| Gene Name | KLHL12 |
|
| Specie | Homo sapiens | |
| Full Name | kelch like family member 12 | |
| Also known as | C3IP1|DKIR | |
| Coordinate | chr1:202891116-202928628 | |
| Strand | - | |
| Gene summary | This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren's syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a substrate adaptor of the Cullin-3 ubiquitin ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this complex has been shown to regulate the Wnt signaling pathway as well as COPII vesicle coat size. A pseudogene has been identified on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] |
| Retroname | Coord | Strand | Genomic Region | ENSG | |
|---|---|---|---|---|---|
| KLHL12P1 | chr22:20449969-20453240 | + |
Intragenic |
ENSG00000215493 | UCSC |
| >NM_021633.4 |
| AGACCCGGACGGCTCCAGAGCCTCCAGAGCCTCCGGGTCTGGGCGGCGCTTCGGCTCCTCCCGAGCCGCCTGCTAGCCCCGCGCCGCACTCCATCCCCACAGGCTGGGGACGGGCCCGGTGCGGCTGTGTGGGTTCGGGAGCGGAGTTGCAGAATCCAAGGACCCATTTTGTTCTTTCTCCGCACTGCTTTATGGGAGGCATTATGGCCCCCAAAGACATAATGACAAATACTCATGCTAAATCCATCCTCAATTCAATGAACTCCCTCAGGAAGAGCAATACCCTCTGTGATGTGACATTGAGAGTAGAGCAGAAAGACTTCCCTGCCCATCGGATTGTGCTGGCTGCCTGTAGTGATTACTTCTGTGCCATGTTCACTAGTGAGCTCTCAGAGAAGGGGAAACCTTATGTTGACATCCAAGGTTTGACTGCCTCTACCATGGAAATTTTATTGGACTTTGTGTACACAGAAACAGTACATGTGACAGTGGAGAATGTACAAGAACTGCTTCCTGCAGCCTGTCTGCTTCAGTTGAAAGGTGTGAAACAAGCCTGCTGTGAGTTCTTAGAAAGTCAGTTGGACCCTTCTAATTGCCTGGGTATTAGGGATTTTGCTGAAACCCACAATTGTGTTGACCTGATGCAAGCAGCTGAGGTTTTTAGCCAGAAGCATTTTCCTGAAGTGGTACAGCATGAAGAGTTCATTCTTCTGAGTCAAGGAGAGGTGGAAAAGCTAATCAAGTGCGACGAAATTCAGGTGGATTCTGAAGAGCCAGTCTTTGAGGCTGTCATCAACTGGGTGAAGCATGCCAAGAAAGAGCGGGAAGAATCCTTGCCTAACCTGCTACAGTATGTGCGGATGCCCCTACTAACCCCCAGGTATATCACAGATGTAATAGATGCTGAGCCTTTCATCCGCTGTAGTTTACAATGCAGGGATCTGGTTGATGAAGCAAAGAAGTTTCATCTGAGGCCTGAACTTCGGAGTCAGATGCAGGGACCCAGGACAAGGGCTCGCCTAGGAGCCAATGAAGTGCTTTTGGTGGTTGGGGGCTTTGGAAGCCAGCAGTCTCCCATTGATGTGGTAGAGAAATATGACCCCAAGACTCAGGAGTGGAGCTTTTTGCCAAGCATCACTCGTAAGAGACGTTATGTGGCCTCAGTGTCCCTTCATGACCGGATCTACGTCATTGGTGGCTATGATGGCCGTTCCCGCCTTAGTTCAGTGGAATGTCTAGACTACACAGCAGATGAGGATGGGGTCTGGTATTCTGTGGCCCCTATGAATGTCCGACGAGGTCTTGCTGGAGCCACCACCCTGGGAGATATGATCTATGTCTCTGGAGGCTTTGATGGAAGCAGGCGTCACACCAGTATGGAGCGCTATGATCCAAACATTGACCAGTGGAGCATGCTGGGAGATATGCAGACAGCCCGGGAAGGTGCCGGACTCGTAGTGGCCAGTGGAGTGATCTACTGTCTAGGAGGATATGACGGCTTGAATATCTTAAATTCAGTTGAGAAATACGACCCTCATACAGGACATTGGACTAATGTTACACCAATGGCCACCAAGCGTTCTGGTGCAGGAGTAGCCCTGCTGAATGACCATATTTATGTGGTGGGGGGATTTGATGGTACAGCCCACCTTTCTTCCGTTGAAGCATACAACATTCGCACTGATTCCTGGACAACTGTCACCAGTATGACCACTCCACGATGCTATGTAGGGGCCACAGTGCTTCGGGGGAGACTCTATGCAATTGCAGGATATGATGGTAATTCCCTGCTAAGTAGCATTGAATGTTATGACCCTATCATCGACAGCTGGGAAGTCGTGACATCCATGGGAACCCAGCGCTGTGATGCTGGTGTTTGTGTTCTCCGCGAGAAGTGACCATTGTTGGAGCACCATCCAGAGCTAGTGACCAGTCCAGTGGACAGTTAGTGGGAGAATCAAAAATCCTTTCCAGAATGTCTGTTTCTCACTATGTGCACCGGGTGATTACAGGCACCAGTGCAGTGATGATTGTACTTATTTGACACATACTCCCCGTCGTCCTGGTTCTTGTTCCTGAGAAGGGTGGGTAACAGATATTCCAGGAAAAAGAATGCACATTGAATGGATGTGAGAGACCACATTGCCTCTCCCACTGCTTTGGGGAGCACTTTCCTGTCATTTCTAACTTACCACATGCTTGGTGTACTATATGTATGTTGTGCCTCATATGTTGCAAAGAACTAAGGTGAGTATAGCCTACTAGATATGGGCAATATCCAGCCTAGATGATTGGAAAGATACCAGTTTAAGTAAACTTGGTAAAATCCAAGTCTTTTTTTTTTTTTCCAGGAACAACTACATTTTCTCATATACAGGTAGCTAGGGGCAACACAGTTCCATTCTAGAGGGAAACAAAAGGGAGAGCCCCACAAAACTTTGGGGACAAGGGAGAGAGAGACTCATCTGACACTTCTTTTGGAGGTCAGGATTTGTATATCAGAATTGAAGTTAGAATTAAGTGAATTAAACTGAATTTGATTGTGAGTGAACCTAGAACAGCACTGAAGTATTACATAACCTGGAAGACTGAGAAGGGTATATTATTTGAAGGATCTTTTTATTTCCCCGAGGTCTTTCGCACTGGAGACAGCATAAAAGAGTGAACAAATGTTGGGATGAGAGAAGATGACATCAATGTGGGAGTTCAGTATAACTGGGGATAAACTAGAAGAACCTGTGATTTTACAGTCATCTTATTACCTGCCAGGGCTCATCTAGCCATGGCAATGTTTGCCTTGAATGGGGGTGAAAGCCTTTCTTTGTTGGATCAAATACTACTACACTATTACACTTCCACACTATTTATTTGGGGATGGGCTGGGAGTGACAGTAGCCTAGTAGTTCAGCTACCTGATTACTGCCCCATTCTTTTAGAAGCACATGTCTGCCAAGGAGTGGTTTGTACTGCTGTGTTTGGTACATCTAGTCTTTTTTCTGCTATAAGTTTTCCTTACCTGTCCTTTAGTGTAGATTTTATTCATCACAGGACAGAATAATCAAGGACAACCAAAATCCTTTTGTTAGTTTCAGTACCTCAGCTATCAACATTTCTGAGCTACCATTCAATGTTCCTCTGTGTCATGGAGTGAAATTCTTGTTTTGTGGGTATTAGGAGTGTGGGAATGTGATAACCTAAACAACCTTTGCTCTGAAATTCCATTTTTCCCTCTTTCCCTGAGTTGTATTGACCTACAGAGTTAATTTCCTTTGTATTTTTTTAAGAAAATATTAAAAATCAACGGTCTCAAA |