GRL1A_HUMAN
ID GRL1A_HUMAN Reviewed; 368 AA.
AC P0CAP2; Q6EER8; Q6EES2; Q6EEV3; Q6EF00; Q6EF01; Q6EF02; Q6EF46; Q6EFN8;
AC Q6EM48; Q6K046; Q6K050; Q6K051; Q6ZQZ3; Q8NC58; Q8NCF3; Q96DI5; Q96JB7;
AC Q96NF5; Q9Y3V6;
DT 26-MAY-2009, integrated into UniProtKB/Swiss-Prot.
DT 26-MAY-2009, sequence version 1.
DT 03-AUG-2022, entry version 101.
DE RecName: Full=DNA-directed RNA polymerase II subunit GRINL1A;
DE AltName: Full=DNA-directed RNA polymerase II subunit M;
DE AltName: Full=Glutamate receptor-like protein 1A;
GN Name=POLR2M; Synonyms=GRINL1A;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=11474202; DOI=10.1159/000056971;
RA Roginski R.S., Mohan Raj B.K., Finkernagel S.W., Sciorra L.J.;
RT "Assignment of an ionotropic glutamate receptor-like gene (GRINL1A) to
RT human chromosome 15q22.1 by in situ hybridization.";
RL Cytogenet. Cell Genet. 93:143-144(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 11), AND TISSUE SPECIFICITY.
RC TISSUE=Brain, and Lung;
RX PubMed=15233991; DOI=10.1016/j.ygeno.2004.04.004;
RA Roginski R.S., Mohan Raj B.K., Birditt B., Rowen L.;
RT "The human GRINL1A gene defines a complex transcription unit, an unusual
RT form of gene organization in eukaryotes.";
RL Genomics 84:265-276(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
RC TISSUE=Heart;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain cortex;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 171-368.
RC TISSUE=Uterus;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY.
RX PubMed=15175163; DOI=10.1016/j.molcel.2004.05.006;
RA Sato S., Tomomori-Sato C., Parmely T.J., Florens L., Zybailov B.,
RA Swanson S.K., Banks C.A.S., Jin J., Cai Y., Washburn M.P., Conaway J.W.,
RA Conaway R.C.;
RT "A set of consensus mammalian mediator subunits identified by
RT multidimensional protein identification technology.";
RL Mol. Cell 14:685-691(2004).
RN [9]
RP FUNCTION, AND RECONSTITUTION OF THE POL II(G) COMPLEX.
RX PubMed=16769904; DOI=10.1073/pnas.0603702103;
RA Hu X., Malik S., Negroiu C.C., Hubbard K., Velalar C.N., Hampton B.,
RA Grosu D., Catalano J., Roeder R.G., Gnatt A.;
RT "A Mediator-responsive form of metazoan RNA polymerase II.";
RL Proc. Natl. Acad. Sci. U.S.A. 103:9506-9511(2006).
CC -!- FUNCTION: Isoform 1 appears to be a stable component of the Pol II(G)
CC complex form of RNA polymerase II (Pol II). Pol II synthesizes mRNA
CC precursors and many functional non-coding RNAs and is the central
CC component of the basal RNA polymerase II transcription machinery.
CC Isoform 1 may play a role in the Mediator complex-dependent regulation
CC of transcription activation. Isoform 1 acts in vitro as a negative
CC regulator of transcriptional activation; this repression is relieved by
CC the Mediator complex, which restores Pol II(G) activator-dependent
CC transcription to a level equivalent to that of Pol II.
CC {ECO:0000269|PubMed:16769904}.
CC -!- SUBUNIT: Isoform 1 is a component of the Pol II(G) complex, which
CC contains the RNA polymerase II (Pol II) core complex subunits and
CC POLR2M isoform 1. Pol II(G) appears to be an abundant form of Pol II.
