|
|
||
|
|
||
| General information | Expression | Regulation | Mutation | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 139285 |
Name | FAM123B |
Synonym | AMER1|OSCS|WTX;family with sequence similarity 123B;FAM123B;family with sequence similarity 123B |
Definition | Wilms tumor gene on the X chromosome protein|Wilms tumor on the X|adenomatous polyposis coli membrane recruitment 1|protein FAM123B |
Position | Xq11.2 |
Gene Type | protein-coding |
Source | Count: 2; Pubmed_search,Generif |
Literature support | Count: 6 PubMed records as below. |
|
Evidence Status |
Description |
reviewed | The constellation of anomalies in Wtx null mice suggests that this tumor suppressor broadly regulates mesenchymal progenitor cells in multiple tissues. |
reviewed | Functional characterization of Wilms tumor-suppressor WTX and tumor-associated mutants. |
reviewed | The tumor suppressor WTX shuttles to the nucleus and modulates WT1 activity. |
reviewed | tumor suppressor WTX gene mutation is rare in acute leukemias. |
potential | "Gene has a tumor suppressor function in Wilms tumors, and is involved in beta-catenin destruction." |
potential | "findings show that WTX, a protein encoded by a gene mutated in Wilms tumors, forms a complex with beta-catenin, AXIN1, beta-TrCP2 and APC; data provide a possible mechanistic explanation for the tumor suppressor activity of WTX". |
| More detail of all 6 literatures about FAM123B | |
|
Pathways and Diseases |
|
Pathway | Canonical Wnt signaling pathway;PID Curated;200064 |
Disease | Osteopathia striata with cranial sclerosis;OMIM |
|
External Links |
|
Links to Entrez Gene | 139285 |
Links to all GeneRIF Items | 139285 |
Links to iHOP | 139285 |
|
Sequence Information |
|
Nucleotide Sequence |
>139285 : length: 3408 atggagacccaaaaggatgaagctgctcaggccaagggagctgcagcctctgggagtacc cgtgaacaaacagcagaaaaaggagccaagaacaaggcagctgaggcgacagaaggacca acctcagagccatcctcatccggcccaggtaggctgaagaaaactgccatgaaactcttt ggtggcaagaagggtatctgtactctgcctagtttctttggagggggacggagcaaaggt tctgggaaaggcagctccaagaaaggtctcagcaagagcaagacccacgatggcctgagt gaagcagcccatggccctgaagatgttgtcagtgaaggaactggcttctccctgcctttg cctgagttaccctgccaatttcccagctctcagagtgcccatggggctttggagacaggc tccagatgtaagacatctgtggctggagccacagagaaagctgtggctgagaagtttccc tctatgcccaagccaaagaaaggcctaaaaggcttttttagcagtatccgccgtcaccgg aagagcaaggtcactggggctgagcaaagtgagccaggggccaaggggcctgagagggtc agagccaggcctcatgagcacgtgagctcagcccctcaggtgccctgctttgaggagacc ttccaagcccctagaaaggaaaatgctaacccccaagatgcccctgggccaaaagtttct ccaacaccagaaccttctccaccagctactgagaaaatggcctgtaaagatccagaaaaa cccatggaggcctgtgcctcagcacatgtgcaacccaagcctgcccctgaagccagtagc ctagaggagccccatagcccagaaacaggggagaaggtagtagcaggagaggtaaaccca cccaatggccctgtgggggacccactgagcctcttgtttggggatgtgacatccctgaaa agctttgattcattgacaggttgtggtgacataatagcagaacaggacatggacagtatg acagacagcatggcctctgggggccagagagcaaaccgagatgggaccaagcgaagttcc tgcctggtgacctaccaaggaggtggggaggagatggccttgccagatgatgatgacgag gaggaagaagaggaagaagaggtggaattagaggaggaagaagaggaggttaaggaggag gaagaagatgatgacttagaatatctgtgggaaactgcccaaatgtatccacggcccaat atgaacctgggctaccatcccaccacatccccaggccaccacggctacatgctccttgac ccagttaggtcttatcctggcctagcccctggggaacttttgactcctcagagtgaccag caagaatccgcccccaatagtgatgaaggttattatgactccaccacacctggatttgag gatgattcaggtgaggccctggggcttgtccgcagggattgtctaccccgagacagctac agtggagatgccctatatgagttctatgagccagatgacagccttgagaactctccacct ggagatgactgcctttatgacctccatggtcgaagctctgagatgtttgaccccttctta aactttgagccctttttgtcctcccggccacctggggcaatggagacagaggaagaacgg ctagtgaccatccagaaacagttgttgtattgggagcttcggcgggagcagcttgaggcc caggaggcacgtgcccgagaagctcatgccagggaggcccacgccagggaggcctatact cgagaggcttatggcagggaagcctatgccagggaggcccacacttgggaagctcatggc agggaggccagaacccgagaagcccaggcccgagaggttcgttgtagagagactcaagtc cgagagacccaggcccggcaggagaagcccgtcttagagtatcagatgaggcccttaggc ccatcagtgatgggcctggcagcaggggtatcagggacctctcagatttcccaccgggga attacctcagctttccccaccactgcaagcagcgagccagactggagggacttccgtcct ctggagaagcgttatgaaggaacctgctccaagaaagatcaaagtacctgcctgatgcag ctcttccagagtgatgccatgtttgagccagacatgcaagaagcaaattttggaggatct cccaggagggcctaccctacttattcaccccctgaagatccagaggaagaggaggttgag aaggaagggaatgccactgtgagtttctcacaggccctggtagagttcaccagcaatggg aacctcttttccagcatgtcctgcagctctgactctgactcatctttcactcaaaacctc cctgagctgcctcccatggtgacctttgacatcgctgatgtggaacgggatggggaaggc aagtgtgaagagaatcctgagttccacaatgatgaagatcttgcagcctccttggaagcc tttgagctgggctactatcacaaacatgccttcaacaactaccatagtcgattctaccaa ggcctgccctggggtgtgagcagcctccctcgatacttgggactgcctggcctgcaccct cgacctccacctgctgctatggccctcaacaggagaagccgctctctcgacactgcagag accctggagatggagctctccaattcccacttggtccagggctacctcgagtctgatgag ctgcaggcccagcaggaagattcagatgaggaggacgaagaggaggaagaaggagaatgg agccgagacagtcccctttccctctatactgaacccccaggggcctatgattggcctgct tgggctccctgtcctcttccagtggggccaggtcctgcctggataagccccaaccagttg gacaggccttccagccagtctccatataggcaggcaacctgttgcatacctcctatgacc atgtcaatatcactatcagtgccagagtcaagggcacctggggaatctgggcctcaacta gctcgtccctcacacctacacctgcccatgggcccttgctataacctccagccacaggcc tcccagagcatgagggccaggcctcgagatgtgctgctgcctgttgatgagcccagttgc tcttccagttctggaggcttcagccccagccctctaccacaggccaagcctgtgggcatc acccatggcattcctcagctgcccagggtccggcctgagcacccccagcctcagcccact cactatgggccttccagccttgacctgtcaaaggagagggctgagcaaggtgcctctctt gccaccagctactcctccactgccatgaatggaaacctagccaagtag |
Protein Sequence |
>139285 : length: 1135 METQKDEAAQAKGAAASGSTREQTAEKGAKNKAAEATEGPTSEPSSSGPGRLKKTAMKLF GGKKGICTLPSFFGGGRSKGSGKGSSKKGLSKSKTHDGLSEAAHGPEDVVSEGTGFSLPL PELPCQFPSSQSAHGALETGSRCKTSVAGATEKAVAEKFPSMPKPKKGLKGFFSSIRRHR KSKVTGAEQSEPGAKGPERVRARPHEHVSSAPQVPCFEETFQAPRKENANPQDAPGPKVS PTPEPSPPATEKMACKDPEKPMEACASAHVQPKPAPEASSLEEPHSPETGEKVVAGEVNP PNGPVGDPLSLLFGDVTSLKSFDSLTGCGDIIAEQDMDSMTDSMASGGQRANRDGTKRSS CLVTYQGGGEEMALPDDDDEEEEEEEEVELEEEEEEVKEEEEDDDLEYLWETAQMYPRPN MNLGYHPTTSPGHHGYMLLDPVRSYPGLAPGELLTPQSDQQESAPNSDEGYYDSTTPGFE DDSGEALGLVRRDCLPRDSYSGDALYEFYEPDDSLENSPPGDDCLYDLHGRSSEMFDPFL NFEPFLSSRPPGAMETEEERLVTIQKQLLYWELRREQLEAQEARAREAHAREAHAREAYT REAYGREAYAREAHTWEAHGREARTREAQAREVRCRETQVRETQARQEKPVLEYQMRPLG PSVMGLAAGVSGTSQISHRGITSAFPTTASSEPDWRDFRPLEKRYEGTCSKKDQSTCLMQ LFQSDAMFEPDMQEANFGGSPRRAYPTYSPPEDPEEEEVEKEGNATVSFSQALVEFTSNG NLFSSMSCSSDSDSSFTQNLPELPPMVTFDIADVERDGEGKCEENPEFHNDEDLAASLEA FELGYYHKHAFNNYHSRFYQGLPWGVSSLPRYLGLPGLHPRPPPAAMALNRRSRSLDTAE TLEMELSNSHLVQGYLESDELQAQQEDSDEEDEEEEEGEWSRDSPLSLYTEPPGAYDWPA WAPCPLPVGPGPAWISPNQLDRPSSQSPYRQATCCIPPMTMSISLSVPESRAPGESGPQL ARPSHLHLPMGPCYNLQPQASQSMRARPRDVLLPVDEPSCSSSSGGFSPSPLPQAKPVGI THGIPQLPRVRPEHPQPQPTHYGPSSLDLSKERAEQGASLATSYSSTAMNGNLAK |