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2024-04-25 01:40:15, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001242917 1672 bp mRNA linear PRI 15-APR-2013
DEFINITION Homo sapiens zinc finger, AN1-type domain 6 (ZFAND6), transcript
variant 8, mRNA.
ACCESSION NM_001242917
VERSION NM_001242917.1 GI:339276074
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 1672)
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 1672)
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 1672)
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 1672)
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 1672)
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, AF061739.1, AC092701.2 and AW571396.1.
Transcript Variant: This variant (8) differs in the 5' UTR and uses
an alternate in-frame splice site in the 5' coding region, compared
to variant 1. The encoded isoform (b) is shorter than isoform a.
##Evidence-Data-START##
Transcript exon combination :: AF061739.1 [ECO:0000332]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-150 DB050060.1 1-150
151-686 AF061739.1 92-627
687-690 AC092701.2 14173-14176 c
691-1444 AF061739.1 631-1384
1445-1672 AW571396.1 1-228 c
FEATURES Location/Qualifiers
source 1..1672
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="15"
/map="15q25.1"
gene 1..1672
/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"
misc_feature 7..9
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/note="upstream in-frame stop codon"
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..286
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/inference="alignment:Splign:1.39.8"
exon 287..457
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/inference="alignment:Splign:1.39.8"
variation 293
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="a"
/replace="g"
/db_xref="dbSNP:199824008"
CDS 304..894
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/note="isoform b is encoded by transcript variant 8; 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 b"
/protein_id="NP_001229846.1"
/db_xref="GI:339276075"
/db_xref="CCDS:CCDS58395.1"
/db_xref="GeneID:54469"
/db_xref="HGNC:30164"
/db_xref="MIM:610183"
/translation="
MAQETNHSQVPMLCSTGCGFYGNPRTNGMCSVCYKEHLQRQNSSNGRISPPVQCTDGSVPEAQSALDSTSSSMQPSPVSNQSLLSESVASSQLDSTSVDKAVPETEDVQASVSDTAQQPSEEQSKSLEKPKQKKNRCFMCRKKVGLTGFECRCGNVYCGVHRYSDVHNCSYNYKADAAEKIRKENPVVVGEKIQKI
"
misc_feature 334..408
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/note="A20-like zinc finger; Region: zf-A20; pfam01754"
/db_xref="CDD:201955"
misc_feature 712..825
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/note="AN1-like Zinc finger; Region: ZnF_AN1; smart00154"
/db_xref="CDD:197545"
variation 306
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="a"
/replace="g"
/db_xref="dbSNP:199812490"
variation 360..361
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace=""
/replace="ttttt"
/db_xref="dbSNP:377119303"
variation 399
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="a"
/replace="g"
/db_xref="dbSNP:147450412"
variation 408
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="a"
/replace="g"
/db_xref="dbSNP:180695554"
variation 435
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="c"
/replace="t"
/db_xref="dbSNP:377732231"
variation 444
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="a"
/replace="g"
/db_xref="dbSNP:370987142"
exon 458..530
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/inference="alignment:Splign:1.39.8"
variation 462
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="a"
/replace="g"
/db_xref="dbSNP:56296028"
variation 480
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="g"
/replace="t"
/db_xref="dbSNP:142826314"
variation 500
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace=""
/replace="t"
/db_xref="dbSNP:35882905"
variation 520
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="a"
/replace="g"
/db_xref="dbSNP:201923212"
exon 531..631
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/inference="alignment:Splign:1.39.8"
variation 532
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="c"
/replace="t"
/db_xref="dbSNP:371672655"
variation 537
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="a"
/replace="g"
/db_xref="dbSNP:112075519"
variation 542
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="a"
/replace="c"
/db_xref="dbSNP:11554805"
variation 554
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="c"