CC -!- SUBCELLULAR LOCATION: [Isoform 1]: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Comment=Additional isoforms seem to exist.;
CC Name=1; Synonyms=Gdown1;
CC IsoId=P0CAP2-1; Sequence=Displayed;
CC Name=2; Synonyms=Gdown6;
CC IsoId=P0CAP2-2; Sequence=VSP_037387;
CC Name=3;
CC IsoId=P0CAP2-3; Sequence=VSP_037388;
CC Name=4; Synonyms=Gdown4;
CC IsoId=Q6EEV4-1; Sequence=External;
CC Name=5; Synonyms=Gdown3;
CC IsoId=Q6EEV4-2; Sequence=External;
CC Name=11; Synonyms=Gcom1, GRINL1A complex locus protein 1;
CC IsoId=P0CAP1-11; Sequence=External;
CC -!- TISSUE SPECIFICITY: Detected in adult an fetal brain. Detected in
CC heart, kidney, skeletal muscle, small intestine, lung, prostate and
CC testis. {ECO:0000269|PubMed:15233991}.
CC -!- MISCELLANEOUS: The adjacent MYZAP and POLR2M genes are part of a
CC complex transcription unit. The respective transcripts derive from
CC different promoters and are alternatively spliced. In human, some
CC transcripts of the upstream promoter of MYZAP use exons of the
CC downstream POLR2M gene.
CC -!- SIMILARITY: Belongs to the GRINL1 family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AF326773; AAK92284.2; -; mRNA.
DR EMBL; AY207007; AAO39707.1; -; mRNA.
DR EMBL; AY353061; AAQ76837.1; -; mRNA.
DR EMBL; AK074767; BAC11193.1; -; mRNA.
DR EMBL; AK074955; BAC11313.1; -; mRNA.
DR EMBL; AK128618; BAC87533.1; -; mRNA.
DR EMBL; AC090651; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471082; EAW77525.1; -; Genomic_DNA.
DR EMBL; BC001510; AAH01510.1; -; mRNA.
DR EMBL; AL050091; CAB43263.1; -; mRNA.
DR CCDS; CCDS32252.1; -. [P0CAP2-1]
DR CCDS; CCDS42045.1; -. [P0CAP2-2]
DR PIR; T08740; T08740.
DR RefSeq; NP_001018112.1; NM_001018102.2. [P0CAP2-2]
DR RefSeq; NP_056347.1; NM_015532.4. [P0CAP2-1]
DR PDB; 6DRD; EM; 3.90 A; M=300-316.
DR PDBsum; 6DRD; -.
DR AlphaFoldDB; P0CAP2; -.
DR SMR; P0CAP2; -.
DR BioGRID; 123498; 131.
DR DIP; DIP-61933N; -.
DR IntAct; P0CAP2; 61.
DR MINT; P0CAP2; -.
DR STRING; 9606.ENSP00000299638; -.
DR GlyGen; P0CAP2; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; P0CAP2; -.
DR PhosphoSitePlus; P0CAP2; -.
DR BioMuta; POLR2M; -.
DR DMDM; 238064986; -.
DR EPD; P0CAP2; -.
DR jPOST; P0CAP2; -.
DR MassIVE; P0CAP2; -.
DR MaxQB; P0CAP2; -.
DR PaxDb; P0CAP2; -.
DR PeptideAtlas; P0CAP2; -.
DR PRIDE; P0CAP2; -.
DR ProteomicsDB; 52428; -. [P0CAP2-1]
DR ProteomicsDB; 52429; -. [P0CAP2-2]
DR ProteomicsDB; 52430; -. [P0CAP2-3]
DR Antibodypedia; 57855; 103 antibodies from 15 providers.
DR DNASU; 81488; -.
DR Ensembl; ENST00000299638.8; ENSP00000299638.3; ENSG00000255529.9. [P0CAP2-1]
DR Ensembl; ENST00000380557.4; ENSP00000369930.4; ENSG00000255529.9. [P0CAP2-2]
DR Ensembl; ENST00000482852.5; ENSP00000432615.1; ENSG00000255529.9. [P0CAP2-3]
DR GeneID; 81488; -.
DR KEGG; hsa:81488; -.
DR MANE-Select; ENST00000299638.8; ENSP00000299638.3; NM_015532.5; NP_056347.1.
DR UCSC; uc002aet.6; human. [P0CAP2-1]
DR CTD; 81488; -.
