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2024-04-26 01:12:29, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001256476 1626 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens WD repeat domain 92 (WDR92), transcript variant 2,
mRNA.
ACCESSION NM_001256476
VERSION NM_001256476.1 GI:374429544
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 1626)
AUTHORS Kennedy,R.B., Ovsyannikova,I.G., Pankratz,V.S., Haralambieva,I.H.,
Vierkant,R.A. and Poland,G.A.
TITLE Genome-wide analysis of polymorphisms associated with cytokine
responses in smallpox vaccine recipients
JOURNAL Hum. Genet. 131 (9), 1403-1421 (2012)
PUBMED 22610502
REFERENCE 2 (bases 1 to 1626)
AUTHORS Cloutier,P., Al-Khoury,R., Lavallee-Adam,M., Faubert,D., Jiang,H.,
Poitras,C., Bouchard,A., Forget,D., Blanchette,M. and Coulombe,B.
TITLE High-resolution mapping of the protein interaction network for the
human transcription machinery and affinity purification of RNA
polymerase II-associated complexes
JOURNAL Methods 48 (4), 381-386 (2009)
PUBMED 19450687
REMARK GeneRIF: Is part of an RNA polymerase II-associated complex with
possible chaperone activity.
REFERENCE 3 (bases 1 to 1626)
AUTHORS Han,Z., Guo,L., Wang,H., Shen,Y., Deng,X.W. and Chai,J.
TITLE Structural basis for the specific recognition of methylated histone
H3 lysine 4 by the WD-40 protein WDR5
JOURNAL Mol. Cell 22 (1), 137-144 (2006)
PUBMED 16600877
REFERENCE 4 (bases 1 to 1626)
AUTHORS Saeki,M., Irie,Y., Ni,L., Yoshida,M., Itsuki,Y. and Kamisaki,Y.
TITLE Monad, a WD40 repeat protein, promotes apoptosis induced by
TNF-alpha
JOURNAL Biochem. Biophys. Res. Commun. 342 (2), 568-572 (2006)
PUBMED 16487927
REMARK GeneRIF: Monad may function as a novel modulator of apoptosis
pathway.
GeneRIF: Monad could be involved in apoptosis induced by TNF-alpha
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AC017083.7 and BC014022.2.
Summary: This gene encodes a protein with two WD40 repeat domains
thought to be involved in an apoptosis via activation of caspase-3.
Multiple transcript variants encoding different isoforms have been
found for this gene. [provided by RefSeq, Feb 2012].
Transcript Variant: This variant (2) differs in the 3' UTR and
coding region compared to variant 1. The resulting protein (isoform
2) has a shorter C-terminus compared to isoform 1.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
##Evidence-Data-START##
Transcript exon combination :: BC014022.2, AL540006.3 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-78 AC017083.7 76994-77071 c
79-1067 BC014022.2 1-989
1068-1068 AC017083.7 54128-54128 c
1069-1626 BC014022.2 990-1547
FEATURES Location/Qualifiers
source 1..1626
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2p14"
gene 1..1626
/gene="WDR92"
/note="WD repeat domain 92"
/db_xref="GeneID:116143"
/db_xref="HGNC:25176"
/db_xref="MIM:610729"
exon 1..300
/gene="WDR92"
/inference="alignment:Splign:1.39.8"
CDS 118..984
/gene="WDR92"
/note="isoform 2 is encoded by transcript variant 2;
monad; WD repeat-containing protein 92; WD
repeat-containing protein Monad"
/codon_start=1
/product="WD repeat-containing protein 92 isoform 2"
/protein_id="NP_001243405.1"
/db_xref="GI:374429545"
/db_xref="CCDS:CCDS58712.1"
/db_xref="GeneID:116143"
/db_xref="HGNC:25176"
/db_xref="MIM:610729"
/translation="
MSAFEKPQIIAHIQKGFNYTVFDCKWVPCSAKFVTMGNFARGTGVIQLYEIQHGDLKLLREIEKAKPIKCGTFGATSLQQRYLATGDFGGNLHIWNLEAPEMPVYSVKGHKEIINAIDGIGGLGIGEGAPEIVTGSRDGTVKVWDPRQKDDPVANMEPVQGENKRDCWTVAFGNAYNQEERVVCAGYDNGDIKLFDLRNMALRWETNIKNGVCSLEFDRKDISMNKLVATSLEGKFHVFDMRTQHPTKGFASVSEKAHKSTVWQVRHLPQNRELFLTAGGAGGLHLWK
"
misc_feature 127..>981
/gene="WDR92"
/note="FOG: WD40 repeat [General function prediction
only]; Region: COG2319"
/db_xref="CDD:32473"
misc_feature 151..981
/gene="WDR92"
