Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 2, mRNA.
| RefSeq Version | NM_016621.3, 156546909 |
| Length | 7194 bp |
| Structure | linear |
| Update Date | 11-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 2, mRNA. |
| Product | PHD finger protein 21A isoform b |
| Comment | Summary: The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by OMIM]. Transcript Variant: This variant (2) uses an alternate in-frame splice site in the mid-coding region, and includes an alternate in-frame exon in the 3' coding region, but lacks a different alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting protein (isoform b) is shorter than isoform a. COMPLETENESS: complete on the 3' end. |
| RefSeq | NP_057705.3 |
| CDS | 625..2529 | Exon (1) | 1..500 | Exon (2) | 1..500 | Exon (3) | 501..541 | Exon (4) | 542..678 | Exon (5) | 679..711 | Exon (6) | 712..777 | Exon (7) | 778..984 | Exon (8) | 985..1236 | Exon (9) | 1237..1326 | Exon (10) | 1327..1620 | Exon (11) | 1621..1719 | Exon (12) | 1720..1771 | Exon (13) | 1772..1851 | Exon (14) | 1852..1912 | Exon (15) | 1913..1935 | Exon (16) | 1936..2091 | Exon (17) | 2092..2167 | Exon (18) | 2168..2271 | Exon (19) | 2272..7178 |
| Translation | MELQTLQEALKVEIQVHQKLVAQMKQDPQNADLKKQLHELQAKITALSEKQKRVVEQLRK
NLIVKQEQPDKFQIQPLPQSENKLQTAQQQPLQQLQQQQQYHHHHAQQSAAASPNLTASQ
KTVTTASMITTKTLPLVLKAATATMPASVVGQRPTIAMVTAINSQKAVLSTDVQNTPVNL
QTSSKVTGPGAEAVQIVAKNTVTLQVQATPPQPIKVPQFIPPPRLTPRPNFLPQVRPKPV
AQNNIPIAPAPPPMLAAPQLIQRPVMLTKFTPTTLPTSQNSIHPVRVVNGQTATIAKTFP
MAQLTSIVIATPGTRLAGPQTVQLSKPSLEKQTVKSHTETDEKQTESRTITPPAAPKPKR
EENPQKLAFMVSLGLVTHDHLEEIQSKRQERKRRTTANPVYSGAVFEPERKKSAVTYLNS
TMHPGTRKRANEEHWPKGDIHEDFCSVCRKSGQLLMCDTCSRVYHLDCLDPPLKTIPKGM
WICPRCQDQMLKKEEAIPWPGTLAIVHSYIAYKAAKEEEKQKLLKWSSDLKQEREQLEQK
VKQLSNSISKCMEMKNTILARQKEMHSSLEKVKQLIRLIHGIDLSKPVDSEATVGAISNG
PDCTPPANAATSTPAPSPSSQSCTANCNQGEETK
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| Position | Chain | Variation | Link |
| complement(231..232) | - | , ctctctct | dbSNP:60788619 |
| complement(239..240) | - | , tctctctc | dbSNP:72390890 |
| complement(243) | - | g, c | dbSNP:61884082 |
| complement(244) | - | t, c | dbSNP:61884081 |
| complement(252..253) | - | , ctctct | dbSNP:72489401 |
| complement(254) | - | t, a | dbSNP:76438715 |
| complement(262) | - | t, a | dbSNP:77717223 |
| complement(865) | - | c, a | dbSNP:117121405 |
| complement(1161) | - | g, a | dbSNP:75969129 |
| complement(1491) | - | c, a | dbSNP:76787394 |
| 1506 | + | c, t | dbSNP:35646259 |
| complement(1599) | - | t, g | dbSNP:114958463 |
| complement(1667) | - | t, c | dbSNP:3736508 |
| 1963 | + | a, g | dbSNP:35429504 |
| complement(2355) | - | g, a | dbSNP:112782705 |
| complement(2413) | - | t, g | dbSNP:76343926 |
| 2467 | + | a, g | dbSNP:1063809 |
| 2468 | + | c, g | dbSNP:1063810 |
| 2499 | + | a, g | dbSNP:35170501 |
| complement(3007) | - | t, c | dbSNP:114235380 |
