SLC40A1 solute carrier family 40 member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC40A1provided by HGNC
Official Full Name: solute carrier family 40 member 1provided by HGNC
Primary source: HGNC:HGNC:10909
See related: Ensembl:ENSG00000138449 MIM:604653; AllianceGenome:HGNC:10909
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FPN1; HFE4; MTP1; IREG1; MST079; MSTP079; SLC11A3
Summary: 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]
Expression: Broad expression in spleen (RPKM 192.7), ovary (RPKM 171.6) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q32.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (189560590..189580786, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (190049828..190070025, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (190425316..190445512, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Assessment of iron overload in a cohort of Sri Lankan patients with transfusion dependent beta thalassaemia and its correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes.
Title: Assessment of iron overload in a cohort of Sri Lankan patients with transfusion dependent beta thalassaemia and its correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes.
MicroRNA-4735-3p Facilitates Ferroptosis in Clear Cell Renal Cell Carcinoma by Targeting SLC40A1.
Title: MicroRNA-4735-3p Facilitates Ferroptosis in Clear Cell Renal Cell Carcinoma by Targeting SLC40A1.
Interplay of Ferritin Accumulation and Ferroportin Loss in Ageing Brain: Implication for Protein Aggregation in Down Syndrome Dementia, Alzheimer's, and Parkinson's Diseases.
Title: Interplay of Ferritin Accumulation and Ferroportin Loss in Ageing Brain: Implication for Protein Aggregation in Down Syndrome Dementia, Alzheimer's, and Parkinson's Diseases.
UBA6 and NDFIP1 regulate the degradation of ferroportin.
Title: UBA6 and NDFIP1 regulate the degradation of ferroportin.
Estimates of West African Ancestry in African Americans Using Alleles of Iron-Related Genes HJV, SLC40A1, and TFR2.
Title: Estimates of West African Ancestry in African Americans Using Alleles of Iron-Related Genes HJV, SLC40A1, and TFR2.
Ferroportin and FBXL5 as Prognostic Markers in Advanced Stage Clear Cell Renal Cell Carcinoma.
Title: Ferroportin and FBXL5 as Prognostic Markers in Advanced Stage Clear Cell Renal Cell Carcinoma.
Upregulation of miR-18a-5p promotes the proliferation of prostate cancer via inhibiting the expression of SLC40A1.
Title: Upregulation of miR-18a-5p promotes the proliferation of prostate cancer via inhibiting the expression of SLC40A1.
Knocking out alpha-synuclein in melanoma cells dysregulates cellular iron metabolism and suppresses tumor growth.
Title: Knocking out alpha-synuclein in melanoma cells dysregulates cellular iron metabolism and suppresses tumor growth.
Decreased ferroportin in hepatocytes promotes macrophages polarize towards an M2-like phenotype and liver fibrosis.
Title: Decreased ferroportin in hepatocytes promotes macrophages polarize towards an M2-like phenotype and liver fibrosis.
Gene interfered-ferroptosis therapy for cancers.
Title: Gene interfered-ferroptosis therapy for cancers.

Submit: New GeneRIF Correction See all GeneRIFs (149)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hemochromatosis type 4 MedGen: C1853733 OMIM: 606069 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of SLC40A1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G32943 (e-PCR)
- UniSTS:117521

D2S2575 (e-PCR)
- UniSTS:36426

A009X19 (e-PCR)
- UniSTS:29515

PMC209405P1 (e-PCR)
- UniSTS:271991

RH16273 (e-PCR)
- UniSTS:47995

RH36364 (e-PCR)
- UniSTS:38527

STS-AA011593 (e-PCR)
- UniSTS:148

A002Q39 (e-PCR)
- UniSTS:17564

SGC34910 (e-PCR)
- UniSTS:62118

WI-16551 (e-PCR)
- UniSTS:45818

Homology

Homologs of the SLC40A1 gene: The SLC40A1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 454 organisms have orthologs with human gene SLC40A1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ferrous iron transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables iron ion transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables iron ion transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables iron ion transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables peptide hormone binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables peptide hormone binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cellular iron ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endothelium development	IEA Inferred from Electronic Annotation more info
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in iron ion export across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in iron ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in iron ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in iron ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lymphocyte homeostasis	IEA Inferred from Electronic Annotation more info
involved_in multicellular organismal iron ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription from RNA polymerase II promoter in response to iron	IEA Inferred from Electronic Annotation more info
involved_in spleen trabecula formation	IEA Inferred from Electronic Annotation more info
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in basolateral plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in integral component of membrane	TAS Traceable Author Statement more info	PubMed
located_in integral component of plasma membrane	IC Inferred by Curator more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in synaptic vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: solute carrier family 40 member 1

Names: iron regulated gene 1; solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3; solute carrier family 40 (iron-regulated transporter), member 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.