Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6556
Gene name	Solute carrier family 11 member 1
Gene symbol	SLC11A1
Synonyms (NCBI Gene)	LSHNRAMPNRAMP1
Chromosome	2
Chromosome location	2q35
Summary	This gene is a member of the solute carrier family 11 (proton-coupled divalent metal ion transporters) family and encodes a multi-pass membrane protein. The protein functions as a divalent transition metal (iron and manganese) transporter involved in iron

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SNP ID	Visualize variation	Clinical significance	Consequence
rs17235409	G>A,C	Risk-factor	Coding sequence variant, missense variant, non coding transcript variant

139

Show/Hide all (139)

miRTarBase ID	miRNA	Experiments	Reference
MIRT621346	hsa-miR-6873-5p	HITS-CLIP	23824327
MIRT621345	hsa-miR-6760-5p	HITS-CLIP	23824327
MIRT621344	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT621343	hsa-miR-4419a	HITS-CLIP	23824327
MIRT621342	hsa-miR-4510	HITS-CLIP	23824327
MIRT621341	hsa-miR-6127	HITS-CLIP	23824327
MIRT621340	hsa-miR-6129	HITS-CLIP	23824327
MIRT621339	hsa-miR-6130	HITS-CLIP	23824327
MIRT621338	hsa-miR-6133	HITS-CLIP	23824327
MIRT621337	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT621336	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT621335	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT621334	hsa-miR-182-5p	HITS-CLIP	23824327
MIRT621333	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT491491	hsa-miR-1908-3p	PAR-CLIP	23592263
MIRT491490	hsa-miR-1199-3p	PAR-CLIP	23592263
MIRT491488	hsa-miR-6853-5p	PAR-CLIP	23592263
MIRT491489	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT491487	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT621346	hsa-miR-6873-5p	HITS-CLIP	23824327
MIRT621345	hsa-miR-6760-5p	HITS-CLIP	23824327
MIRT621344	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT621343	hsa-miR-4419a	HITS-CLIP	23824327
MIRT621342	hsa-miR-4510	HITS-CLIP	23824327
MIRT621341	hsa-miR-6127	HITS-CLIP	23824327
MIRT621340	hsa-miR-6129	HITS-CLIP	23824327
MIRT621339	hsa-miR-6130	HITS-CLIP	23824327
MIRT621338	hsa-miR-6133	HITS-CLIP	23824327
MIRT621337	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT621336	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT621335	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT621334	hsa-miR-182-5p	HITS-CLIP	23824327
MIRT621333	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT491491	hsa-miR-1908-3p	PAR-CLIP	23592263
MIRT491490	hsa-miR-1199-3p	PAR-CLIP	23592263
MIRT491488	hsa-miR-6853-5p	PAR-CLIP	23592263
MIRT491489	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT491487	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT1351730	hsa-miR-124	CLIP-seq
MIRT1351731	hsa-miR-1276	CLIP-seq
MIRT1351732	hsa-miR-182	CLIP-seq
MIRT1351733	hsa-miR-1912	CLIP-seq
MIRT1351734	hsa-miR-2467-3p	CLIP-seq
MIRT1351735	hsa-miR-3123	CLIP-seq
MIRT1351736	hsa-miR-3657	CLIP-seq
MIRT1351737	hsa-miR-3689d	CLIP-seq
MIRT1351738	hsa-miR-3691-3p	CLIP-seq
MIRT1351739	hsa-miR-3714	CLIP-seq
MIRT1351740	hsa-miR-3910	CLIP-seq
MIRT1351741	hsa-miR-4252	CLIP-seq
MIRT1351742	hsa-miR-4258	CLIP-seq
MIRT1351743	hsa-miR-4283	CLIP-seq
MIRT1351744	hsa-miR-4311	CLIP-seq
MIRT1351745	hsa-miR-4449	CLIP-seq
MIRT1351746	hsa-miR-4669	CLIP-seq
MIRT1351747	hsa-miR-4695-5p	CLIP-seq
MIRT1351748	hsa-miR-4767	CLIP-seq
MIRT1351749	hsa-miR-4793-3p	CLIP-seq
MIRT1351750	hsa-miR-506	CLIP-seq
MIRT1351751	hsa-miR-508-5p	CLIP-seq
MIRT1351752	hsa-miR-583	CLIP-seq
MIRT1351753	hsa-miR-766	CLIP-seq
MIRT2104244	hsa-miR-1197	CLIP-seq
MIRT2104245	hsa-miR-1224-5p	CLIP-seq
MIRT2104246	hsa-miR-1245b-3p	CLIP-seq
MIRT2104247	hsa-miR-136	CLIP-seq
MIRT1351733	hsa-miR-1912	CLIP-seq
MIRT1351734	hsa-miR-2467-3p	CLIP-seq
MIRT2104248	hsa-miR-3169	CLIP-seq
MIRT1351737	hsa-miR-3689d	CLIP-seq
MIRT2104249	hsa-miR-4515	CLIP-seq
MIRT2104250	hsa-miR-4726-3p	CLIP-seq
MIRT2104251	hsa-miR-4751	CLIP-seq
MIRT1351732	hsa-miR-182	CLIP-seq
MIRT2328466	hsa-miR-1908	CLIP-seq
MIRT2328467	hsa-miR-338-3p	CLIP-seq
MIRT1351741	hsa-miR-4252	CLIP-seq
MIRT2328468	hsa-miR-4435	CLIP-seq