| complement(3265) | - | t, c | dbSNP:80355554 |
| complement(3372) | - | t, c | dbSNP:118078746 |
| complement(3462) | - | g, a | dbSNP:116454806 |
| complement(3561) | - | c, a | dbSNP:35588803 |
| complement(3767) | - | t, c | dbSNP:11537991 |
| complement(4345) | - | , agcct | dbSNP:58986806 |
| complement(4850) | - | t, c | dbSNP:11547493 |
| complement(4944) | - | g, a | dbSNP:74566099 |
| complement(4985) | - | g, a | dbSNP:112057727 |
| complement(5114) | - | t, a | dbSNP:79181301 |
| complement(5220..5221) | - | , ag | dbSNP:67160660 |
| complement(5220) | - | t, g | dbSNP:76129302 |
| complement(5221..5222) | - | , ag | dbSNP:55895611 |
| complement(5221) | - | g, a | dbSNP:78529643 |
| complement(5222..5223) | - | , ag | dbSNP:34311107 |
| complement(5223..5224) | - | , ag | dbSNP:3833430 |
| complement(5480) | - | t, a | dbSNP:78566865 |
| complement(5581..5582) | - | , c | dbSNP:61505607 |
| complement(5588..5589) | - | , c | dbSNP:71698545 |
| complement(5590..5591) | - | , c | dbSNP:67350939 |
| complement(5626) | - | t, c | dbSNP:114914523 |
| complement(5737) | - | g, a | dbSNP:2863714 |
| complement(5865..5866) | - | , t | dbSNP:35128677 |
| complement(6197) | - | t, c | dbSNP:80116517 |
| complement(6305) | - | g, a | dbSNP:61882483 |
| complement(6568) | - | t, g | dbSNP:78915745 |
| complement(6742) | - | t, c | dbSNP:10838533 |
| complement(6766) | - | t, c | dbSNP:78017238 |
| complement(6888) | - | t, c | dbSNP:113392556 |
| Gene Symbol | PHF21A |
| Gene Synonym | BHC80; BM-006; KIAA1696 |
| Chromosome | 11 |
| Locus Map | 11p11.2 |
| All Transcripts | NM_016621 , NM_001101802 |
| Title | Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies . |
| Author | Elks,C.E., Perry,J.R., Sulem,P., Chasman,D.I., Franceschini,N., He,C., Lunetta,K.L., Visser,J.A., Byrne,E.M., Cousminer,D.L., Gudbjartsson,D.F., Esko,T., Feenstra,B., Hottenga,J.J., Koller,D.L., Kutalik,Z., Lin,P., Mangino,M., Marongiu,M., McArdle,P.F., Smith,A.V., Stolk,L., van Wingerden,S.H., Zhao,J.H., Albrecht,E., Corre,T., Ingelsson,E., Hayward,C., Magnusson,P.K., Smith,E.N., Ulivi,S., Warrington,N.M., Zgaga,L., Alavere,H., Amin,N., Aspelund,T., Bandinelli,S., Barroso,I., Berenson,G.S., Bergmann,S., Blackburn,H., Boerwinkle,E., Buring,J.E., Busonero,F., Campbell,H., Chanock,S.J., Chen,W., Cornelis,M.C., Couper,D., Coviello,A.D., d'Adamo,P., de Faire,U., de Geus,E.J., Deloukas,P., Doring,A., Smith,G.D., Easton,D.F., Eiriksdottir,G., Emilsson,V., Eriksson,J., Ferrucci,L., Folsom,A.R., Foroud,T., Garcia,M., Gasparini,P., Geller,F., Gieger,C., Gudnason,V., Hall,P., Hankinson,S.E., Ferreli,L., Heath,A.C., Hernandez,D.G., Hofman,A., Hu,F.B., Illig,T., Jarvelin,M.R., Johnson,A.D., Karasik,D., Khaw,K.T., Kiel,D.P., Kilpelainen,T.O., Kolcic,I., Kraft,P., Launer,L.J., Laven,J.S., Li,S., Liu,J., Levy,D., Martin,N.G., McArdle,W.L., Melbye,M., Mooser,V., Murray,J.C., Murray,S.S., Nalls,M.A., Navarro,P., Nelis,M., Ness,A.R., Northstone,K., Oostra,B.A., Peacock,M., Palmer,L.J., Palotie,A., Pare,G., Parker,A.N., Pedersen,N.L., Peltonen,L., Pennell,C.E., Pharoah,P., Polasek,O., Plump,A.S., Pouta,A., Porcu,E., Rafnar,T., Rice,J.P., Ring,S.M., Rivadeneira,F., Rudan,I., Sala,C., Salomaa,V., Sanna,S., Schlessinger,D., Schork,N.J., Scuteri,A., Segre,A.V., Shuldiner,A.R., Soranzo,N., Sovio,U., Srinivasan,S.R., Strachan,D.P., Tammesoo,M.L., Tikkanen,E., Toniolo,D., Tsui,K., Tryggvadottir,L., Tyrer,J., Uda,M., van Dam,R.M., van Meurs,J.B., Vollenweider,P., Waeber,G., Wareham,N.J., Waterworth,D.M., Weedon,M.N., Wichmann,H.E., Willemsen,G., Wilson,J.F., Wright,A.F., Young,L., Zhai,G., Zhuang,W.V., Bierut,L.J., Boomsma,D.I., Boyd,H.A., Crisponi,L., Demerath,E.W., van Duijn,C.M., Econs,M.J., Harris,T.B., Hunter,D.J., Loos,R.J., Metspalu,A., Montgomery,G.W., Ridker,P.M., Spector,T.D., Streeten,E.A., Stefansson,K., Thorsteinsdottir,U., Uitterlinden,A.G., Widen,E., Murabito,J.M., Ong,K.K. and Murray,A. |
| Journal | Nat. Genet. 42 (12), 1077-1085 (2010) |
| Title | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score . |
| Author | Rose,J.E., Behm,F.M., Drgon,T., Johnson,C. and Uhl,G.R. |
| Journal | Mol. Med. 16 (7-8), 247-253 (2010) |
| Title | The rest repression of the neurosecretory phenotype is negatively modulated by BHC80, a protein of the BRAF/HDAC complex . |
| Author | Klajn,A., Ferrai,C., Stucchi,L., Prada,I., Podini,P., Baba,T., Rocchi,M., Meldolesi,J. and D'Alessandro,R. |
| Journal | J. Neurosci. 29 (19), 6296-6307 (2009) |
| Title | Gene function in early mouse embryonic stem cell differentiation . |
| Author | Hailesellasse Sene,K., Porter,C.J., Palidwor,G., Perez-Iratxeta,C., Muro,E.M., Campbell,P.A., Rudnicki,M.A. and Andrade-Navarro,M.A. |
| Journal | BMC Genomics 8, 85 (2007) |
| Title | Regulation of LSD1 histone demethylase activity by its associated factors . |
| Author | Shi,Y.J., Matson,C., Lan,F., Iwase,S., Baba,T. and Shi,Y. |
| Journal | Mol. Cell 19 (6), 857-864 (2005) |
| Title | Characterization of BHC80 in BRAF-HDAC complex, involved in neuron-specific gene repression . |
| Author | Iwase,S., Januma,A., Miyamoto,K., Shono,N., Honda,A., Yanagisawa,J. and Baba,T. |
| Journal | Biochem. Biophys. Res. Commun. 322 (2), 601-608 (2004) |
| Title | A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes . |
| Author | Hakimi,M.A., Dong,Y., Lane,W.S., Speicher,D.W. and Shiekhattar,R. |
| Journal | J. Biol. Chem. 278 (9), 7234-7239 (2003) |
| Title | A core-BRAF35 complex containing histone deacetylase mediates repression of neuronal-specific genes . |
| Author | Hakimi,M.A., Bochar,D.A., Chenoweth,J., Lane,W.S., Mandel,G. and Shiekhattar,R. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 99 (11), 7420-7425 (2002) |
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