LOCUS NP_001129711 595 aa linear PRI 25-DEC-2022
DEFINITION putative histone-lysine N-methyltransferase PRDM6 [Homo sapiens].
ACCESSION NP_001129711 XP_001723307 XP_932740 XP_942846
VERSION NP_001129711.1
DBSOURCE REFSEQ: accession NM_001136239.4
KEYWORDS RefSeq; MANE Select.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 595)
AUTHORS Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
MA.
TITLE A reference map of the human binary protein interactome
JOURNAL Nature 580 (7803), 402-408 (2020)
PUBMED 32296183
REFERENCE 2 (residues 1 to 595)
AUTHORS Riveros-McKay F, Mistry V, Bounds R, Hendricks A, Keogh JM, Thomas
H, Henning E, Corbin LJ, O'Rahilly S, Zeggini E, Wheeler E, Barroso
I and Farooqi IS.
CONSRTM Understanding Society Scientific Group
TITLE Genetic architecture of human thinness compared to severe obesity
JOURNAL PLoS Genet 15 (1), e1007603 (2019)
PUBMED 30677029
REMARK GeneRIF: we detected a novel obesity and BMI-associated locus at
PKHD1 and novel variants driving associations at previously
established signals (e.g. rs205262 at the SNRPC/C6orf106 locus and
rs112446794 at the PRDM6-CEP120 locus).
Publication Status: Online-Only
REFERENCE 3 (residues 1 to 595)
AUTHORS Li,N., Subrahmanyan,L., Smith,E., Yu,X., Zaidi,S., Choi,M.,
Mane,S., Nelson-Williams,C., Behjati,M., Kazemi,M., Hashemi,M.,
Fathzadeh,M., Narayanan,A., Tian,L., Montazeri,F., Mani,M.,
Begleiter,M.L., Coon,B.G., Lynch,H.T., Olson,E.N., Zhao,H.,
Ruland,J., Lifton,R.P. and Mani,A.
TITLE Mutations in the Histone Modifier PRDM6 Are Associated with
Isolated Nonsyndromic Patent Ductus Arteriosus
JOURNAL Am J Hum Genet 99 (4), 1000 (2016)
PUBMED 27716515
REMARK Correction to:[Am J Hum Genet. 2016 Jun 2;98 (6):1082-1091. PMID:
27181681]
REFERENCE 4 (residues 1 to 595)
AUTHORS Li N, Subrahmanyan L, Smith E, Yu X, Zaidi S, Choi M, Mane S,
Nelson-Williams C, Behjati M, Kazemi M, Hashemi M, Fathzadeh M,
Narayanan A, Tian L, Montazeri F, Mani M, Begleiter ML, Coon BG,
Lynch HT, Olson EN, Zhao H, Ruland J, Lifton RP and Mani A.
TITLE Mutations in the Histone Modifier PRDM6 Are Associated with
Isolated Nonsyndromic Patent Ductus Arteriosus
JOURNAL Am J Hum Genet 98 (6), 1082-1091 (2016)
PUBMED 27181681
REMARK GeneRIF: Mutations in the Histone Modifier PRDM6 Are Associated
with Isolated Nonsyndromic Patent Ductus Arteriosus.
Erratum:[Am J Hum Genet. 2016 Oct 6;99(4):1000. PMID: 27716515]
REFERENCE 5 (residues 1 to 595)
AUTHORS Hong KW, Lim JE, Kim JW, Tabara Y, Ueshima H, Miki T, Matsuda F,
Cho YS, Kim Y and Oh B.
TITLE Identification of three novel genetic variations associated with
electrocardiographic traits (QRS duration and PR interval) in East
Asians
JOURNAL Hum Mol Genet 23 (24), 6659-6667 (2014)
PUBMED 25035420
REMARK GeneRIF: Three novel loci were identified in East Asians with
cardiac arrhythmias: rs2483280 (PRDM16 locus) and rs335206 (PRDM6
locus) were associated with QRS duration; and rs17026156 (SLC8A1
locus) correlated with PR interval.
REFERENCE 6 (residues 1 to 595)
AUTHORS Lindstrom S, Thompson DJ, Paterson AD, Li J, Gierach GL, Scott C,
Stone J, Douglas JA, dos-Santos-Silva I, Fernandez-Navarro P,
Verghase J, Smith P, Brown J, Luben R, Wareham NJ, Loos RJ, Heit
JA, Pankratz VS, Norman A, Goode EL, Cunningham JM, deAndrade M,
Vierkant RA, Czene K, Fasching PA, Baglietto L, Southey MC, Giles
GG, Shah KP, Chan HP, Helvie MA, Beck AH, Knoblauch NW, Hazra A,
Hunter DJ, Kraft P, Pollan M, Figueroa JD, Couch FJ, Hopper JL,
Hall P, Easton DF, Boyd NF, Vachon CM and Tamimi RM.
TITLE Genome-wide association study identifies multiple loci associated
with both mammographic density and breast cancer risk
JOURNAL Nat Commun 5, 5303 (2014)
PUBMED 25342443
REMARK Erratum:[Nat Commun. 2015;6:8358. PMID: 26349435]
Publication Status: Online-Only
REFERENCE 7 (residues 1 to 595)
AUTHORS Davis CA, Haberland M, Arnold MA, Sutherland LB, McDonald OG,
Richardson JA, Childs G, Harris S, Owens GK and Olson EN.