MIRT2328469	hsa-miR-4786-5p	CLIP-seq
MIRT1351749	hsa-miR-4793-3p	CLIP-seq
MIRT1351751	hsa-miR-508-5p	CLIP-seq
MIRT2328470	hsa-miR-663	CLIP-seq
MIRT1351753	hsa-miR-766	CLIP-seq
MIRT2394599	hsa-miR-764	CLIP-seq
MIRT1351736	hsa-miR-3657	CLIP-seq
MIRT1351738	hsa-miR-3691-3p	CLIP-seq
MIRT1351742	hsa-miR-4258	CLIP-seq
MIRT1351745	hsa-miR-4449	CLIP-seq
MIRT1351746	hsa-miR-4669	CLIP-seq
MIRT1351734	hsa-miR-2467-3p	CLIP-seq
MIRT2104248	hsa-miR-3169	CLIP-seq
MIRT2459452	hsa-miR-3647-3p	CLIP-seq
MIRT2104249	hsa-miR-4515	CLIP-seq
MIRT2459453	hsa-miR-4731-3p	CLIP-seq
MIRT2459454	hsa-miR-4801	CLIP-seq
MIRT2459455	hsa-miR-593	CLIP-seq
MIRT1351734	hsa-miR-2467-3p	CLIP-seq
MIRT2104248	hsa-miR-3169	CLIP-seq
MIRT2104249	hsa-miR-4515	CLIP-seq
MIRT1351732	hsa-miR-182	CLIP-seq
MIRT2623091	hsa-miR-3121-3p	CLIP-seq
MIRT2623092	hsa-miR-3122	CLIP-seq
MIRT2328467	hsa-miR-338-3p	CLIP-seq
MIRT2459452	hsa-miR-3647-3p	CLIP-seq
MIRT2623093	hsa-miR-3671	CLIP-seq
MIRT2623094	hsa-miR-3689a-3p	CLIP-seq
MIRT2623095	hsa-miR-3689c	CLIP-seq
MIRT2623096	hsa-miR-371-5p	CLIP-seq
MIRT2623097	hsa-miR-371b-5p	CLIP-seq
MIRT2623098	hsa-miR-3913-5p	CLIP-seq
MIRT1351741	hsa-miR-4252	CLIP-seq
MIRT2623099	hsa-miR-4421	CLIP-seq
MIRT2328468	hsa-miR-4435	CLIP-seq
MIRT2623100	hsa-miR-4470	CLIP-seq
MIRT2459453	hsa-miR-4731-3p	CLIP-seq
MIRT2328469	hsa-miR-4786-5p	CLIP-seq
MIRT1351749	hsa-miR-4793-3p	CLIP-seq
MIRT2459454	hsa-miR-4801	CLIP-seq
MIRT1351751	hsa-miR-508-5p	CLIP-seq
MIRT2459455	hsa-miR-593	CLIP-seq
MIRT2623101	hsa-miR-670	CLIP-seq
MIRT1351753	hsa-miR-766	CLIP-seq
MIRT2623092	hsa-miR-3122	CLIP-seq
MIRT2328467	hsa-miR-338-3p	CLIP-seq
MIRT2459452	hsa-miR-3647-3p	CLIP-seq
MIRT2623093	hsa-miR-3671	CLIP-seq
MIRT2623094	hsa-miR-3689a-3p	CLIP-seq
MIRT2623095	hsa-miR-3689c	CLIP-seq
MIRT2623096	hsa-miR-371-5p	CLIP-seq
MIRT2623097	hsa-miR-371b-5p	CLIP-seq
MIRT2623098	hsa-miR-3913-5p	CLIP-seq
MIRT2623099	hsa-miR-4421	CLIP-seq
MIRT2328468	hsa-miR-4435	CLIP-seq
MIRT2623100	hsa-miR-4470	CLIP-seq
MIRT2459453	hsa-miR-4731-3p	CLIP-seq
MIRT2328469	hsa-miR-4786-5p	CLIP-seq
MIRT2459454	hsa-miR-4801	CLIP-seq
MIRT2459455	hsa-miR-593	CLIP-seq
MIRT2623101	hsa-miR-670	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001818	Process	Negative regulation of cytokine production	IEA
GO:0001818	Process	Negative regulation of cytokine production	ISS
GO:0001819	Process	Positive regulation of cytokine production	IEA
GO:0001819	Process	Positive regulation of cytokine production	ISS
GO:0002309	Process	T cell proliferation involved in immune response	IEA
GO:0002309	Process	T cell proliferation involved in immune response	ISS
GO:0002606	Process	Positive regulation of dendritic cell antigen processing and presentation	IEA
GO:0002606	Process	Positive regulation of dendritic cell antigen processing and presentation	ISS
GO:0002827	Process	Positive regulation of T-helper 1 type immune response	IEA
GO:0002827	Process	Positive regulation of T-helper 1 type immune response	ISS
GO:0005381	Function	Iron ion transmembrane transporter activity	IBA
GO:0005381	Function	Iron ion transmembrane transporter activity	IDA	9730978
GO:0005381	Function	Iron ion transmembrane transporter activity	IEA
GO:0005384	Function	Manganese ion transmembrane transporter activity	IBA
GO:0005384	Function	Manganese ion transmembrane transporter activity	IDA	9730978
GO:0005384	Function	Manganese ion transmembrane transporter activity	IEA
GO:0005384	Function	Manganese ion transmembrane transporter activity	ISS
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	ISS
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	ISS
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IEA
GO:0005770	Component	Late endosome	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IMP	17932044
GO:0005886	Component	Plasma membrane	NAS	8537108
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006826	Process	Iron ion transport	IDA	9730978
GO:0006826	Process	Iron ion transport	IEA
GO:0006826	Process	Iron ion transport	IMP	16510578
GO:0006828	Process	Manganese ion transport	IBA
