Gene: HMGCR ENSG00000113161

Description

3-hydroxy-3-methylglutaryl-CoA reductase [Source:HGNC Symbol;Acc:5006]

Gene Synonyms

LDLCQ3

Location

Chromosome 5: 74,632,154-74,657,929 forward strand.

GRCh37:CM000667.1

About this gene

This gene has 13 transcripts (splice variants) and is associated with 1 phenotype.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000287936.4	HMGCR-001	4585	888aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS4027	C9JKX7 D6RIW0 P04035	NM_000859.2	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000343975.5	HMGCR-004	3681	835aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS47234	C9JKX7 D6RIW0 P04035	NM_001130996.1	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000511206.1	HMGCR-002	3395	888aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS4027	C9JKX7 D6RIW0 P04035	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000509085.1	HMGCR-005	637	165aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000507942.1	HMGCR-009	527	111aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JKX7 D6RIW0	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000511986.1	HMGCR-006	487	115aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H0Y8F6	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000442032.2	HMGCR-010	268	18aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JKX7	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000504466.1	HMGCR-007	1107	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000514315.2	HMGCR-013	603	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000515776.1	HMGCR-012	501	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000512053.1	HMGCR-014	465	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000508070.1	HMGCR-011	450	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000509431.1	HMGCR-008	421	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Name

HMGCR (HGNC Symbol)

UniProtKB

This gene has proteins that correspond to the following UniProtKB identifiers: P04035

CCDS

This gene is a member of the Human CCDS set: CCDS4027.1, CCDS47234.1

Ensembl version

ENSG00000113161.11

Other assemblies

This gene maps to 75,336,329-75,362,104 in GRCh38 coordinates.

Gene type

Protein coding

Annotation method

Annotation for this gene includes both automatic annotation from Ensembl and Havana manual curation, see article.

Alternative genes

This gene corresponds to the following database identifiers:

Havana gene:	OTTHUMG00000102069 (version 3)

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Gene: HMGCR ENSG00000113161

Summary