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 metabolism and host resistance to certain pathogens. Mutations in this gene have been associated with susceptibility to infectious diseases such as tuberculosis and leprosy, and inflammatory diseases such as rheumatoid arthritis and Crohn disease. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]
该基??因为溶质载体家族11(质子偶联的二价金属离子转运)家族的成员,编码多遍膜蛋白。该蛋白质作为二价过渡金属(铁和锰)转运参与铁代谢和宿主抗某些病原体。在这种基因突变与易感性传染病如结核病和麻风病,和炎性疾病,如类风湿关节炎和克罗恩病有关。编码不同蛋白同种型的可变剪接变体已被描述,但只有一个的全长性质已确定。 [由RefSeq的,2008年7月提供]
SLC11A1基因(以及对应的蛋白质)的细胞分布位置:
SLC11A1基因的本体(GO)信息:
名称 |
---|
4142 Lysosome [PATH:hsa04142] |
4978 Mineral absorption [PATH:hsa04978] |
名称 |
---|
Disease |
Infectious disease |
Latent infection of Homo sapiens with Mycobacterium tuberculosis |
Metal ion SLC transporters |
Phagosomal maturation (early endosomal stage) |
SLC-mediated transmembrane transport |
Transmembrane transport of small molecules |
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Tuberculosis | 0.336899795 | 72 | 1 | BeFree_CTD_human_GAD_LHGDN_ORPHANET |
Crohn Disease | 0.144460901 | 11 | 0 | BeFree_CTD_human_GAD_LHGDN |
Rheumatoid Arthritis | 0.143265513 | 15 | 0 | BeFree_CTD_human_GAD_LHGDN |
Leprosy | 0.136721114 | 20 | 1 | BeFree_CTD_human_GAD |
Sarcoidosis | 0.133635564 | 6 | 0 | BeFree_CTD_human_GAD_LHGDN |
Diabetes Mellitus, Insulin-Dependent | 0.133192369 | 7 | 0 | BeFree_CTD_human_GAD |
Multiple Sclerosis | 0.130911214 | 6 | 0 | BeFree_CTD_human_GAD_LHGDN |
Inflammatory Bowel Diseases | 0.128815624 | 6 | 0 | BeFree_CTD_human_GAD_LHGDN |
Ulcerative Colitis | 0.127915422 | 5 | 0 | BeFree_CTD_human_GAD |
Leishmaniasis, Visceral | 0.127262917 | 9 | 2 | BeFree_CTD_human_GAD_LHGDN |
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