GO:0006828	Process	Manganese ion transport	IDA	9730978
GO:0006828	Process	Manganese ion transport	IEA
GO:0006828	Process	Manganese ion transport	ISS
GO:0006879	Process	Intracellular iron ion homeostasis	IBA
GO:0006879	Process	Intracellular iron ion homeostasis	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IMP	16510578
GO:0006909	Process	Phagocytosis	IEA
GO:0006909	Process	Phagocytosis	ISS
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	ISS
GO:0007035	Process	Vacuolar acidification	IEA
GO:0007035	Process	Vacuolar acidification	ISS
GO:0009617	Process	Response to bacterium	IDA	7717395
GO:0009617	Process	Response to bacterium	IEA
GO:0010008	Component	Endosome membrane	IBA
GO:0010008	Component	Endosome membrane	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0015707	Process	Nitrite transport	IEA
GO:0015707	Process	Nitrite transport	ISS
GO:0016020	Component	Membrane	IEA
GO:0019730	Process	Antimicrobial humoral response	TAS
GO:0030001	Process	Metal ion transport	IEA
GO:0030001	Process	Metal ion transport	ISS	17932044
GO:0030026	Process	Intracellular manganese ion homeostasis	IBA
GO:0030670	Component	Phagocytic vesicle membrane	IBA
GO:0030670	Component	Phagocytic vesicle membrane	IDA	12070036
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:0031902	Component	Late endosome membrane	ISS
GO:0031902	Component	Late endosome membrane	TAS
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032496	Process	Response to lipopolysaccharide	ISS
GO:0032729	Process	Positive regulation of type II interferon production	IEA
GO:0032729	Process	Positive regulation of type II interferon production	ISS
GO:0032729	Process	Positive regulation of type II interferon production	ISS
GO:0034341	Process	Response to type II interferon	IEA
GO:0034341	Process	Response to type II interferon	ISS
GO:0034755	Process	Iron ion transmembrane transport	IBA
GO:0042060	Process	Wound healing	IEA
GO:0042060	Process	Wound healing	ISS
GO:0042116	Process	Macrophage activation	IEA
GO:0042116	Process	Macrophage activation	ISS
GO:0042742	Process	Defense response to bacterium	IEA
GO:0042742	Process	Defense response to bacterium	ISS
GO:0042803	Function	Protein homodimerization activity	IDA	8537108
GO:0042832	Process	Defense response to protozoan	IEA
GO:0042832	Process	Defense response to protozoan	ISS
GO:0045342	Process	MHC class II biosynthetic process	IEA
GO:0045342	Process	MHC class II biosynthetic process	ISS
GO:0045454	Process	Cell redox homeostasis	TAS
GO:0045730	Process	Respiratory burst	IEA
GO:0045730	Process	Respiratory burst	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046873	Function	Metal ion transmembrane transporter activity	IEA
GO:0046915	Function	Transition metal ion transmembrane transporter activity	IGI	17932044
GO:0048002	Process	Antigen processing and presentation of peptide antigen	IEA
GO:0048002	Process	Antigen processing and presentation of peptide antigen	ISS
GO:0048255	Process	MRNA stabilization	IEA
GO:0048255	Process	MRNA stabilization	ISS
GO:0050766	Process	Positive regulation of phagocytosis	IEA
GO:0050766	Process	Positive regulation of phagocytosis	ISS
GO:0050829	Process	Defense response to Gram-negative bacterium	IEA
GO:0050829	Process	Defense response to Gram-negative bacterium	ISS
GO:0051139	Function	Metal cation:proton antiporter activity	IBA
GO:0051139	Function	Metal cation:proton antiporter activity	IDA	9730978
GO:0051139	Function	Metal cation:proton antiporter activity	IEA
GO:0051139	Function	Metal cation:proton antiporter activity	IGI	17932044
GO:0051139	Function	Metal cation:proton antiporter activity	TAS
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	ISS
GO:0070574	Process	Cadmium ion transmembrane transport	IGI	17932044
GO:0070821	Component	Tertiary granule membrane	IDA	12070036
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0071421	Process	Manganese ion transmembrane transport	IEA
GO:0098849	Process	Cellular detoxification of cadmium ion	IGI	17932044
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1903826	Process	L-arginine transmembrane transport	IEA

