General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
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Gene ID | 7318 |
Name | UBA7 |
Synonym | D8|UBA1B|UBE1L|UBE2;ubiquitin-like modifier activating enzyme 7;UBA7;ubiquitin-like modifier activating enzyme 7 |
Definition | UBA1, ubiquitin-activating enzyme E1 homolog B|UBA7, ubiquitin-activating enzyme E1|ubiquitin-activating enzyme 7|ubiquitin-activating enzyme E1 homolog|ubiquitin-activating enzyme E1-related protein|ubiquitin-activating enzyme-2|ubiquitin-like modifier-a |
Position | 3p21 |
Gene Type | protein-coding |
PAH Type |
Description |
PAH | "We observed linkage evidence in four regions: 3q22 ([median log of the odds (LOD) = 3.43]), 3p12 (median LOD) = 2.35), 2p22 (median LOD = 2.21), and 13q21 (median LOD = 2.09). When used in conjunction with the non-parametric bootstrap, our approach yields high-resolution to identify candidate gene regions containing putative BMPR2-interacting genes. Imputation of the disease model by LOD-score maximization indicates that the 3q22 locus alone predicts most FPAH cases in BMPR2 mutation carriers, providing strong evidence that BMPR2 and the 3q22 locus interact epistatically." |
More detail of all Human literatures about UBA7 | |
Pathways and Diseases |
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Pathway | Ubiquitin proteasome pathway;PANTHER;P00060 |
Pathway | Ubiquitin mediated proteolysis;KEGG PATHWAY;hsa04120 |
Pathway | Parkinson's disease;KEGG PATHWAY;hsa05012 |
Disease | Leukoencephalopathy;FunDO |
Disease | Rheumatoid arthritis;FunDO |
External Links |
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Links to Entrez Gene | 7318 |
Links to all GeneRIF Items | 7318 |
Links to iHOP | 7318 |
Sequence Information |
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Nucleotide Sequence |
>7318 : length: 3039 atggatgccctggacgcttcgaagctactggatgaggagctgtattcaagacagctgtat gtgctgggctcacctgccatgcagaggattcagggagccagggtcctggtgtcaggcctg cagggcctgggggccgaggtggccaagaacttggttctgatgggtgtgggcagcctcact ctgcatgatccccaccccacctgctggtccgacctggctgcccagtttctcctctcagag caggacttggaaaggagcagagccgaggcctctcaagagctcttggctcagctcaacaga gctgtccaggtcgtcgtgcacacgggtgacatcactgaggacctgctgttggacttccag gtggtggtgctgactgctgcaaagctggaggagcagctgaaggtgggcaccttgtgtcat aagcatggagtttgctttctggcggctgacacccggggcctcgtggggcagttgttctgt gactttggtgaggacttcactgtgcaggaccccacagaggcagaacccctgacagctgcc atccagcacatctcccagggctcccctggcattctcactctgaggaaaggggccaatacc cactacttccgtgatggagacttggtgactttctcgggaattgagggaatggttgagctc aacgactgtgatccccggtctatccacgtgcgggaggatgggtccctggagattggagac acaacaactttctctcggtacttgcgtggtggggctatcactgaagtcaagagacccaag actgtgagacataagtccctggacacagccctgctccagccccatgtggtggcccagagc tcccaggaagttcaccatgcccactgcctgcatcaggccttctgtgcactgcacaagttc cagcacctccatggccggccaccccagccctgggatcctgttgatgcagagactgtggtg ggcctggcccgggacctggaaccactgaagcggacagaggaagagccactggaagagcca ctggatgaggccctagtgcggacagtcgccctaagcagtgcaggtgtcttgagccctatg gtggccatgctgggtgcagtagctgcccaggaagtgctgaaggcaatctccaggaagttc