Free for academic non-profit institutions. Other users need a Commercial license
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]
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.
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 | -- |
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 | -- |
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 |
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 | -- |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||
SP5: | - |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hemochromatosis, type 4 |
|
|
hemochromatosis, type 1 |
|
|
siderosis |
|
|
hemochromatosis, type 2a |
|
|
iron metabolism disease |
|