/note="WD40 domain, found in a number of eukaryotic
proteins that cover a wide variety of functions including
adaptor/regulatory modules in signal transduction,
pre-mRNA processing and cytoskeleton assembly; typically
contains a GH dipeptide 11-24 residues from...; Region:
WD40; cl02567"
/db_xref="CDD:207648"
misc_feature order(163..168,220..222,232..234,262..267,307..309,
367..369,382..384,400..405,445..447,514..516,529..531,
547..552,601..606,670..672,682..684,700..705,736..741,
799..801,814..816,832..837,886..891,946..948,958..960,
976..981)
/gene="WDR92"
/note="structural tetrad; other site"
/db_xref="CDD:29257"
misc_feature 304..432
/gene="WDR92"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q96MX6.1);
Region: WD 1"
misc_feature 460..579
/gene="WDR92"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q96MX6.1);
Region: WD 2"
misc_feature 601..732
/gene="WDR92"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q96MX6.1);
Region: WD 3"
misc_feature 736..864
/gene="WDR92"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q96MX6.1);
Region: WD 4"
exon 301..401
/gene="WDR92"
/inference="alignment:Splign:1.39.8"
variation 304
/gene="WDR92"
/replace="a"
/replace="g"
/db_xref="dbSNP:11537860"
exon 402..532
/gene="WDR92"
/inference="alignment:Splign:1.39.8"
exon 533..634
/gene="WDR92"
/inference="alignment:Splign:1.39.8"
exon 635..750
/gene="WDR92"
/inference="alignment:Splign:1.39.8"
variation 724
/gene="WDR92"
/replace="c"
/replace="t"
/db_xref="dbSNP:35021866"
exon 751..885
/gene="WDR92"
/inference="alignment:Splign:1.39.8"
exon 886..1595
/gene="WDR92"
/inference="alignment:Splign:1.39.8"
STS 1224..1441
/gene="WDR92"
/standard_name="RH68554"
/db_xref="UniSTS:80497"
variation 1321
/gene="WDR92"
/replace="c"
/replace="t"
/db_xref="dbSNP:1054867"
ORIGIN
ggggcagaatacggaaagcgggagggacaaattgccaatgtttggagtctggtttccaggttgccgtttttgggggctctgggtgtggcggttgccgtagctgaaattggctgcaccatgtcggccttcgagaagcctcagatcatcgcccatatccagaagggcttcaactacacggtgtttgactgtaagtgggtgccctgcagcgccaaatttgtgaccatgggcaacttcgcacggggcaccggcgtcattcagctgtacgagatccagcacggggacctgaagctgcttcgggagattgaaaaggccaaacctattaaatgtggaacatttggtgcaacatctttacagcagagatatttagctactggagattttggtggaaaccttcatatatggaatttagaagctccagagatgccagtatattctgtaaagggccataaagaaattataaatgccatagatggcataggtggactaggaattggagaaggagcacctgaaattgtgactggcagccgagatggaactgtgaaggtgtgggacccaaggcaaaaagatgatcctgttgctaatatggaacctgtacaaggagaaaacaagagagactgttggactgtggcatttggcaatgcttataatcaagaagaacgtgttgtttgtgctggctatgacaatggggatatcaaactatttgatctcagaaatatggcattacggtgggagacaaacatcaaaaatggggtgtgtagcttggagtttgacagaaaagacataagtatgaataagttagtagccacatctctggaaggaaagttccatgtttttgacatgagaacacagcatccaaccaaaggttttgcctctgtttcagaaaaggctcataaatctactgtgtggcaggtccgacacctgccgcagaacagggagctctttctgacagctggaggcgccggcggccttcacctctggaagtagtaagtctgccagtgcacactgctccttttaaagttacctgtgggtgtaaagtaggattagattgaacttttttttcttttttttcctgctttgacttagttcattttgatatgatttaaaatttcatggtgttacataacttgttttctaagcattttgtatgaatatactttacacttagtagagtgtacactaatcttcttttgatacattttagtatatcattttagttgtgtcttctaagtatgaaaaagttggcccaagacttttatcagatactatcttgaagtgattagaacactcactgcctctaaaagatggggaaagggttccttgcctaaatttagataacatcattgtgatagaccccaacagagcctgaggctgctgattggtctccaggaaagatcttatcactgaatttgctttctgcatatctaggcagggtgagttacaatgaaagcttttactatgcacaccactttctgaatcccaagggcgctaacatcacagatactagatcatttaaaaggtctgatatcattgctcagggttggcctgtgaaaaggaaacaaaacaaaacaaaacaaaaattaaaggtctgataaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:116143 -> Molecular function: GO:0035064 [methylated histone residue binding] evidence: IDA
GeneID:116143 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:116143 -> Biological process: GO:0034968 [histone lysine methylation] evidence: IDA
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@meso_cacase at
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