atgcctctggaccagtggctttactttgatgccctcgattgtcttccggaagatggggag ctccttcccagtcctgaggactgtgccctgagaggcagccgctatgatgggcaaattgca gtgtttggggctggttttcaggagaaactgagacgccagcactacctcctggtgggcgct ggtgccattggttgtgagctgctcaaagtctttgccctagtgggactgggggccgggaac agcgggggcttgactgttgttgacatggaccacatagagcgctccaatctcagccgtcag ttcctcttcaggtcccaggacgttggtagacccaaggcagaggtggctgcagcagctgcc cggggcctgaacccagacttacaggtgatcccgctcacctacccactggatcccaccaca gagcacatctatggggataactttttctcccgtgtggatggtgtggctgctgccctggac agtttccaggcccggcgctatgtggctgctcgttgcacccactatctgaagccactgctg gaggcaggcacatcgggcacctggggcagtgctacagtattcatgccacatgtgactgag gcctacagagcccctgcctcagctgcagcttctgaggatgccccctaccctgtctgtacc gtgcggtacttccctagcacagccgagcacaccctgcagtgggcccggcatgagtttgaa gaactcttccgactgtctgcagagaccatcaaccaccaccaacaggcacacacttccctg gcagacatggatgagccacagacactcaccttactgaagccagtgcttggggtcctgaga gtgcgtccacagaactggcaagactgtgtggcgtgggctcttggccactggaaactctgc tttcattatggcatcaaacagctgctgaggcacttcccacctaataaagtgcttgaggat ggaactcccttctggtcaggtcccaaacagtgtccccagcccttggagtttgacaccaac caagacacacacctcctctacgtactggcagctgccaacctgtatgcccagatgcatggg ctgcctggctcacaggactggactgcactcagggagctgctgaagctgctgccacagcct gacccccaacagatggcccccatctttgctagtaatctagagctggcttcggcttctgct gagtttggccctgagcagcagaaggaactgaacaaagccctggaagtctggagtgtgggc cctcccctgaagcctctgatgtttgagaaggatgatgacagcaacttccatgtggacttt gtggtagcggcagctagcctgagatgtcagaactacgggattccaccggtcaaccgtgcc cagagcaagcgaattgtgggccagattatcccagccattgccaccactacagcagctgtg gcaggcctgttgggcctggagctgtataaggtggtgagtgggccacggcctcgtagtgcc tttcgccacagctacctacatctggctgaaaactacctcatccgctatatgccttttgcc ccagccatccagacgttccatcacctgaagtggacctcttgggaccgtctgaaggtacca gctgggcagcctgagaggaccctggagtcgctgctggctcatcttcaggagcagcacggg ttgagggtgaggatcctgctgcacggctcagccctgctctatgcggccggatggtcacct gaaaagcaggcccagcacctgcccctcagggtgacagaactggttcagcagctgacaggc caggcacctgctcctgggcagcgggtgttggtgctagagctgagctgtgagggtgacgac gaggacactgccttcccacctctgcactatgagctgtga |
Protein Sequence |
>7318 : length: 1012 MDALDASKLLDEELYSRQLYVLGSPAMQRIQGARVLVSGLQGLGAEVAKNLVLMGVGSLT LHDPHPTCWSDLAAQFLLSEQDLERSRAEASQELLAQLNRAVQVVVHTGDITEDLLLDFQ VVVLTAAKLEEQLKVGTLCHKHGVCFLAADTRGLVGQLFCDFGEDFTVQDPTEAEPLTAA IQHISQGSPGILTLRKGANTHYFRDGDLVTFSGIEGMVELNDCDPRSIHVREDGSLEIGD TTTFSRYLRGGAITEVKRPKTVRHKSLDTALLQPHVVAQSSQEVHHAHCLHQAFCALHKF QHLHGRPPQPWDPVDAETVVGLARDLEPLKRTEEEPLEEPLDEALVRTVALSSAGVLSPM VAMLGAVAAQEVLKAISRKFMPLDQWLYFDALDCLPEDGELLPSPEDCALRGSRYDGQIA VFGAGFQEKLRRQHYLLVGAGAIGCELLKVFALVGLGAGNSGGLTVVDMDHIERSNLSRQ FLFRSQDVGRPKAEVAAAAARGLNPDLQVIPLTYPLDPTTEHIYGDNFFSRVDGVAAALD SFQARRYVAARCTHYLKPLLEAGTSGTWGSATVFMPHVTEAYRAPASAAASEDAPYPVCT VRYFPSTAEHTLQWARHEFEELFRLSAETINHHQQAHTSLADMDEPQTLTLLKPVLGVLR VRPQNWQDCVAWALGHWKLCFHYGIKQLLRHFPPNKVLEDGTPFWSGPKQCPQPLEFDTN QDTHLLYVLAAANLYAQMHGLPGSQDWTALRELLKLLPQPDPQQMAPIFASNLELASASA EFGPEQQKELNKALEVWSVGPPLKPLMFEKDDDSNFHVDFVVAAASLRCQNYGIPPVNRA QSKRIVGQIIPAIATTTAAVAGLLGLELYKVVSGPRPRSAFRHSYLHLAENYLIRYMPFA PAIQTFHHLKWTSWDRLKVPAGQPERTLESLLAHLQEQHGLRVRILLHGSALLYAAGWSP EKQAQHLPLRVTELVQQLTGQAPAPGQRVLVLELSCEGDDEDTAFPPLHYEL |