MIM	HGNC	e!Ensembl
600266	10907	ENSG00000018280

P49279

Protein name

Natural resistance-associated macrophage protein 1 (NRAMP 1) (Solute carrier family 11 member 1)

Protein function

Macrophage-specific antiporter that fluxes metal ions in either direction against a proton gradient. Localized to late endosomal lysosomal membranes, delivers bivalent cations from the cytosol into these acidic compartments where they may direct

PDB

9F6P , 9F6Q

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01566	Nramp	78 → 463	Natural resistance-associated macrophage protein	Family

Tissue specificity

TISSUE SPECIFICITY: Macrophages; peripheral blood leukocytes, lung, spleen and liver. {ECO:0000269|PubMed:7964458, ECO:0000269|PubMed:8537108}.

Sequence

MTGDKGPQRLSGSSYGSISSPTSPTSPGPQQAPPRETYLSEKIPIPDTKPGTFSLRKLWA
FTGPGFLMSIAFLDPGNIESDLQAGAVAGFKLLWVLLWATVLGLLCQRLAARLGVVTGKD
LGEVCHLYYPKVPRTVLWLTIELAIVGSDMQEVIGTAIAFNLLSAGRIPLWGGVLITIVD
TFFFLFLDNYGLRKLEAFFGLLITIMALTFGYEYVVARPEQGALLRGLFLPSCPGCGHPE
LLQAVGIVGAIIMPHNIYLHSALVKSREIDRARRADIREANMYFLIEATIALSVSFIINL
FVMAVFGQAFYQKTNQAAFNICANSSLHDYAKIFPMNNATVAVDIYQGGVILGCLFGPAA
LYIWAIGLLAAGQSSTMTGTYAGQFVMEGFLRLRWSRFARVLLTRSCAILPTVLVAVFRD
LRDLSGLNDLLNVLQSLLLPFAVLPILTFTSMPTLMQEFANGLLNKVVTSSIMVLVCAIN
LYFVVSYLPSLPHPAYFGLAALLAAAYLGLSTYLVWTCCLAHGATFLAHSSHHHFLYGLL
EEDQKGETSG

