| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 57626 |
Name | KLHL1 |
Synonym | MRP2;kelch-like family member 1;KLHL1;kelch-like family member 1 |
Definition | Mayven-related protein 2|kelch-like protein 1 |
Position | 13q21 |
Gene Type | protein-coding |
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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 KLHL1 | |
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External Links |
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Links to Entrez Gene | 57626 |
Links to all GeneRIF Items | 57626 |
Links to iHOP | 57626 |
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Sequence Information |
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Nucleotide Sequence |
>57626 : length: 2247 atgtcaggctctgggcgaaaagacttcgatgtgaagcacattctgcgactccgctggaaa ctcttcagccacccgtctccttccaccggcggcccggcggggggaggctgcctgcaacag gacggcagtggcagctttgagcactggggacccagccagagtcgcctgctcaaaagccaa gagagaagcggtgtgagcactttctggaagaagccttcctcctcttcctcttcatcgtcc tccccgtcctcttcctcctcttccttcaatccgctgaatggcaccctgcttccagttgcc acgaggctgcagcaaggggctcctgggcagggcactcagcagccagccaggactctcttc tacgtggagtcactagaggaggaggtggtgccaggcatggactttcctggaccacacgaa aaagggctggttctgcaagagctcaaagtggagccagacaactctagccaggcaacaggt gaaggatgtggacacaggctgtcatcaaccggccattcaatgacacctcaaagtgatttg gactccagtagctctgaagaattctatcaagctgttcatcatgctgagcaaaccttcaga aagatggaaagttatttgaagcagcagcaactttgtgatgttatcctgattgttgggaac cgaaagatacctgcacataggcttgttctgagttcagtctccgactattttgcggccatg tttacaagtgatgtttgtgaagccaagcaagaggagatcaaaatggaaggcatagacccc aatgctctctgggaccttgtccaatttgcatatacaggctgcttggaattaaaagaggac accattgagaaccttcttgctgcagcgtgccttcttcagcttccacaggtggtggaagtg tgctgccacttcctcatgaagcttttgcatccatctaactgtttaggaattcgagccttc gcagatgctcaaggatgcattgagttaatgaaggtggcccacagctacacaatggaaaac ataatggaagttatcagaaatcaagagtttttactccttccagctgaggagctccataaa ctactggccagtgatgatgtcaatgttcctgatgaagaaaccatcttccatgcattgatg atgtgggtcaagtatgacatgcagagtagatgcaatgacctgagcatgcttcttgccttt ataagactgccactgcttccaccacagatattggctgacctagaaaatcatgcattattt aagaatgatctggaatgtcaaaagctgattctagaagcaatgaaataccatctattgcca gaaagaagaactttaatgcaaagtccgagaactaaacccagaaaatctacagtcggaact ttgtatgctgtaggaggaatggataacaacaaaggagctacaactatagagaaatatgat ctgagaacaaatctgtggatccaggcagggatgatgaatggcagaaggctgcagtttggt gtggctgttattgatgacaaactctttgtaattggaggtcgagatggcttaaagacattg aacactgttgaatgttacaatcccaaaaccaagacatggactgtcttaccaccaatgtca acacacagacatggtctaggtgtaacagtacttgaaggccctatttatgctgtgggaggc catgatggctggagctatctgaatacagtggaaaggtgggatccacagagtcaacaatgg acatttgtagccagtatgtcaattgctcggagcacagttggtgtagcagcattgaatggc aagttgtattcagttggaggtcgtgatggaagttcctgtttgagttcaatggaatattat gatcctcatacaaataagtggaacatgtgtgctcccatgtgtaagaggagagggggtgtc ggagtggccacatgtgacggttttctttatgcagtaggaggtcatgatgctcctgcttca aatcactgttcccggctactggattatgtagaaagatatgatcccaaaacagacacttgg accatggtggctcctttgagtatgcccagagatgctgttggggtctgtctccttggtgac agattatatgctgttggtggctatgatggacagacatacctcaacactatggaatcctat gacccacaaactaatgagtggacacagatggcttccttgaatattgggagagcaggtgcc tgtgtggtagtcatcaagcaaccttga |
Protein Sequence |
>57626 : length: 748 MSGSGRKDFDVKHILRLRWKLFSHPSPSTGGPAGGGCLQQDGSGSFEHWGPSQSRLLKSQ ERSGVSTFWKKPSSSSSSSSSPSSSSSSFNPLNGTLLPVATRLQQGAPGQGTQQPARTLF YVESLEEEVVPGMDFPGPHEKGLVLQELKVEPDNSSQATGEGCGHRLSSTGHSMTPQSDL DSSSSEEFYQAVHHAEQTFRKMESYLKQQQLCDVILIVGNRKIPAHRLVLSSVSDYFAAM FTSDVCEAKQEEIKMEGIDPNALWDLVQFAYTGCLELKEDTIENLLAAACLLQLPQVVEV CCHFLMKLLHPSNCLGIRAFADAQGCIELMKVAHSYTMENIMEVIRNQEFLLLPAEELHK LLASDDVNVPDEETIFHALMMWVKYDMQSRCNDLSMLLAFIRLPLLPPQILADLENHALF KNDLECQKLILEAMKYHLLPERRTLMQSPRTKPRKSTVGTLYAVGGMDNNKGATTIEKYD LRTNLWIQAGMMNGRRLQFGVAVIDDKLFVIGGRDGLKTLNTVECYNPKTKTWTVLPPMS THRHGLGVTVLEGPIYAVGGHDGWSYLNTVERWDPQSQQWTFVASMSIARSTVGVAALNG KLYSVGGRDGSSCLSSMEYYDPHTNKWNMCAPMCKRRGGVGVATCDGFLYAVGGHDAPAS NHCSRLLDYVERYDPKTDTWTMVAPLSMPRDAVGVCLLGDRLYAVGGYDGQTYLNTMESY DPQTNEWTQMASLNIGRAGACVVVIKQP |