GL1AD_HUMAN
ID GL1AD_HUMAN Reviewed; 148 AA.
AC Q6EEV4; Q6EEV7;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 16-AUG-2004, sequence version 1.
DT 03-AUG-2022, entry version 90.
DE RecName: Full=DNA-directed RNA polymerase II subunit GRINL1A, isoforms 4/5;
DE AltName: Full=DNA-directed RNA polymerase II subunit M, isoforms 4/5;
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] (ISOFORMS 4 AND 5).
RC TISSUE=Brain, and Heart;
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 [2]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [3]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Comment=Additional isoforms seem to exist.;
CC Name=4; Synonyms=Gdown4;
CC IsoId=Q6EEV4-1; Sequence=Displayed;
CC Name=1; Synonyms=Gdown1;
CC IsoId=P0CAP2-1; Sequence=External;
CC Name=2; Synonyms=Gdown6;
CC IsoId=P0CAP2-2; Sequence=External;
CC Name=3;
CC IsoId=P0CAP2-3; Sequence=External;
CC Name=5; Synonyms=Gdown3;
CC IsoId=Q6EEV4-2; Sequence=VSP_032624;
CC Name=11; Synonyms=Gcom1, GRINL1A complex locus protein 1;
CC IsoId=P0CAP1-11; Sequence=External;
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.
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DR EMBL; AY341344; AAQ76830.1; -; mRNA.
DR EMBL; AY339380; AAQ82540.1; -; mRNA.
DR RefSeq; NP_001018112.1; NM_001018102.2.
DR RefSeq; NP_056347.1; NM_015532.4.
DR AlphaFoldDB; Q6EEV4; -.
DR BioGRID; 123498; 131.
DR iPTMnet; Q6EEV4; -.
DR PhosphoSitePlus; Q6EEV4; -.
DR BioMuta; POLR2M; -.
DR EPD; Q6EEV4; -.
DR jPOST; Q6EEV4; -.
DR MassIVE; Q6EEV4; -.
DR MaxQB; Q6EEV4; -.
DR PeptideAtlas; Q6EEV4; -.
DR PRIDE; Q6EEV4; -.
DR ProteomicsDB; 66278; -. [Q6EEV4-1]
DR ProteomicsDB; 66279; -. [Q6EEV4-2]
DR TopDownProteomics; Q6EEV4-2; -. [Q6EEV4-2]
DR Antibodypedia; 57855; 103 antibodies from 15 providers.
DR DNASU; 81488; -.
DR Ensembl; ENST00000649091.1; ENSP00000497820.1; ENSG00000255529.9. [Q6EEV4-2]
DR GeneID; 81488; -.
DR KEGG; hsa:81488; -.
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_Q6EEV4; -.
DR OpenTargets; ENSG00000255529; -.
DR PharmGKB; PA28986; -.
DR VEuPathDB; HostDB:ENSG00000255529; -.
DR GeneTree; ENSGT00950000183065; -.
DR OrthoDB; 1227717at2759; -.
DR PathwayCommons; Q6EEV4; -.
DR SignaLink; Q6EEV4; -.
DR SIGNOR; Q6EEV4; -.
DR BioGRID-ORCS; 81488; 154 hits in 1035 CRISPR screens.
DR ChiTaRS; POLR2M; human.
DR GenomeRNAi; 81488; -.
DR Pharos; Q6EEV4; Tbio.
DR Proteomes; UP000005640; Chromosome 15.
DR Bgee; ENSG00000255529; Expressed in germinal epithelium of ovary and 205 other tissues.
DR ExpressionAtlas; Q6EEV4; baseline and differential.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..148
FT /note="DNA-directed RNA polymerase II subunit GRINL1A,
FT isoforms 4/5"
FT /id="PRO_0000326233"
FT REGION 1..66
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 77..138
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15233991"
FT /id="VSP_032624"
FT VARIANT 127
FT /note="A -> P (in dbSNP:rs11858659)"
FT /id="VAR_054029"
SQ SEQUENCE 148 AA; 15131 MW; A820EB7E6488C298 CRC64;
MATPARAPES PPSADPALVA GPAEEAECPP PRQPQPAQNV LAAPRLRAPS SRGLGAAEFG
GAAGNVEAPG ETFAQRVSWG PAESPPGSFS SSSLGAPLPS RTLFPSLEGD FDSVTFASVL
RASGRRACCG RAVPLPGQKI HLQIARQR