Sequence length

550

Interactions

View interactions

	KEGG		Reactome
	Lysosome		ROS and RNS production in phagocytes Metal ion SLC transporters Neutrophil degranulation Ion influx/efflux at host-pathogen interface

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Buruli ulcer, susceptibility to	Uncertain significance	rs17235409	RCV000009814
Colon adenocarcinoma	Uncertain significance	rs141050730	RCV005931036
Cystic fibrosis	Uncertain significance	rs17235409	RCV005357103
Gastric cancer	Benign	rs77624405	RCV005936881
Hepatocellular carcinoma	Benign	rs77624405, rs142636978	RCV005936880 RCV005907714
Mycobacterium tuberculosis, susceptibility to	Uncertain significance	rs754247821	RCV000791139
Mycobacterium tuberculosis, susceptibility to infection by	risk factor	rs2276631	RCV000009813
SLC11A1-related disorder	Benign; Likely benign	rs77624405, rs145536242, rs767192438, rs17221959, rs191066713, rs374719609, rs560129385, rs7576974, rs142636978	RCV003897400 RCV003911566 RCV003911863 RCV003981221 RCV003951595 RCV003926990 RCV003926991 RCV003976423 RCV003910844

Show/Hide Text Mining Associations (46)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Disease	Associate	36755239
Anemia Iron Deficiency	Associate	37607533
Aortic Dissection	Associate	36755239
Arthritis Juvenile	Associate	10857800, 15641099
Arthritis Rheumatoid	Associate	10719815, 28239176, 31316048, 8863160
Autoimmune Diseases	Associate	10227396, 10719815, 15641099, 16135804, 23492997
Brain Injuries	Associate	31273671
Buruli Ulcer	Associate	27097163
Chronic Periodontitis	Associate	27309481
Communicable Diseases	Associate	10227396, 10857800, 14960532, 15757519, 16135804, 21599885, 27830154, 37062790
Crohn Disease	Associate	17131479, 21128323
Diabetes Mellitus Type 1	Associate	19768110
Diabetes Mellitus Type 2	Associate	37062790
Diabetic Neuropathies	Associate	37033211
Erythema	Associate	29214786
Fibrosis	Associate	14960532
Glioma	Associate	36531992
Granulomatous Disease Chronic	Associate	14688376
Hepatitis C Chronic	Associate	14960532
HIV Infections	Associate	19474129
IgA Vasculitis	Associate	12117685
Immune Reconstitution Inflammatory Syndrome	Associate	23594560
Infections	Associate	10719815, 17131479, 21169917, 27309481
Inflammation	Associate	12117685, 36755239
Leishmaniasis Cutaneous	Associate	27830154
Leprosy	Associate	21599885, 26814595
Leprosy Lepromatous	Associate	26515838
Leprosy Tuberculoid	Associate	26515838
Lung Diseases	Associate	17459898
Mucocutaneous Lymph Node Syndrome	Associate	29214786
Multiple Sclerosis	Associate	23492997
Mycobacterium avium intracellulare Infection	Associate	17459898, 21169917
Mycobacterium Infections Nontuberculous	Associate	22609013
Neurocognitive Disorders	Associate	31273671
Paratuberculosis	Associate	19768110, 23492997
Peri Implantitis	Associate	27309481
Periodontitis	Associate	27309481
Persistent Infection	Associate	19768110
Prostatic Neoplasms	Associate	37108754
Respiratory Distress Syndrome	Associate	32282748
Smoke Inhalation Injury	Associate	31316048
Tuberculosis	Associate	15381817, 17371589, 17493019, 19116662, 21599885, 22609013, 23360117, 23594560, 26261060, 28583097, 37607533, 9486992
Tuberculosis Extrapulmonary	Associate	22609013
Tuberculosis Meningeal	Associate	26261060
Tuberculosis Pulmonary	Associate	15825023, 17493019, 21169917, 22609013, 26261060, 28583097, 9486992
Tuberculosis Spinal	Associate	34990850

SLC11A1 (solute carrier family 11 member 1)