Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6556
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 11 member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC11A1
Synonyms (NCBI Gene) Gene synonyms aliases
LSH, NRAMP, NRAMP1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q35
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs17235409 G>A,C Risk-factor Coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001818 Process Negative regulation of cytokine production ISS
GO:0001819 Process Positive regulation of cytokine production ISS
GO:0002309 Process T cell proliferation involved in immune response ISS
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 ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600266 10907 ENSG00000018280
Protein
UniProt ID 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
Sequence length 550
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Lysosome   ROS and RNS production in phagocytes
Metal ion SLC transporters
Neutrophil degranulation
Ion influx/efflux at host-pathogen interface
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthritis Juvenile arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 16597321
Dermatitis Dermatitis, Atopic rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 16597321
Diabetes mellitus Diabetes Mellitus, Insulin-Dependent, Diabetes Mellitus, Ketosis-Prone, Diabetes Mellitus, Sudden-Onset rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
16597321
Inflammatory bowel disease Inflammatory Bowel Diseases rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468 16597321
Unknown
Disease term Disease name Evidence References Source
Crohn disease Crohn Disease, Regional enteritis 16059695 ClinVar
Leprosy Leprosy 16597321 ClinVar
Sarcoidosis Sarcoidosis 16597321 ClinVar
Cystic Fibrosis cystic fibrosis GenCC
Associations from Text Mining
Disease Name Relationship Type References
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