DR DisGeNET; 81488; -.
DR GeneCards; POLR2M; -.
DR HGNC; HGNC:14862; POLR2M.
DR HPA; ENSG00000255529; Low tissue specificity.
DR MIM; 606485; gene.
DR neXtProt; NX_P0CAP2; -.
DR OpenTargets; ENSG00000255529; -.
DR PharmGKB; PA28986; -.
DR VEuPathDB; HostDB:ENSG00000255529; -.
DR eggNOG; ENOG502S3HI; Eukaryota.
DR GeneTree; ENSGT00950000183065; -.
DR HOGENOM; CLU_051512_0_0_1; -.
DR InParanoid; P0CAP2; -.
DR OMA; PRKQKFK; -.
DR PhylomeDB; P0CAP2; -.
DR TreeFam; TF332945; -.
DR PathwayCommons; P0CAP2; -.
DR SignaLink; P0CAP2; -.
DR SIGNOR; P0CAP2; -.
DR BioGRID-ORCS; 81488; 154 hits in 1035 CRISPR screens.
DR ChiTaRS; POLR2M; human.
DR GenomeRNAi; 81488; -.
DR Pharos; P0CAP2; Tbio.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; P0CAP2; protein.
DR Bgee; ENSG00000255529; Expressed in germinal epithelium of ovary and 205 other tissues.
DR ExpressionAtlas; P0CAP2; baseline and differential.
DR Genevisible; P0CAP2; HS.
DR GO; GO:0043025; C:neuronal cell body; IEA:Ensembl.
DR GO; GO:0005635; C:nuclear envelope; IDA:LIFEdb.
DR GO; GO:0005665; C:RNA polymerase II, core complex; IPI:FlyBase.
DR GO; GO:0016591; C:RNA polymerase II, holoenzyme; IDA:UniProtKB.
DR GO; GO:0035556; P:intracellular signal transduction; IBA:GO_Central.
DR GO; GO:0051685; P:maintenance of ER location; IBA:GO_Central.
DR InterPro; IPR026213; GRINL1.
DR Pfam; PF15328; GCOM2; 1.
DR PRINTS; PR02085; POLR2GRINL1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Coiled coil;
KW DNA-directed RNA polymerase; Nucleus; Reference proteome; Transcription.
FT CHAIN 1..368
FT /note="DNA-directed RNA polymerase II subunit GRINL1A"
FT /id="PRO_5000089546"
FT REGION 116..186
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 203..227
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 255..282
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 339..368
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 301..335
FT /evidence="ECO:0000255"
FT COMPBIAS 116..134
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 149..163
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 164..179
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 203..224
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 255..270
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 39..195
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15233991"
FT /id="VSP_037387"
FT VAR_SEQ 323..368
FT /note="MQAKLAAQKLAERLNIKMRSYNPEGESSGRYREVRDEDDDWSSDEF -> RP
FT FYSPQYRSSMNLLSLAAAAKDTRGSKSGKMGSLALLTKL (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_037388"
FT CONFLICT 171
FT /note="H -> D (in Ref. 7; CAB43263)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 368 AA; 41740 MW; B2F3ADAC21793D1E CRC64;
MCSLPRGFEP QAPEDLAQRS LVELREMLKR QERLLRNEKF ICKLPDKGKK IFDSFAKLKA
AIAECEEVRR KSELFNPVSL DCKLRQKAIA EVDVGTDKAQ NSDPILDTSS LVPGCSSVDN
IKSSQTSQNQ GLGRPTLEGD EETSEVEYTV NKGPASSNRD RVPPSSEASE HHPRHRVSSQ
AEDTSSSFDN LFIDRLQRIT IADQGEQQSE ENASTKNLTG LSSGTEKKPH YMEVLEMRAK
NPVPQLRKFK TNVLPFRQND SSSHCQKSGS PISSEERRRR DKQHLDDITA ARLLPLHHMP
TQLLSIEESL ALQKQQKQNY EEMQAKLAAQ KLAERLNIKM RSYNPEGESS GRYREVRDED
DDWSSDEF