GGRNA Home | Help | Advanced search

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
//

Annotations:

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

by @meso_cacase at DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.