIN1053626
- ABIN5654129
- ABIN5654128
- ABIN425685
- ABIN823348
- ABIN1569897
- ABIN5523755
- ABIN4993455
- ABIN1053628
- ABIN5654130
- ABIN2533294
- ABIN4969073
- ABIN6223556
- ABIN577931
- ABIN416524
- ABIN1569898
- ABIN5523756
- ABIN5519257
- ABIN1053631
- ABIN5654131
- ABIN2533295
- ABIN4969074
- ABIN6223559
No data available for DME Specific Peptides for SLC40A1 Gene
Domains & Families for SLC40A1 Gene
Gene Families for SLC40A1 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
- Transporters
Protein Domains for SLC40A1 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SLC40A1 Gene
- GenScript: Design optimal peptide antigens:
-
- Solute carrier family 40 (D7GLE3_HUMAN)
- Putative ferroportin 1 variant IIIB (Q4PNE3_HUMAN)
- Putative ferroportin 1 variant IIIA (Q4PNE4_HUMAN)
- Solute carrier family 40 (Iron-regulated transporter), member 1 variant (Q53FP6_HUMAN)
- cDNA, FLJ95707, Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3 (SLC11A3), mRNA (Q6FI62_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9NP59UniProtKB/Swiss-Prot:
S40A1_HUMAN :- Belongs to the ferroportin (FP) (TC 2.A.100) family. SLC40A subfamily.
- Family:
-
- Belongs to the ferroportin (FP) (TC 2.A.100) family. SLC40A subfamily.
Function for SLC40A1 Gene
Molecular function for SLC40A1 Gene
- UniProtKB/Swiss-Prot Function:
- May be involved in iron export from duodenal epithelial cell and also in transfer of iron between maternal and fetal circulation. Mediates iron efflux in the presence of a ferroxidase (hephaestin and/or ceruloplasmin).
Phenotypes From GWAS Catalog for SLC40A1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005381 | iron ion transmembrane transporter activity | ISS,IEA | -- |
| GO:0005515 | protein binding | IPI | 20817278 |
| GO:0015093 | ferrous iron transmembrane transporter activity | ISS,IEA | -- |
| GO:0017046 | peptide hormone binding | IEA,IPI | 22682227 |
| GO:0042802 | identical protein binding | IEA | -- |
Phenotypes for SLC40A1 Gene
- MGI mutant phenotypes for SLC40A1:
-
inferred from 7 alleles
- cardiovascular system phenotype
- limbs/digits/tail phenotype
- vision/eye phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- liver/biliary system phenotype
- skeleton phenotype
- embryo phenotype
- renal/urinary system phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for SLC40A1:
Animal Models for SLC40A1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for SLC40A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC40A1
- genomics-online: gRNA clones - Search results for available SLC40A1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for SLC40A1 - Select products 50% OFF >
- * SLC40A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * SLC40A1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC40A1
miRNA for SLC40A1 Gene
- miRTarBase miRNAs that target SLC40A1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for SLC40A1
- Browse OriGene Inhibitory RNA Products For SLC40A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC40A1
- genomics-online: shRNA clones - Search results for available SLC40A1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for SLC40A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC40A1
- genomics-online: cdna clones - Search results for available SLC40A1 gene related products
- orf clones - Search results for available SLC40A1 gene related products
- Applied Biological Materials (abm): Clones for SLC40A1 - Select products 50% OFF >
- * SLC40A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * SLC40A1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for SLC40A1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC40A1 Gene
Localization for SLC40A1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SLC40A1 Gene
- Cell membrane; Multi-pass membrane protein. Note=Localized to the basolateral membrane of polarized epithelial cells.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 4 |
| cytosol | 4 |
| extracellular | 2 |
| mitochondrion | 1 |
| endosome | 1 |
| lysosome | 1 |
- Plasma membrane (3)
- Cytosol (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | TAS | 10747949 |