/replace="t"
/db_xref="dbSNP:368985546"
variation 555
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="a"
/replace="g"
/db_xref="dbSNP:151059961"
variation 563
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="c"
/replace="t"
/db_xref="dbSNP:200534739"
variation 571
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="g"
/replace="t"
/db_xref="dbSNP:147509612"
variation 585
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="c"
/replace="g"
/db_xref="dbSNP:201635973"
variation 612
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="c"
/replace="t"
/db_xref="dbSNP:149918624"
variation 615
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="a"
/replace="c"
/db_xref="dbSNP:146488669"
exon 632..745
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/inference="alignment:Splign:1.39.8"
variation 687
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="a"
/replace="t"
/db_xref="dbSNP:12577"
variation 697
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="a"
/replace="g"
/db_xref="dbSNP:15416"
exon 746..1659
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/inference="alignment:Splign:1.39.8"
variation 799
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="a"
/replace="g"
/db_xref="dbSNP:141077255"
variation 806
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="a"
/replace="g"
/db_xref="dbSNP:144905247"
variation 833
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="c"
/replace="g"
/db_xref="dbSNP:371685766"
variation 874
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="c"
/replace="t"
/db_xref="dbSNP:12890"
variation 900
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="a"
/replace="t"
/db_xref="dbSNP:185069607"
STS 1063..1185
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/standard_name="RH94373"
/db_xref="UniSTS:92596"
variation 1227
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="a"
/replace="g"
/db_xref="dbSNP:147191208"
variation 1236
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="c"
/replace="t"
/db_xref="dbSNP:189624188"
variation 1444
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="c"
/replace="t"
/db_xref="dbSNP:115600191"
variation 1474..1475
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace=""
/replace="t"
/db_xref="dbSNP:201030333"
variation 1487
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="a"
/replace="g"
/db_xref="dbSNP:181224064"
variation 1508
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="c"
/replace="t"
/db_xref="dbSNP:186689879"
variation 1573
/gene="ZFAND6"
/gene_synonym="AWP1; ZA20D3; ZFAND5B"
/replace="a"
/replace="g"
/db_xref="dbSNP:138866718"
ORIGIN
aataattagcgggcgggcggggcccgcgcgtcagccgcgggagccggccaatccagtggctctcctccgcggtcgcgtcataggccgaacaaccaaacagaaaagtttaataaacagcggacggaggggccggcggtggcggagccggagcaagcaggggttcggcggcattacctgtacccattcaccggcggctaccggcggcggcgcgcagcgtgtcaggcggagagacccgccgccagatcaaaagacactgacttagctgcttaccagaaggggaacttgggtgtgcaactgaggaacatggctcaagaaactaatcacagccaagtgcctatgctttgttccactggctgtggattttatggaaaccctcgtacaaatggcatgtgttcagtatgctataaagaacatcttcaaagacagaatagtagtaatggtagaataagcccacctgttcaatgcacagatggcagtgtgccagaagcccagtcagcattagactctacatcttcatctatgcagcccagccctgtatcaaatcagtcacttttatcagaatctgtagcatcttctcaattggacagtacatctgtggacaaagcagtacctgaaacagaagatgtgcaggcttcagtatcagacacagcacagcagccatctgaagagcaaagcaagtctcttgaaaaaccgaaacaaaaaaagaatcgctgtttcatgtgcaggaagaaagtgggacttactgggtttgaatgccggtgtggaaatgtttactgtggtgtacaccgttactcagatgtacacaattgctcttacaattacaaagccgatgctgctgagaaaatcagaaaagaaaatccagtagttgttggtgaaaagatccaaaagatttgaactcctgctggaatacaaaattcttgagcatctgcaaactaaaaattgacttgaggttttttttttcctagtcattgggaatgtagagcagtgtatcttgcatgtcatcggaagaatagatttttgttttggttttgttttgaaaatgactctgaacatttatttccattgcaatttctgtggctgaggagacttaaactttacaagtattatccttttaagatcattttaattttagttgagtgcagagggcttttataacaaacgtgcagaaattttggagggctgtgatttttccagtattaaacatgcatgcattaatcttgcagtttattttctcattgtgtatgtatatatcgcttttctctgcagcacgatttctcttttgataatgccctttagggcacaactagttatcagtaactgaatgtatcttaatcattatggctgcttctgttttttcattaacaaaggttattcatatgttagcatatagtttctttgcacccactatttatgtctgaatcatttgtcacaagagagtgtgtgctgatgagattgtaagtttgtgtgtttaaacttttttttgagcgagggaagaaaaagctgtatgcatttcattgctgtctacaggtttctttcagattatgttcatgggtttgtgtgtatacaatatgaagaatgatctgaagtaattgtgctgtatttatgtttattcaccagtctttgattaaataaaaaggaaaaccagaatgctcccttgtaaaaaaaaaaaaaa
//
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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