TITLE PRISM/PRDM6, a transcriptional repressor that promotes the
proliferative gene program in smooth muscle cells
JOURNAL Mol Cell Biol 26 (7), 2626-2636 (2006)
PUBMED 16537907
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AC106786.2 and AC008548.6.
This sequence is a reference standard in the RefSeqGene project.
On or before Oct 31, 2008 this sequence version replaced
XP_932740.3, XP_001723307.1, XP_942846.3.
Summary: The protein encoded by this gene is a transcriptional
repressor and a member of the PRDM family. Family members contain a
PR domain and multiple zinc-finger domains. The encoded protein is
involved in regulation of vascular smooth muscle cells (VSMC)
contractile proteins. Mutations in this gene result in patent
ductus arteriosus 3 (PDA3). [provided by RefSeq, Apr 2017].
Sequence Note: The RefSeq transcript and protein were derived from
genomic sequence to make the sequence consistent with the reference
genome assembly. The genomic coordinates used for the transcript
record were based on alignments.
##Evidence-Data-START##
RNAseq introns :: single sample supports all introns SAMEA1968540,
SAMEA2142853 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
inferred exon combination :: based on alignments, homology
MANE Ensembl match :: ENST00000407847.5/ ENSP00000384725.3
RefSeq Select criteria :: based on conservation, expression,
longest protein
##RefSeq-Attributes-END##
FEATURES Location/Qualifiers
source 1..595
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="5"
/map="5q23.2"
Protein 1..595
/product="putative histone-lysine N-methyltransferase
PRDM6"
/EC_number="2.1.1.361"
/note="PR domain 6; PR-domain zinc finger protein 6; PR
domain-containing protein 6; PR domain containing 6"
/calculated_mol_wt=64321
Region 27..90
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (Q9NQX0.2)"
Region 244..372
/region_name="PR-SET_PRDM6"
/note="PR-SET domain found in PR domain zinc finger
protein 6 (PRDM6) and similar proteins; cd19191"
/db_xref="CDD:380968"
Site order(255,258..260,277,293..294,296..300,311,324..328,330,
339..340,364..365,367..368,371..372)
/site_type="active"
/note="putative active site [active]"
/db_xref="CDD:380968"
Site order(258..260,296..297,324..328,330,364)
/site_type="other"
/note="putative SAM binding site"
/db_xref="CDD:380968"
Region 475..495
/region_name="C2H2 Zn finger"
/note="C2H2 Zn finger [structural motif]"
/db_xref="CDD:275368"
Region 503..523
/region_name="C2H2 Zn finger"
/note="C2H2 Zn finger [structural motif]"
/db_xref="CDD:275368"
Site order(508,510,512,514..515,518..519,522,536,538,542..543,
546..547,550,564,566,568,570..571,574..575)
/site_type="other"
/note="putative nucleic acid binding site [nucleotide
binding]"
/db_xref="CDD:275368"
Region 527..594
/region_name="SUF4-like"
/note="N-terminal domain of Oryza sativa transcription
factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana
SUF4 (AtSUF4), and similar proteins; cd20908"
/db_xref="CDD:411020"
Region 531..552
/region_name="C2H2 Zn finger"
/note="C2H2 Zn finger [structural motif]"
/db_xref="CDD:411020"
Region 531..551
/region_name="C2H2 Zn finger"
/note="C2H2 Zn finger [structural motif]"
/db_xref="CDD:275368"
Site order(536,542,549,551,558,565)
/site_type="other"
/note="putative DNA binding site [nucleotide binding]"
/db_xref="CDD:411020"
Region 544..568
/region_name="zf-H2C2_2"
/note="Zinc-finger double domain; pfam13465"
/db_xref="CDD:433230"
Region 559..577
/region_name="C2H2 Zn finger"
/note="C2H2 Zn finger [structural motif]"
/db_xref="CDD:275368"
CDS 1..595
/gene="PRDM6"
/gene_synonym="KMT8C; PDA3; PRISM"
/coded_by="NM_001136239.4:295..2082"
/db_xref="CCDS:CCDS47259.1"
/db_xref="GeneID:93166"
/db_xref="HGNC:HGNC:9350"
/db_xref="MIM:616982"
ORIGIN
1 mlkpgdpggs aflkvdpayl qhwqqlfphg gagplkgsga agllsapqpl qppppppppe
61 raepppdslr prpaslssas stpassstsa ssasscaaaa aaaalaglsa lpvsqlpvfa
121 plaaaavaae plppkelclg atsgpgpvkc ggggggggeg rgaprfrcsa eeldyylygq
181 qrmeiiplnq htsdpnnrcd mcadnrngec pmhgplhslr rlvgtssaaa aapppelpew
241 lrdlprevcl ctstvpglay gicaaqriqq gtwigpfqgv llppekvqag avrntqhlwe
301 iydqdgtlqh fidggepsks swmryircar hcgeqnltvv qyrsnifyra cidiprgtel
361 lvwyndsyts ffgiplqcia qdenlnvpst vmeamcrqda lqpfnksskl apttqqrsvv
421 fpqtpcsrnf slldksgpie sgfnqinvkn qrvlasptst sqlhsefsdw hlwkcgqcfk
481 tftqrillqm hvctqnpdrp yqcghcsqsf sqpselrnhv vthssdrpfk cgycgrafag
541 attlnnhirt htgekpfkce rcersftqat qlsrhqrmpn eckpitespe sievd
//