| GO:0005829 | cytosol | IDA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | IC | 12091367 |
Pathways & Interactions for SLC40A1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
| 2 | Ferroptosis | ||
| 3 | Mineral absorption | ||
| 4 | Insulin receptor recycling | ||
| 5 | Metal ion SLC transporters | ||
Pathways by source for SLC40A1 Gene
1 BioSystems pathway for SLC40A1 Gene
2 KEGG pathways for SLC40A1 Gene
Interacting Proteins for SLC40A1 Gene
Selected Interacting proteins:
Q9NP59-S40A1_HUMAN
ENSP00000261024
for SLC40A1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for SLC40A1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002260 | lymphocyte homeostasis | IEA | -- |
| GO:0003158 | endothelium development | IEA | -- |
| GO:0006811 | ion transport | IEA | -- |
| GO:0006826 | iron ion transport | IEA | -- |
| GO:0006879 | cellular iron ion homeostasis | IMP,TAS | -- |
No data available for SIGNOR curated interactions for SLC40A1 Gene
Drugs & Compounds for SLC40A1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Iron | Approved, Experimental | Pharma | 1452 |
Transcripts for SLC40A1 Gene
mRNA/cDNA for SLC40A1 Gene
- (1) REFSEQ mRNAs :
- (21) Additional mRNA sequences :
- (599) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000261024 3442 bps (ENST00000261024.6)
- ENST00000418714 712 bps (ENST00000418714.1)
- ENST00000427241 824 bps (ENST00000427241.5)
- ENST00000427419 299 bps (ENST00000427419.5)
- ENST00000440626 209 bps (ENST00000440626.1)
CRISPR Products
-
OriGene CRISPR knockouts for SLC40A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC40A1
- genomics-online: gRNA clones - Search results for available SLC40A1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for SLC40A1 - Select products 50% OFF >
- * SLC40A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * SLC40A1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC40A1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for SLC40A1
- Browse OriGene Inhibitory RNA Products For SLC40A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC40A1
- genomics-online: shRNA clones - Search results for available SLC40A1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for SLC40A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC40A1
- genomics-online: cdna clones - Search results for available SLC40A1 gene related products
- orf clones - Search results for available SLC40A1 gene related products
- Applied Biological Materials (abm): Clones for SLC40A1 - Select products 50% OFF >
- * SLC40A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * SLC40A1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||
| SP5: | - |
Expression for SLC40A1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- NULL (Uncategorized)
-
Blood (Hematopoietic System)
- Monocytes Peripheral Blood
- Hematopoietic Stem Cells Aorta-Gonad-Mesonephros
-
Hypoblast (Extraembryonic Tissues)
- Extraembryonic Visceral Endoderm Cells Extraembryonic Visceral Endoderm
- Extraembryonic Visceral Endoderm
-
Lateral Plate Mesoderm (Gastrulation Derivatives)
- Hematopoietic Stem Cells Aorta-Gonad-Mesonephros
- PureStem SM30, NCr-fac & Meso-latp Progenitor
- Placenta (Extraembryonic Tissues)
- Gonad
- Kidney (Urinary System)
- Neural Crest (Gastrulation Derivatives)
-
Yolk Sac (Extraembryonic Tissues)
- Extraembryonic Visceral Endoderm Cells Extraembryonic Visceral Endoderm
- Bone (Muscoskeletal System)
- Liver (Hepatobiliary System)
- Trophoblast (Extraembryonic Tissues)
- Germ Cells (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for SLC40A1 Gene
This gene is overexpressed in Adrenal Gland (x9.7) and Spleen (x4.0).
This gene is overexpressed in Placenta (51.2) and Fetal Liver (10.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC40A1 Gene
NURSA nuclear receptor signaling pathways regulating expression of SLC40A1 Gene:
SLC40A1SOURCE GeneReport for Unigene cluster for SLC40A1 Gene:
Hs.643005mRNA Expression by UniProt/SwissProt for SLC40A1 Gene:
Q9NP59-S40A1_HUMAN
Tissue specificity:
Detected in erythrocytes (at protein level). Expressed in placenta, intestine, muscle and spleen.
Evidence on tissue expression from TISSUES for SLC40A1 Gene
- Blood(4.5)
- Liver(3.9)
- Muscle(3.8)
- Nervous system(3.6)
- Stomach(3.3)
- Spleen(3.2)
- Intestine(3.1)
- Lung(2.8)
- Kidney(2.5)
- Adrenal gland(2.2)
- Heart(2.2)
- Gall bladder(2)
- Lymph node(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC40A1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- skeleton
Regions:
Abdomen:
- liver
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- blood
- bone marrow
- red blood cell
- skin
Primer Products
-
OriGene qPCR primer pairs for SLC40A1
-
OriGene qPCR primer pairs and template standards for SLC40A1
- genomics-online: primer clones - Search results for available SLC40A1 gene related products
Gene Expression Assay Products
Orthologs for SLC40A1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SLC40A1 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | SLC40A1 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SLC40A1 33 32 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Slc40a1 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Slc40a1 32 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SLC40A1 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | SLC40A1 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SLC40A1 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | SLC40A1 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | slc40a1 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | slc40a1 33 32 |
|
OneToOne | |
| -- 32 |
|
||||
| worm (Caenorhabditis elegans) |
Secernentea | fpn-1.1 33 |
|
OneToMany | |
| fpn-1.2 33 |
|
OneToMany | |||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | IREG2 32 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os06g0560000 32 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToOne |
- Species where no ortholog for SLC40A1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for SLC40A1 Gene
- ENSEMBL:
- Gene Tree for SLC40A1 (if available)
- TreeFam:
- Gene Tree for SLC40A1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SLC40A1: view image
Paralogs for SLC40A1 Gene
(1) SIMAP similar genes for SLC40A1 Gene using alignment to 9 proteins:
- S40A1_HUMAN
- D7GLE3_HUMAN
- E7EQF8_HUMAN
- E7ES28_HUMAN
- Q4PNE2_HUMAN
- Q4PNE3_HUMAN
- Q4PNE4_HUMAN
- Q4PNE6_HUMAN
- Q53FP6_HUMAN
Pseudogenes.org Pseudogenes for SLC40A1 Gene
No data available for Paralogs for SLC40A1 Gene
Variants for SLC40A1 Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs104893662 | uncertain-significance, pathogenic, Hemochromatosis type 4, Hemochromatosis 4 (HFE4) [MIM:606069] | 189,571,799(-) | T/A/G | coding_sequence_variant, missense_variant | |
| rs104893663 | pathogenic, Hemochromatosis type 4, Hemochromatosis 4 (HFE4) [MIM:606069] | 189,571,759(-) | T/A/C | coding_sequence_variant, missense_variant | |
| rs104893664 | pathogenic, Hemochromatosis type 4, Hemochromatosis 4 (HFE4) [MIM:606069] | 189,564,186(-) | C/T | coding_sequence_variant, missense_variant | |
| rs104893670 | pathogenic, Hemochromatosis type 4, Hemochromatosis 4 (HFE4) [MIM:606069] | 189,565,568(-) | C/A/T | coding_sequence_variant, missense_variant, synonymous_variant | |
| rs104893671 | pathogenic, Hemochromatosis type 4, Hemochromatosis 4 (HFE4) [MIM:606069] | 189,564,018(-) | C/A | coding_sequence_variant, missense_variant |
Residual Variation Intolerance Score:
60.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.69;
46.14% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SLC40A1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC40A1 Gene
Disorders for SLC40A1 Gene
(17) MalaCards diseases for SLC40A1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hemochromatosis, type 4 |
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| hemochromatosis, type 1 |
|
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| siderosis |
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| iron metabolism disease |
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| hemochromatosis, type 2a |
|
Search SLC40A1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
S40A1_HUMAN- Hemochromatosis 4 (HFE4) [MIM:606069]: A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. {ECO:0000269 PubMed:10747949, ECO:0000269 PubMed:11431687, ECO:0000269 PubMed:11518736, ECO:0000269 PubMed:12091366, ECO:0000269 PubMed:12091367, ECO:0000269 PubMed:12123233, ECO:0000269 PubMed:12406098, ECO:0000269 PubMed:12730114, ECO:0000269 PubMed:12857562, ECO:0000269 PubMed:12865285, ECO:0000269 PubMed:15338274, ECO:0000269 PubMed:15466004, ECO:0000269 PubMed:16351644}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SLC40A1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SLC40A1 Gene
Publications for SLC40A1 Gene
- Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. (PMID: 11518736) Montosi G … Pietrangelo A (The Journal of clinical investigation 2001) 3 4 23 43 56
- DNA-array of gene variants in venous leg ulcers: detection of prognostic indicators. (PMID: 19958990) Gemmati D … Zamboni P (Journal of vascular surgery 2009) 3 23 43 56
- Does the SLC40A1 gene modify HFE-related haemochromatosis phenotypes? (PMID: 18820912) Altès A … Baiget M (Annals of hematology 2009) 3 23 43 56
- H63D homozygotes with hyperferritinaemia: Is this genotype, the primary cause of iron overload? (PMID: 17042772) de Diego C … Martínez-Castro P (European journal of haematology 2007) 3 23 43 56
- Investigation of genetic variants of genes of the hemochromatosis pathway and their role in breast cancer. (PMID: 15894659) Abraham BK … GENICA Network (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2005) 3 23 43 56
ExternalLinks
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