| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2516 |
Name | NR5A1 |
Synonym | AD4BP|ELP|FTZ1|FTZF1|POF7|SF-1|SF1|SPGF8|SRXY3;nuclear receptor subfamily 5, group A, member 1;NR5A1;nuclear receptor subfamily 5, group A, member 1 |
Definition | STF-1|adrenal 4 binding protein|adrenal 4-binding protein|fushi tarazu factor homolog 1|nuclear receptor AdBP4|steroid hormone receptor Ad4BP|steroidogenic factor 1|steroidogenic factor 1 nuclear receptor|steroidogenic factor-1 |
Position | 9q33 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | Gene Expression;Reactome;REACT:71 |
Disease | cryptorchidism;GAD |
Disease | micropenis;GAD |
Disease | Premature ovarian failure 7;OMIM |
Disease | 46XY gonadal dysgenesis, complete or partial, with or without adrenal failure;OMIM |
Disease | Adrenocortical insufficiency;OMIM |
Disease | METABOLIC;GAD |
Disease | DEVELOPMENTAL;GAD |
Disease | diabetes, type 2 insulin;GAD |
External Links | |
Links to Entrez Gene | 2516 |
Links to all GeneRIF Items | 2516 |
Links to iHOP | 2516 |
Sequence Information | |
Nucleotide Sequence | >2516 : length: 1386 atggactattcgtacgacgaggacctggacgagctgtgccccgtgtgcggggacaaggtg tccggctaccactacggactgctcacgtgtgagagctgcaagggcttcttcaagcgcacg gtgcagaacaacaagcactacacgtgcaccgagagccagagctgcaagatcgacaagacg cagcgcaagcgctgtcccttctgccgcttccagaaatgcctgacggtggggatgcgcctg gaagccgtgcgcgctgaccgtatgaggggtggccggaacaagtttgggccgatgtacaag cgggaccgggccctgaaacagcagaagaaggcacagattcgggccaatggcttcaagctg gagacagggcccccgatgggggtgcccccgccgccccctcccgcaccggactacgtgctg cctcccagcctgcatgggcctgagcccaagggcctggccgccggtccacctgctgggcca ctgggcgactttggggccccagcactgcccatggccgtgcccggtgcccacgggccactg gctggctacctctaccctgcctttcctggccgtgccatcaagtctgagtacccggagcct tatgccagccccccacagcctgggctgccgtacggctacccagagcccttctctggaggg cccaacgtgcctgagctcatcctgcagctgctgcagctggagccggatgaggaccaggtg cgggcccgcatcttgggctgcctgcaggagcccaccaaaagccgccccgaccagccggcg gccttcggcctcctgtgcagaatggccgaccagaccttcatctccatcgtggactgggca cgcaggtgcatggtcttcaaggagctggaggtggccgaccagatgacgctgctgcagaac tgctggagcgagctgctggtgttcgaccacatctaccgccaggtccagcacggcaaggag ggcagcatcctgctggtcaccgggcaggaggtggagctgaccacagtggccacccaggcg ggctcgctgctgcacagcctggtgttgcgggcgcaggagctggtgctgcagctgcttgcg ctgcagctggaccggcaggagtttgtctgcctcaagttcatcatcctcttcagcctggat ttgaagttcctgaataaccacatcctggtgaaagacgctcaggagaaggccaacgccgcc ctgcttgactacaccctgtgccactacccgcactgcggggacaaattccagcagctgctg ctgtgcctggtggaggtgcgggccctgagcatgcaggccaaggagtacctgtaccacaag cacctgggcaacgagatgccccgcaacaacctgctcatcgaaatgctgcaagccaagcag acttga |
Protein Sequence | >2516 : length: 461 MDYSYDEDLDELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKHYTCTESQSCKIDKT QRKRCPFCRFQKCLTVGMRLEAVRADRMRGGRNKFGPMYKRDRALKQQKKAQIRANGFKL ETGPPMGVPPPPPPAPDYVLPPSLHGPEPKGLAAGPPAGPLGDFGAPALPMAVPGAHGPL AGYLYPAFPGRAIKSEYPEPYASPPQPGLPYGYPEPFSGGPNVPELILQLLQLEPDEDQV RARILGCLQEPTKSRPDQPAAFGLLCRMADQTFISIVDWARRCMVFKELEVADQMTLLQN CWSELLVFDHIYRQVQHGKEGSILLVTGQEVELTTVATQAGSLLHSLVLRAQELVLQLLA LQLDRQEFVCLKFIILFSLDLKFLNNHILVKDAQEKANAALLDYTLCHYPHCGDKFQQLL LCLVEVRALSMQAKEYLYHKHLGNEMPRNNLLIEMLQAKQT |