2024-03-29 23:55:23, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001242918 1550 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens zinc finger, AN1-type domain 6 (ZFAND6), transcript variant 9, mRNA. ACCESSION NM_001242918 VERSION NM_001242918.1 GI:339276077 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 1550) AUTHORS Chang,E.J., Ha,J., Kang,S.S., Lee,Z.H. and Kim,H.H. TITLE AWP1 binds to tumor necrosis factor receptor-associated factor 2 (TRAF2) and is involved in TRAF2-mediated nuclear factor-kappaB signaling JOURNAL Int. J. Biochem. Cell Biol. 43 (11), 1612-1620 (2011) PUBMED 21810480 REMARK GeneRIF: The AN1 domain of AWP1 mediated the functional interaction with tumor necrosis factor receptor-associated factor 2, and the A20 domain was responsible for the negative regulation of nuclear factor kappaB activation. REFERENCE 2 (bases 1 to 1550) AUTHORS de Miguel-Yanes,J.M., Shrader,P., Pencina,M.J., Fox,C.S., Manning,A.K., Grant,R.W., Dupuis,J., Florez,J.C., D'Agostino,R.B. Sr., Cupples,L.A. and Meigs,J.B. CONSRTM MAGIC Investigators; DIAGRAM+ Investigators TITLE Genetic risk reclassification for type 2 diabetes by age below or above 50 years using 40 type 2 diabetes risk single nucleotide polymorphisms JOURNAL Diabetes Care 34 (1), 121-125 (2011) PUBMED 20889853 REMARK GeneRIF: Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator) REFERENCE 3 (bases 1 to 1550) AUTHORS Cao,Y.K., Mo,Y.Y., Tian,F.Z., Liu,Y.W., Deng,P., Qin,Q.H. and Jiang,Y. TITLE [Construction of GFP-AWP1 fusion gene vector and its expression in 293 cells] JOURNAL Di Yi Jun Yi Da Xue Xue Bao 25 (2), 174-176 (2005) PUBMED 15698998 REFERENCE 4 (bases 1 to 1550) AUTHORS Duan,W., Sun,B., Li,T.W., Tan,B.J., Lee,M.K. and Teo,T.S. TITLE Cloning and characterization of AWP1, a novel protein that associates with serine/threonine kinase PRK1 in vivo JOURNAL Gene 256 (1-2), 113-121 (2000) PUBMED 11054541 REFERENCE 5 (bases 1 to 1550) AUTHORS Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and Wiemann,S. TITLE Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing JOURNAL EMBO Rep. 1 (3), 287-292 (2000) PUBMED 11256614 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DB050060.1, BP231220.1, AC092701.2 and AW571396.1. Transcript Variant: This variant (9) differs in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (c) is shorter than isoform a. ##Evidence-Data-START## Transcript exon combination :: BP231220.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025085 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-122 DB050060.1 1-122 123-699 BP231220.1 1-577 700-1525 AC092701.2 7030-7855 c 1526-1550 AW571396.1 1-25 c FEATURES Location/Qualifiers source 1..1550 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="15" /map="15q25.1" gene 1..1550 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /note="zinc finger, AN1-type domain 6" /db_xref="GeneID:54469" /db_xref="HGNC:30164" /db_xref="MIM:610183" exon 1..242 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /inference="alignment:Splign:1.39.8" variation 24 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="a" /replace="c" /db_xref="dbSNP:149713967" variation 33 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="a" /replace="c" /db_xref="dbSNP:62006302" variation 61 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="g" /replace="t" /db_xref="dbSNP:17525827" variation 215 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="c" /replace="t" /db_xref="dbSNP:1140650" exon 243..413 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /inference="alignment:Splign:1.39.8" variation 249 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="a" /replace="g" /db_xref="dbSNP:199824008" CDS 260..772 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /note="isoform c is encoded by transcript variant 9; zinc finger, A20 domain containing 3; protein associated with PRK1; AN1-type zinc finger protein 6" /codon_start=1 /product="AN1-type zinc finger protein 6 isoform c" /protein_id="NP_001229847.1" /db_xref="GI:339276078" /db_xref="GeneID:54469" /db_xref="HGNC:30164" /db_xref="MIM:610183" /translation="
MAQETNHSQVPMLCSTGCGFYGNPRTNGMCSVCYKEHLQRQNSSNGRISPPATSVSSLSESLPVQCTDGSVPEAQSALDSTSSSMQPSPVSNQSLLSESVASSQLDSTSVDKAVPETEDVQGFECRCGNVYCGVHRYSDVHNCSYNYKADAAEKIRKENPVVVGEKIQKI
" misc_feature 290..364 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /note="A20-like zinc finger; Region: zf-A20; pfam01754" /db_xref="CDD:201955" misc_feature <623..712 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /note="AN1-like Zinc finger; Region: zf-AN1; pfam01428" /db_xref="CDD:201791" variation 262 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="a" /replace="g" /db_xref="dbSNP:199812490" variation 316..317 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="" /replace="ttttt" /db_xref="dbSNP:377119303" variation 355 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="a" /replace="g" /db_xref="dbSNP:147450412" variation 364 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="a" /replace="g" /db_xref="dbSNP:180695554" variation 391 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="c" /replace="t" /db_xref="dbSNP:377732231" variation 400 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="a" /replace="g" /db_xref="dbSNP:370987142" exon 414..522 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /inference="alignment:Splign:1.39.8" variation 433 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="a" /replace="g" /db_xref="dbSNP:372075821" variation 454 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="a" /replace="g" /db_xref="dbSNP:56296028" variation 472 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="g" /replace="t" /db_xref="dbSNP:142826314" variation 