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Q6EEV4 (GL1AD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 44. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
DNA-directed RNA polymerase II subunit GRINL1A, isoforms 4/5
Alternative name(s):
DNA-directed RNA polymerase II subunit M, isoforms 4/5
Gene names
Name:POLR2M
Synonyms:GRINL1A
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length148 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Miscellaneous

The adjacent MYZAP and POLR2M genes are part of a complex transcription unit. The respective transcripts derive from different promoters and are alternatively spliced. In human, some transcripts of the upstream promoter of MYZAP use exons of the downstream POLR2M gene.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.
Isoform 4 (identifier: Q6EEV4-1)

Also known as: Gdown4;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 1 (identifier: P0CAP2-1)

Also known as: Gdown1;

The sequence of this isoform can be found in the external entry P0CAP2.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Isoform 2 (identifier: P0CAP2-2)

Also known as: Gdown6;

The sequence of this isoform can be found in the external entry P0CAP2.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Isoform 3 (identifier: P0CAP2-3)

The sequence of this isoform can be found in the external entry P0CAP2.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Isoform 5 (identifier: Q6EEV4-2)

Also known as: Gdown3;

The sequence of this isoform differs from the canonical sequence as follows:
     77-138: Missing.
Isoform 6 (identifier: P0CAP1-11)

Also known as: Gcom1; GRINL1A complex locus protein 1;

The sequence of this isoform can be found in the external entry P0CAP1.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Note: Based on a naturally occurring readthrough transcript which produces a MYZAP-POLR2M fusion protein.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 148148DNA-directed RNA polymerase II subunit GRINL1A, isoforms 4/5
PRO_0000326233

Natural variations

Alternative sequence77 – 13862Missing in isoform 5.
VSP_032624
Natural variant1271A → P.
Corresponds to variant rs11858659 [ dbSNP | Ensembl ].
VAR_054029

Sequences

Sequence LengthMass (Da)Tools
Isoform 4 (Gdown4) [UniParc].

Last modified August 16, 2004. Version 1.
Checksum: A820EB7E6488C298

FASTA14815,131
        10         20         30         40         50         60 
MATPARAPES PPSADPALVA GPAEEAECPP PRQPQPAQNV LAAPRLRAPS SRGLGAAEFG 

        70         80         90        100        110        120 
GAAGNVEAPG ETFAQRVSWG PAESPPGSFS SSSLGAPLPS RTLFPSLEGD FDSVTFASVL 

       130        140 
RASGRRACCG RAVPLPGQKI HLQIARQR 

« Hide

Isoform 1 (Gdown1) [UniParc].

See P0CAP2.

Isoform 2 (Gdown6) [UniParc].

See P0CAP2.

Isoform 3 [UniParc].

See P0CAP2.

Isoform 5 (Gdown3) [UniParc].

Checksum: B5EC3D84577E830D
Show »

FASTA868,827
Isoform 6 (Gcom1) (GRINL1A complex locus protein 1) [UniParc].

See P0CAP1.

References

« Hide 'large scale' references
[1]"The human GRINL1A gene defines a complex transcription unit, an unusual form of gene organization in eukaryotes."
Roginski R.S., Mohan Raj B.K., Birditt B., Rowen L.
Genomics 84:265-276(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5).
Tissue: Brain and Heart.
[2]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY341344 mRNA. Translation: AAQ76830.1.
AY339380 mRNA. Translation: AAQ82540.1.
RefSeqNP_001018112.1. NM_001018102.2.
NP_056347.1. NM_015532.4.
UniGeneHs.437256.
Hs.702937.

3D structure databases

ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123498. 19 interactions.

PTM databases

PhosphoSiteQ6EEV4.

Proteomic databases

PRIDEQ6EEV4.

Protocols and materials databases

DNASU81488.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

GeneID81488.
KEGGhsa:81488.
UCSCuc002aev.1. human. [Q6EEV4-1]

Organism-specific databases

CTD81488.
GeneCardsGC15P057888.
HGNCHGNC:14862. POLR2M.
MIM606485. gene.
neXtProtNX_Q6EEV4.
PharmGKBPA28986.
GenAtlasSearch...

Gene expression databases

CleanExHS_GRINL1A.
GenevestigatorQ6EEV4.

Family and domain databases

ProtoNetSearch...

Other

GenomeRNAi81488.
NextBio71714.
PROQ6EEV4.
SOURCESearch...

Entry information

Entry nameGL1AD_HUMAN
AccessionPrimary (citable) accession number: Q6EEV4
Secondary accession number(s): Q6EEV7
Entry history
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: August 16, 2004
Last modified: March 19, 2014
This is version 44 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM