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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 Mineral absorption and Insulin receptor recycling. 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
- HGNC(10909)
- Entrez Gene(30061)
- Ensembl(ENSG00000138449)
- OMIM(604653)
- UniProtKB(Q9NP59)
- Open Targets Platform(ENSG00000138449)
- 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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC40A1
- 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
- chr2:189,560,590-189,583,758
- (GRCh38/hg38)
- Size:
- 23,169 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
-
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)
- Sino Biological Antibodies for SLC40A1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SLC40A1
- Origene Custom Protein Services for SLC40A1
-
Signalway Proteins for SLC40A1
-
Abcam proteins for SLC40A1
Assay Products
- 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
- InterPro:
- Blocks:
-
- Ferroportin1
- 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 | IEA,ISS | -- |
| GO:0005515 | protein binding | IPI | 20817278 |
| GO:0015093 | ferrous iron transmembrane transporter activity | IEA,ISS | -- |
| 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
- nervous system phenotype
- immune system phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- renal/urinary system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- hematopoietic system phenotype
- integument phenotype
- embryo 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
- 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
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SLC40A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC40A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC40A1
miRNA for SLC40A1 Gene
- miRTarBase miRNAs that target SLC40A1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, 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
Clone 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
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SLC40A1
- Addgene plasmids for SLC40A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC40A1
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 | 2 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| lysosome | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| golgi apparatus | 1 |
- Plasma membrane (3)
- Cytosol (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005623 | cell | IEA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | TAS | 10747949 |
| GO:0005829 | cytosol | IDA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
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
Transcripts for SLC40A1 Gene
mRNA/cDNA for SLC40A1 Gene
- 1 REFSEQ mRNAs :
- 21 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000261024 3330 nts (view in UCSC)
- ENST00000418714 712 nts (view in UCSC)
- ENST00000427241 824 nts (view in UCSC)
- ENST00000427419 299 nts (view in UCSC)
- ENST00000440626 209 nts (view in UCSC)
CRISPR 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
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SLC40A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC40A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC40A1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, 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
Clone 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
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SLC40A1
- Addgene plasmids for SLC40A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC40A1
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||
| SP5: | - |
Relevant External Links for SLC40A1 Gene
- GeneLoc Exon Structure for
- SLC40A1
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC40A1
SOURCE 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(4.6)
- Liver(4.1)
- Muscle(4.1)
- Nervous system(3.8)
- Stomach(3.8)
- Spleen(3.5)
- Intestine(3.4)
- Kidney(3.1)
- Lung(3.1)
- Adrenal gland(2.9)
- Heart(2.9)
- Pancreas(2.7)
- Lymph node(2.7)
- Bone marrow(2.7)
- Thyroid gland(2.3)
- Skin(2.2)
- Gall bladder(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
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 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SLC40A1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SLC40A1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Slc40a1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Slc40a1 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | SLC40A1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC40A1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SLC40A1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SLC40A1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc40a1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | slc40a1 30 31 |
|
OneToOne | |
| -- 30 |
|
||||
| Worm (Caenorhabditis elegans) |
Secernentea | fpn-1.1 31 |
|
OneToMany | |
| fpn-1.2 31 |
|
OneToMany | |||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | IREG2 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os06g0560000 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for SLC40A1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC40A1 Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 5414 | Pathogenic: Hemochromatosis type 4 | 189,571,741(-) | GCAA/G | INFRAME_DELETION | |
| 695283 | Benign: Hemochromatosis type 4 | 189,563,692(-) | T/C | MISSENSE_VARIANT | |
| 696316 | Likely Benign: not provided | 189,564,074(-) | G/A | SYNONYMOUS_VARIANT | |
| 696708 | Benign: Hemochromatosis type 4; not provided | 189,575,240(-) | G/A | SYNONYMOUS_VARIANT | |
| 698027 | Benign: Hemochromatosis type 4 | 189,563,658(-) | G/A | 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
(30) MalaCards diseases for SLC40A1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hemochromatosis, type 4 |
|
|
| hemochromatosis, type 1 |
|
|
| siderosis |
|
|
| hemochromatosis, type 2a |
|
|
| iron metabolism disease |
|
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
- Open Targets Platform
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 41
- 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 41
- Does the SLC40A1 gene modify HFE-related haemochromatosis phenotypes? (PMID: 18820912) Altès A … Baiget M (Annals of hematology 2009) 3 23 41
- Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. (PMID: 17847004) Milet J … Mosser J (American journal of human genetics 2007) 3 23 41
- 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 41
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Products for SLC40A1 Gene
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Sources for SLC40A1 Gene
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