492 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="" /replace="t" /db_xref="dbSNP:35882905" variation 512 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="a" /replace="g" /db_xref="dbSNP:201923212" exon 523..623 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /inference="alignment:Splign:1.39.8" variation 524 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="c" /replace="t" /db_xref="dbSNP:371672655" variation 529 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="a" /replace="g" /db_xref="dbSNP:112075519" variation 534 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="a" /replace="c" /db_xref="dbSNP:11554805" variation 546 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="c" /replace="t" /db_xref="dbSNP:368985546" variation 547 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="a" /replace="g" /db_xref="dbSNP:151059961" variation 555 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="c" /replace="t" /db_xref="dbSNP:200534739" variation 563 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="g" /replace="t" /db_xref="dbSNP:147509612" variation 577 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="c" /replace="g" /db_xref="dbSNP:201635973" variation 604 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="c" /replace="t" /db_xref="dbSNP:149918624" variation 607 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="a" /replace="c" /db_xref="dbSNP:146488669" exon 624..1537 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /inference="alignment:Splign:1.39.8" variation 677 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="a" /replace="g" /db_xref="dbSNP:141077255" variation 684 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="a" /replace="g" /db_xref="dbSNP:144905247" variation 711 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="c" /replace="g" /db_xref="dbSNP:371685766" variation 752 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="c" /replace="t" /db_xref="dbSNP:12890" variation 778 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="a" /replace="t" /db_xref="dbSNP:185069607" STS 941..1063 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /standard_name="RH94373" /db_xref="UniSTS:92596" variation 1105 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="a" /replace="g" /db_xref="dbSNP:147191208" variation 1114 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="c" /replace="t" /db_xref="dbSNP:189624188" variation 1322 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="c" /replace="t" /db_xref="dbSNP:115600191" variation 1352..1353 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="" /replace="t" /db_xref="dbSNP:201030333" variation 1365 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="a" /replace="g" /db_xref="dbSNP:181224064" variation 1386 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="c" /replace="t" /db_xref="dbSNP:186689879" variation 1451 /gene="ZFAND6" /gene_synonym="AWP1; ZA20D3; ZFAND5B" /replace="a" /replace="g" /db_xref="dbSNP:138866718" ORIGIN
aataattagcgggcgggcggggcccgcgcgtcagccgcgggagccggccaatccagtggctctcctccgcggtcgcgtcataggccgaacaaccaaacagaaaagtttaataaacagcggacggaggggccggcggtggcggagccggagcaagcaggggttcggcggcattacctgtacccattcaccggcggctaccggcggcggcgcgcagcgtgtcaggcggagagacccgccgccaggtgtgcaactgaggaacatggctcaagaaactaatcacagccaagtgcctatgctttgttccactggctgtggattttatggaaaccctcgtacaaatggcatgtgttcagtatgctataaagaacatcttcaaagacagaatagtagtaatggtagaataagcccacctgcaacctctgtcagtagtctgtctgaatctttaccagttcaatgcacagatggcagtgtgccagaagcccagtcagcattagactctacatcttcatctatgcagcccagccctgtatcaaatcagtcacttttatcagaatctgtagcatcttctcaattggacagtacatctgtggacaaagcagtacctgaaacagaagatgtgcaggggtttgaatgccggtgtggaaatgtttactgtggtgtacaccgttactcagatgtacacaattgctcttacaattacaaagccgatgctgctgagaaaatcagaaaagaaaatccagtagttgttggtgaaaagatccaaaagatttgaactcctgctggaatacaaaattcttgagcatctgcaaactaaaaattgacttgaggttttttttttcctagtcattgggaatgtagagcagtgtatcttgcatgtcatcggaagaatagatttttgttttggttttgttttgaaaatgactctgaacatttatttccattgcaatttctgtggctgaggagacttaaactttacaagtattatccttttaagatcattttaattttagttgagtgcagagggcttttataacaaacgtgcagaaattttggagggctgtgatttttccagtattaaacatgcatgcattaatcttgcagtttattttctcattgtgtatgtatatatcgcttttctctgcagcacgatttctcttttgataatgccctttagggcacaactagttatcagtaactgaatgtatcttaatcattatggctgcttctgttttttcattaacaaaggttattcatatgttagcatatagtttctttgcacccactatttatgtctgaatcatttgtcacaagagagtgtgtgctgatgagattgtaagtttgtgtgtttaaacttttttttgagcgagggaagaaaaagctgtatgcatttcattgctgtctacaggtttctttcagattatgttcatgggtttgtgtgtatacaatatgaagaatgatctgaagtaattgtgctgtatttatgtttattcaccagtctttgattaaataaaaaggaaaaccagaatgctcccttgtaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:54469 -> Molecular function: GO:0003674 [molecular_function] evidence: ND GeneID:54469 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA GeneID:54469 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:54469 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA GeneID:54469 -> Molecular function: GO:0031593 [polyubiquitin binding] evidence: ISS GeneID:54469 -> Biological process: GO:0006625 [protein targeting to peroxisome] evidence: ISS GeneID:54469 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:54469 -> Biological process: GO:0008150 [biological_process] evidence: ND GeneID:54469 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: IMP GeneID:54469 -> Biological process: GO:0043122 [regulation of I-kappaB kinase/NF-kappaB cascade] evidence: IMP GeneID:54469 -> Biological process: GO:0071356 [cellular response to tumor necrosis factor] evidence: IMP GeneID:54469 -> Cellular component: GO:0005575 [cellular_component] evidence: ND GeneID:54469 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA
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